#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPEN	23013	broad.mit.edu	37	1	16260282	16260282	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:16260282C>T	ENST00000375759.3	+	11	7751	c.7547C>T	c.(7546-7548)cCa>cTa	p.P2516L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2516	Pro-rich.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P2516L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACTCCATCTCCAGCTCTTCCC	0.582																																							uc001axk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(7546-7548)CCA>CTA		spen homolog, transcriptional regulator							137.0	142.0	140.0					1																	16260282		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260282C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7547C>T	1.37:g.16260282C>T	ENSP00000364912:p.Pro2516Leu					SPEN_uc010obp.1_Missense_Mutation_p.P2475L	p.P2516L	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7751	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2516			RID.|Pro-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7547C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937496	0.52972	.	.	ENSG00000065526	ENST00000375759	T	0.37915	1.17	5.16	5.16	0.70880	.	.	.	.	.	T	0.55561	0.1928	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.53542	-0.8424	9	0.42905	T	0.14	-11.4672	18.6444	0.91406	0.0:1.0:0.0:0.0	.	2516	Q96T58	MINT_HUMAN	L	2516	ENSP00000364912:P2516L	ENSP00000364912:P2516L	P	+	2	0	SPEN	16132869	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.357000	0.73051	2.418000	0.82041	0.561000	0.74099	CCA		0.582	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		96	338	0	0	0	0.01441	0	96	338				
GRHL3	57822	broad.mit.edu	37	1	24663569	24663569	+	Splice_Site	SNP	C	C	T	rs201073516	byFrequency	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:24663569C>T	ENST00000350501.5	+	5	741	c.614C>T	c.(613-615)tCg>tTg	p.S205L	GRHL3_ENST00000356046.2_Splice_Site_p.S159L|GRHL3_ENST00000361548.4_Splice_Site_p.S205L|GRHL3_ENST00000342072.4_Splice_Site_p.S112L|GRHL3_ENST00000236255.4_Splice_Site_p.S210L	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	205					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S210L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TCTCTGCAGTCGATGCTCTTC	0.532													C|||	4	0.000798722	0.0	0.0029	5008	,	,		18284	0.0		0.002	False		,,,				2504	0.0						uc001biy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(628-630)TCG>TTG		sister-of-mammalian grainyhead protein isoform		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	97.0	93.0	94.0		614,614,629,476	5.2	0.9	1		94	4,8596	4.3+/-15.6	0,4,4296	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	GRHL3	NM_198174.2,NM_198173.2,NM_021180.3,NM_001195010.1	145,145,145,145	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign,benign,benign	205/627,205/603,210/608,159/557	24663569	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663569C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.613-1C>T	1.37:g.24663569C>T						GRHL3_uc001bix.2_Missense_Mutation_p.S205L|GRHL3_uc001biz.2_Missense_Mutation_p.S112L	p.S210L	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	5	675	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	205					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.629C>T	CCDS252.2	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	13.96	2.393892	0.42410	0.0	4.65E-4	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.12039	2.92;2.72;2.9;2.92;2.92	6.06	5.15	0.70609	.	0.501626	0.21172	N	0.078961	T	0.11879	0.0289	L	0.40543	1.245	0.38986	D	0.959054	B;B;B	0.31680	0.198;0.335;0.335	B;B;B	0.22386	0.039;0.038;0.038	T	0.11251	-1.0595	10	0.28530	T	0.3	-0.8666	14.309	0.66403	0.0:0.9295:0.0:0.0705	.	159;210;205	A2A297;Q8TE85-2;G3XAF0	.;.;.	L	205;112;205;159;210	ENSP00000354943:S205L;ENSP00000340543:S112L;ENSP00000288955:S205L;ENSP00000348333:S159L;ENSP00000236255:S210L	ENSP00000236255:S210L	S	+	2	0	GRHL3	24536156	0.997000	0.39634	0.905000	0.35620	0.637000	0.38172	5.080000	0.64437	1.576000	0.49790	0.655000	0.94253	TCG		0.532	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180	Missense_Mutation	19	34	0	0	0	0.010504	0	19	34				
AIM1L	55057	broad.mit.edu	37	1	26655271	26655271	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:26655271C>T	ENST00000308182.5	-	15	1702	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	AIM1L_ENST00000527815.1_Missense_Mutation_p.E596K			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	425	Beta/gamma crystallin 'Greek key' 9. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)	p.E596K(1)|p.E425K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TTGAAGCCCTCGGCTTGCAGG	0.602																																							uc001bmd.3		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1273-1275)GAG>AAG		absent in melanoma 1-like							153.0	130.0	138.0					1																	26655271		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26655271C>T			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1273G>A	1.37:g.26655271C>T	ENSP00000310435:p.Glu425Lys						p.E425K	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	15	1703	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	425			Beta/gamma crystallin 'Greek key' 9.		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.1273G>A		.	.	.	.	.	.	.	.	.	.	C	24.9	4.586353	0.86851	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.74526	-0.85;-0.85	5.03	4.1	0.47936	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	L	0.28274	0.84	0.80722	D	1	P	0.50369	0.934	B	0.42361	0.385	T	0.59794	-0.7387	10	0.20046	T	0.44	.	15.0212	0.71632	0.0:0.8568:0.1432:0.0	.	425	Q8N1P7	AIM1L_HUMAN	K	596;425	ENSP00000433931:E596K;ENSP00000310435:E425K	ENSP00000310435:E425K	E	-	1	0	AIM1L	26527858	0.979000	0.34478	0.990000	0.47175	0.892000	0.51952	2.477000	0.45180	1.303000	0.44873	0.561000	0.74099	GAG		0.602	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		6	204	0	0	0	0.001168	0	6	204				
GPBP1L1	60313	broad.mit.edu	37	1	46120493	46120493	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:46120493G>A	ENST00000290795.3	-	5	1420	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.H67Y			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	67					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H67Y(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GAGGGCTGGTGCCAAGAATCT	0.463																																							uc001coq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(199-201)CAC>TAC		GC-rich promoter binding protein 1-like 1							35.0	36.0	36.0					1																	46120493		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46120493G>A		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.199C>T	1.37:g.46120493G>A	ENSP00000290795:p.His67Tyr						p.H67Y	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN			6	1560	-	Acute lymphoblastic leukemia(166;0.155)		67					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.199C>T	CCDS528.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298721	0.81025	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.47869	0.83;0.83	5.95	4.08	0.47627	.	0.054217	0.85682	D	0.000000	T	0.50956	0.1646	L	0.57536	1.79	0.48135	D	0.999598	P	0.48764	0.915	P	0.49829	0.623	T	0.43702	-0.9375	10	0.29301	T	0.29	-21.4805	11.9089	0.52727	0.0655:0.1229:0.8116:0.0	.	67	Q9HC44	GPBL1_HUMAN	Y	67	ENSP00000290795:H67Y;ENSP00000347224:H67Y	ENSP00000290795:H67Y	H	-	1	0	GPBP1L1	45893080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.087000	0.94110	0.847000	0.35167	0.655000	0.94253	CAC		0.463	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		16	48	0	0	0	0.00499	0	16	48				
ERICH3	127254	broad.mit.edu	37	1	75038612	75038612	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:75038612A>T	ENST00000326665.5	-	14	3000	c.2782T>A	c.(2782-2784)Tcg>Acg	p.S928T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		928	Glu-rich.							p.S928T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCTCCTCCGATGTCGCTGCC	0.552																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2782-2784)TCG>ACG		hypothetical protein LOC127254							142.0	144.0	143.0					1																	75038612		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038612A>T																												ENST00000326665.5:c.2782T>A	1.37:g.75038612A>T	ENSP00000322609:p.Ser928Thr						p.S928T	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3001	-			928			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2782T>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	6.655	0.489458	0.12641	.	.	ENSG00000178965	ENST00000326665	T	0.14766	2.48	5.1	-0.278	0.12894	.	.	.	.	.	T	0.01730	0.0055	N	0.22421	0.69	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.48080	-0.9066	9	0.18276	T	0.48	7.8023	0.8225	0.01114	0.2426:0.1269:0.3712:0.2592	.	928	Q5RHP9	CA173_HUMAN	T	928	ENSP00000322609:S928T	ENSP00000322609:S928T	S	-	1	0	C1orf173	74811200	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.266000	0.08631	-0.073000	0.12842	-0.468000	0.05107	TCG		0.552	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			11	184	0	0	0	0.008291	0	11	184				
MYBPHL	343263	broad.mit.edu	37	1	109838959	109838959	+	Missense_Mutation	SNP	C	C	T	rs200868923		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:109838959C>T	ENST00000357155.1	-	6	813	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	255								p.R255Q(1)		central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		AGAGAAGTCTCGTTGGGCAAA	0.557																																							uc001dxk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(763-765)CGA>CAA		myosin binding protein H-like							102.0	103.0	103.0					1																	109838959		2203	4300	6503	SO:0001583	missense	343263							g.chr1:109838959C>T	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.764G>A	1.37:g.109838959C>T	ENSP00000349678:p.Arg255Gln					MYBPHL_uc010ovh.1_Missense_Mutation_p.R232Q|MYBPHL_uc001dxl.2_Intron	p.R255Q	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	6	814	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	255					B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.764G>A	CCDS30793.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.11	2.139876	0.37728	.	.	ENSG00000221986	ENST00000357155	T	0.56275	0.47	5.01	3.08	0.35506	Immunoglobulin-like fold (1);	.	.	.	.	T	0.27419	0.0673	L	0.56396	1.775	0.24490	N	0.994305	D;B	0.53885	0.963;0.152	P;B	0.46796	0.527;0.028	T	0.09143	-1.0688	9	0.10636	T	0.68	.	6.2164	0.20658	0.0:0.68:0.0:0.32	.	232;255	B7ZME5;A2RUH7	.;MBPHL_HUMAN	Q	255	ENSP00000349678:R255Q	ENSP00000349678:R255Q	R	-	2	0	MYBPHL	109640482	0.098000	0.21812	0.972000	0.41901	0.901000	0.52897	1.912000	0.39946	0.656000	0.30886	0.561000	0.74099	CGA		0.557	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		11	132	0	0	0	0.008291	0	11	132				
KLHL20	27252	broad.mit.edu	37	1	173703050	173703050	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:173703050G>A	ENST00000209884.4	+	3	358	c.222G>A	c.(220-222)gtG>gtA	p.V74V	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	74	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.V74V(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGCTAGTTGTGGGCGCCAAGA	0.502																																					GBM(159;862 2695 6559 23041)	GBM(159;862 2695 6559 23041)	uc001gjc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(220-222)GTG>GTA		kelch-like 20							134.0	119.0	124.0					1																	173703050		2203	4300	6503	SO:0001819	synonymous_variant	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173703050G>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.222G>A	1.37:g.173703050G>A						KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Silent_p.V56V|KLHL20_uc001gjd.2_Silent_p.V74V	p.V74V	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			3	401	+			74			BTB.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	c.222G>A	CCDS1310.1																																																																																				0.502	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		6	128	0	0	0	0.001984	0	6	128				
XPR1	9213	broad.mit.edu	37	1	180775220	180775220	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:180775220G>A	ENST00000367590.4	+	5	668	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	XPR1_ENST00000367589.3_Missense_Mutation_p.R157Q	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	157	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.R157Q(2)|p.R157L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ACAGGGTTTCGAAAAATCCTG	0.378																																							uc001goi.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)		0						c.(469-471)CGA>CAA		xenotropic and polytropic retrovirus receptor							52.0	54.0	53.0					1																	180775220		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180775220G>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.470G>A	1.37:g.180775220G>A	ENSP00000356562:p.Arg157Gln					XPR1_uc009wxm.2_Missense_Mutation_p.R157Q|XPR1_uc009wxn.2_Missense_Mutation_p.R157Q	p.R157Q	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			5	662	+			157			SPX.|Cytoplasmic (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.470G>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047138	0.93740	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.51574	0.7	5.42	4.5	0.54988	SPX, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.70103	-0.4964	10	0.87932	D	0	-5.5262	13.8971	0.63778	0.0745:0.0:0.9255:0.0	.	157;157	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	Q	157	ENSP00000356562:R157Q	ENSP00000356561:R157Q	R	+	2	0	XPR1	179041843	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.338000	0.96553	1.294000	0.44707	0.484000	0.47621	CGA		0.378	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		4	74	0	0	0	0.009096	0	4	74				
CFH	3075	broad.mit.edu	37	1	196684873	196684873	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:196684873G>T	ENST00000367429.4	+	11	1910	c.1670G>T	c.(1669-1671)gGt>gTt	p.G557V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	557	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.G557V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGTTACAATGGTTGGTCTGAT	0.328																																							uc001gtj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(1669-1671)GGT>GTT		complement factor H isoform a precursor							238.0	225.0	229.0					1																	196684873		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196684873G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1670G>T	1.37:g.196684873G>T	ENSP00000356399:p.Gly557Val						p.G557V	NM_000186	NP_000177	P08603	CFAH_HUMAN			11	1910	+			557			Sushi 9.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1670G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469360	0.43839	.	.	ENSG00000000971	ENST00000367429	D	0.82893	-1.66	5.42	4.31	0.51392	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.92024	0.7473	M	0.94142	3.5	0.20563	N	0.999888	D	0.76494	0.999	D	0.76575	0.988	D	0.84150	0.0422	9	0.22706	T	0.39	.	9.9482	0.41623	0.1071:0.0:0.8929:0.0	.	557	P08603	CFAH_HUMAN	V	557	ENSP00000356399:G557V	ENSP00000356399:G557V	G	+	2	0	CFH	194951496	0.994000	0.37717	0.295000	0.24960	0.012000	0.07955	3.129000	0.50500	2.548000	0.85928	0.655000	0.94253	GGT		0.328	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		6	192	1	0	0.00116845	0.001168	0.00129295	6	192				
KDM5B	10765	broad.mit.edu	37	1	202704717	202704717	+	Splice_Site	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:202704717T>C	ENST00000367265.3	-	22	4429		c.e22-2		KDM5B_ENST00000367264.2_Splice_Site	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B						histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACACAGCACCTAATGTGGGAC	0.388																																							uc001gyf.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.e22-1		jumonji, AT rich interactive domain 1B							92.0	84.0	87.0					1																	202704717		2203	4300	6503	SO:0001630	splice_region_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202704717T>C	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3265-2A>G	1.37:g.202704717T>C						KDM5B_uc009xag.2_Splice_Site_p.V1125_splice|KDM5B_uc001gyg.1_Splice_Site_p.V931_splice	p.V1089_splice	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			22	3381	-								O95811|Q15752|Q9Y3Q5	Splice_Site	SNP	ENST00000367265.3	37	c.3265_splice	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307555	0.81247	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KDM5B	200971340	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	7.449000	0.80643	2.326000	0.78906	0.533000	0.62120	.		0.388	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	Intron	3	126	0	0	0	0.009096	0	3	126				
HHAT	55733	broad.mit.edu	37	1	210591515	210591515	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:210591515T>G	ENST00000367010.1	+	7	929	c.702T>G	c.(700-702)caT>caG	p.H234Q	HHAT_ENST00000541565.1_Missense_Mutation_p.H97Q|HHAT_ENST00000545154.1_Missense_Mutation_p.H235Q|HHAT_ENST00000537898.1_Missense_Mutation_p.H169Q|HHAT_ENST00000308852.6_Missense_Mutation_p.H189Q|HHAT_ENST00000545781.1_Missense_Mutation_p.H171Q|HHAT_ENST00000261458.3_Missense_Mutation_p.H234Q|HHAT_ENST00000413764.2_Missense_Mutation_p.H234Q|HHAT_ENST00000391905.3_Missense_Mutation_p.H234Q	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	234					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)	p.H234Q(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		AGCAGGAGCATGACTCCCTGA	0.527																																							uc009xcx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(700-702)CAT>CAG		hedgehog acyltransferase							141.0	134.0	136.0					1																	210591515		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210591515T>G	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.702T>G	1.37:g.210591515T>G	ENSP00000355977:p.His234Gln					HHAT_uc010psq.1_Missense_Mutation_p.H97Q|HHAT_uc001hhz.3_Missense_Mutation_p.H234Q|HHAT_uc010psr.1_Missense_Mutation_p.H235Q|HHAT_uc010pss.1_Missense_Mutation_p.H189Q|HHAT_uc009xcy.2_Missense_Mutation_p.H169Q|HHAT_uc010pst.1_Missense_Mutation_p.H171Q|HHAT_uc010psu.1_Missense_Mutation_p.H169Q	p.H234Q	NM_001122834	NP_001116306	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	7	868	+			234					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.702T>G	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	T	5.402	0.259359	0.10239	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.65;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.1	-2.52	0.06346	.	1.922540	0.01909	N	0.039731	T	0.41834	0.1176	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.001;0.001	B;B;B;B;B	0.13407	0.005;0.002;0.009;0.001;0.007	T	0.28038	-1.0056	10	0.12766	T	0.61	-0.6856	2.9071	0.05725	0.1027:0.3439:0.321:0.2324	.	189;235;97;169;234	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	Q	234;97;235;169;234;171;234;189;234;106	ENSP00000416845:H234Q;ENSP00000444995:H97Q;ENSP00000438468:H235Q;ENSP00000442625:H169Q;ENSP00000375773:H234Q;ENSP00000439229:H171Q;ENSP00000261458:H234Q;ENSP00000308628:H189Q;ENSP00000355977:H234Q;ENSP00000413399:H106Q	ENSP00000261458:H234Q	H	+	3	2	HHAT	208658138	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.673000	0.05239	-0.351000	0.08249	-0.475000	0.04921	CAT		0.527	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		6	286	0	0	0	0.001168	0	6	286				
CCDC3	83643	broad.mit.edu	37	10	12940429	12940429	+	Missense_Mutation	SNP	T	T	C	rs374419795|rs556171792	byFrequency	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:12940429T>C	ENST00000378825.3	-	3	926	c.800A>G	c.(799-801)tAc>tGc	p.Y267C	CCDC3_ENST00000378839.1_Missense_Mutation_p.Y142C	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	267						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.Y267C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CCCCCGCAGGTAGGGGGGGCG	0.647													T|||	1	0.000199681	0.0	0.0	5008	,	,		13187	0.0		0.0	False		,,,				2504	0.001						uc001ilq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(799-801)TAC>TGC		coiled-coil domain containing 3 precursor							13.0	15.0	14.0					10																	12940429		1977	3978	5955	SO:0001583	missense	83643					endoplasmic reticulum|extracellular region		g.chr10:12940429T>C	BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.800A>G	10.37:g.12940429T>C	ENSP00000368102:p.Tyr267Cys					CCDC3_uc009xjb.1_RNA|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_RNA	p.Y267C	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.163)		3	934	-		Ovarian(717;0.0822)	267					Q5VYV8|Q5VYV9	Missense_Mutation	SNP	ENST00000378825.3	37	c.800A>G	CCDS7093.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646501	0.47258	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	4.78	2.34	0.29019	.	0.507655	0.20366	N	0.093754	T	0.43831	0.1265	L	0.57536	1.79	0.34013	D	0.65168	B	0.14012	0.009	B	0.16289	0.015	T	0.48779	-0.9005	9	0.72032	D	0.01	-7.3605	4.4107	0.11432	0.1696:0.0973:0.0:0.7331	.	267	Q9BQI4	CCDC3_HUMAN	C	142;267	.	ENSP00000368102:Y267C	Y	-	2	0	CCDC3	12980435	.	.	0.376000	0.26042	0.456000	0.32438	.	.	0.293000	0.22520	0.459000	0.35465	TAC		0.647	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455		8	8	0	0	0	0.006214	0	8	8				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																							uc010qex.1		NA																	0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	87	0	0	0	0.004672	0	3	87				
