#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
SCNN1D	6339	broad.mit.edu	37	1	1221398	1221398	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:1221398C>T	ENST00000338555.2	+	4	1303	c.159C>T	c.(157-159)ccC>ccT	p.P53P	SCNN1D_ENST00000325425.8_Silent_p.P119P|SCNN1D_ENST00000379116.5_Silent_p.P217P|SCNN1D_ENST00000400928.3_Silent_p.P53P			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	53					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TGGAGCTGCCCGCCTCGTTCC	0.697																																						uc001adu.1		NaN																	0					0						c.(157-159)CCC>CCT		sodium channel, nonvoltage-gated 1, delta							19.0	14.0	16.0					1																	1221398		2138	4219	6357	SO:0001819	synonymous_variant	6339							g.chr1:1221398C>T	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.159C>T	1.37:g.1221398C>T						SCNN1D_uc001adt.1_Silent_p.P217P|SCNN1D_uc001adw.2_Silent_p.P119P|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Silent_p.P53P	p.P53P	NM_002978	NP_002969				Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	6	783	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Silent	SNP	ENST00000338555.2	37	c.159C>T																																																																																					0.697	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2		NM_002978		3	6	0	0	0	0.009096	0	3	6		
CASZ1	54897	broad.mit.edu	37	1	10715772	10715772	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:10715772G>A	ENST00000377022.3	-	9	1916	c.1599C>T	c.(1597-1599)gaC>gaT	p.D533D	CASZ1_ENST00000344008.5_Silent_p.D533D|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	533					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCTGCAGTCGTCCAGCGGGC	0.612																																						uc001aro.2		NaN																	0				skin(1)	1						c.(1597-1599)GAC>GAT		castor homolog 1, zinc finger isoform a							193.0	139.0	157.0					1																	10715772		2202	4300	6502	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10715772G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1599C>T	1.37:g.10715772G>A						CASZ1_uc001arp.1_Silent_p.D533D|CASZ1_uc009vmx.2_Silent_p.D557D	p.D533D	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	9	1919	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	533					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.1599C>T	CCDS41246.1																																																																																				0.612	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2		NM_017766		10	47	0	0	0	0.058154	0	10	47		
MAD2L2	10459	broad.mit.edu	37	1	11740482	11740482	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:11740482G>A	ENST00000235310.3	-	5	1015	c.87C>T	c.(85-87)ctC>ctT	p.L29L	MAD2L2_ENST00000376672.1_Silent_p.L29L|MAD2L2_ENST00000376669.5_Silent_p.L29L|MAD2L2_ENST00000376692.4_Silent_p.L29L|MAD2L2_ENST00000376667.3_Silent_p.L29L			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	29	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Mediates interaction with REV1 and REV3L and homodimerization.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTAGAGGATGAGATGCACAG	0.647								DNA polymerases (catalytic subunits)																														uc001asp.2		NaN																	0					0						c.(85-87)CTC>CTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	MAD2 homolog							116.0	115.0	115.0					1																	11740482		2203	4300	6503	SO:0001819	synonymous_variant	10459				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding	g.chr1:11740482G>A	AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"""DNA polymerases"""	6764	protein-coding gene	gene with protein product	"""mitotic arrest deficient homolog-like 2"", ""polymerase (DNA-directed), zeta 2, accessory subunit"""	604094	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"""			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.87C>T	1.37:g.11740482G>A						MAD2L2_uc009vnc.2_Silent_p.L29L|MAD2L2_uc001asq.3_Silent_p.L29L	p.L29L	NM_006341	NP_006332	Q9UI95	MD2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	275	-	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	29			Mediates interaction with REV1 and REV3L and homodimerization.|HORMA.		B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Silent	SNP	ENST00000235310.3	37	c.87C>T	CCDS134.1																																																																																				0.647	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006344.2		NM_006341		50	144	0	0	0	0.139131	0	50	144		