MYPN	84665	broad.mit.edu	37	10	69959230	69959230	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:69959230C>T	ENST00000358913.5	+	17	3879	c.3391C>T	c.(3391-3393)Ctg>Ttg	p.L1131L	MYPN_ENST00000540630.1_Silent_p.L1131L|MYPN_ENST00000354393.2_Silent_p.L856L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1131	Ig-like 4.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.L1131L(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGTCCACTCTCTGCTCATTGA	0.552																																							uc001jnm.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(3391-3393)CTG>TTG		myopalladin							120.0	97.0	105.0					10																	69959230		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69959230C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3391C>T	10.37:g.69959230C>T						MYPN_uc001jnn.3_Silent_p.L856L|MYPN_uc001jno.3_Silent_p.L1131L|MYPN_uc009xpt.2_Silent_p.L1131L|MYPN_uc010qit.1_Silent_p.L837L|MYPN_uc010qiu.1_RNA	p.L1131L	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			18	3576	+			1131			Ig-like 4.|Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.3391C>T	CCDS7275.1																																																																																				0.552	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		6	78	0	0	0	0.001168	0	6	78				
ZDHHC16	84287	broad.mit.edu	37	10	99211511	99211511	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:99211511C>T	ENST00000370854.3	+	2	268	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R27C|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R27C|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.R27C|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.R27C|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R27C|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.R27C	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	27					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R27C(1)		kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TTACAGGCGCCGCTGTCCACC	0.667																																							uc001knj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(79-81)CGC>TGC		Abl-philin 2 isoform 1							36.0	39.0	38.0					10																	99211511		2203	4300	6503	SO:0001583	missense	84287				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:99211511C>T	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.79C>T	10.37:g.99211511C>T	ENSP00000359891:p.Arg27Cys					ZDHHC16_uc001knp.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knk.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knl.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knm.2_Missense_Mutation_p.R27C|ZDHHC16_uc001knn.2_Missense_Mutation_p.R27C|ZDHHC16_uc010qow.1_Missense_Mutation_p.R27C|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Missense_Mutation_p.R27C|ZDHHC16_uc009xvr.2_Missense_Mutation_p.R27C	p.R27C	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)	3	428	+		Colorectal(252;0.0846)	27			Cytoplasmic (Potential).		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	ENST00000370854.3	37	c.79C>T	CCDS7460.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382279	0.61845	.	.	ENSG00000171307	ENST00000370854;ENST00000393760;ENST00000414567;ENST00000370846;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086	T;T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.59	4.66	0.58398	.	0.112641	0.64402	D	0.000014	T	0.25644	0.0624	N	0.04959	-0.14	0.50039	D	0.999841	D;D;B;B;D;D;D;D	0.89917	1.0;1.0;0.069;0.015;1.0;1.0;1.0;1.0	D;D;B;B;D;D;D;D	0.85130	0.973;0.994;0.01;0.002;0.988;0.997;0.988;0.982	T	0.31420	-0.9944	10	0.87932	D	0	0.2961	14.2505	0.66016	0.1483:0.8516:0.0:0.0	.	27;27;27;2;27;27;27;27	B4DNL2;E9PCL9;B1AMU0;B1AMU1;Q969W1-3;Q969W1-4;Q969W1-2;Q969W1	.;.;.;.;.;.;.;ZDH16_HUMAN	C	27	ENSP00000359891:R27C;ENSP00000377357:R27C;ENSP00000400719:R27C;ENSP00000359883:R27C;ENSP00000345383:R27C;ENSP00000323360:R27C;ENSP00000359879:R27C;ENSP00000304487:R27C;ENSP00000398532:R27C	ENSP00000304487:R27C	R	+	1	0	ZDHHC16	99201501	0.953000	0.32496	1.000000	0.80357	0.996000	0.88848	2.733000	0.47360	2.641000	0.89580	0.561000	0.74099	CGC		0.667	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049658.2	NM_032327		10	77	0	0	0	0.003163	0	10	77				
FAM178A	55719	broad.mit.edu	37	10	102677018	102677018	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:102677018G>A	ENST00000238961.4	+	3	1418	c.876G>A	c.(874-876)caG>caA	p.Q292Q	FAM178A_ENST00000370269.3_Silent_p.Q292Q|FAM178A_ENST00000370271.3_Silent_p.Q292Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	292						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.Q292Q(1)									AAAGGAAACAGAATGACATCA	0.318																																							uc001krt.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(874-876)CAG>CAA		hypothetical protein LOC55719 isoform 1							51.0	56.0	54.0					10																	102677018		2203	4300	6503	SO:0001819	synonymous_variant	55719							g.chr10:102677018G>A	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.876G>A	10.37:g.102677018G>A						FAM178A_uc001krr.1_Silent_p.Q292Q|FAM178A_uc001krs.2_Silent_p.Q292Q|FAM178A_uc001kru.1_Silent_p.Q228Q	p.Q292Q	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			3	1418	+			292					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.876G>A	CCDS7500.1																																																																																				0.318	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			14	100	0	0	0	0.016723	0	14	100				
Unknown	0	broad.mit.edu	37	10	135491103	135491103	+	IGR	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr10:135491103G>T								AL845259.1 (17924 upstream) : None (None downstream)																							CTCCCTCGTGGGTCGCCTTCG	0.766																																							uc010qvi.1		NA																	0					0						c.(712-714)TGG>TGT		double homeobox, 4-like																																				SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491103G>T																													10.37:g.135491103G>T							p.W238C	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	825	+			238						Missense_Mutation	SNP		37	c.714G>T																																																																																				0	0.766									3	27	1	0	1.08611e-07	0.010729	1.275e-07	3	27				
SIRT3	23410	broad.mit.edu	37	11	224185	224185	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:224185T>C	ENST00000382743.4	-	5	964	c.862A>G	c.(862-864)Aag>Gag	p.K288E	SIRT3_ENST00000528702.1_5'Flank|SIRT3_ENST00000532956.1_Intron|SIRT3_ENST00000524564.1_Missense_Mutation_p.K224E|SIRT3_ENST00000529382.1_Missense_Mutation_p.K146E|SIRT3_ENST00000525319.1_Missense_Mutation_p.K207E	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	288	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)	p.K288E(1)		endometrium(1)|lung(5)|urinary_tract(1)	7		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;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		ATGTCGGGCTTCACAACGCCG	0.587																																							uc001lok.3		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(862-864)AAG>GAG		sirtuin 3 isoform a							69.0	62.0	64.0					11																	224185		2203	4300	6503	SO:0001583	missense	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:224185T>C	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.862A>G	11.37:g.224185T>C	ENSP00000372191:p.Lys288Glu					SIRT3_uc001loj.3_Missense_Mutation_p.K146E|SIRT3_uc010qvm.1_Missense_Mutation_p.K224E|SIRT3_uc010qvn.1_Missense_Mutation_p.K207E|SIRT3_uc010qvo.1_Missense_Mutation_p.K288E|SIRT3_uc010qvp.1_Intron|SIRT3_uc010qvq.1_Missense_Mutation_p.K146E|SIRT3_uc009ybt.1_RNA	p.K288E	NM_012239	NP_036371	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	5	896	-		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)	288			Deacetylase sirtuin-type.		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	ENST00000382743.4	37	c.862A>G	CCDS7691.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.668193	0.67814	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000529382	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.67268	0.2875	H	0.98407	4.225	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.997;0.997	T	0.80999	-0.1131	10	0.87932	D	0	-28.2275	14.0224	0.64563	0.0:0.0:0.0:1.0	.	288;207;224;288	B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;SIRT3_HUMAN	E	288;207;224;146	ENSP00000372191:K288E;ENSP00000435464:K207E;ENSP00000432937:K224E;ENSP00000437216:K146E	ENSP00000372191:K288E	K	-	1	0	SIRT3	214185	1.000000	0.71417	0.824000	0.32777	0.094000	0.18550	7.974000	0.88039	1.976000	0.57569	0.528000	0.53228	AAG		0.587	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			3	82	0	0	0	0.004672	0	3	82				
PTPRJ	5795	broad.mit.edu	37	11	48181542	48181542	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:48181542G>T	ENST00000418331.2	+	22	3851	c.3499G>T	c.(3499-3501)Gca>Tca	p.A1167S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1167	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.A1167S(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CATAACTGTGGCAATGACATC	0.398																																							uc001ngp.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(3499-3501)GCA>TCA		protein tyrosine phosphatase, receptor type, J							131.0	116.0	121.0					11																	48181542		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48181542G>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3499G>T	11.37:g.48181542G>T	ENSP00000400010:p.Ala1167Ser						p.A1167S	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			22	3854	+			1167			Tyrosine-protein phosphatase.|Cytoplasmic (Potential).		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.3499G>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853581	0.71719	.	.	ENSG00000149177	ENST00000418331	D	0.83163	-1.69	5.72	1.71	0.24356	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.	.	.	.	T	0.67192	0.2867	N	0.02103	-0.685	0.80722	D	1	P	0.52316	0.952	P	0.58721	0.844	T	0.60367	-0.7277	9	0.15066	T	0.55	.	3.8197	0.08830	0.2363:0.0:0.4752:0.2885	.	1167	Q12913	PTPRJ_HUMAN	S	1167	ENSP00000400010:A1167S	ENSP00000400010:A1167S	A	+	1	0	PTPRJ	48138118	0.979000	0.34478	0.993000	0.49108	0.995000	0.86356	1.281000	0.33214	0.068000	0.16574	0.650000	0.86243	GCA		0.398	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			69	156	1	0	1.48005e-37	0.01441	1.80006e-37	69	156				
ZDHHC5	25921	broad.mit.edu	37	11	57449913	57449913	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:57449913T>A	ENST00000287169.3	+	3	1486	c.124T>A	c.(124-126)Tat>Aat	p.Y42N	ZDHHC5_ENST00000527985.1_De_novo_Start_OutOfFrame	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	42					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Y42N(1)		endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						ACTAAGCCTGTATGTGTCACC	0.443																																							uc001nkx.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(124-126)TAT>AAT		zinc finger, DHHC domain containing 5							185.0	154.0	165.0					11																	57449913		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57449913T>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.124T>A	11.37:g.57449913T>A	ENSP00000287169:p.Tyr42Asn					ZDHHC5_uc001nky.1_5'UTR|ZDHHC5_uc001nkz.1_5'UTR	p.Y42N	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN			3	1380	+			42			Helical; (Potential).		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.124T>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	T	9.088	1.000933	0.19121	.	.	ENSG00000156599	ENST00000287169	D	0.95724	-3.79	4.96	-0.411	0.12370	.	0.930007	0.09295	N	0.821792	D	0.89983	0.6873	L	0.36672	1.1	0.32095	N	0.591356	B	0.02656	0.0	B	0.01281	0.0	T	0.79874	-0.1619	10	0.15952	T	0.53	1.0763	6.9374	0.24474	0.2448:0.0:0.3802:0.375	.	42	Q9C0B5	ZDHC5_HUMAN	N	42	ENSP00000287169:Y42N	ENSP00000287169:Y42N	Y	+	1	0	ZDHHC5	57206489	0.000000	0.05858	0.839000	0.33178	0.997000	0.91878	-0.101000	0.10973	-0.231000	0.09825	0.459000	0.35465	TAT		0.443	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		21	121	0	0	0	0.016522	0	21	121				
MS4A4A	51338	broad.mit.edu	37	11	60070165	60070165	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:60070165G>T	ENST00000337908.4	+	5	611	c.521G>T	c.(520-522)tGt>tTt	p.C174F	MS4A4A_ENST00000395016.3_Missense_Mutation_p.C155F|MS4A4A_ENST00000355131.3_Missense_Mutation_p.C155F|MS4A4A_ENST00000532114.1_Intron	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	174						integral component of membrane (GO:0016021)		p.C174F(1)|p.C155F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TCAAATAATTGTCATGGGACT	0.408																																							uc001noz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(520-522)TGT>TTT		membrane-spanning 4-domains, subfamily A, member							162.0	139.0	147.0					11																	60070165		2203	4300	6503	SO:0001583	missense	51338					integral to membrane	receptor activity	g.chr11:60070165G>T	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.521G>T	11.37:g.60070165G>T	ENSP00000338648:p.Cys174Phe					MS4A4A_uc001npa.2_Missense_Mutation_p.C155F|MS4A4A_uc001npb.2_Missense_Mutation_p.C155F|MS4A4A_uc001npc.2_Intron	p.C174F	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN			5	531	+			174			Extracellular (Potential).		Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	ENST00000337908.4	37	c.521G>T	CCDS7982.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996476	0.35226	.	.	ENSG00000110079	ENST00000337908;ENST00000355131;ENST00000395016	T;T;T	0.02345	4.33;4.33;4.33	3.12	3.12	0.35913	.	0.142622	0.47852	U	0.000218	T	0.14270	0.0345	M	0.90759	3.145	0.09310	N	1	D	0.65815	0.995	P	0.62014	0.897	T	0.01814	-1.1268	10	0.52906	T	0.07	-11.8336	9.9611	0.41697	0.0:0.0:1.0:0.0	.	174	Q96JQ5	M4A4A_HUMAN	F	174;155;155	ENSP00000338648:C174F;ENSP00000347252:C155F;ENSP00000378462:C155F	ENSP00000338648:C174F	C	+	2	0	MS4A4A	59826741	0.364000	0.24997	0.009000	0.14445	0.003000	0.03518	3.327000	0.52045	2.016000	0.59253	0.467000	0.42956	TGT		0.408	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			5	157	1	0	5.9392e-07	0.001168	6.912e-07	5	157				
OR10G7	390265	broad.mit.edu	37	11	123909325	123909325	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr11:123909325C>T	ENST00000330487.5	-	1	392	c.384G>A	c.(382-384)ccG>ccA	p.P128P		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P128P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTACCTGAGCGGGTAACTGA	0.562																																							uc001pzq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(382-384)CCG>CCA		olfactory receptor, family 10, subfamily G,							172.0	159.0	163.0					11																	123909325		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909325C>T	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.384G>A	11.37:g.123909325C>T							p.P128P	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	384	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	128			Cytoplasmic (Potential).		Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.384G>A	CCDS31705.1																																																																																				0.562	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		12	343	0	0	0	0.010729	0	12	343				
B4GALNT3	283358	broad.mit.edu	37	12	654047	654047	+	Splice_Site	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:654047G>C	ENST00000266383.5	+	5	460		c.e5-1		B4GALNT3_ENST00000544638.1_Splice_Site	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TCTTGGCATAGATTCGCACAA	0.547																																							uc001qii.1		NA																	1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e5-1		beta							92.0	82.0	86.0					12																	654047		2203	4300	6503	SO:0001630	splice_region_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:654047G>C	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.448-1G>C	12.37:g.654047G>C						B4GALNT3_uc001qij.1_Splice_Site_p.I52_splice	p.I150_splice	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		5	448	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)							Q6ZNC1|Q8N7T6	Splice_Site	SNP	ENST00000266383.5	37	c.448_splice	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770033	0.69992	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5409	0.95273	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	B4GALNT3	524308	1.000000	0.71417	0.916000	0.36221	0.684000	0.39900	9.372000	0.97165	2.614000	0.88457	0.561000	0.74099	.		0.547	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	Intron	4	89	0	0	0	0.009096	0	4	89				
ZNF384	171017	broad.mit.edu	37	12	6788136	6788136	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:6788136G>A	ENST00000396801.3	-	4	487	c.280C>T	c.(280-282)Ccg>Tcg	p.P94S	ZNF384_ENST00000355772.4_Missense_Mutation_p.P94S|ZNF384_ENST00000319770.3_Missense_Mutation_p.P94S|ZNF384_ENST00000396795.1_Missense_Mutation_p.P94S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P94S|ZNF384_ENST00000361959.3_Missense_Mutation_p.P94S	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	94					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P94S(2)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CCTGTAGACGGCACAGGGACC	0.562			T	"""EWSR1, TAF15 """	ALL																																		uc010sfh.1		NA		Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	EWSR1|TAF15 		ALL	EWSR1/ZNF384(4)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						c.(280-282)CCG>TCG		nuclear matrix transcription factor 4 isoform d							152.0	147.0	149.0					12																	6788136		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6788136G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.280C>T	12.37:g.6788136G>A	ENSP00000380019:p.Pro94Ser					ZNF384_uc001qpz.2_Missense_Mutation_p.P94S|ZNF384_uc001qqa.2_Missense_Mutation_p.P94S|ZNF384_uc001qqb.2_Missense_Mutation_p.P94S|ZNF384_uc001qqc.2_Missense_Mutation_p.P94S|ZNF384_uc001qqd.2_Missense_Mutation_p.P94S|ZNF384_uc001qqe.2_Missense_Mutation_p.P94S|ZNF384_uc009zew.1_5'Flank	p.P94S	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN			4	488	-			94					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.280C>T	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222506	0.79464	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485;ENST00000538829;ENST00000542351;ENST00000544482;ENST00000537248	T;T;T;T;T;T;T	0.11712	3.07;2.85;2.75;2.75;2.93;2.85;3.38	5.24	5.24	0.73138	.	0.057591	0.64402	D	0.000001	T	0.21631	0.0521	L	0.43923	1.385	0.80722	D	1	P;D;P;P	0.55605	0.952;0.972;0.873;0.952	P;P;B;B	0.54100	0.606;0.742;0.439;0.439	T	0.00163	-1.1969	10	0.87932	D	0	-10.6194	19.0331	0.92965	0.0:0.0:1.0:0.0	.	94;94;94;94	Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	S	94	ENSP00000321650:P94S;ENSP00000380013:P94S;ENSP00000380019:P94S;ENSP00000354592:P94S;ENSP00000348018:P94S;ENSP00000380017:P94S;ENSP00000412911:P94S	ENSP00000321650:P94S	P	-	1	0	ZNF384	6658397	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.724000	0.93272	0.561000	0.74099	CCG		0.562	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			5	181	0	0	0	0.014758	0	5	181				
LRRK2	120892	broad.mit.edu	37	12	40709014	40709014	+	Splice_Site	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:40709014G>A	ENST00000298910.7	+	33	4797	c.4739G>A	c.(4738-4740)gGa>gAa	p.G1580E	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1580					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.G1580E(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTACTACAGGAGTCCTTCTT	0.393																																							uc001rmg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(4738-4740)GGA>GAA		leucine-rich repeat kinase 2							202.0	189.0	193.0					12																	40709014		2203	4300	6503	SO:0001630	splice_region_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40709014G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4739-1G>A	12.37:g.40709014G>A						LRRK2_uc009zjw.2_Missense_Mutation_p.G418E|LRRK2_uc001rmi.2_Missense_Mutation_p.G413E	p.G1580E	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			33	4860	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1580					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4739G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915672	0.92178	.	.	ENSG00000188906	ENST00000298910	D	0.89485	-2.52	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94390	0.7613	9	.	.	.	.	19.3346	0.94309	0.0:0.0:1.0:0.0	.	1580;1580	Q17RV3;Q5S007	.;LRRK2_HUMAN	E	1580	ENSP00000298910:G1580E	.	G	+	2	0	LRRK2	38995281	1.000000	0.71417	0.958000	0.39756	0.987000	0.75469	9.170000	0.94795	2.549000	0.85964	0.650000	0.86243	GGA		0.393	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Missense_Mutation	7	659	0	0	0	0.001984	0	7	659				
USP15	9958	broad.mit.edu	37	12	62783684	62783684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:62783684C>A	ENST00000280377.5	+	14	1818	c.1760C>A	c.(1759-1761)tCa>tAa	p.S587*	USP15_ENST00000393654.3_Nonsense_Mutation_p.S562*|USP15_ENST00000353364.3_Nonsense_Mutation_p.S558*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	587	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S558*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACTGGTTCTTCACTTTTTGGT	0.393																																					Melanoma(181;615 2041 39364 49691 50001)	Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1759-1761)TCA>TAA		ubiquitin specific peptidase 15							88.0	81.0	84.0					12																	62783684		2203	4300	6503	SO:0001587	stop_gained	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62783684C>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1760C>A	12.37:g.62783684C>A	ENSP00000280377:p.Ser587*					USP15_uc001srb.1_Nonsense_Mutation_p.S558*	p.S587*	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	14	1769	+			587					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Nonsense_Mutation	SNP	ENST00000280377.5	37	c.1760C>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	35	5.489285	0.96323	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	.	.	.	5.72	5.72	0.89469	.	0.305500	0.31721	N	0.007162	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0578	15.0291	0.71694	0.0:0.9303:0.0:0.0697	.	.	.	.	X	558;587;562	.	.	S	+	2	0	USP15	61069951	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.811000	0.55620	2.711000	0.92665	0.655000	0.94253	TCA		0.393	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		7	71	1	0	3.86212e-05	0.008291	4.3814e-05	7	71				
TPCN1	53373	broad.mit.edu	37	12	113729448	113729448	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:113729448G>A	ENST00000335509.6	+	24	2308	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H	TPCN1_ENST00000550785.1_Missense_Mutation_p.R737H|TPCN1_ENST00000541517.1_Missense_Mutation_p.R737H|TPCN1_ENST00000392569.4_Missense_Mutation_p.R597H	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	665					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.R665H(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CACTGGAGCCGCCTCTACTTC	0.592																																							uc001tuw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1993-1995)CGC>CAC		two pore segment channel 1 isoform 2							69.0	55.0	60.0					12																	113729448		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113729448G>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1994G>A	12.37:g.113729448G>A	ENSP00000335300:p.Arg665His					TPCN1_uc001tux.2_Missense_Mutation_p.R737H|TPCN1_uc010syu.1_5'Flank	p.R665H	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			24	2291	+			665			Extracellular (Potential).		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.1994G>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609493	0.96637	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7	5.46	5.46	0.80206	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	M	0.63208	1.945	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.954	D	0.97255	0.9900	10	0.15499	T	0.54	-26.5739	19.6891	0.95991	0.0:0.0:1.0:0.0	.	737;665	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	H	665;737;737;597	ENSP00000335300:R665H;ENSP00000448083:R737H;ENSP00000438125:R737H;ENSP00000376350:R597H	ENSP00000335300:R665H	R	+	2	0	TPCN1	112213831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.313000	0.96297	2.706000	0.92434	0.655000	0.94253	CGC		0.592	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		4	20	0	0	0	0.009096	0	4	20				
CIT	11113	broad.mit.edu	37	12	120128147	120128147	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr12:120128147G>A	ENST00000261833.7	-	46	5921	c.5869C>T	c.(5869-5871)Cac>Tac	p.H1957Y	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.H1999Y	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1957					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.H1985Y(1)|p.H1999Y(1)|p.H1957Y(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CGGTAGCGGTGGGGTGTGCTT	0.726																																							uc001txi.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(5869-5871)CAC>TAC		citron							14.0	16.0	15.0					12																	120128147		2198	4285	6483	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120128147G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5869C>T	12.37:g.120128147G>A	ENSP00000261833:p.His1957Tyr					CIT_uc001txh.1_Missense_Mutation_p.H1475Y|CIT_uc001txj.1_Missense_Mutation_p.H1999Y	p.H1957Y	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	46	5922	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1957			SH3-binding (Potential).		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.5869C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833742	0.91036	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.67171	-0.2;-0.25	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.77870	0.4195	L	0.60455	1.87	0.53688	D	0.999976	D;D;D	0.59357	0.985;0.985;0.978	P;P;P	0.58721	0.777;0.777;0.844	T	0.79334	-0.1846	10	0.87932	D	0	.	19.7507	0.96267	0.0:0.0:1.0:0.0	.	1999;1957;1474	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	Y	1999;1957	ENSP00000376306:H1999Y;ENSP00000261833:H1957Y	ENSP00000261833:H1957Y	H	-	1	0	CIT	118612530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	2.722000	0.93159	0.655000	0.94253	CAC		0.726	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		6	14	0	0	0	0.00308	0	6	14				
NUPL1	9818	broad.mit.edu	37	13	25905666	25905666	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr13:25905666A>G	ENST00000381736.3	+	13	1655	c.1405A>G	c.(1405-1407)Aca>Gca	p.T469A	NUPL1_ENST00000463407.1_Missense_Mutation_p.T469A|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.T457A	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	469	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)	p.T469A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CATGGCTGCAACACTTACACA	0.488																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	uc001uqi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)ACA>GCA		nucleoporin like 1 isoform a							81.0	67.0	72.0					13																	25905666		2203	4300	6503	SO:0001583	missense	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25905666A>G	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1405A>G	13.37:g.25905666A>G	ENSP00000371155:p.Thr469Ala					NUPL1_uc001uqg.1_Missense_Mutation_p.T469A|NUPL1_uc001uqj.2_Missense_Mutation_p.T457A	p.T469A	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	13	1651	+		Lung SC(185;0.0225)|Breast(139;0.0351)	469			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	37	c.1405A>G	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348320	0.82132	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.48522	1.43;1.36;1.42;1.39;0.81	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	L	0.53249	1.67	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.996	D;D;D	0.77557	0.99;0.99;0.987	T	0.57780	-0.7752	10	0.23302	T	0.38	-17.6538	16.5446	0.84426	1.0:0.0:0.0:0.0	.	457;469;469	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	A	469;457;446;469;457;469;416	ENSP00000371155:T469A;ENSP00000418555:T469A;ENSP00000371137:T457A;ENSP00000371166:T469A;ENSP00000408147:T416A	ENSP00000318459:T446A	T	+	1	0	NUPL1	24803666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.128000	0.77217	2.311000	0.77944	0.533000	0.62120	ACA		0.488	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			10	16	0	0	0	0.008871	0	10	16				
KL	9365	broad.mit.edu	37	13	33629297	33629297	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr13:33629297C>T	ENST00000380099.3	+	3	1452	c.1444C>T	c.(1444-1446)Cta>Tta	p.L482L	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Silent_p.L175L	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	482	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.L482L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGTTGACTTTCTAAGCCAGGA	0.483																																							uc001uus.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1444-1446)CTA>TTA		klotho precursor							212.0	176.0	188.0					13																	33629297		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33629297C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1444C>T	13.37:g.33629297C>T						KL_uc001uur.1_Silent_p.L175L	p.L482L	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	3	1452	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	482			Glycosyl hydrolase-1 1.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.1444C>T	CCDS9347.1																																																																																				0.483	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			11	203	0	0	0	0.020292	0	11	203				
SCEL	8796	broad.mit.edu	37	13	78176221	78176221	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr13:78176221G>A	ENST00000349847.3	+	16	1023	c.939G>A	c.(937-939)ccG>ccA	p.P313P	SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000377246.3_Silent_p.P293P|SCEL_ENST00000535157.1_Silent_p.P291P|SCEL-AS1_ENST00000457528.2_RNA	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	313	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.P313P(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTGGAAGTCCGATTAAAGTTA	0.378																																							uc001vki.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(1)	5						c.(937-939)CCG>CCA		sciellin isoform 1							79.0	80.0	80.0					13																	78176221		2203	4300	6503	SO:0001819	synonymous_variant	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78176221G>A	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.939G>A	13.37:g.78176221G>A						SCEL_uc001vkj.2_Silent_p.P293P|SCEL_uc010thx.1_Silent_p.P291P	p.P313P	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	16	1109	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	313			16 X approximate tandem repeats.|4.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP	ENST00000349847.3	37	c.939G>A	CCDS9459.1																																																																																				0.378	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		9	59	0	0	0	0.008291	0	9	59				
ABHD12B	145447	broad.mit.edu	37	14	51352529	51352529	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:51352529C>T	ENST00000337334.2	+	7	593	c.578C>T	c.(577-579)aCg>aTg	p.T193M	ABHD12B_ENST00000395752.1_Missense_Mutation_p.T86M|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.T116M|ABHD12B_ENST00000554241.1_3'UTR	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	193							hydrolase activity (GO:0016787)	p.T116M(1)|p.T193M(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GGACTGACTACGGATGCCATT	0.522																																							uc001wys.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(577-579)ACG>ATG		abhydrolase domain containing 12B isoform b							189.0	173.0	179.0					14																	51352529		2203	4300	6503	SO:0001583	missense	145447						hydrolase activity	g.chr14:51352529C>T	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.578C>T	14.37:g.51352529C>T	ENSP00000336693:p.Thr193Met					ABHD12B_uc001wyq.2_Missense_Mutation_p.T86M|ABHD12B_uc001wyr.2_Missense_Mutation_p.T116M|ABHD12B_uc010any.2_Intron	p.T193M	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN			7	593	+	all_epithelial(31;0.00481)|Breast(41;0.148)		193					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	c.578C>T	CCDS55916.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829768	0.32329	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.21734	1.99;1.99;1.99	5.76	-2.63	0.06133	.	1.157390	0.06183	N	0.679782	T	0.19967	0.0480	M	0.78049	2.395	0.09310	N	1	P;P	0.41159	0.74;0.626	B;B	0.29862	0.108;0.103	T	0.37842	-0.9688	10	0.39692	T	0.17	-15.9928	7.8495	0.29446	0.1207:0.6524:0.1206:0.1064	.	193;116	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	M	116;193;86	ENSP00000343951:T116M;ENSP00000336693:T193M;ENSP00000379101:T86M	ENSP00000336693:T193M	T	+	2	0	ABHD12B	50422279	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	-1.148000	0.03185	-0.179000	0.10654	-0.290000	0.09829	ACG		0.522	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			6	264	0	0	0	0.001168	0	6	264				
SPTB	6710	broad.mit.edu	37	14	65239968	65239968	+	Silent	SNP	C	C	A	rs539974597		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:65239968C>A	ENST00000389721.5	-	24	5180	c.5148G>T	c.(5146-5148)ccG>ccT	p.P1716P	SPTB_ENST00000542895.1_Silent_p.P1716P|SPTB_ENST00000556626.1_Silent_p.P1716P|SPTB_ENST00000389720.3_Silent_p.P1716P|SPTB_ENST00000389722.3_Silent_p.P1716P	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1716					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.P1716P(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCCATTTCCGGGGAAGAGG	0.542																																							uc001xht.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(5146-5148)CCG>CCT		spectrin beta isoform b							89.0	79.0	82.0					14																	65239968		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65239968C>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5148G>T	14.37:g.65239968C>A						SPTB_uc001xhr.2_Silent_p.P1716P|SPTB_uc001xhs.2_Silent_p.P1716P|SPTB_uc001xhu.2_Silent_p.P1716P|SPTB_uc010aqi.2_Silent_p.P377P	p.P1716P	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	24	5202	-		all_lung(585;4.15e-09)	1716			Spectrin 14.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.5148G>T	CCDS32100.1																																																																																				0.542	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			6	65	1	0	2.0095e-06	0.001984	2.31865e-06	6	65				
UNC79	57578	broad.mit.edu	37	14	94173127	94173127	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:94173127G>A	ENST00000393151.2	+	50	7785	c.7785G>A	c.(7783-7785)ccG>ccA	p.P2595P	UNC79_ENST00000256339.4_Silent_p.P2418P|UNC79_ENST00000553484.1_Silent_p.P2617P|UNC79_ENST00000555664.1_Silent_p.P2556P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2595					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2418P(1)|p.P2617P(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGACGCTGCCGGGCTCGGGCC	0.592																																							uc001ybv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(7318-7320)CCG>CCA		hypothetical protein LOC57578							67.0	71.0	70.0					14																	94173127		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94173127G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7785G>A	14.37:g.94173127G>A						KIAA1409_uc001ybs.1_Silent_p.P2418P	p.P2440P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	48	7403	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2595					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.7320G>A																																																																																					0.592	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		8	84	0	0	0	0.006214	0	8	84				
DYNC1H1	1778	broad.mit.edu	37	14	102493718	102493718	+	Splice_Site	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr14:102493718A>G	ENST00000360184.4	+	46	9050		c.e46-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGCTTCTGTAGGTCCATAGG	0.453																																							uc001yks.2		NA																	1	Unknown(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.e46-2		cytoplasmic dynein 1 heavy chain 1							109.0	100.0	103.0					14																	102493718		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102493718A>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8887-1A>G	14.37:g.102493718A>G							p.V2963_splice	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			46	9051	+								B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37	c.8887_splice	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.525331	0.44969	.	.	ENSG00000197102	ENST00000360184	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6245	0.84952	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101563471	1.000000	0.71417	0.938000	0.37757	0.308000	0.27856	9.021000	0.93673	2.323000	0.78572	0.528000	0.53228	.		0.453	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Intron	3	125	0	0	0	0.004672	0	3	125				
NIPA2	81614	broad.mit.edu	37	15	23002904	23002904	+	IGR	SNP	G	G	A	rs140750865		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr15:23002904G>A	ENST00000337451.3	-	0	3233				CYFIP1_ENST00000435939.2_Missense_Mutation_p.R778H|CYFIP1_ENST00000560848.1_Missense_Mutation_p.R1209H|CYFIP1_ENST00000313077.7_Missense_Mutation_p.R1209H	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2							early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.R1209H(1)|p.R778H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		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;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GAGAGAATTCGCAAGTTCCAG	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17600	0.0		0.0	False		,,,				2504	0.0						uc001yus.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(3625-3627)CGC>CAC		cytoplasmic FMR1 interacting protein 1 isoform		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	94.0	96.0		2333,3626	5.3	1.0	15	dbSNP_134	96	0,8600		0,0,4300	no	missense,missense	CYFIP1	NM_001033028.1,NM_014608.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	778/823,1209/1254	23002904	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:23002904G>A	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101		15.37:g.23002904G>A						CYFIP1_uc001yut.2_Missense_Mutation_p.R1209H|CYFIP1_uc001yuu.2_Missense_Mutation_p.R778H|CYFIP1_uc001yuv.2_Missense_Mutation_p.R403H	p.R1209H	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	31	3730	+		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)	1209					F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	c.3626G>A	CCDS10010.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.160847	0.94727	2.27E-4	0.0	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.27890	1.64;1.64	6.17	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.54743	0.1877	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69307	0.952;0.963	T	0.56074	-0.8039	10	0.40728	T	0.16	-30.6569	15.7563	0.78030	0.065:0.0:0.935:0.0	.	778;1209	Q7L576-2;Q7L576	.;CYFP1_HUMAN	H	1209;1211;778	ENSP00000324549:R1209H;ENSP00000405956:R778H	ENSP00000324549:R1209H	R	+	2	0	CYFIP1	20554345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	1.626000	0.50381	0.655000	0.94253	CGC		0.443	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		4	164	0	0	0	0.014758	0	4	164				
FBN1	2200	broad.mit.edu	37	15	48818423	48818423	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr15:48818423T>C	ENST00000316623.5	-	9	1347	c.892A>G	c.(892-894)Atc>Gtc	p.I298V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	298	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I298V(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTTCACAGATTCCAGGAATG	0.403																																							uc001zwx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(892-894)ATC>GTC		fibrillin 1 precursor							92.0	87.0	89.0					15																	48818423		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48818423T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.892A>G	15.37:g.48818423T>C	ENSP00000325527:p.Ile298Val						p.I298V	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	9	1220	-		all_lung(180;0.00279)	298			EGF-like 5; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.892A>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	8.345	0.829616	0.16749	.	.	ENSG00000166147	ENST00000316623	D	0.91577	-2.87	5.63	3.05	0.35203	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.225482	0.46145	N	0.000319	T	0.80819	0.4696	N	0.26130	0.795	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.69978	-0.4998	10	0.09590	T	0.72	.	9.1535	0.36978	0.0:0.1988:0.0:0.8012	.	298	P35555	FBN1_HUMAN	V	298	ENSP00000325527:I298V	ENSP00000325527:I298V	I	-	1	0	FBN1	46605715	0.160000	0.22878	0.980000	0.43619	0.898000	0.52572	0.291000	0.18994	1.083000	0.41159	0.533000	0.62120	ATC		0.403	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			3	116	0	0	0	0.004672	0	3	116				
DAPK2	23604	broad.mit.edu	37	15	64263636	64263636	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr15:64263636G>A	ENST00000457488.1	-	4	469	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000261891.3_Missense_Mutation_p.H147Y|DAPK2_ENST00000558069.1_Missense_Mutation_p.H147Y	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)	p.H147Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGATCAAAGTGAGCAATTTTC	0.493																																							uc002amr.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(1)|central_nervous_system(1)	2						c.(439-441)CAC>TAC		death-associated kinase 2							184.0	175.0	178.0					15																	64263636		2203	4300	6503	SO:0001583	missense	23604				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding	g.chr15:64263636G>A	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.439C>T	15.37:g.64263636G>A	ENSP00000408277:p.His147Tyr					DAPK2_uc010uim.1_RNA|DAPK2_uc010bgu.1_Missense_Mutation_p.H137Y	p.H147Y	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN		LUAD - Lung adenocarcinoma(2;0.215)	4	470	-			147			Protein kinase.		E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	ENST00000457488.1	37	c.439C>T	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932643	0.92458	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.78481	-1.18;-1.18	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87481	0.6188	M	0.68728	2.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88241	0.2910	10	0.87932	D	0	.	18.5283	0.90981	0.0:0.0:1.0:0.0	.	147;147	E9JGM7;Q9UIK4	.;DAPK2_HUMAN	Y	147	ENSP00000261891:H147Y;ENSP00000408277:H147Y	ENSP00000261891:H147Y	H	-	1	0	DAPK2	62050689	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.695000	0.91970	0.462000	0.41574	CAC		0.493	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326		95	192	0	0	0	0.01441	0	95	192				