KDM1A	23028	broad.mit.edu	37	1	23408824	23408824	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:23408824A>G	ENST00000356634.3	+	18	2487	c.2338A>G	c.(2338-2340)Atc>Gtc	p.I780V	KDM1A_ENST00000400181.4_Missense_Mutation_p.I804V|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.I804V	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	780	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGCTCAGCCAATCACTCCTGG	0.527																																						uc001bgi.2		NaN																	0				ovary(1)|lung(1)	2						c.(2338-2340)ATC>GTC		lysine-specific histone demethylase 1 isoform b							75.0	72.0	73.0					1																	23408824		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23408824A>G	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.2338A>G	1.37:g.23408824A>G	ENSP00000349049:p.Ile780Val					KDM1A_uc001bgj.2_Missense_Mutation_p.I804V	p.I780V	NM_015013	NP_055828	O60341	KDM1A_HUMAN			18	2487	+			780			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.2338A>G	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	A	7.092	0.572281	0.13623	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.91521	-2.86;-2.86;-2.86	5.79	5.79	0.91817	Amine oxidase (1);	0.088480	0.85682	D	0.000000	T	0.70002	0.3174	N	0.00599	-1.345	0.80722	D	1	B;B	0.14805	0.011;0.002	B;B	0.09377	0.004;0.002	T	0.72334	-0.4325	10	0.02654	T	1	-19.625	15.3188	0.74105	1.0:0.0:0.0:0.0	.	804;780	O60341-2;O60341	.;KDM1A_HUMAN	V	780;804;804	ENSP00000349049:I780V;ENSP00000383042:I804V;ENSP00000439072:I804V	ENSP00000349049:I780V	I	+	1	0	KDM1A	23281411	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	7.519000	0.81809	2.212000	0.71576	0.533000	0.62120	ATC		0.527	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3		NM_015013		19	51	0	0	0	0.049695	0	19	51		
MYOM3	127294	broad.mit.edu	37	1	24419481	24419481	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:24419481G>A	ENST00000374434.3	-	10	1208	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L	MYOM3_ENST00000330966.7_Missense_Mutation_p.S350L|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.S349L	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCGAAGGGCGAGGGCACCCG	0.642																																						uc001bin.3		NaN																	0				skin(2)|ovary(1)	3						c.(1045-1047)TCG>TTG		myomesin family, member 3							30.0	35.0	33.0					1																	24419481		1986	4138	6124	SO:0001583	missense	127294							g.chr1:24419481G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1046C>T	1.37:g.24419481G>A	ENSP00000363557:p.Ser349Leu					MYOM3_uc001bim.3_Missense_Mutation_p.S6L|MYOM3_uc001bio.2_Missense_Mutation_p.S349L|MYOM3_uc001bip.1_Missense_Mutation_p.S6L	p.S349L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	10	1209	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	349			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.1046C>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276578	0.40294	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.43688	0.94;0.94;0.94	5.36	3.48	0.39840	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.242278	0.42053	D	0.000766	T	0.53158	0.1779	M	0.66939	2.045	0.09310	N	1	D;P;D	0.69078	0.995;0.879;0.997	P;B;P	0.58454	0.73;0.358;0.839	T	0.44772	-0.9306	10	0.66056	D	0.02	.	8.741	0.34558	0.1776:0.0:0.8224:0.0	.	6;349;349	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	L	349;350;349	ENSP00000363557:S349L;ENSP00000332670:S350L;ENSP00000328415:S349L	ENSP00000328415:S349L	S	-	2	0	MYOM3	24292068	0.895000	0.30542	0.020000	0.16555	0.014000	0.08584	3.886000	0.56190	1.271000	0.44313	0.650000	0.86243	TCG		0.642	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		9	28	0	0	0	0.047766	0	9	28		
ARID1A	8289	broad.mit.edu	37	1	27097694	27097694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:27097694C>T	ENST00000324856.7	+	12	3654	c.3283C>T	c.(3283-3285)Cag>Tag	p.Q1095*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q712*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1095*|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1095	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTTGAAAAAGCAGTATATCCA	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3283-3285)CAG>TAG		AT rich interactive domain 1A isoform a							89.0	81.0	84.0					1																	27097694		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27097694C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3283C>T	1.37:g.27097694C>T	ENSP00000320485:p.Gln1095*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1095*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1095*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q712*|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	p.Q1095*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	12	3656	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1095			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.3283C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	42	9.807789	0.99268	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-6.6276	19.4303	0.94760	0.0:1.0:0.0:0.0	.	.	.	.	X	1095;1095;712	.	ENSP00000320485:Q1095X	Q	+	1	0	ARID1A	26970281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.830000	0.97506	0.655000	0.94253	CAG		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		13	74	0	0	0	0.105934	0	13	74		
KIAA0319L	79932	broad.mit.edu	37	1	35917362	35917362	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:35917362C>T	ENST00000325722.3	-	13	2163	c.1929G>A	c.(1927-1929)gtG>gtA	p.V643V	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.V80V	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	643	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTCGAGCTGCACCCCATCAG	0.507											OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001byx.2		NaN																	0				skin(2)	2						c.(1927-1929)GTG>GTA		dyslexia susceptibility 2-like							118.0	114.0	115.0					1																	35917362		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35917362C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1929G>A	1.37:g.35917362C>T			OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	859	KIAA0319L_uc001byw.2_Silent_p.V85V|KIAA0319L_uc010ohv.1_Silent_p.V285V	p.V643V	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			13	2187	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	643			PKD 4.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.1929G>A	CCDS390.1																																																																																				0.507	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2		NM_024874		71	111	0	0	0	0.139131	0	71	111		
KIAA0754	643314	broad.mit.edu	37	1	39879235	39879235	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:39879235A>C	ENST00000530275.1	+	1	3085	c.2890A>C	c.(2890-2892)Acc>Ccc	p.T964P	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	964	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAGTGCCCACCCCAGAGGA	0.731																																						uc009vvt.1		NaN																	0					0						c.(3298-3300)ACC>CCC		hypothetical protein LOC643314							2.0	2.0	2.0					1																	39879235		760	2258	3018	SO:0001583	missense	643314							g.chr1:39879235A>C			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2890A>C	1.37:g.39879235A>C	ENSP00000431179:p.Thr964Pro					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.T1100P	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4060	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	964			7.|Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.3298A>C		.	.	.	.	.	.	.	.	.	.	A	13.80	2.344355	0.41498	.	.	ENSG00000255103	ENST00000530275	T	0.25579	1.79	4.61	-9.21	0.00678	.	.	.	.	.	T	0.09992	0.0245	N	0.14661	0.345	0.09310	N	1	P	0.43094	0.799	B	0.41764	0.366	T	0.09357	-1.0678	9	0.34782	T	0.22	.	0.536	0.00636	0.2536:0.1822:0.2946:0.2697	.	964	O94854	K0754_HUMAN	P	964	ENSP00000431179:T964P	ENSP00000431179:T964P	T	+	1	0	RP4-562N20.1	39651822	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-2.071000	0.01378	-2.625000	0.00437	0.113000	0.15668	ACC		0.731	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038		4	80	0	0	0	0.02938	0	4	80		
ACOT11	26027	broad.mit.edu	37	1	55072835	55072835	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:55072835G>A	ENST00000371316.3	+	14	1481	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	ACOT11_ENST00000343744.2_Missense_Mutation_p.E467K|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	467	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCAGGTAGACGAGGACGACGC	0.647																																					Ovarian(148;1440 1861 22015 32453 51933)	uc001cxm.1		NaN																	0				central_nervous_system(1)	1						c.(1399-1401)GAG>AAG		thioesterase, adipose associated isoform BFIT1							110.0	78.0	89.0					1																	55072835		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55072835G>A	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1399G>A	1.37:g.55072835G>A	ENSP00000360366:p.Glu467Lys					ACOT11_uc001cxj.1_Missense_Mutation_p.E345K|ACOT11_uc001cxl.1_Missense_Mutation_p.E467K	p.E467K	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN			14	1481	+			467			START.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.1399G>A	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523675	0.64747	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	D;D	0.84442	-1.85;-1.85	5.24	4.32	0.51571	Lipid-binding START (3);START-like domain (1);	0.314500	0.37906	N	0.001893	D	0.82430	0.5035	M	0.75615	2.305	0.50467	D	0.999878	B;B	0.31949	0.348;0.06	B;B	0.26770	0.073;0.018	T	0.81143	-0.1067	10	0.48119	T	0.1	-30.0716	10.6059	0.45394	0.0721:0.1342:0.7937:0.0	.	467;467	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	K	467	ENSP00000340260:E467K;ENSP00000360366:E467K	ENSP00000340260:E467K	E	+	1	0	ACOT11	54845423	1.000000	0.71417	0.110000	0.21437	0.964000	0.63967	4.485000	0.60279	1.336000	0.45506	0.561000	0.74099	GAG		0.647	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1		NM_015547		9	28	0	0	0	0.047766	0	9	28		
WLS	79971	broad.mit.edu	37	1	68697918	68697918	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:68697918A>T	ENST00000262348.4	-	1	318	c.65T>A	c.(64-66)cTc>cAc	p.L22H	WLS_ENST00000354777.2_Missense_Mutation_p.L22H|WLS_ENST00000370976.3_Missense_Mutation_p.L22H|WLS_ENST00000370971.1_Missense_Mutation_p.L22H|WLS_ENST00000540432.1_Missense_Mutation_p.L22H	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	22					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TTGGAACACGAGCAGAATCCC	0.488																																						uc001def.1		NaN																	0					0						c.(64-66)CTC>CAC		G protein-coupled receptor 177 isoform 1							177.0	163.0	167.0					1																	68697918		2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68697918A>T	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.65T>A	1.37:g.68697918A>T	ENSP00000262348:p.Leu22His					WLS_uc001dee.2_Missense_Mutation_p.L22H|WLS_uc001deg.1_Missense_Mutation_p.L22H|WLS_uc001deh.1_Missense_Mutation_p.L22H	p.L22H	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN			1	336	-			22					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	c.65T>A	CCDS642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	21.2|21.2	4.117621|4.117621	0.77323|0.77323	.