APOBR	55911	broad.mit.edu	37	16	28509145	28509145	+	Missense_Mutation	SNP	G	G	A	rs547898440		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr16:28509145G>A	ENST00000431282.1	+	3	2766	c.2756G>A	c.(2755-2757)cGg>cAg	p.R919Q	APOBR_ENST00000564831.1_Missense_Mutation_p.R928Q|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.R919Q			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	919	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)	p.R919Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						ACCGGGGGCCGGAGGGCAGAG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		15221	0.0		0.0	False		,,,				2504	0.001						uc002dqb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2755-2757)CGG>CAG		apolipoprotein B48 receptor							19.0	24.0	22.0					16																	28509145		2187	4291	6478	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28509145G>A	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2756G>A	16.37:g.28509145G>A	ENSP00000416094:p.Arg919Gln					uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.R457Q	p.R919Q	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			3	2766	+			919			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.2756G>A		.	.	.	.	.	.	.	.	.	.	G	7.320	0.616720	0.14129	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.60040	0.22;0.22	4.25	1.98	0.26296	.	.	.	.	.	T	0.29458	0.0734	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.19257	-1.0311	9	0.20519	T	0.43	-0.6094	5.5195	0.16925	0.7509:0.0:0.2491:0.0	.	919;919	Q0VD83;Q9NS13	APOBR_HUMAN;.	Q	919	ENSP00000327669:R919Q;ENSP00000416094:R919Q	ENSP00000327669:R919Q	R	+	2	0	APOBR	28416646	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.713000	0.05007	0.167000	0.19631	-0.389000	0.06534	CGG		0.647	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		3	22	0	0	0	0.009096	0	3	22				
MYH3	4621	broad.mit.edu	37	17	10538773	10538773	+	Silent	SNP	C	C	T	rs151186379	byFrequency	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr17:10538773C>T	ENST00000583535.1	-	30	4170	c.4083G>A	c.(4081-4083)gcG>gcA	p.A1361A	MYH3_ENST00000226209.7_Silent_p.A1361A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1361					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.A1361A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTTGGACAGCGCCCTCTGCA	0.627																																							uc002gmq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4081-4083)GCG>GCA		myosin, heavy chain 3, skeletal muscle,		C		0,4406		0,0,2203	162.0	150.0	154.0		4083	-5.1	1.0	17	dbSNP_134	154	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MYH3	NM_002470.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1361/1941	10538773	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10538773C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4083G>A	17.37:g.10538773C>T							p.A1361A	NM_002470	NP_002461	P11055	MYH3_HUMAN			29	4160	-			1361			Potential.		Q15492	Silent	SNP	ENST00000583535.1	37	c.4083G>A	CCDS11157.1																																																																																				0.627	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		14	217	0	0	0	0.020292	0	14	217				
ZNF521	25925	broad.mit.edu	37	18	22806286	22806286	+	Silent	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr18:22806286A>G	ENST00000361524.3	-	4	1744	c.1596T>C	c.(1594-1596)atT>atC	p.I532I	ZNF521_ENST00000584787.1_Silent_p.I312I|ZNF521_ENST00000538137.2_Silent_p.I532I|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	532					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.I532I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAACCTGTCTAATATGCTCTT	0.448			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1594-1596)ATT>ATC		zinc finger protein 521							75.0	81.0	79.0					18																	22806286		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806286A>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1596T>C	18.37:g.22806286A>G						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.I532I|ZNF521_uc002kvl.2_Silent_p.I312I	p.I532I	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1843	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		532			C2H2-type 12.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.1596T>C	CCDS32806.1																																																																																				0.448	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		3	86	0	0	0	0.009096	0	3	86				
CNDP1	84735	broad.mit.edu	37	18	72250879	72250879	+	Silent	SNP	C	C	T	rs201554681	byFrequency	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr18:72250879C>T	ENST00000358821.3	+	11	1620	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	CNDP1_ENST00000582365.1_Silent_p.S421S	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	464						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.S464S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCCACAAGAGCGTGGTGCTAA	0.478													C|||	5	0.000998403	0.0	0.0	5008	,	,		17934	0.005		0.0	False		,,,				2504	0.0				Melanoma(32;1029 1042 25286 38395 44237)	Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1390-1392)AGC>AGT		carnosinase 1 precursor							172.0	140.0	151.0					18																	72250879		2203	4300	6503	SO:0001819	synonymous_variant	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72250879C>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1392C>T	18.37:g.72250879C>T						CNDP1_uc002lls.2_Silent_p.S267S	p.S464S	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	11	1603	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	464					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	ENST00000358821.3	37	c.1392C>T	CCDS12007.1																																																																																				0.478	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		6	128	0	0	0	0.001984	0	6	128				
DPY19L3	147991	broad.mit.edu	37	19	32930060	32930060	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:32930060G>A	ENST00000342179.5	+	7	854	c.639G>A	c.(637-639)gaG>gaA	p.E213E	DPY19L3_ENST00000392250.2_Silent_p.E213E|DPY19L3_ENST00000586987.1_Silent_p.E213E	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	213						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.E213E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CACTGAGGGAGAACTGGGCGC	0.373																																							uc002ntg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(637-639)GAG>GAA		dpy-19-like 3							170.0	166.0	168.0					19																	32930060		2203	4300	6503	SO:0001819	synonymous_variant	147991					integral to membrane		g.chr19:32930060G>A		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.639G>A	19.37:g.32930060G>A						DPY19L3_uc002nth.1_Silent_p.E213E|DPY19L3_uc002nti.1_RNA	p.E213E	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			7	815	+	Esophageal squamous(110;0.162)		213					Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	c.639G>A	CCDS12422.1																																																																																				0.373	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		12	170	0	0	0	0.016723	0	12	170				
DPY19L3	147991	broad.mit.edu	37	19	32930116	32930116	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:32930116G>C	ENST00000342179.5	+	7	910	c.695G>C	c.(694-696)aGa>aCa	p.R232T	DPY19L3_ENST00000392250.2_Missense_Mutation_p.R232T|DPY19L3_ENST00000586987.1_Missense_Mutation_p.R232T	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	232						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R232T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TATTTCCTGAGACCAAACTTA	0.358																																							uc002ntg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(694-696)AGA>ACA		dpy-19-like 3							131.0	129.0	129.0					19																	32930116		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32930116G>C		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.695G>C	19.37:g.32930116G>C	ENSP00000344937:p.Arg232Thr					DPY19L3_uc002nth.1_Missense_Mutation_p.R232T|DPY19L3_uc002nti.1_RNA	p.R232T	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			7	871	+	Esophageal squamous(110;0.162)		232			Helical; (Potential).		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.695G>C	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696869	0.88830	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.59502	0.26;0.26	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.82716	2.605	0.58432	D	0.999998	D	0.69078	0.997	D	0.65987	0.94	T	0.80607	-0.1307	10	0.66056	D	0.02	-20.0164	19.7468	0.96255	0.0:0.0:1.0:0.0	.	232	Q6ZPD9	D19L3_HUMAN	T	232	ENSP00000376081:R232T;ENSP00000344937:R232T	ENSP00000315672:R232T	R	+	2	0	DPY19L3	37621956	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.537000	0.73847	2.678000	0.91216	0.563000	0.77884	AGA		0.358	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		9	142	0	0	0	0.010729	0	9	142				
ZNF585A	199704	broad.mit.edu	37	19	37642866	37642866	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:37642866G>A	ENST00000356958.4	-	5	2193	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	ZNF585A_ENST00000292841.5_Silent_p.G590G|ZNF585A_ENST00000392157.2_Silent_p.G590G|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTTGACCTGCCACTAAAGG	0.488																																							uc002ofo.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1933-1935)GGC>GGT		zinc finger protein 585A							52.0	52.0	52.0					19																	37642866		2203	4300	6503	SO:0001819	synonymous_variant	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37642866G>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1935C>T	19.37:g.37642866G>A						ZNF585A_uc002ofm.1_Silent_p.G590G|ZNF585A_uc002ofn.1_Silent_p.G590G	p.G645G	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2166	-			645			C2H2-type 18.		Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	37	c.1935C>T																																																																																					0.488	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		10	41	0	0	0	0.020292	0	10	41				
SIPA1L3	23094	broad.mit.edu	37	19	38610025	38610025	+	Missense_Mutation	SNP	G	G	A	rs370149444		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:38610025G>A	ENST00000222345.6	+	9	2880	c.2371G>A	c.(2371-2373)Gtc>Atc	p.V791I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	791	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.V791I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAAATCCGACGTCTTCAGAGA	0.567																																							uc002ohk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2371-2373)GTC>ATC		signal-induced proliferation-associated 1 like		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	85.0	88.0	87.0		2371	5.8	1.0	19		87	0,8600		0,0,4300	no	missense	SIPA1L3	NM_015073.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	791/1782	38610025	1,13005	2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610025G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2371G>A	19.37:g.38610025G>A	ENSP00000222345:p.Val791Ile						p.V791I	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	2880	+			791			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2371G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428250	0.62844	2.27E-4	0.0	ENSG00000105738	ENST00000222345	T	0.52526	0.66	5.75	5.75	0.90469	Rap/ran-GAP (2);	0.199832	0.45606	D	0.000354	T	0.45597	0.1350	L	0.60455	1.87	0.34541	D	0.710272	B	0.21520	0.057	B	0.21917	0.037	T	0.55029	-0.8204	10	0.46703	T	0.11	-56.463	12.7738	0.57436	0.0783:0.0:0.9217:0.0	.	791	O60292	SI1L3_HUMAN	I	791	ENSP00000222345:V791I	ENSP00000222345:V791I	V	+	1	0	SIPA1L3	43301865	0.895000	0.30542	0.988000	0.46212	0.974000	0.67602	1.776000	0.38594	2.725000	0.93324	0.655000	0.94253	GTC		0.567	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		6	156	0	0	0	0.001168	0	6	156				
RASGRP4	115727	broad.mit.edu	37	19	38903681	38903681	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:38903681G>A	ENST00000587738.1	-	12	1495	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	RASGRP4_ENST00000433821.2_Silent_p.F383F|RASGRP4_ENST00000586305.1_Silent_p.F461F|RASGRP4_ENST00000293062.9_Silent_p.F378F|RASGRP4_ENST00000454404.2_Silent_p.F441F|RASGRP4_ENST00000587753.1_Silent_p.F406F|RASGRP4_ENST00000426920.2_Silent_p.F286F			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	475	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.F475F(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATAATTCTTGAACACAGACT	0.542																																							uc002oir.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)|lung(1)|skin(1)	3						c.(1423-1425)TTC>TTT		RAS guanyl releasing protein 4 isoform a							52.0	55.0	54.0					19																	38903681		1923	4140	6063	SO:0001819	synonymous_variant	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38903681G>A	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1425C>T	19.37:g.38903681G>A						RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Silent_p.F406F|RASGRP4_uc010xub.1_Silent_p.F441F|RASGRP4_uc010xuc.1_Silent_p.F383F|RASGRP4_uc010xud.1_Silent_p.F378F|RASGRP4_uc010xue.1_Silent_p.F286F|RASGRP4_uc010egb.2_Silent_p.F461F	p.F475F	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		12	1639	-	all_cancers(60;4.21e-06)		475			EF-hand.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	ENST00000587738.1	37	c.1425C>T	CCDS46068.1																																																																																				0.542	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		8	106	0	0	0	0.006214	0	8	106				
CYP2F1	1572	broad.mit.edu	37	19	41627459	41627459	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:41627459G>A	ENST00000331105.2	+	5	653	c.581G>A	c.(580-582)cGt>cAt	p.R194H		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	194					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.R194H(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GATGATGAGCGTCTGCTCACC	0.562																																							uc002opu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(580-582)CGT>CAT		cytochrome P450, family 2, subfamily F,							113.0	116.0	115.0					19																	41627459		2183	4299	6482	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41627459G>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.581G>A	19.37:g.41627459G>A	ENSP00000333534:p.Arg194His					CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.R194H|CYP2F1_uc002opv.1_RNA	p.R194H	NM_000774	NP_000765	P24903	CP2F1_HUMAN			5	637	+			194					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.581G>A	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642394	0.29246	.	.	ENSG00000197446	ENST00000331105	T	0.68903	-0.36	2.87	2.87	0.33458	.	0.714608	0.13306	U	0.397870	T	0.72036	0.3411	L	0.46947	1.48	0.24721	N	0.993149	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.963	T	0.58451	-0.7634	10	0.66056	D	0.02	.	5.7309	0.18038	0.154:0.0:0.846:0.0	.	194;194	Q32MN5;P24903	.;CP2F1_HUMAN	H	194	ENSP00000333534:R194H	ENSP00000333534:R194H	R	+	2	0	CYP2F1	46319299	0.000000	0.05858	0.112000	0.21494	0.210000	0.24377	0.058000	0.14301	1.461000	0.47929	0.064000	0.15345	CGT		0.562	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			19	149	0	0	0	0.007291	0	19	149				
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																							uc002orh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(280-282)GCA>ACA		carcinoembryonic antigen-related cell adhesion							166.0	157.0	160.0					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_uc010xwd.1_Missense_Mutation_p.A94T	p.A94T	NM_001817	NP_001808	O75871	CEAM4_HUMAN			2	391	-			94			Extracellular (Potential).|Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		5	263	0	0	0	0.001168	0	5	263				
PPP2R1A	5518	broad.mit.edu	37	19	52716329	52716329	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:52716329G>A	ENST00000322088.6	+	6	831	c.773G>A	c.(772-774)cGc>cAc	p.R258H	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R203H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R79H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	258	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.			R -> A (in Ref. 2; AAA36399). {ECO:0000305}.	apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R258H(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AAGTCCTGGCGCGTCCGCTAC	0.602			Mis		clear cell ovarian carcinoma																																		uc002pyp.2		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		5	Substitution - Missense(5)	p.R258C(1)	endometrium(3)|large_intestine(1)|lung(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(772-774)CGC>CAC		alpha isoform of regulatory subunit A, protein							45.0	41.0	42.0					19																	52716329		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52716329G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.773G>A	19.37:g.52716329G>A	ENSP00000324804:p.Arg258His					PPP2R1A_uc010ydk.1_Missense_Mutation_p.R203H|PPP2R1A_uc010epm.1_Missense_Mutation_p.R298H|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R79H	p.R258H	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	932	+			258	R -> A (in Ref. 2; AAA36399).		HEAT 7.|PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.773G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910787	0.92178	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06371	3.31;3.31	4.48	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000042	T	0.33118	0.0852	H	0.94620	3.56	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.997;0.997	D;B;B	0.65010	0.931;0.438;0.438	T	0.48352	-0.9043	10	0.87932	D	0	-12.8578	15.0762	0.72080	0.0:0.0:1.0:0.0	.	203;258;258	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	H	248;178;258;203	ENSP00000324804:R258H;ENSP00000415067:R203H	ENSP00000324804:R258H	R	+	2	0	PPP2R1A	57408141	1.000000	0.71417	0.961000	0.40146	0.965000	0.64279	8.389000	0.90172	2.490000	0.84030	0.655000	0.94253	CGC		0.602	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		5	39	0	0	0	0.001984	0	5	39				
ZNF534	147658	broad.mit.edu	37	19	52942354	52942354	+	Silent	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr19:52942354A>G	ENST00000332323.6	+	4	1741	c.1680A>G	c.(1678-1680)gaA>gaG	p.E560E	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.E547E	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATACTGGAGAAAAGCCTTACA	0.433																																							uc002pzk.2		NA																	0					0						c.(1678-1680)GAA>GAG		zinc finger protein 534 isoform 2							86.0	82.0	83.0					19																	52942354		692	1591	2283	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942354A>G	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1680A>G	19.37:g.52942354A>G						ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.E547E	p.E560E	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	1741	+			560					Q76KX9	Silent	SNP	ENST00000332323.6	37	c.1680A>G	CCDS46165.1																																																																																				0.433	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		3	19	0	0	0	0.009096	0	3	19				
MXD1	4084	broad.mit.edu	37	2	70164438	70164438	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:70164438G>A	ENST00000264444.2	+	5	650	c.390G>A	c.(388-390)aaG>aaA	p.K130K	MXD1_ENST00000540449.1_Silent_p.K120K	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	130					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)	p.K130K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GACACCTGAAGAGGCAGCTGG	0.572																																							uc002sfy.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(388-390)AAG>AAA		MAX dimerization protein 1							99.0	100.0	100.0					2																	70164438		2203	4300	6503	SO:0001819	synonymous_variant	4084				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:70164438G>A		CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.390G>A	2.37:g.70164438G>A						MXD1_uc010yqp.1_Silent_p.K130K|MXD1_uc010yqq.1_Silent_p.K67K|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Silent_p.K120K	p.K130K	NM_002357	NP_002348	Q05195	MAD1_HUMAN			5	650	+			130					B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Silent	SNP	ENST00000264444.2	37	c.390G>A	CCDS1896.1																																																																																				0.572	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357		25	112	0	0	0	0.009535	0	25	112				
DCTN1	1639	broad.mit.edu	37	2	74594501	74594501	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:74594501A>G	ENST00000361874.3	-	19	2548	c.2231T>C	c.(2230-2232)aTg>aCg	p.M744T	DCTN1_ENST00000407639.2_Missense_Mutation_p.M610T|DCTN1_ENST00000409567.3_Missense_Mutation_p.M724T|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Missense_Mutation_p.M737T|DCTN1_ENST00000409240.1_Missense_Mutation_p.M707T|DCTN1_ENST00000409438.1_Missense_Mutation_p.M610T|DCTN1_ENST00000409868.1_Missense_Mutation_p.M727T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	744					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.M744T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGCCAGCTGCATAGTACAGTC	0.537																																							uc002skx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2230-2232)ATG>ACG		dynactin 1 isoform 1							91.0	80.0	84.0					2																	74594501		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74594501A>G		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2231T>C	2.37:g.74594501A>G	ENSP00000354791:p.Met744Thr					DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.M610T|DCTN1_uc002sku.2_Missense_Mutation_p.M610T|DCTN1_uc002skw.1_Missense_Mutation_p.M720T|DCTN1_uc010ffd.2_Missense_Mutation_p.M724T|DCTN1_uc002sky.2_Missense_Mutation_p.M707T	p.M744T	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			19	2542	-			744					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2231T>C	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	A	2.808	-0.247583	0.05867	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.96	3.57	0.40892	.	0.643013	0.13844	N	0.358844	T	0.59418	0.2192	N	0.11560	0.145	0.45515	D	0.998479	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.003;0.0;0.0;0.001;0.0	T	0.47983	-0.9074	10	0.13108	T	0.6	-1.7624	6.8134	0.23817	0.7893:0.0:0.0741:0.1366	.	724;707;744;737;610;610	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	T	744;737;727;610;610;707;727;724	ENSP00000354791:M744T;ENSP00000377571:M737T;ENSP00000384844:M610T;ENSP00000387270:M610T;ENSP00000386406:M707T;ENSP00000387327:M727T;ENSP00000386843:M724T	ENSP00000354791:M744T	M	-	2	0	DCTN1	74448009	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.140000	0.64807	1.042000	0.40150	0.528000	0.53228	ATG		0.537	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		9	62	0	0	0	0.006214	0	9	62				