|.	.|.	ENSG00000116729|ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976;ENST00000370971|ENST00000534713	T;T;T;T;T|.	0.55588|.	1.52;1.52;1.52;0.51;1.52|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	0.073225|.	0.56097|.	D|.	0.000026|.	T|T	0.69815|0.69815	0.3153|0.3153	M|M	0.81341|0.81341	2.54|2.54	0.58432|0.58432	D|D	0.999999|0.999999	D;P;D;D|.	0.89917|.	1.0;0.681;0.998;1.0|.	D;B;P;D|.	0.71184|.	0.972;0.315;0.829;0.961|.	T|T	0.73193|0.73193	-0.4060|-0.4060	10|5	0.87932|.	D|.	0|.	-23.3885|-23.3885	14.5574|14.5574	0.68109|0.68109	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	22;22;22;22|.	Q7Z430;Q5JRS7;Q5T9L3;Q5T9L3-2|.	.;.;WLS_HUMAN;.|.	H|T	22|16	ENSP00000446112:L22H;ENSP00000346829:L22H;ENSP00000262348:L22H;ENSP00000360015:L22H;ENSP00000360010:L22H|.	ENSP00000262348:L22H|.	L|S	-|-	2|1	0|0	WLS|WLS	68470506|68470506	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.986000|0.986000	0.74619|0.74619	8.128000|8.128000	0.89595|0.89595	1.905000|1.905000	0.55150|0.55150	0.249000|0.249000	0.18162|0.18162	CTC|TCG		0.488	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1		NM_024911		15	72	0	0	0	0.049695	0	15	72		
TMEM167B	56900	broad.mit.edu	37	1	109635586	109635586	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:109635586C>T	ENST00000338272.8	+	2	1155	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	TMEM167B_ENST00000473828.1_3'UTR|RP5-1065J22.8_ENST00000608574.1_RNA	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	29						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						GAAAGTACCTCGTCTCAAAAC	0.453																																						uc001dwn.2		NaN																	0					0						c.(85-87)CGT>TGT		transmembrane protein 167B precursor							266.0	279.0	275.0					1																	109635586		2203	4299	6502	SO:0001583	missense	56900					Golgi membrane|integral to membrane		g.chr1:109635586C>T		CCDS30789.1	1p13.3	2008-06-06	2008-06-06	2008-06-06	ENSG00000215717	ENSG00000215717			30187	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 119"""	C1orf119		12477932	Standard	NM_020141		Approved	AD-020, FLJ90710	uc001dwn.3	Q9NRX6	OTTHUMG00000042364	ENST00000338272.8:c.85C>T	1.37:g.109635586C>T	ENSP00000342148:p.Arg29Cys					TMEM167B_uc009weu.2_Intron	p.R29C	NM_020141	NP_064526	Q9NRX6	KISHB_HUMAN			2	177	+			29			Extracellular (Potential).		B2RUU9	Missense_Mutation	SNP	ENST00000338272.8	37	c.85C>T	CCDS30789.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166229	0.78339	.	.	ENSG00000215717	ENST00000338272	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	U	0.000002	T	0.47469	0.1447	.	.	.	0.80722	D	1	B	0.23540	0.087	B	0.23716	0.048	T	0.51980	-0.8636	8	0.87932	D	0	-15.7037	17.1829	0.86859	0.0:1.0:0.0:0.0	.	29	Q9NRX6	KISHB_HUMAN	C	29	.	ENSP00000342148:R29C	R	+	1	0	TMEM167B	109437109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.109000	0.64615	2.641000	0.89580	0.650000	0.86243	CGT		0.453	TMEM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100611.2		NM_020141		90	297	0	0	0	0.139131	0	90	297		
GPR61	83873	broad.mit.edu	37	1	110086286	110086287	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086286_110086287CC>TA	ENST00000527748.1	+	2	1325_1326	c.642_643CC>TA	c.(640-645)gtCCtt>gtTAtt	p.L215I	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTTGCTGTCCTTTACTTTCT	0.609																																						uc001dxy.2		NaN																	0				central_nervous_system(2)	2						c.(640-645)GTCCTT>GTTATT		G protein-coupled receptor 61																																				SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086286_110086287CC>TA	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	Exception_encountered	1.37:g.110086286_110086287delinsTA	ENSP00000432456:p.Leu215Ile						p.L215I	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1325_1326	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	215			Helical; Name=5; (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	DNP	ENST00000527748.1	37	c.642_643CC>TA	CCDS801.1																																																																																				0.609	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1				25	902	0	0	0	0.115264	0	25	902		
GPR61	83873	broad.mit.edu	37	1	110086421	110086421	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086421C>G	ENST00000527748.1	+	2	1460	c.777C>G	c.(775-777)ctC>ctG	p.L259L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGAATCTCTCAGCAGCCGCT	0.672																																						uc001dxy.2		NaN																	0				central_nervous_system(2)	2						c.(775-777)CTC>CTG		G protein-coupled receptor 61							49.0	58.0	55.0					1																	110086421		2203	4300	6503	SO:0001819	synonymous_variant	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086421C>G	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.777C>G	1.37:g.110086421C>G							p.L259L	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1460	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	259			Cytoplasmic (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	c.777C>G	CCDS801.1																																																																																				0.672	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1				24	673	0	0	0	0.083992	0	24	673		
GPR61	83873	broad.mit.edu	37	1	110086532	110086532	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086532C>T	ENST00000527748.1	+	2	1571	c.888C>T	c.(886-888)ttC>ttT	p.F296F	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGGACAGTTCCTGCTCTGTT	0.607																																						uc001dxy.2		NaN																	0				central_nervous_system(2)	2						c.(886-888)TTC>TTT		G protein-coupled receptor 61							94.0	99.0	98.0					1																	110086532		2203	4300	6503	SO:0001819	synonymous_variant	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086532C>T	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.888C>T	1.37:g.110086532C>T							p.F296F	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1571	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	296			Helical; Name=6; (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	c.888C>T	CCDS801.1																																																																																				0.607	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1				24	536	0	0	0	0.076483	0	24	536		
GPR61	83873	broad.mit.edu	37	1	110086556	110086556	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086556C>G	ENST00000527748.1	+	2	1595	c.912C>G	c.(910-912)ttC>ttG	p.F304L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCCCTACTTCTCTTTCCACC	0.577																																						uc001dxy.2		NaN																	0				central_nervous_system(2)	2						c.(910-912)TTC>TTG		G protein-coupled receptor 61							113.0	120.0	118.0					1																	110086556		2203	4300	6503	SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086556C>G	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.912C>G	1.37:g.110086556C>G	ENSP00000432456:p.Phe304Leu						p.F304L	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1595	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	304			Helical; Name=6; (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.912C>G	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897521	0.52121	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.37915	1.17	5.25	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51143	0.1657	M	0.88105	2.93	0.44780	D	0.99778	D	0.89917	1.0	D	0.87578	0.998	T	0.58595	-0.7609	10	0.87932	D	0	-4.2572	9.9926	0.41881	0.0:0.6923:0.0:0.3077	.	304	Q9BZJ8	GPR61_HUMAN	L	304;432	ENSP00000432456:F304L	ENSP00000286603:F432L	F	+	3	2	GPR61	109888079	0.929000	0.31497	0.996000	0.52242	0.981000	0.71138	0.241000	0.18065	0.036000	0.15547	0.655000	0.94253	TTC		0.577	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1				22	705	0	0	0	0.069288	0	22	705		
GPR61	83873	broad.mit.edu	37	1	110086651	110086651	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086651C>G	ENST00000527748.1	+	2	1690	c.1007C>G	c.(1006-1008)tCc>tGc	p.S336C	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	336						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCTTCACTTCCAACCCTTTC	0.532																																						uc001dxy.2		NaN																	0				central_nervous_system(2)	2						c.(1006-1008)TCC>TGC		G protein-coupled receptor 61							151.0	160.0	157.0					1																	110086651		2203	4300	6503	SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086651C>G	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1007C>G	1.37:g.110086651C>G	ENSP00000432456:p.Ser336Cys						p.S336C	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1690	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	336			Helical; Name=7; (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.1007C>G	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149843	0.57151	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.37235	1.21	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.061339	0.64402	D	0.000002	T	0.39572	0.1083	N	0.25647	0.755	0.50313	D	0.999864	D	0.64830	0.994	D	0.66351	0.943	T	0.36016	-0.9765	10	0.72032	D	0.01	-25.4328	18.5373	0.91015	0.0:1.0:0.0:0.0	.	336	Q9BZJ8	GPR61_HUMAN	C	336;464	ENSP00000432456:S336C	ENSP00000286603:S464C	S	+	2	0	GPR61	109888174	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.637000	0.46553	2.711000	0.92665	0.655000	0.94253	TCC		0.532	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1				25	742	0	0	0	0.125774	0	25	742		
GPR61	83873	broad.mit.edu	37	1	110086715	110086715	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086715C>G	ENST00000527748.1	+	2	1754	c.1071C>G	c.(1069-1071)gtC>gtG	p.V357V	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	357						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCAGTTTGTCTGCTTCTTCA	0.562																																						uc001dxy.2		NaN																	0				central_nervous_system(2)	2						c.(1069-1071)GTC>GTG		G protein-coupled receptor 61							69.0	74.0	73.0					1																	110086715		2203	4300	6503	SO:0001819	synonymous_variant	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086715C>G	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1071C>G	1.37:g.110086715C>G							p.V357V	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1754	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	357			Cytoplasmic (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	c.1071C>G	CCDS801.1																																																																																				0.562	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1				16	498	0	0	0	0.0333	0	16	498		