ZSWIM2	151112	broad.mit.edu	37	2	187702037	187702037	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:187702037A>G	ENST00000295131.2	-	5	778	c.739T>C	c.(739-741)Tat>Cat	p.Y247H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	247					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y247H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTTACTTATAACACTTCCCC	0.388																																							uc002upu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(739-741)TAT>CAT		zinc finger, SWIM domain containing 2							108.0	103.0	105.0					2																	187702037		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702037A>G	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.739T>C	2.37:g.187702037A>G	ENSP00000295131:p.Tyr247His						p.Y247H	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	779	-			247			ZZ-type.		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.739T>C	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093070	0.76756	.	.	ENSG00000163012	ENST00000295131	D	0.95342	-3.68	5.77	5.77	0.91146	Zinc finger, ZZ-type (4);	0.000000	0.45606	D	0.000359	D	0.97374	0.9141	M	0.87456	2.885	0.41293	D	0.986997	D	0.89917	1.0	D	0.87578	0.998	D	0.98258	1.0497	10	0.87932	D	0	.	13.6001	0.62013	1.0:0.0:0.0:0.0	.	247	Q8NEG5	ZSWM2_HUMAN	H	247	ENSP00000295131:Y247H	ENSP00000295131:Y247H	Y	-	1	0	ZSWIM2	187410282	1.000000	0.71417	0.992000	0.48379	0.927000	0.56198	5.081000	0.64444	2.203000	0.70933	0.482000	0.46254	TAT		0.388	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		8	110	0	0	0	0.004482	0	8	110				
TMEM169	92691	broad.mit.edu	37	2	216964796	216964796	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:216964796C>T	ENST00000295658.4	+	3	632	c.425C>T	c.(424-426)aCg>aTg	p.T142M	TMEM169_ENST00000406027.2_Missense_Mutation_p.T142M|TMEM169_ENST00000454545.1_Missense_Mutation_p.T142M|TMEM169_ENST00000437356.2_Missense_Mutation_p.T142M	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	142						integral component of membrane (GO:0016021)		p.T142M(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGGGAAACGACGCCTGAA	0.527																																							uc010zjr.1		NA																	2	Substitution - Missense(2)		ovary(1)|lung(1)	ovary(1)	1						c.(424-426)ACG>ATG		transmembrane protein 169							124.0	111.0	116.0					2																	216964796		2203	4300	6503	SO:0001583	missense	92691					integral to membrane		g.chr2:216964796C>T	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.425C>T	2.37:g.216964796C>T	ENSP00000295658:p.Thr142Met					TMEM169_uc010zjs.1_Missense_Mutation_p.T142M|TMEM169_uc002vfw.2_Missense_Mutation_p.T142M|TMEM169_uc002vfv.3_Missense_Mutation_p.T142M	p.T142M	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	751	+		Renal(323;0.0651)	142			Extracellular (Potential).		B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	c.425C>T	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	c	1.639	-0.517044	0.04171	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	4.93	1.09	0.20402	.	0.919644	0.09515	N	0.791733	T	0.14485	0.0350	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.27905	-1.0060	8	.	.	.	0.2833	0.6148	0.00767	0.2307:0.3206:0.1225:0.3262	.	142	Q96HH4	TM169_HUMAN	M	142	.	.	T	+	2	0	TMEM169	216673041	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.016000	0.13377	0.012000	0.14892	-0.735000	0.03563	ACG		0.527	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		18	102	0	0	0	0.008871	0	18	102				
VIL1	7429	broad.mit.edu	37	2	219301981	219301981	+	Silent	SNP	C	C	T	rs141506332	byFrequency	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:219301981C>T	ENST00000248444.5	+	17	2194	c.2106C>T	c.(2104-2106)caC>caT	p.H702H	VIL1_ENST00000392114.2_Silent_p.H391H	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	702	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.H702H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGGGACACGAGCCCCCCA	0.602																																							uc002via.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2104-2106)CAC>CAT		villin 1		C		8,4398	14.3+/-33.2	0,8,2195	115.0	98.0	104.0		2106	-3.6	0.4	2	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous	VIL1	NM_007127.2		0,8,6495	TT,TC,CC		0.0,0.1816,0.0615		702/828	219301981	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219301981C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2106C>T	2.37:g.219301981C>T						VIL1_uc010zke.1_Silent_p.H391H|VIL1_uc002vib.2_Silent_p.H702H	p.H702H	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2171	+		Renal(207;0.0474)	702			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.2106C>T	CCDS2417.1																																																																																				0.602	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		4	88	0	0	0	0.009096	0	4	88				
AGAP1	116987	broad.mit.edu	37	2	236659077	236659077	+	Silent	SNP	G	G	A	rs139143512	byFrequency	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr2:236659077G>A	ENST00000304032.8	+	6	1198	c.618G>A	c.(616-618)acG>acA	p.T206T	AGAP1_ENST00000428334.2_Silent_p.T45T|AGAP1_ENST00000409457.1_Silent_p.T206T|AGAP1_ENST00000336665.5_Silent_p.T206T|AGAP1_ENST00000409538.1_Silent_p.T471T	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	206	Small GTPase-like.				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)	p.T206T(1)		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						AACGGTGCACGTACTACGAGA	0.522																																							uc002vvs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(616-618)ACG>ACA		centaurin, gamma 2 isoform 1		G	,	2,4404	4.2+/-10.8	0,2,2201	260.0	210.0	227.0		618,618	-10.3	0.1	2	dbSNP_134	227	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AGAP1	NM_001037131.2,NM_014914.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	206/858,206/805	236659077	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236659077G>A	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	ENST00000304032.8:c.618G>A	2.37:g.236659077G>A						AGAP1_uc002vvt.2_Silent_p.T206T	p.T206T	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			6	1213	+			206			Small GTPase-like.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.618G>A	CCDS33408.1																																																																																				0.522	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		5	179	0	0	0	0.014758	0	5	179				
SEMG1	6406	broad.mit.edu	37	20	43836817	43836817	+	Silent	SNP	A	A	G	rs17850164		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr20:43836817A>G	ENST00000372781.3	+	2	936	c.879A>G	c.(877-879)acA>acG	p.T293T	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	293	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.T293T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTTCAAGTACAGAAGAAAGAC	0.383																																							uc002xni.2		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	skin(2)	2						c.(877-879)ACA>ACG		semenogelin I preproprotein							67.0	64.0	65.0					20																	43836817		2203	4300	6503	SO:0001819	synonymous_variant	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836817A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.879A>G	20.37:g.43836817A>G						SEMG1_uc002xnj.2_Intron|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.T293T	p.T293T	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	936	+		Myeloproliferative disorder(115;0.0122)	293			58 AA repeat 1.		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.879A>G	CCDS13345.1																																																																																				0.383	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		5	148	0	0	0	0.014758	0	5	148				
BRWD1	54014	broad.mit.edu	37	21	40569284	40569284	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr21:40569284G>C	ENST00000333229.2	-	41	6038	c.5711C>G	c.(5710-5712)tCc>tGc	p.S1904C	BRWD1_ENST00000342449.3_Missense_Mutation_p.S1904C|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1904C	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1904					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S1904C(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGAGTCACTGGAACAGACCCT	0.398																																					Melanoma(170;988 1986 4794 16843 39731)	Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(5710-5712)TCC>TGC		bromodomain and WD repeat domain containing 1							92.0	97.0	95.0					21																	40569284		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40569284G>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5711C>G	21.37:g.40569284G>C	ENSP00000330753:p.Ser1904Cys					BRWD1_uc010goc.1_Missense_Mutation_p.S547C|BRWD1_uc002yxl.2_Missense_Mutation_p.S1904C	p.S1904C	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			41	5850	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1904					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.5711C>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531776	0.64972	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.57273	0.41;0.43;0.51	5.02	5.02	0.67125	.	0.300464	0.29260	N	0.012664	T	0.62780	0.2456	M	0.66939	2.045	0.80722	D	1	D;D	0.71674	0.998;0.964	D;B	0.63113	0.911;0.436	T	0.66504	-0.5907	10	0.66056	D	0.02	-3.8534	5.0444	0.14475	0.1277:0.0:0.6694:0.203	.	1904;1904	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	C	1904	ENSP00000330753:S1904C;ENSP00000344333:S1904C;ENSP00000370178:S1904C	ENSP00000330753:S1904C	S	-	2	0	BRWD1	39491154	0.875000	0.30112	1.000000	0.80357	0.991000	0.79684	1.328000	0.33758	2.327000	0.79052	0.655000	0.94253	TCC		0.398	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		4	254	0	0	0	0.009096	0	4	254				
KRTAP10-5	386680	broad.mit.edu	37	21	46000423	46000423	+	Silent	SNP	G	G	A	rs139901000		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr21:46000423G>A	ENST00000400372.1	-	1	58	c.33C>T	c.(31-33)agC>agT	p.S11S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	11						keratin filament (GO:0045095)		p.S11S(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGAGCAAGCGCTGGAGCAGA	0.662													.|||	1	0.000199681	0.0	0.0	5008	,	,		18709	0.0		0.001	False		,,,				2504	0.0						uc002zfl.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)AGC>AGT		keratin associated protein 10-5							78.0	82.0	81.0					21																	46000423		2202	4300	6502	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:46000423G>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.33C>T	21.37:g.46000423G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S11S	NM_198694	NP_941967	P60370	KR105_HUMAN			1	59	-			11					Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.33C>T	CCDS42958.1																																																																																				0.662	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			12	115	0	0	0	0.016723	0	12	115				
DNAJB7	150353	broad.mit.edu	37	22	41257635	41257635	+	Missense_Mutation	SNP	G	G	A	rs373801186		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr22:41257635G>A	ENST00000307221.4	-	1	495	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	122							chaperone binding (GO:0051087)	p.R122C(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTCCTGGACGATTTAACAGG	0.363																																							uc003azj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)CGT>TGT		DnaJ (Hsp40) homolog, subfamily B, member 7							79.0	86.0	84.0					22																	41257635		2199	4300	6499	SO:0001583	missense	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257635G>A	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.364C>T	22.37:g.41257635G>A	ENSP00000307197:p.Arg122Cys					XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA|XPNPEP3_uc010gyh.1_5'Flank	p.R122C	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN			1	496	-			122					Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	c.364C>T	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	G	0.312	-0.966998	0.02232	.	.	ENSG00000172404	ENST00000307221	T	0.62498	0.02	4.7	-2.86	0.05717	.	.	.	.	.	T	0.35219	0.0924	N	0.12961	0.28	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.15809	-1.0424	9	0.51188	T	0.08	.	0.4322	0.00473	0.3696:0.2316:0.1309:0.2678	.	122	Q7Z6W7	DNJB7_HUMAN	C	122	ENSP00000307197:R122C	ENSP00000307197:R122C	R	-	1	0	DNAJB7	39587581	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.552000	0.06020	-0.671000	0.05274	-1.482000	0.00985	CGT		0.363	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		5	158	0	0	0	0.001168	0	5	158				
NAGA	4668	broad.mit.edu	37	22	42456372	42456372	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr22:42456372C>G	ENST00000396398.3	-	9	1679	c.1147G>C	c.(1147-1149)Gaa>Caa	p.E383Q	NAGA_ENST00000402937.1_Missense_Mutation_p.E383Q|NAGA_ENST00000403363.1_Missense_Mutation_p.E383Q	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	383					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)	p.E383Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AAGTTGGTTTCATCTCGGAGG	0.557																																							uc003bbx.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1147-1149)GAA>CAA		alpha-N-acetylgalactosaminidase precursor							190.0	168.0	175.0					22																	42456372		2203	4300	6503	SO:0001583	missense	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42456372C>G		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.1147G>C	22.37:g.42456372C>G	ENSP00000379680:p.Glu383Gln					NAGA_uc003bby.2_Missense_Mutation_p.E383Q|NAGA_uc003bbw.3_Missense_Mutation_p.E383Q	p.E383Q	NM_000262	NP_000253	P17050	NAGAB_HUMAN			10	1284	-			383						Missense_Mutation	SNP	ENST00000396398.3	37	c.1147G>C	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	C	2.104	-0.405432	0.04832	.	.	ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937	D;D;D	0.88354	-2.37;-2.37;-2.37	5.07	-0.914	0.10497	Glycosyl hydrolase, family 13, all-beta (1);	0.904752	0.09812	N	0.752662	T	0.80003	0.4544	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59931	-0.7361	10	0.10377	T	0.69	-0.0064	8.3429	0.32254	0.0:0.5992:0.0:0.4008	.	383	P17050	NAGAB_HUMAN	Q	383	ENSP00000379680:E383Q;ENSP00000385283:E383Q;ENSP00000384603:E383Q	ENSP00000379680:E383Q	E	-	1	0	NAGA	40786318	0.000000	0.05858	0.001000	0.08648	0.186000	0.23388	0.240000	0.18042	-0.362000	0.08113	0.591000	0.81541	GAA		0.557	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			4	156	0	0	0	0.009096	0	4	156				
SLC4A7	9497	broad.mit.edu	37	3	27472895	27472895	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:27472895G>A	ENST00000295736.5	-	7	1087	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A	SLC4A7_ENST00000445684.1_Silent_p.A335A|SLC4A7_ENST00000425128.2_Silent_p.A331A|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000446700.1_Silent_p.A331A|SLC4A7_ENST00000440156.1_Silent_p.A335A|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000454389.1_Silent_p.A348A|SLC4A7_ENST00000388777.4_5'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	339					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.A339A(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TATCATCACTGGCAGGTGAAA	0.502																																							uc003cdv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1015-1017)GCC>GCT		solute carrier family 4, sodium bicarbonate							118.0	125.0	123.0					3																	27472895		2203	4300	6503	SO:0001819	synonymous_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27472895G>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1017C>T	3.37:g.27472895G>A						SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_Intron|SLC4A7_uc003cdu.3_Intron|SLC4A7_uc011aww.1_Silent_p.A348A|SLC4A7_uc011awx.1_Silent_p.A335A|SLC4A7_uc011awy.1_Silent_p.A331A|SLC4A7_uc011awz.1_Intron|SLC4A7_uc011axa.1_Intron|SLC4A7_uc011axb.1_Silent_p.A335A|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdw.2_Intron	p.A339A	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			7	1088	-			339			Extracellular (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	c.1017C>T	CCDS33721.1																																																																																				0.502	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		28	157	0	0	0	0.009535	0	28	157				
MON1A	84315	broad.mit.edu	37	3	49947622	49947622	+	Missense_Mutation	SNP	C	C	T	rs200472590		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:49947622C>T	ENST00000417270.1	-	5	2026	c.1333G>A	c.(1333-1335)Gtt>Att	p.V445I	MON1A_ENST00000455683.2_Missense_Mutation_p.V372I|MON1A_ENST00000483022.1_5'Flank|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.V534I			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	437								p.V437I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACTTGGGCAACGCTGTAGTAG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18111	0.0		0.0	False		,,,				2504	0.0						uc003cxz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1600-1602)GTT>ATT		MON1 homolog A isoform a							58.0	59.0	59.0					3																	49947622		2203	4300	6503	SO:0001583	missense	84315						protein binding	g.chr3:49947622C>T	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1333G>A	3.37:g.49947622C>T	ENSP00000399613:p.Val445Ile					MON1A_uc003cya.2_Missense_Mutation_p.V372I|MON1A_uc003cyb.2_Missense_Mutation_p.V372I	p.V534I	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1726	-			437					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.1600G>A		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	27.2	4.811473	0.90707	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	6.08	6.08	0.98989	.	0.052940	0.85682	D	0.000000	T	0.64023	0.2561	L	0.31476	0.935	0.58432	D	0.999992	D;D;D	0.61697	0.982;0.99;0.99	P;P;P	0.58577	0.555;0.504;0.841	T	0.57785	-0.7751	8	.	.	.	-19.0649	20.6634	0.99662	0.0:1.0:0.0:0.0	.	275;372;437	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	I	534;445;372	.	.	V	-	1	0	MON1A	49922626	0.999000	0.42202	0.997000	0.53966	0.912000	0.54170	3.878000	0.56130	2.894000	0.99253	0.655000	0.94253	GTT		0.627	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		4	99	0	0	0	0.009096	0	4	99				
DNAH1	25981	broad.mit.edu	37	3	52429597	52429597	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:52429597T>C	ENST00000420323.2	+	70	11423	c.11162T>C	c.(11161-11163)aTa>aCa	p.I3721T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3786	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I3785T(1)|p.I3721T(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCAGCTCCATAGAGAGGGGC	0.637																																							uc011bef.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(3)	3						c.(11161-11163)ATA>ACA		dynein, axonemal, heavy chain 1							56.0	63.0	61.0					3																	52429597		2048	4222	6270	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52429597T>C	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11162T>C	3.37:g.52429597T>C	ENSP00000401514:p.Ile3721Thr					DNAH1_uc003ddv.2_Missense_Mutation_p.I579T	p.I3721T	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	70	11423	+			3786			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11162T>C	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294401	0.23564	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.07800	3.16	4.38	3.21	0.36854	.	0.274703	0.32488	N	0.006021	T	0.03095	0.0091	N	0.01809	-0.71	0.36855	D	0.88808	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.43376	-0.9395	10	0.25106	T	0.35	.	9.6566	0.39930	0.0:0.0826:0.0:0.9174	.	3721;3786	C9JXH6;Q9P2D7-2	.;.	T	3721;474	ENSP00000401514:I3721T	ENSP00000273600:I474T	I	+	2	0	DNAH1	52404637	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.070000	0.71220	0.719000	0.32188	0.533000	0.62120	ATA		0.637	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		12	49	0	0	0	0.008871	0	12	49				
ADAMTS9	56999	broad.mit.edu	37	3	64582594	64582594	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:64582594T>C	ENST00000498707.1	-	27	4433	c.4091A>G	c.(4090-4092)aAc>aGc	p.N1364S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.N1336S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1364	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1364S(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACACAGTCGTTTGCGGTGTA	0.502																																							uc003dmg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(4090-4092)AAC>AGC		ADAM metallopeptidase with thrombospondin type 1							119.0	100.0	107.0					3																	64582594		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64582594T>C	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4091A>G	3.37:g.64582594T>C	ENSP00000418735:p.Asn1364Ser					ADAMTS9_uc011bfo.1_Missense_Mutation_p.N1336S|ADAMTS9_uc003dmh.1_Missense_Mutation_p.N1193S|ADAMTS9_uc011bfp.1_Missense_Mutation_p.N275S	p.N1364S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	27	4123	-		Lung NSC(201;0.00682)	1364			TSP type-1 9.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.4091A>G	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.198|0.198	-1.046930|-1.046930	0.01997|0.01997	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.51071|.	0.72;0.72|.	5.16|5.16	-6.11|-6.11	0.02131|0.02131	.|.	0.452685|.	0.24150|.	N|.	0.041099|.	T|T	0.08358|0.08358	0.0208|0.0208	N|N	0.00514|0.00514	-1.41|-1.41	0.36715|0.36715	D|D	0.880866|0.880866	B;B;B|.	0.06786|.	0.0;0.001;0.0|.	B;B;B|.	0.08055|.	0.002;0.003;0.002|.	T|T	0.28364|0.28364	-1.0046|-1.0046	10|5	0.02654|.	T|.	1|.	.|.	2.9591|2.9591	0.05887|0.05887	0.1058:0.3183:0.3261:0.2498|0.1058:0.3183:0.3261:0.2498	.|.	1336;1364;1364|.	B7ZVX9;Q9P2N4-1;Q9P2N4|.	.;.;ATS9_HUMAN|.	S|A	1336;1364|420	ENSP00000295903:N1336S;ENSP00000418735:N1364S|.	ENSP00000295903:N1336S|.	N|T	-|-	2|1	0|0	ADAMTS9|ADAMTS9	64557634|64557634	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.720000|0.720000	0.41350|0.41350	-1.282000|-1.282000	0.02799|0.02799	-1.316000|-1.316000	0.02295|0.02295	-0.326000|-0.326000	0.08463|0.08463	AAC|ACG		0.502	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			9	79	0	0	0	0.008291	0	9	79				