GPR61	83873	broad.mit.edu	37	1	110086724	110086724	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110086724C>T	ENST00000527748.1	+	2	1763	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	360						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTGCTTCTTCAAGCCAGCTC	0.557																																						uc001dxy.2		NaN																	0				central_nervous_system(2)	2						c.(1078-1080)TTC>TTT		G protein-coupled receptor 61							61.0	67.0	65.0					1																	110086724		2203	4300	6503	SO:0001819	synonymous_variant	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086724C>T	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1080C>T	1.37:g.110086724C>T							p.F360F	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1763	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	360			Cytoplasmic (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	c.1080C>T	CCDS801.1																																																																																				0.557	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1				14	466	0	0	0	0.146539	0	14	466		
GSTM5	2949	broad.mit.edu	37	1	110255280	110255280	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:110255280C>G	ENST00000256593.3	+	2	135	c.77C>G	c.(76-78)tCa>tGa	p.S26*	GSTM5_ENST00000369813.1_5'UTR|GSTM5_ENST00000369812.5_Nonsense_Mutation_p.S26*	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	26	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TACACAGACTCAAGCTATGTG	0.607																																						uc001dyn.2		NaN																	0				central_nervous_system(6)	6						c.(76-78)TCA>TGA		glutathione S-transferase mu 5	Glutathione(DB00143)						84.0	89.0	87.0					1																	110255280		2203	4300	6503	SO:0001587	stop_gained	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110255280C>G	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.77C>G	1.37:g.110255280C>G	ENSP00000256593:p.Ser26*					GSTM5_uc010ovu.1_5'UTR	p.S26*	NM_000851	NP_000842	P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	148	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	26			GST N-terminal.		A8K0V8|Q6PD78	Nonsense_Mutation	SNP	ENST00000256593.3	37	c.77C>G	CCDS811.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032376	0.75504	.	.	ENSG00000134201	ENST00000256593;ENST00000369812	.	.	.	4.74	4.74	0.60224	.	0.671360	0.11674	U	0.540565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.9914	0.71390	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000256593:S26X	S	+	2	0	GSTM5	110056803	0.201000	0.23410	0.140000	0.22221	0.307000	0.27823	4.267000	0.58877	2.324000	0.78689	0.505000	0.49811	TCA		0.607	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1		NM_000851		20	690	0	0	0	0.049695	0	20	690		
KCNA10	3744	broad.mit.edu	37	1	111061247	111061247	+	Missense_Mutation	SNP	C	C	T	rs375380259		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:111061247C>T	ENST00000369771.2	-	1	550	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	55					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TTGGTGCTTTCGCTGATGAGG	0.582																																						uc001dzt.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(163-165)GAA>AAA		potassium voltage-gated channel, shaker-related		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	78.0	85.0	83.0		163	5.4	0.7	1		83	0,8600		0,0,4300	no	missense	KCNA10	NM_005549.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	55/512	111061247	1,13005	2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111061247C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.163G>A	1.37:g.111061247C>T	ENSP00000358786:p.Glu55Lys						p.E55K	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	551	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	55						Missense_Mutation	SNP	ENST00000369771.2	37	c.163G>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.829905	0.50845	2.27E-4	0.0	ENSG00000143105	ENST00000369771	D	0.96913	-4.17	5.45	5.45	0.79879	.	.	.	.	.	D	0.87857	0.6283	N	0.22421	0.69	0.39236	D	0.963763	B	0.33748	0.423	B	0.19391	0.025	D	0.87502	0.2434	9	0.21540	T	0.41	.	18.2722	0.90072	0.0:1.0:0.0:0.0	.	55	Q16322	KCA10_HUMAN	K	55	ENSP00000358786:E55K	ENSP00000358786:E55K	E	-	1	0	KCNA10	110862770	1.000000	0.71417	0.661000	0.29709	0.537000	0.34900	6.090000	0.71397	2.546000	0.85860	0.655000	0.94253	GAA		0.582	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1		NM_005549		14	79	0	0	0	0.11911	0	14	79		
ANKRD35	148741	broad.mit.edu	37	1	145561860	145561860	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:145561860G>A	ENST00000355594.4	+	10	1635	c.1548G>A	c.(1546-1548)ccG>ccA	p.P516P		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	516										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCAAGACCGGTCATGGAGG	0.627																																					Melanoma(9;127 754 22988 51047)	uc001eob.1		NaN																	0				ovary(4)|skin(1)	5						c.(1546-1548)CCG>CCA		ankyrin repeat domain 35							82.0	99.0	93.0					1																	145561860		2202	4297	6499	SO:0001819	synonymous_variant	148741							g.chr1:145561860G>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1548G>A	1.37:g.145561860G>A						NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.P359P	p.P516P	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			10	1656	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		516					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.1548G>A	CCDS919.1																																																																																				0.627	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1		NM_144698		57	201	0	0	0	0.139131	0	57	201		
ECM1	1893	broad.mit.edu	37	1	150482400	150482400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:150482400C>T	ENST00000369047.4	+	4	351	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	ECM1_ENST00000346569.6_Nonsense_Mutation_p.Q76*|ECM1_ENST00000369049.4_Nonsense_Mutation_p.Q103*|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	76					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTCTATAGTGCAGCCCCCTCC	0.617																																					Melanoma(156;1696 2560 11093 19685)	uc001eus.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(226-228)CAG>TAG		extracellular matrix protein 1 isoform 1							59.0	58.0	58.0					1																	150482400		2203	4300	6503	SO:0001587	stop_gained	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150482400C>T	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.226C>T	1.37:g.150482400C>T	ENSP00000358043:p.Gln76*					ECM1_uc010pce.1_Intron|ECM1_uc010pcf.1_Intron|ECM1_uc001eut.2_Nonsense_Mutation_p.Q76*|ECM1_uc001euu.2_Nonsense_Mutation_p.Q105*|ECM1_uc001euv.2_Nonsense_Mutation_p.Q103*|ECM1_uc009wlu.2_5'UTR	p.Q76*	NM_004425	NP_004416	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		4	425	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		76					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Nonsense_Mutation	SNP	ENST00000369047.4	37	c.226C>T	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686002	0.68157	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	.	.	.	4.44	4.44	0.53790	.	5.031470	0.00465	N	0.000111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	1.2359	12.8083	0.57626	0.0:1.0:0.0:0.0	.	.	.	.	X	103;76;76	.	ENSP00000271630:Q76X	Q	+	1	0	ECM1	148749024	0.984000	0.35163	0.932000	0.37286	0.147000	0.21601	1.185000	0.32065	2.498000	0.84270	0.449000	0.29647	CAG		0.617	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2		NM_004425		12	75	0	0	0	0.080935	0	12	75		
CHRNB2	1141	broad.mit.edu	37	1	154544295	154544295	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:154544295G>A	ENST00000368476.3	+	5	1260	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	332					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ACACCATGGCGCCCTGGGTGA	0.642																																						uc001ffg.2		NaN																	0					0						c.(994-996)GCG>GCA		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						71.0	51.0	58.0					1																	154544295		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544295G>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.996G>A	1.37:g.154544295G>A							p.A332A	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1260	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		332			Cytoplasmic (Potential).		Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.996G>A	CCDS1070.1																																																																																				0.642	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1		NM_000748		5	34	0	0	0	0.014758	0	5	34		
SH2D2A	9047	broad.mit.edu	37	1	156784028	156784028	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:156784028C>T	ENST00000368199.3	-	4	520	c.367G>A	c.(367-369)Gag>Aag	p.E123K	SH2D2A_ENST00000392306.2_Missense_Mutation_p.E133K|SH2D2A_ENST00000495306.1_5'Flank|NTRK1_ENST00000392302.2_5'Flank|SH2D2A_ENST00000368198.3_Missense_Mutation_p.E105K	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	123	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCGCGCTCTCGCTGAACCGC	0.692																																						uc001fqd.2		NaN																	0					0						c.(367-369)GAG>AAG		SH2 domain protein 2A isoform 2							33.0	33.0	33.0					1																	156784028		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156784028C>T	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.367G>A	1.37:g.156784028C>T	ENSP00000357182:p.Glu123Lys					SH2D2A_uc001fqc.1_Missense_Mutation_p.E95K|SH2D2A_uc009wsh.2_Missense_Mutation_p.E133K|SH2D2A_uc001fqe.2_Missense_Mutation_p.E105K|SH2D2A_uc010phs.1_Missense_Mutation_p.E123K|NTRK1_uc001fqf.1_5'Flank|NTRK1_uc009wsi.1_5'Flank	p.E123K	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			4	507	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		123			SH2.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.367G>A	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511459	0.96402	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	D;D;D	0.97279	-4.32;-4.32;-4.32	4.64	4.64	0.57946	SH2 motif (5);	0.119294	0.56097	D	0.000031	D	0.98235	0.9416	M	0.82323	2.585	0.47374	D	0.999405	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.994	D	0.98802	1.0740	10	0.72032	D	0.01	-26.0201	14.764	0.69626	0.0:1.0:0.0:0.0	.	133;105;123	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	K	123;105;133	ENSP00000357182:E123K;ENSP00000357181:E105K;ENSP00000376123:E133K	ENSP00000357181:E105K	E	-	1	0	SH2D2A	155050652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.941000	0.56607	2.572000	0.86782	0.556000	0.70494	GAG		0.692	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1		NM_003975		7	40	0	0	0	0.047766	0	7	40		