SEMA5B	54437	broad.mit.edu	37	3	122642572	122642572	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:122642572G>A	ENST00000357599.3	-	10	1550	c.1164C>T	c.(1162-1164)tgC>tgT	p.C388C	SEMA5B_ENST00000451055.2_Silent_p.C442C|SEMA5B_ENST00000195173.4_Silent_p.C388C	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	388	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C388C(1)|p.C442C(1)		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)		GGTTGAAGGCGCAGACAGCAG	0.592																																							uc003efz.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(1162-1164)TGC>TGT		semaphorin 5B isoform 1							106.0	102.0	104.0					3																	122642572		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122642572G>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.1164C>T	3.37:g.122642572G>A						SEMA5B_uc011bju.1_Silent_p.C330C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.C388C|SEMA5B_uc010hro.1_Silent_p.C330C|SEMA5B_uc010hrp.1_RNA	p.C388C	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	10	1468	-			388			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.1164C>T	CCDS35491.1																																																																																				0.592	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		39	113	0	0	0	0.009718	0	39	113				
NEK11	79858	broad.mit.edu	37	3	130884337	130884337	+	Nonsense_Mutation	SNP	C	C	T	rs371195734		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr3:130884337C>T	ENST00000510769.1	+	8	1088	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	NEK11_ENST00000508196.1_Nonsense_Mutation_p.Q384*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.Q384*|NEK11_ENST00000507910.1_Nonsense_Mutation_p.Q384*|NEK11_ENST00000412440.2_Nonsense_Mutation_p.Q236*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.Q384*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.Q384*|NEK11_ENST00000383366.4_Nonsense_Mutation_p.Q384*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.Q384*					NIMA-related kinase 11									p.Q384*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCGGAACTTTCAGCAGCTGAG	0.313																																							uc003eny.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.(1150-1152)CAG>TAG		NIMA-related kinase 11 isoform 1							89.0	92.0	91.0					3																	130884337		2203	4300	6503	SO:0001587	stop_gained	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130884337C>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.835C>T	3.37:g.130884337C>T	ENSP00000421549:p.Gln279*					NEK11_uc003enx.2_Nonsense_Mutation_p.Q384*|NEK11_uc003eoa.2_Nonsense_Mutation_p.Q384*|NEK11_uc003enz.2_Nonsense_Mutation_p.Q202*|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Nonsense_Mutation_p.Q236*|NEK11_uc011bll.1_Nonsense_Mutation_p.Q279*|NEK11_uc011blm.1_Nonsense_Mutation_p.Q384*	p.Q384*	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			12	1476	+			384			Potential.			Nonsense_Mutation	SNP	ENST00000510769.1	37	c.1150C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.339808	0.98221	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	.	.	.	5.65	0.0294	0.14162	.	1.263120	0.05697	N	0.593276	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.1937	0.59726	0.1134:0.3928:0.4938:0.0	.	.	.	.	X	279;384;384;384;384;384;236;384;384	.	ENSP00000349389:Q384X	Q	+	1	0	NEK11	132367027	0.351000	0.24887	0.002000	0.10522	0.981000	0.71138	1.278000	0.33179	0.060000	0.16281	0.650000	0.86243	CAG		0.313	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		4	55	0	0	0	0.014758	0	4	55				
CENPE	1062	broad.mit.edu	37	4	104041347	104041347	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr4:104041347A>T	ENST00000265148.3	-	44	7376	c.7287T>A	c.(7285-7287)aaT>aaA	p.N2429K	CENPE_ENST00000380026.3_Missense_Mutation_p.N2308K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2429	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.N2392K(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAAGGCATTTATTTGATTCAT	0.294																																							uc003hxb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)	9						c.(7285-7287)AAT>AAA		centromere protein E							163.0	141.0	148.0					4																	104041347		2202	4299	6501	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104041347A>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7287T>A	4.37:g.104041347A>T	ENSP00000265148:p.Asn2429Lys					CENPE_uc003hxc.1_Missense_Mutation_p.N2308K	p.N2429K	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	44	7377	-			2429			Kinetochore-binding domain.|Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7287T>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	8.405	0.842814	0.16963	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.66460	-0.21;-0.21	4.62	2.16	0.27623	.	.	.	.	.	T	0.52322	0.1727	L	0.36672	1.1	0.09310	N	1	B;B	0.32160	0.358;0.244	B;B	0.30782	0.12;0.056	T	0.45527	-0.9255	9	0.52906	T	0.07	.	6.4024	0.21646	0.7858:0.0:0.2142:0.0	.	2308;2429	Q02224-3;Q02224	.;CENPE_HUMAN	K	2429;2308	ENSP00000265148:N2429K;ENSP00000369365:N2308K	ENSP00000265148:N2429K	N	-	3	2	CENPE	104260796	0.845000	0.29573	0.325000	0.25375	0.010000	0.07245	0.148000	0.16224	0.730000	0.32425	0.533000	0.62120	AAT		0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	32	0	0	0	0.00308	0	8	32				
CYP4V2	285440	broad.mit.edu	37	4	187131662	187131662	+	Missense_Mutation	SNP	C	C	T	rs146494374		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr4:187131662C>T	ENST00000378802.4	+	11	1749	c.1445C>T	c.(1444-1446)tCg>tTg	p.S482L	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	482					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.S482L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ACCATTCTTTCGTGCATCCTG	0.393																																							uc003iyw.3		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM053829	CYP4V2	M	rs146494374	c.(1444-1446)TCG>TTG		cytochrome P450, family 4, subfamily v,		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	124.0	121.0	122.0		1445	5.1	0.9	4	dbSNP_134	122	0,8600		0,0,4300	no	missense	CYP4V2	NM_207352.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	482/526	187131662	1,13005	2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187131662C>T	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1445C>T	4.37:g.187131662C>T	ENSP00000368079:p.Ser482Leu					CYP4V2_uc010ism.2_RNA	p.S482L	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	11	1749	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	482					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.1445C>T	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738507	0.69304	2.27E-4	0.0	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.79247	-1.25	5.12	5.12	0.69794	.	0.257731	0.38897	N	0.001534	T	0.78285	0.4259	L	0.53729	1.69	0.80722	D	1	P	0.44816	0.844	B	0.43809	0.432	T	0.81479	-0.0914	10	0.72032	D	0.01	.	18.7506	0.91812	0.0:1.0:0.0:0.0	.	482	Q6ZWL3	CP4V2_HUMAN	L	482;460	ENSP00000368079:S482L	ENSP00000274118:S460L	S	+	2	0	CYP4V2	187368656	1.000000	0.71417	0.936000	0.37596	0.016000	0.09150	7.089000	0.76909	2.669000	0.90835	0.591000	0.81541	TCG		0.393	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		20	115	0	0	0	0.014323	0	20	115				
PCDHA1	56147	broad.mit.edu	37	5	140167367	140167367	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:140167367C>T	ENST00000504120.2	+	1	1492	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R498W|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R498W	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R498W(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAACGGCGGGTGGGCGA	0.672																																							uc003lhb.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1492-1494)CGG>TGG		protocadherin alpha 1 isoform 1 precursor							61.0	66.0	64.0					5																	140167367		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167367C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1492C>T	5.37:g.140167367C>T	ENSP00000420840:p.Arg498Trp					PCDHA1_uc003lha.2_Missense_Mutation_p.R498W|PCDHA1_uc003lgz.2_Missense_Mutation_p.R498W	p.R498W	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1492	+			498			Cadherin 5.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1492C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.576954	0.28092	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.52526	0.66;0.66;0.66	3.63	1.71	0.24356	Cadherin (4);Cadherin-like (1);	0.211342	0.23204	U	0.050746	T	0.27524	0.0676	L	0.41236	1.265	0.09310	N	1	P;B;P	0.41748	0.639;0.26;0.761	B;B;B	0.29663	0.081;0.019;0.105	T	0.23547	-1.0185	10	0.62326	D	0.03	.	3.966	0.09431	0.3402:0.4751:0.0:0.1846	.	498;498;498	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	W	498	ENSP00000420840:R498W;ENSP00000378129:R498W;ENSP00000367373:R498W	ENSP00000367373:R498W	R	+	1	2	PCDHA1	140147551	0.007000	0.16637	0.993000	0.49108	0.653000	0.38743	-1.178000	0.03093	0.146000	0.19002	-0.233000	0.12211	CGG		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		14	132	0	0	0	0.008871	0	14	132				
PCDHA10	56139	broad.mit.edu	37	5	140236799	140236799	+	Missense_Mutation	SNP	C	C	T	rs193920994		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:140236799C>T	ENST00000307360.5	+	1	1166	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.T389M|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T389M(6)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCTCTGACGCCTCACGTT	0.552																																							uc003lhx.2		NA																	6	Substitution - Missense(6)		cervix(2)|large_intestine(2)|lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(1165-1167)ACG>ATG		protocadherin alpha 10 isoform 1 precursor							150.0	130.0	137.0					5																	140236799		2196	4275	6471	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236799C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1166C>T	5.37:g.140236799C>T	ENSP00000304234:p.Thr389Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.T389M|PCDHA10_uc011dad.1_Missense_Mutation_p.T389M	p.T389M	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1166	+			389			Cadherin 4.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1166C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	1.826	-0.470985	0.04445	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.53206	4.6;0.63	4.0	0.86	0.19042	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29783	0.0744	L	0.39020	1.185	0.09310	N	1	P;P;B	0.46512	0.879;0.83;0.029	B;B;B	0.37239	0.244;0.16;0.04	T	0.12630	-1.0540	9	0.38643	T	0.18	.	4.5978	0.12338	0.1216:0.562:0.2188:0.0975	.	389;389;389	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	M	389	ENSP00000421030:T389M;ENSP00000304234:T389M	ENSP00000304234:T389M	T	+	2	0	PCDHA10	140216983	0.000000	0.05858	0.000000	0.03702	0.577000	0.36160	-3.952000	0.00327	0.414000	0.25790	-0.291000	0.09656	ACG		0.552	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		11	230	0	0	0	0.010729	0	11	230				
JAKMIP2	9832	broad.mit.edu	37	5	146991890	146991890	+	Silent	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:146991890T>C	ENST00000265272.5	-	20	2858	c.2391A>G	c.(2389-2391)caA>caG	p.Q797Q	JAKMIP2_ENST00000333010.6_Silent_p.Q755Q|JAKMIP2_ENST00000507386.1_Silent_p.Q776Q	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	797						Golgi apparatus (GO:0005794)		p.Q797Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTTTTATTTGTCTTTTCT	0.308																																							uc003loq.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2389-2391)CAA>CAG		janus kinase and microtubule interacting protein							131.0	120.0	124.0					5																	146991890		2203	4299	6502	SO:0001819	synonymous_variant	9832					Golgi apparatus		g.chr5:146991890T>C	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2391A>G	5.37:g.146991890T>C						JAKMIP2_uc011dbx.1_Silent_p.Q755Q|JAKMIP2_uc003lor.1_Silent_p.Q776Q|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Silent_p.Q797Q	p.Q797Q	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		20	2773	-			797			Potential.		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	c.2391A>G	CCDS4285.1																																																																																				0.308	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		3	18	0	0	0	0.004672	0	3	18				
FAM71B	153745	broad.mit.edu	37	5	156592963	156592963	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr5:156592963C>A	ENST00000302938.4	-	1	312	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	73						nucleus (GO:0005634)		p.G73C(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGACGATGCCCACTGTCACC	0.483																																							uc003lwn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(217-219)GGC>TGC		family with sequence similarity 71, member B							134.0	124.0	128.0					5																	156592963		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592963C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.217G>T	5.37:g.156592963C>A	ENSP00000305596:p.Gly73Cys						p.G73C	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	317	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	73					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.217G>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607240	0.28623	.	.	ENSG00000170613	ENST00000302938	T	0.11495	2.77	4.67	2.69	0.31865	.	0.263265	0.29956	N	0.010774	T	0.17109	0.0411	M	0.89785	3.06	0.31334	N	0.68442	P	0.46457	0.878	B	0.38020	0.263	T	0.30060	-0.9991	10	0.39692	T	0.17	-6.4782	10.6112	0.45423	0.3113:0.6887:0.0:0.0	.	73	Q8TC56	FA71B_HUMAN	C	73	ENSP00000305596:G73C	ENSP00000305596:G73C	G	-	1	0	FAM71B	156525541	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.785000	0.38684	0.500000	0.27991	0.563000	0.77884	GGC		0.483	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		12	125	1	0	0.00136819	0.013537	0.00150168	12	125				
CAPN11	11131	broad.mit.edu	37	6	44144683	44144683	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:44144683C>T	ENST00000398776.1	+	11	1223	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y	CAPN11_ENST00000542245.1_Silent_p.Y395Y	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	395	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.Y395Y(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCACCTTCTACGAGGGCAGCT	0.607																																							uc003owt.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1183-1185)TAC>TAT		calpain 11							124.0	125.0	124.0					6																	44144683		2073	4223	6296	SO:0001819	synonymous_variant	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44144683C>T	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1185C>T	6.37:g.44144683C>T						CAPN11_uc011dvn.1_Silent_p.Y49Y	p.Y395Y	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	1223	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		395			Domain III.		B2RA64|Q5T3G1|Q8N4R5	Silent	SNP	ENST00000398776.1	37	c.1185C>T	CCDS47436.1																																																																																				0.607	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			23	185	0	0	0	0.01892	0	23	185				
THEMIS	387357	broad.mit.edu	37	6	128134845	128134845	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:128134845T>C	ENST00000368248.2	-	4	1089	c.941A>G	c.(940-942)cAg>cGg	p.Q314R	THEMIS_ENST00000537166.1_Missense_Mutation_p.Q279R|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q314R|THEMIS_ENST00000368250.1_Missense_Mutation_p.Q235R	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	314	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q314R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTTGATGCCTGGTACTTTTT	0.443																																							uc003qbi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(940-942)CAG>CGG		thymocyte selection pathway associated isoform							101.0	105.0	104.0					6																	128134845		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134845T>C	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.941A>G	6.37:g.128134845T>C	ENSP00000357231:p.Gln314Arg					THEMIS_uc010kfa.2_Missense_Mutation_p.Q217R|THEMIS_uc011ebt.1_Missense_Mutation_p.Q314R|THEMIS_uc010kfb.2_Missense_Mutation_p.Q279R	p.Q314R	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1260	-			314			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.941A>G	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141345	0.57044	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.59	5.59	0.84812	.	0.061246	0.64402	D	0.000003	T	0.26448	0.0646	M	0.72118	2.19	0.40848	D	0.983721	D;D	0.76494	0.986;0.999	P;D	0.68353	0.888;0.957	T	0.01652	-1.1303	10	0.45353	T	0.12	-14.9573	15.7742	0.78198	0.0:0.0:0.0:1.0	.	314;314	F5H1J9;Q8N1K5	.;THMS1_HUMAN	R	235;314;314;279;82	ENSP00000357233:Q235R;ENSP00000439594:Q314R;ENSP00000357231:Q314R;ENSP00000439863:Q279R;ENSP00000387740:Q82R	ENSP00000357231:Q314R	Q	-	2	0	THEMIS	128176538	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	6.396000	0.73234	2.135000	0.66039	0.374000	0.22700	CAG		0.443	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		4	170	0	0	0	0.009096	0	4	170				
ENPP1	5167	broad.mit.edu	37	6	132203597	132203597	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:132203597G>A	ENST00000360971.2	+	21	2233	c.2213G>A	c.(2212-2214)gGg>gAg	p.G738E		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	738	Nuclease.				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)	p.G686E(1)		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)	GTGAGTTACGGGTTCCTCTCC	0.383																																					Colon(104;336 1535 5856 11019 33782)	Colon(104;336 1535 5856 11019 33782)	uc011ecf.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)	4						c.(2212-2214)GGG>GAG		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						113.0	117.0	116.0					6																	132203597		2203	4300	6503	SO:0001583	missense	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.chr6:132203597G>A	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.2213G>A	6.37:g.132203597G>A	ENSP00000354238:p.Gly738Glu						p.G738E	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	21	2233	+	Breast(56;0.0505)		738			Nuclease.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2213G>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396776	0.83120	.	.	ENSG00000197594	ENST00000360971	D	0.97138	-4.26	6.16	6.16	0.99307	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	M	0.88450	2.955	0.80722	D	1	P	0.46912	0.886	P	0.55087	0.768	D	0.98730	1.0712	10	0.87932	D	0	-14.6624	18.6329	0.91366	0.0:0.0:1.0:0.0	.	738	P22413	ENPP1_HUMAN	E	738	ENSP00000354238:G738E	ENSP00000354238:G738E	G	+	2	0	ENPP1	132245290	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.468000	0.53086	2.937000	0.99478	0.650000	0.86243	GGG		0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			44	158	0	0	0	0.01441	0	44	158				
AKAP12	9590	broad.mit.edu	37	6	151672021	151672021	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:151672021G>C	ENST00000253332.1	+	3	2684	c.2495G>C	c.(2494-2496)gGg>gCg	p.G832A	AKAP12_ENST00000402676.2_Missense_Mutation_p.G832A|AKAP12_ENST00000354675.6_Missense_Mutation_p.G734A|AKAP12_ENST00000359755.5_Missense_Mutation_p.G727A			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	832					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.G832A(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAAGACGCAGGGCCAACAGGG	0.512																																					Melanoma(141;1616 1805 10049 24534 51979)	Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2494-2496)GGG>GCG		A kinase (PRKA) anchor protein 12 isoform 1							87.0	99.0	95.0					6																	151672021		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672021G>C	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2495G>C	6.37:g.151672021G>C	ENSP00000253332:p.Gly832Ala					AKAP12_uc003qoe.2_Missense_Mutation_p.G832A|AKAP12_uc003qof.2_Missense_Mutation_p.G734A|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.G727A	p.G832A	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2735	+		Ovarian(120;0.125)	832					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2495G>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538049	0.45176	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07021	3.23;3.23;3.24;3.24	5.63	4.65	0.58169	.	0.000000	0.44688	D	0.000433	T	0.09818	0.0241	M	0.70595	2.14	0.44711	D	0.997708	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69479	0.964;0.964;0.921	T	0.31194	-0.9952	10	0.06891	T	0.86	.	6.7415	0.23439	0.1987:0.0:0.8013:0.0	.	727;734;832	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	A	832;832;734;727	ENSP00000384537:G832A;ENSP00000253332:G832A;ENSP00000346702:G734A;ENSP00000352794:G727A	ENSP00000253332:G832A	G	+	2	0	AKAP12	151713714	0.998000	0.40836	0.335000	0.25508	0.006000	0.05464	2.750000	0.47500	2.652000	0.90054	0.655000	0.94253	GGG		0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			57	220	0	0	0	0.01441	0	57	220				
PARK2	5071	broad.mit.edu	37	6	161781119	161781119	+	Splice_Site	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr6:161781119C>A	ENST00000366898.1	-	11	1388		c.e11+1		PARK2_ENST00000338468.3_Splice_Site|PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000366896.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CACAGACTCACCATTTTTTTC	0.522																																							uc003qtx.3		NA																	1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.e11+1		parkin isoform 1							238.0	227.0	231.0					6																	161781119		2203	4300	6503	SO:0001630	splice_region_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161781119C>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1285+1G>T	6.37:g.161781119C>A						PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Splice_Site_p.G238_splice|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Splice_Site_p.G401_splice|PARK2_uc003qtz.3_Splice_Site_p.G280_splice|PARK2_uc011egf.1_Splice_Site_p.G103_splice	p.G429_splice	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	11	1419	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)						A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Splice_Site	SNP	ENST00000366898.1	37	c.1285_splice	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105076	0.56291	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2374	0.73441	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARK2	161701109	1.000000	0.71417	0.998000	0.56505	0.518000	0.34316	5.469000	0.66749	2.301000	0.77427	0.637000	0.83480	.		0.522	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		Intron	35	305	1	0	4.14481e-20	0.00623	4.99597e-20	35	305				
CARD11	84433	broad.mit.edu	37	7	2983995	2983995	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:2983995G>A	ENST00000396946.4	-	5	938	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	179					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R172W(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTAGTACCGCTCCTGGAAG	0.577			Mis		DLBCL																																		uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		2	Substitution - Missense(2)	p.R172W(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(535-537)CGG>TGG		caspase recruitment domain family, member 11							226.0	146.0	173.0					7																	2983995		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2983995G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.535C>T	7.37:g.2983995G>A	ENSP00000380150:p.Arg179Trp						p.R179W	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	939	-		Ovarian(82;0.0115)	179			Potential.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.535C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660763	0.67700	.	.	ENSG00000198286	ENST00000396946	T	0.37752	1.18	4.25	3.19	0.36642	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.64997	1.995	0.54753	D	0.999982	D	0.89917	1.0	D	0.74023	0.982	T	0.54997	-0.8209	10	0.87932	D	0	-26.5674	9.5505	0.39306	0.0:0.0:0.5094:0.4906	.	179	Q9BXL7	CAR11_HUMAN	W	179	ENSP00000380150:R179W	ENSP00000380150:R179W	R	-	1	2	CARD11	2950521	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	2.082000	0.41605	2.083000	0.62718	0.561000	0.74099	CGG		0.577	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		11	180	0	0	0	0.008291	0	11	180				
HOXA9	3205	broad.mit.edu	37	7	27203329	27203329	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:27203329C>T	ENST00000343483.6	-	2	784	c.712G>A	c.(712-714)Gag>Aag	p.E238K	HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.E78K	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	238					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)	p.E238K(1)|p.E238*(1)		central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CGAGCCACCTCGTACCTGCGG	0.507			T	"""NUP98, MSI2"""	AML*																																		uc003syt.2		NA		Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	NUP98|MSI2		AML*		2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	lung(1)|central_nervous_system(1)	2						c.(712-714)GAG>AAG		homeobox A9							152.0	144.0	146.0					7																	27203329		2203	4300	6503	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27203329C>T		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.712G>A	7.37:g.27203329C>T	ENSP00000343619:p.Glu238Lys						p.E238K	NM_152739	NP_689952	P31269	HXA9_HUMAN			2	785	-			238			Homeobox.		O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.712G>A	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266804	0.95399	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.96522	-4.04;-4.04	5.21	5.21	0.72293	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000009	D	0.97489	0.9178	L	0.54863	1.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98245	1.0490	10	0.87932	D	0	.	18.1323	0.89605	0.0:1.0:0.0:0.0	.	238	P31269	HXA9_HUMAN	K	238;162;229;78	ENSP00000343619:E238K;ENSP00000421799:E78K	ENSP00000242050:E229K	E	-	1	0	RP1-170O19.20;HOXA9	27169854	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.623000	0.88846	0.561000	0.74099	GAG		0.507	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			23	177	0	0	0	0.007291	0	23	177				
KBTBD2	25948	broad.mit.edu	37	7	32909720	32909720	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:32909720C>T	ENST00000304056.4	-	4	1808	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	370								p.R370H(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGGCTTTATGCGGACAAAAAG	0.428																																							uc003tdb.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(1108-1110)CGC>CAC		kelch repeat and BTB (POZ) domain containing 2							147.0	135.0	139.0					7																	32909720		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909720C>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1109G>A	7.37:g.32909720C>T	ENSP00000302586:p.Arg370His					AVL9_uc011kai.1_Intron	p.R370H	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	1768	-			370			Kelch 1.		A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1109G>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661576	0.47572	.	.	ENSG00000170852	ENST00000304056	T	0.79554	-1.28	5.65	5.65	0.86999	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.91209	0.7230	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91717	0.5386	10	0.87932	D	0	.	20.0752	0.97739	0.0:1.0:0.0:0.0	.	370	Q8IY47	KBTB2_HUMAN	H	370	ENSP00000302586:R370H	ENSP00000302586:R370H	R	-	2	0	KBTBD2	32876245	1.000000	0.71417	0.964000	0.40570	0.951000	0.60555	7.445000	0.80570	2.826000	0.97356	0.491000	0.48974	CGC		0.428	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		4	192	0	0	0	0.009096	0	4	192				
PTPN12	5782	broad.mit.edu	37	7	77256457	77256457	+	Silent	SNP	C	C	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:77256457C>G	ENST00000248594.6	+	13	1733	c.1461C>G	c.(1459-1461)gtC>gtG	p.V487V	PTPN12_ENST00000415482.2_Silent_p.V368V|PTPN12_ENST00000435495.2_Silent_p.V357V	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	487					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.V487V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATCTAAATGTCGGTGATACTT	0.383																																							uc003ugh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(1459-1461)GTC>GTG		protein tyrosine phosphatase, non-receptor type							69.0	68.0	69.0					7																	77256457		2203	4300	6503	SO:0001819	synonymous_variant	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256457C>G		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1461C>G	7.37:g.77256457C>G						PTPN12_uc011kgp.1_Silent_p.V368V|PTPN12_uc011kgq.1_Silent_p.V357V|PTPN12_uc010lds.2_Silent_p.V219V	p.V487V	NM_002835	NP_002826	Q05209	PTN12_HUMAN			13	1552	+			487					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	ENST00000248594.6	37	c.1461C>G	CCDS5592.1																																																																																				0.383	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			5	142	0	0	0	0.014758	0	5	142				
CALD1	800	broad.mit.edu	37	7	134635162	134635162	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:134635162G>A	ENST00000361675.2	+	9	2061	c.1832G>A	c.(1831-1833)cGa>cAa	p.R611Q	CALD1_ENST00000393118.2_Missense_Mutation_p.R376Q|CALD1_ENST00000417172.1_Missense_Mutation_p.R356Q|CALD1_ENST00000543443.1_Missense_Mutation_p.R361Q|CALD1_ENST00000495522.1_Missense_Mutation_p.R376Q|CALD1_ENST00000361901.2_Missense_Mutation_p.R356Q|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361388.2_Missense_Mutation_p.R382Q|CALD1_ENST00000422748.1_Missense_Mutation_p.R382Q|CALD1_ENST00000424922.1_Missense_Mutation_p.R350Q			Q05682	CALD1_HUMAN	caldesmon 1	611	Tropomyosin-binding. {ECO:0000255}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.R611Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATTGAAAGGCGAAGAGCAGAA	0.458																																							uc003vrz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1831-1833)CGA>CAA		caldesmon 1 isoform 1							88.0	87.0	88.0					7																	134635162		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134635162G>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1832G>A	7.37:g.134635162G>A	ENSP00000354826:p.Arg611Gln					CALD1_uc003vry.2_Missense_Mutation_p.R356Q|CALD1_uc003vsa.2_Missense_Mutation_p.R382Q|CALD1_uc003vsb.2_Missense_Mutation_p.R356Q|CALD1_uc010lmm.2_Missense_Mutation_p.R382Q|CALD1_uc011kpt.1_Missense_Mutation_p.R130Q|CALD1_uc003vsc.2_Missense_Mutation_p.R376Q|CALD1_uc003vsd.2_Missense_Mutation_p.R350Q|CALD1_uc011kpu.1_Missense_Mutation_p.R361Q|CALD1_uc011kpv.1_Missense_Mutation_p.R220Q|CALD1_uc003vse.2_Missense_Mutation_p.R475Q	p.R611Q	NM_033138	NP_149129	Q05682	CALD1_HUMAN			9	2291	+			611			Tropomyosin-binding (Potential).		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.1832G>A	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576992	0.86645	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.52	5.52	0.82312	.	0.000000	0.38548	N	0.001657	T	0.72684	0.3491	M	0.83953	2.67	0.53005	D	0.999963	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.997;0.998;0.999;0.996;0.996;0.996;0.996;0.998;0.998	T	0.73547	-0.3948	10	0.45353	T	0.12	-9.6252	19.4505	0.94865	0.0:0.0:1.0:0.0	.	305;361;382;376;350;376;356;382;611;356	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	Q	356;356;382;382;611;356;376;350;376;361	ENSP00000398826:R356Q;ENSP00000411476:R356Q;ENSP00000355000:R382Q;ENSP00000395710:R382Q;ENSP00000354826:R611Q;ENSP00000354513:R356Q;ENSP00000376826:R376Q;ENSP00000393621:R350Q;ENSP00000419673:R376Q;ENSP00000445641:R361Q	ENSP00000355000:R382Q	R	+	2	0	CALD1	134285702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.860000	0.92272	2.597000	0.87782	0.655000	0.94253	CGA		0.458	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		4	85	0	0	0	0.009096	0	4	85				
CNTNAP2	26047	broad.mit.edu	37	7	146741075	146741075	+	Missense_Mutation	SNP	G	G	A	rs138738227	byFrequency	TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:146741075G>A	ENST00000361727.3	+	4	995	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	160	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R160H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCTATGTGCGCATAGTGCCT	0.433										HNSCC(39;0.1)			G|||	2	0.000399361	0.0008	0.0014	5008	,	,		15197	0.0		0.0	False		,,,				2504	0.0						uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(478-480)CGC>CAC		cell recognition molecule Caspr2 precursor		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	196.0	171.0	179.0		479	5.5	1.0	7	dbSNP_134	179	3,8597	2.2+/-6.3	0,3,4297	yes	missense	CNTNAP2	NM_014141.5	29	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	probably-damaging	160/1332	146741075	5,13001	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146741075G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.479G>A	7.37:g.146741075G>A	ENSP00000354778:p.Arg160His	HNSCC(39;0.1)					p.R160H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		4	995	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	160			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.479G>A	CCDS5889.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	23.7	4.441832	0.83993	4.54E-4	3.49E-4	ENSG00000174469	ENST00000361727	D	0.99105	-5.43	5.47	5.47	0.80525	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000060	D	0.99551	0.9839	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94940	0.8090	10	0.87932	D	0	.	17.8968	0.88891	0.0:0.0:1.0:0.0	.	160	Q9UHC6	CNTP2_HUMAN	H	160	ENSP00000354778:R160H	ENSP00000354778:R160H	R	+	2	0	CNTNAP2	146372008	1.000000	0.71417	0.971000	0.41717	0.313000	0.28021	9.695000	0.98691	2.568000	0.86640	0.462000	0.41574	CGC		0.433	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			4	186	0	0	0	0.001168	0	4	186				
ZFAND1	79752	broad.mit.edu	37	8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr8:82626245G>A	ENST00000220669.5	-	6	406	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding (GO:0008270)	p.R130*(3)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343																																							uc003ycj.1		NA																	3	Substitution - Nonsense(3)	p.R130*(1)	lung(1)|ovary(1)|prostate(1)	ovary(1)	1						c.(388-390)CGA>TGA		zinc finger, AN1-type domain 1							187.0	158.0	168.0					8																	82626245		2203	4299	6502	SO:0001587	stop_gained	79752						zinc ion binding	g.chr8:82626245G>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.388C>T	8.37:g.82626245G>A	ENSP00000220669:p.Arg130*					ZFAND1_uc010lzx.1_Nonsense_Mutation_p.R130*|ZFAND1_uc003yck.1_Nonsense_Mutation_p.R23*	p.R130*	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN			6	402	-			130					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Nonsense_Mutation	SNP	ENST00000220669.5	37	c.388C>T	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970302	0.92919	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742;ENST00000518419;ENST00000520076	.	.	.	5.78	2.72	0.32119	.	0.330492	0.31495	N	0.007556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.0672	0.47982	0.0:0.4208:0.4368:0.1425	.	.	.	.	X	130;130;23;23;23;23;23;130;23;23;23;23;23;23	.	ENSP00000220669:R130X	R	-	1	2	ZFAND1	82788800	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	2.483000	0.45233	0.725000	0.32318	0.650000	0.86243	CGA		0.343	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		4	85	0	0	0	0.009096	0	4	85				
VLDLR	7436	broad.mit.edu	37	9	2635511	2635511	+	Silent	SNP	G	G	A	rs372980901		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:2635511G>A	ENST00000382100.3	+	2	497	c.141G>A	c.(139-141)acG>acA	p.T47T	VLDLR_ENST00000382099.2_Silent_p.T47T|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	47	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.T47T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GCTGTATTACGCTGTTGTGGA	0.408																																							uc003zhk.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(139-141)ACG>ACA		very low density lipoprotein receptor isoform a							349.0	329.0	336.0					9																	2635511		2203	4300	6503	SO:0001819	synonymous_variant	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2635511G>A		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.141G>A	9.37:g.2635511G>A						VLDLR_uc003zhl.1_Silent_p.T47T|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.T47T	p.T47T	NM_003383	NP_003374	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	2	538	+			47			Extracellular (Potential).|LDL-receptor class A 1.		B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	c.141G>A	CCDS6446.1																																																																																				0.408	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		11	265	0	0	0	0.016723	0	11	265				
NUDT2	318	broad.mit.edu	37	9	34343338	34343338	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:34343338G>A	ENST00000379158.2	+	5	702	c.344G>A	c.(343-345)cGc>cAc	p.R115H	NUDT2_ENST00000346365.4_Missense_Mutation_p.R115H|NUDT2_ENST00000379155.5_Missense_Mutation_p.R115H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	115	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				apoptotic process (GO:0006915)|nucleobase-containing compound metabolic process (GO:0006139)	mitochondrion (GO:0005739)	bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity (GO:0004081)|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity (GO:0008803)|GTP binding (GO:0005525)	p.R115H(1)		lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CAAGCCTACCGCTGGCTGGGG	0.562																																					Melanoma(95;1683 1957 4276 39813)	Melanoma(95;1683 1957 4276 39813)	uc003zub.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(343-345)CGC>CAC		nudix-type motif 2							44.0	46.0	45.0					9																	34343338		2203	4300	6503	SO:0001583	missense	318				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding	g.chr9:34343338G>A	U30313	CCDS6552.1	9p13	2008-07-21			ENSG00000164978	ENSG00000164978		"""Nudix motif containing"""	8049	protein-coding gene	gene with protein product	"""Ap4A hydrolase 1"", ""Ap4Aase"", ""bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)"", ""diadenosine tetraphosphatase"", ""diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase"""	602852		APAH1		7487923, 9479504	Standard	NM_001161		Approved		uc022bga.1	P50583	OTTHUMG00000019817	ENST00000379158.2:c.344G>A	9.37:g.34343338G>A	ENSP00000368455:p.Arg115His					NUDT2_uc003zuc.2_Missense_Mutation_p.R115H|NUDT2_uc003zud.2_Missense_Mutation_p.R115H	p.R115H	NM_001161	NP_001152	P50583	AP4A_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	5	702	+			115			Nudix hydrolase.		D3DRM0|Q5T589	Missense_Mutation	SNP	ENST00000379158.2	37	c.344G>A	CCDS6552.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077571	0.94000	.	.	ENSG00000164978	ENST00000337747;ENST00000379154;ENST00000379155;ENST00000346365;ENST00000379158	T;T;T	0.09723	2.95;2.95;2.95	5.88	5.88	0.94601	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.088021	0.85682	D	0.000000	T	0.33731	0.0873	M	0.84773	2.715	0.58432	D	0.999999	D	0.61080	0.989	P	0.59595	0.86	T	0.03728	-1.1009	10	0.52906	T	0.07	-8.3639	15.3324	0.74223	0.0683:0.0:0.9317:0.0	.	115	P50583	AP4A_HUMAN	H	115	ENSP00000368452:R115H;ENSP00000344187:R115H;ENSP00000368455:R115H	ENSP00000338397:R115H	R	+	2	0	NUDT2	34333338	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.415000	0.73328	2.797000	0.96272	0.561000	0.74099	CGC		0.562	NUDT2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052160.2	NM_001161		4	39	0	0	0	0.020292	0	4	39				
IKBKAP	8518	broad.mit.edu	37	9	111668633	111668633	+	Silent	SNP	C	C	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:111668633C>T	ENST00000374647.5	-	14	1900	c.1593G>A	c.(1591-1593)ttG>ttA	p.L531L	IKBKAP_ENST00000537196.1_Silent_p.L182L	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	531					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.L531L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCTGCAGTCAAATGGTGAA	0.473																																							uc004bdm.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(1591-1593)TTG>TTA		inhibitor of kappa light polypeptide gene							142.0	122.0	129.0					9																	111668633		2203	4300	6503	SO:0001819	synonymous_variant	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111668633C>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1593G>A	9.37:g.111668633C>T						IKBKAP_uc004bdl.2_Silent_p.L182L|IKBKAP_uc011lwc.1_Silent_p.L417L|IKBKAP_uc010mtq.2_Silent_p.L182L	p.L531L	NM_003640	NP_003631	O95163	ELP1_HUMAN			14	2113	-			531					Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	c.1593G>A	CCDS6773.1																																																																																				0.473	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			21	84	0	0	0	0.012319	0	21	84				
OR1J2	26740	broad.mit.edu	37	9	125273234	125273234	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:125273234G>A	ENST00000335302.5	+	1	154	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D52N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CATCCAGCTGGACTCTCACCT	0.547																																							uc004bmj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(1)|breast(1)	5						c.(154-156)GAC>AAC		olfactory receptor, family 1, subfamily J,							278.0	215.0	236.0					9																	125273234		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273234G>A		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.154G>A	9.37:g.125273234G>A	ENSP00000335575:p.Asp52Asn					OR1J2_uc011lyv.1_Missense_Mutation_p.D52N	p.D52N	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN			4	1009	+			52			Cytoplasmic (Potential).		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.154G>A	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291171	0.59976	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.02837	4.14	5.02	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37012	U	0.002294	T	0.07098	0.0180	L	0.61218	1.895	0.09310	N	0.999999	P	0.51653	0.947	P	0.51324	0.666	T	0.10590	-1.0623	10	0.62326	D	0.03	.	9.0343	0.36277	0.1705:0.0:0.8295:0.0	.	52	Q8NGS2	OR1J2_HUMAN	N	52	ENSP00000335575:D52N	ENSP00000335575:D52N	D	+	1	0	OR1J2	124313055	0.002000	0.14202	1.000000	0.80357	0.726000	0.41606	0.814000	0.27239	1.370000	0.46153	0.650000	0.86243	GAC		0.547	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			34	178	0	0	0	0.019004	0	34	178				
SCAI	286205	broad.mit.edu	37	9	127765392	127765392	+	Splice_Site	SNP	C	C	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr9:127765392C>A	ENST00000336505.6	-	11	1124		c.e11+1		SCAI_ENST00000487795.1_Splice_Site|SCAI_ENST00000373549.4_Splice_Site	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ATCACACATACCTTAAAAGAC	0.383																																							uc004bpe.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.e11+1		suppressor of cancer cell invasion isoform 2							193.0	177.0	182.0					9																	127765392		1836	4088	5924	SO:0001630	splice_region_variant	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127765392C>A	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1065+1G>T	9.37:g.127765392C>A						SCAI_uc004bpd.2_Splice_Site_p.K378_splice|SCAI_uc010mwu.2_Splice_Site	p.K355_splice	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN			11	1146	-								Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Splice_Site	SNP	ENST00000336505.6	37	c.1065_splice	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339334	0.60963	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4269	0.94746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCAI	126805213	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.487000	0.81328	2.836000	0.97738	0.655000	0.94253	.		0.383	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690	Intron	56	239	1	0	3.89483e-19	0.01441	4.65311e-19	56	239				
MAP7D2	256714	broad.mit.edu	37	X	20031731	20031731	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:20031731T>G	ENST00000379651.3	-	12	1657	c.1639A>C	c.(1639-1641)Atc>Ctc	p.I547L	MAP7D2_ENST00000452324.3_Missense_Mutation_p.I495L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.I588L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.I432L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.I502L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	547					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.I547L(1)|p.I588L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CTCTTCATGATTTCATCTATT	0.308																																							uc004czr.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1639-1641)ATC>CTC		MAP7 domain containing 2							157.0	130.0	139.0					X																	20031731		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20031731T>G	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1639A>C	X.37:g.20031731T>G	ENSP00000368972:p.Ile547Leu					MAP7D2_uc004czq.1_Missense_Mutation_p.I432L|MAP7D2_uc011mji.1_Missense_Mutation_p.I495L|MAP7D2_uc010nfo.1_Missense_Mutation_p.I588L|MAP7D2_uc011mjj.1_Missense_Mutation_p.I502L	p.I547L	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			12	1658	-			547					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1639A>C	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283694	0.80803	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.53423	0.62;1.48;1.48;1.48;1.48	5.68	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.72036	0.3411	M	0.90425	3.115	0.54753	D	0.999984	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.998;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.994;0.997	T	0.74853	-0.3523	10	0.56958	D	0.05	-7.2237	11.1333	0.48360	0.0:0.0:0.1525:0.8475	.	502;495;588;547;432	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	L	547;588;432;502;230;495	ENSP00000368972:I547L;ENSP00000368964:I588L;ENSP00000440691:I432L;ENSP00000388239:I502L;ENSP00000413301:I495L	ENSP00000368964:I588L	I	-	1	0	MAP7D2	19941652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.089000	0.64492	0.742000	0.32697	0.483000	0.47432	ATC		0.308	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		8	109	0	0	0	0.00308	0	8	109				
MAGED1	9500	broad.mit.edu	37	X	51645010	51645010	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:51645010T>A	ENST00000375722.1	+	12	2573	c.2321T>A	c.(2320-2322)tTc>tAc	p.F774Y	MAGED1_ENST00000326587.7_Missense_Mutation_p.F774Y|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.F830Y|MAGED1_ENST00000375772.3_Missense_Mutation_p.F774Y			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	774					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.F830Y(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GCCATTGGTTTCTTCTGGGTT	0.512										Multiple Myeloma(10;0.10)																													uc004dpm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2320-2322)TTC>TAC		melanoma antigen family D, 1 isoform b							82.0	70.0	74.0					X																	51645010		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51645010T>A	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2321T>A	X.37:g.51645010T>A	ENSP00000364874:p.Phe774Tyr	Multiple Myeloma(10;0.10)				MAGED1_uc004dpn.2_Missense_Mutation_p.F830Y|MAGED1_uc004dpo.2_Missense_Mutation_p.F774Y	p.F774Y	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN			12	2416	+	Ovarian(276;0.236)		774					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.2321T>A	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.833375	0.32421	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.04970	3.61;3.61;3.61;3.52	3.94	2.77	0.32553	.	0.000000	0.47093	D	0.000244	T	0.06005	0.0156	N	0.08118	0	0.28749	N	0.90151	D;D	0.61697	0.99;0.963	P;B	0.56127	0.792;0.441	T	0.13818	-1.0495	10	0.72032	D	0.01	.	5.2486	0.15510	0.0:0.1322:0.0:0.8678	.	830;774	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	Y	774;774;774;830	ENSP00000364927:F774Y;ENSP00000364874:F774Y;ENSP00000325333:F774Y;ENSP00000364847:F830Y	ENSP00000325333:F774Y	F	+	2	0	MAGED1	51661750	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.904000	0.48719	0.675000	0.31264	-0.424000	0.05967	TTC		0.512	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		11	30	0	0	0	0.008291	0	11	30				
SSX8	280659	broad.mit.edu	37	X	52654550	52654550	+	IGR	SNP	A	A	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:52654550A>T								XAGE1E (108353 upstream) : SSX7 (18589 downstream)																							TTTTTTTTTTAGGCCTTCAAT	0.413																																							uc011moa.1		NA																	0					0						c.e3-2		Homo sapiens cDNA FLJ56587 complete cds, highly similar to Protein SSX8.							77.0	51.0	59.0					X																	52654550		692	1590	2282	SO:0001628	intergenic_variant	280659							g.chrX:52654550A>T																													X.37:g.52654550A>T						SSX8_uc011mob.1_Splice_Site								3		+									Splice_Site	SNP		37	c.354_splice																																																																																				0	0.413									4	56	0	0	0	0.014758	0	4	56				
ATRX	546	broad.mit.edu	37	X	76939965	76939965	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:76939965G>A	ENST00000373344.5	-	9	997	c.783C>T	c.(781-783)aaC>aaT	p.N261N	ATRX_ENST00000395603.3_Silent_p.N223N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	261	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.N261N(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATACCATTGGTTGTTTTCAT	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - coding silent(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(781-783)AAC>AAT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						156.0	145.0	149.0					X																	76939965		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939965G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.783C>T	X.37:g.76939965G>A						ATRX_uc004ecq.3_Silent_p.N223N|ATRX_uc004eco.3_Silent_p.N46N|ATRX_uc004ecr.2_Silent_p.N222N|ATRX_uc010nlx.1_Silent_p.N261N|ATRX_uc010nly.1_Silent_p.N206N	p.N261N	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	1015	-			261			ADD.|PHD-type; atypical.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.783C>T	CCDS14434.1																																																																																				0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		28	268	0	0	0	0.00632	0	28	268				
SPANXD	64648	broad.mit.edu	37	X	140785820	140785820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:140785820G>T	ENST00000370515.3	-	2	429	c.96C>A	c.(94-96)taC>taA	p.Y32*		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	32						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GCGGGTCTGAGTACCCACTCG	0.488																																							uc004fbq.2		NA																	0					0						c.(94-96)TAC>TAA		SPANX family, member E							204.0	143.0	164.0					X																	140785820		2197	4252	6449	SO:0001587	stop_gained	171489					cytoplasm|nucleus		g.chrX:140785820G>T	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.96C>A	X.37:g.140785820G>T	ENSP00000359546:p.Tyr32*						p.Y32*	NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN			2	189	-	Acute lymphoblastic leukemia(192;7.65e-05)		32					Q5JWI1	Nonsense_Mutation	SNP	ENST00000370515.3	37	c.96C>A	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	13.62	2.290800	0.40494	.	.	ENSG00000196406	ENST00000370515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	.	.	.	.	.	.	.	X	32	.	ENSP00000359546:Y32X	Y	-	3	2	SPANXD	140613486	0.011000	0.17503	0.010000	0.14722	0.015000	0.08874	0.075000	0.14686	0.431000	0.26258	0.068000	0.15388	TAC		0.488	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			9	334	1	0	5.50884e-06	0.013537	6.30248e-06	9	334				
CXorf40A	91966	broad.mit.edu	37	X	148628443	148628443	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:148628443G>C	ENST00000441248.1	+	4	1999	c.412G>C	c.(412-414)Gga>Cga	p.G138R	RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000423540.2_Missense_Mutation_p.G138R|CXorf40A_ENST00000434353.2_Missense_Mutation_p.G138R|CXorf40A_ENST00000423421.1_Missense_Mutation_p.G138R|CXorf40A_ENST00000422892.2_Missense_Mutation_p.G138R|CXorf40A_ENST00000428236.1_Missense_Mutation_p.G76R|CXorf40A_ENST00000393985.3_Missense_Mutation_p.G138R|CXorf40A_ENST00000514208.1_Missense_Mutation_p.G138R|CXorf40A_ENST00000359293.5_Missense_Mutation_p.G138R|CXorf40A_ENST00000450602.2_Missense_Mutation_p.G138R			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	138								p.G138R(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACCTAGGAAAGGAGGCAAGGA	0.488																																							uc004fdb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(412-414)GGA>CGA		chromosome X open reading frame 40							101.0	66.0	78.0					X																	148628443		2203	4282	6485	SO:0001583	missense	91966						protein binding	g.chrX:148628443G>C	AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622	ENST00000441248.1:c.412G>C	X.37:g.148628443G>C	ENSP00000423099:p.Gly138Arg					CXorf40A_uc011mxm.1_Missense_Mutation_p.G138R|CXorf40A_uc011mxn.1_Missense_Mutation_p.G138R|CXorf40A_uc004fdd.2_Missense_Mutation_p.G138R|CXorf40A_uc004fde.1_Missense_Mutation_p.G138R|CXorf40A_uc011mxo.1_3'UTR|CXorf40A_uc004fdg.2_Missense_Mutation_p.G138R|CXorf40A_uc004fdf.2_Missense_Mutation_p.G138R|CXorf40A_uc004fdh.2_Missense_Mutation_p.G138R|CXorf40A_uc010nsy.2_Missense_Mutation_p.G138R|CXorf40A_uc004fdi.2_Missense_Mutation_p.G155R	p.G138R	NM_178124	NP_835225	Q8TE69	CX04A_HUMAN			5	684	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		138					A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	Missense_Mutation	SNP	ENST00000441248.1	37	c.412G>C	CCDS14687.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565442	0.65651	.	.	ENSG00000197620	ENST00000450602;ENST00000441248;ENST00000393985;ENST00000423421;ENST00000423540;ENST00000434353;ENST00000514208;ENST00000428236;ENST00000422892;ENST00000359293	T;T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	3.97	3.97	0.46021	PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.61218	1.895	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.991	T	0.44390	-0.9331	10	0.87932	D	0	.	14.5608	0.68133	0.0:0.0:1.0:0.0	.	138;138;138	Q8TE69;E7ENU3;D6RA72	CX04A_HUMAN;.;.	R	138;138;138;138;138;138;138;76;138;138	ENSP00000427540:G138R;ENSP00000423099:G138R;ENSP00000421745:G138R;ENSP00000422512:G138R;ENSP00000425520:G138R;ENSP00000423160:G138R;ENSP00000423708:G138R;ENSP00000426158:G76R;ENSP00000422312:G138R;ENSP00000420882:G138R	ENSP00000420882:G138R	G	+	1	0	CXorf40A	148436348	1.000000	0.71417	0.022000	0.16811	0.799000	0.45148	4.517000	0.60503	1.958000	0.56883	0.550000	0.68814	GGA		0.488	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058699.3	NM_178124		3	82	0	0	0	0.009096	0	3	82				
VAMP7	6845	broad.mit.edu	37	X	155127856	155127856	+	Silent	SNP	G	G	A			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chrX:155127856G>A	ENST00000286448.6	+	4	450	c.285G>A	c.(283-285)caG>caA	p.Q95Q	VAMP7_ENST00000460621.1_Silent_p.Q54Q|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_Silent_p.Q95Q	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	95	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)		p.Q95Q(2)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAAGAGCACAGACAGCACTTC	0.398																																							uc004fnr.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(283-285)CAG>CAA		vesicle-associated membrane protein 7 isoform 1							258.0	241.0	247.0					X																	155127856		2203	4296	6499	SO:0001819	synonymous_variant	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155127856G>A	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.285G>A	X.37:g.155127856G>A						VAMP7_uc004fnt.2_Silent_p.Q54Q|VAMP7_uc011naa.1_Silent_p.Q56Q|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Silent_p.Q95Q|VAMP7_uc011nac.1_Silent_p.Q28Q	p.Q95Q	NM_005638	NP_005629	P51809	VAMP7_HUMAN			4	459	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		95			Longin.|Cytoplasmic (Potential).		Q53GY7|Q7Z409|Q9H4A7	Silent	SNP	ENST00000286448.6	37	c.285G>A	CCDS14770.4																																																																																				0.398	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		13	183	0	0	0	0.003163	0	13	183				
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																							uc001aof.2		NA																	0				ovary(1)|skin(1)	2						c.(343-345)GAAfs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_uc010nzt.1_Frame_Shift_Del_p.E77fs|DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	p.E115fs	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	449_450	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	115					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		7	114	NA	NA	NA	NA	NA	7	114	---	---	---	---
MAN1A2	10905	broad.mit.edu	37	1	117944999	117945019	+	In_Frame_Del	DEL	TAGGAATACGTGGTGGAGACC	TAGGAATACGTGGTGGAGACC	-	rs375685342		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	TAGGAATACGTGGTGGAGACC	TAGGAATACGTGGTGGAGACC	-	-	TAGGAATACGTGGTGGAGACC	TAGGAATACGTGGTGGAGACC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr1:117944999_117945019delTAGGAATACGTGGTGGAGACC	ENST00000356554.3	+	2	1229_1249	c.494_514delTAGGAATACGTGGTGGAGACC	c.(493-516)gtaggaatacgtggtggagaccca>gca	p.165_172VGIRGGDP>A	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	165					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CCCAACCTTGTAGGAATACGTGGTGGAGACCCAGAAGATAA	0.371																																					Ovarian(33;199 881 8228 13687 31538)	Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1		NA																	0					0						c.(493-516)GTAGGAATACGTGGTGGAGACCCA>GCA		mannosidase, alpha, class 1A, member 2																																				SO:0001651	inframe_deletion	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117944999_117945019delTAGGAATACGTGGTGGAGACC	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.494_514delTAGGAATACGTGGTGGAGACC	1.37:g.117944999_117945019delTAGGAATACGTGGTGGAGACC	ENSP00000348959:p.Val165_Pro172delinsAla					MAN1A2_uc009whg.1_Intron	p.165_172VGIRGGDP>A	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	2	1215_1235	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	165_172			Lumenal (Potential).		Q9H510	In_Frame_Del	DEL	ENST00000356554.3	37	c.494_514delTAGGAATACGTGGTGGAGACC	CCDS895.1																																																																																				0.371	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		13	63	NA	NA	NA	NA	NA	13	63	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000262376.6_In_Frame_Del_p.K238del|UBN1_ENST00000545171.1_In_Frame_Del_p.K238del|UBN1_ENST00000590769.1_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																							uc002cyb.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(2)	2						c.(697-702)GAGAAG>GAG		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_uc010uxw.1_In_Frame_Del_p.K238del|UBN1_uc002cyc.2_In_Frame_Del_p.K238del	p.K238del	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			7	1037_1039	+			238			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		7	547	NA	NA	NA	NA	NA	7	547	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18194306	18194307	+	In_Frame_Ins	INS	-	-	CGA			TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr17:18194306_18194307insCGA	ENST00000321105.5	-	12	1530_1531	c.1316_1317insTCG	c.(1315-1317)cgc>cgTCGc	p.439_439R>RR	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_In_Frame_Ins_p.344_344R>RR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	439					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CCAGGAAATGGCGAACAATAAA	0.525																																							uc002gsx.1		NA																	0				skin(3)	3						c.(1315-1317)CGC>CGTCGC		topoisomerase (DNA) III alpha																																				SO:0001652	inframe_insertion	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18194306_18194307insCGA	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1314_1316dupTCG	17.37:g.18194307_18194309dupCGA	ENSP00000321636:p.Arg439dup					TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_In_Frame_Ins_p.337_337R>RR	p.439_439R>RR	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			12	1545_1546	-			439					A8KA61|B4DK80|D3DXC7|Q13473	In_Frame_Ins	INS	ENST00000321105.5	37	c.1316_1317insTCG	CCDS11194.1																																																																																				0.525	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			17	92	NA	NA	NA	NA	NA	17	92	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55242466	55242480	+	In_Frame_Del	DEL	GAATTAAGAGAAGCA	GAATTAAGAGAAGCA	-	rs121913438|rs121913439|rs397517099|rs397517098|rs397517097|rs397517096|rs397517095|rs397517094|rs121913435|rs121913436|rs121913437|rs397509368|rs121913229|rs121913441|rs121913440|rs121913442|rs121913423|rs121913422|rs121913421|rs121913427|rs121913426|rs121913425|rs121913424		TCGA-49-4501-01A-01D-1265-08	TCGA-49-4501-11A-01D-1265-08	GAATTAAGAGAAGCA	GAATTAAGAGAAGCA	-	-	GAATTAAGAGAAGCA	GAATTAAGAGAAGCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0c53bb1b-5e6f-44a8-97a0-f89d43e0e789	3f0cb3e3-47ac-433e-af67-ae24596e7d6b	g.chr7:55242466_55242480delGAATTAAGAGAAGCA	ENST00000275493.2	+	19	2413_2427	c.2236_2250delGAATTAAGAGAAGCA	c.(2236-2250)gaattaagagaagcadel	p.ELREA746del	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_In_Frame_Del_p.ELREA701del|EGFR_ENST00000454757.2_In_Frame_Del_p.ELREA693del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		ELREAT -> A (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|ELREATS -> D (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:15623594}.|Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.T751_E758del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CGCTATCAAGGAATTAAGAGAAGCAACATCTCCGA	0.474	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2	E746_A750del(NCIH1650_LUNG)|E746K(HCC827_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		1571	Deletion - In frame(1162)|Complex - deletion inframe(388)|Substitution - Missense(16)|Insertion - In frame(4)|Complex - compound substitution(1)	p.E746_A750del(1613)|p.L747_P753>S(110)|p.L747_A750>P(74)|p.E746_S752>V(67)|p.L747_T751del(62)|p.E746_T751>A(30)|p.L747_S752del(28)|p.L747_T751>P(20)|p.E746_T751del(18)|p.L747_E749del(18)|p.K745_E749del(14)|p.E746_E749del(12)|p.E746_S752del(10)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_P753>VS(6)|p.E746_A750>IP(5)|p.L747_T751>Q(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.E746_A750>QP(4)|p.E746V(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.L747S(3)|p.L747_S752>Q(3)|p.A750P(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.E746_S752>T(2)|p.A750_E758>P(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_T751>L(2)|p.E746K(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.K745_E746insVPVAIK(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.E746_T751>P(1)|p.E746del(1)|p.A750_K754del(1)|p.L747_S752>QH(1)|p.L747P(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_T751>A(1)|p.E746_P753>LS(1)|p.E746_P753>VQ(1)|p.E746_T751>LS(1)|p.A750_E758del(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746I(1)|p.L747_K754del(1)|p.R748I(1)|p.E746_A750>KP(1)|p.T751_E758del(1)|p.E746_A750>EP(1)	lung(1544)|upper_aerodigestive_tract(9)|salivary_gland(6)|thyroid(3)|large_intestine(2)|breast(2)|ovary(2)|central_nervous_system(1)|prostate(1)|kidney(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2236-2250)GAATTAAGAGAAGCAdel		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55242466_55242480delGAATTAAGAGAAGCA		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2236_2250delGAATTAAGAGAAGCA	7.37:g.55242466_55242480delGAATTAAGAGAAGCA	ENSP00000275493:p.Glu746_Ala750del	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Del_p.ELREA701del|EGFR_uc011kco.1_In_Frame_Del_p.ELREA693del	p.ELREA746del	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2482_2496	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		746_750		Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Del	DEL	ENST00000275493.2	37	c.2236_2250delGAATTAAGAGAAGCA	CCDS5514.1																																																																																				0.474	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		22	148	NA	NA	NA	NA	NA	22	148	---	---	---	---