CD1C	911	broad.mit.edu	37	1	158261130	158261130	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158261130T>A	ENST00000368170.3	+	2	547	c.268T>A	c.(268-270)Ttc>Atc	p.F90I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	90					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTATTTCGTTTCTACCTCTT	0.398																																						uc001fru.2		NaN																	0				ovary(2)|skin(1)|pancreas(1)	4						c.(268-270)TTC>ATC		CD1C antigen precursor							110.0	107.0	108.0					1																	158261130		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158261130T>A	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.268T>A	1.37:g.158261130T>A	ENSP00000357152:p.Phe90Ile					CD1C_uc001frv.2_5'Flank	p.F90I	NM_001765	NP_001756	P29017	CD1C_HUMAN			2	560	+	all_hematologic(112;0.0378)		90			Extracellular (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.268T>A	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.764|8.764	0.924236|0.924236	0.18056|0.18056	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170|ENST00000443761	T|.	0.13778|.	2.56|.	3.52|3.52	-7.03|-7.03	0.01584|0.01584	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.570860|1.570860	0.04562|0.04562	N|N	0.391814|0.391814	T|T	0.01353|0.01353	0.0044|0.0044	N|N	0.00483|0.00483	-1.445|-1.445	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.27331|0.27331	-1.0077|-1.0077	10|6	0.21540|.	T|.	0.41|.	.|.	1.4978|1.4978	0.02470|0.02470	0.1695:0.2224:0.1529:0.4552|0.1695:0.2224:0.1529:0.4552	.|.	90|.	P29017|.	CD1C_HUMAN|.	I|Y	90|24	ENSP00000357152:F90I|.	ENSP00000357151:F90I|.	F|F	+|+	1|2	0|0	CD1C|CD1C	156527754|156527754	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-2.388000|-2.388000	0.01059|0.01059	-1.768000|-1.768000	0.01298|0.01298	-0.823000|-0.823000	0.03104|0.03104	TTC|TTT		0.398	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2		NM_001765		21	110	0	0	0	0.055883	0	21	110		
SPTA1	6708	broad.mit.edu	37	1	158589083	158589083	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158589083G>C	ENST00000368147.4	-	45	6639	c.6459C>G	c.(6457-6459)gtC>gtG	p.V2153V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2153					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAAGTTCTTGACCTGTCTTG	0.473																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6457-6459)GTC>GTG		spectrin, alpha, erythrocytic 1							286.0	278.0	281.0					1																	158589083		2013	4176	6189	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158589083G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6459C>G	1.37:g.158589083G>C							p.V2153V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			45	6658	-	all_hematologic(112;0.0378)		2153					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6459C>G	CCDS41423.1																																																																																				0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		7	239	0	0	0	0.02938	0	7	239		
OR6K6	128371	broad.mit.edu	37	1	158725151	158725151	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:158725151C>T	ENST00000368144.2	+	1	642	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GTGGCTTCCTCCTTGTGCTTC	0.478																																						uc001fsw.1		NaN																	0				skin(1)	1						c.(544-546)CTC>CTT		olfactory receptor, family 6, subfamily K,							146.0	118.0	128.0					1																	158725151		2203	4300	6503	SO:0001819	synonymous_variant	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725151C>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.546C>T	1.37:g.158725151C>T							p.L182L	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	546	+	all_hematologic(112;0.0378)		182			Helical; Name=4; (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	ENST00000368144.2	37	c.546C>T	CCDS30904.1																																																																																				0.478	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2		NM_001005184		26	144	0	0	0	0.0918	0	26	144		
FASLG	356	broad.mit.edu	37	1	172628518	172628518	+	Silent	SNP	G	G	A	rs559795993	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:172628518G>A	ENST00000367721.2	+	1	361	c.177G>A	c.(175-177)ccG>ccA	p.P59P	FASLG_ENST00000340030.3_Silent_p.P59P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	59	Poly-Pro.|Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						ctccgccgccgccgccaccac	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		11837	0.0		0.001	False		,,,				2504	0.001				Ovarian(28;486 876 30334 44033)	uc001gis.2		NaN																	0				lung(2)|breast(1)	3						c.(175-177)CCG>CCA		fas ligand							70.0	66.0	68.0					1																	172628518		2203	4300	6503	SO:0001819	synonymous_variant	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172628518G>A	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.177G>A	1.37:g.172628518G>A						FASLG_uc001git.2_Silent_p.P59P	p.P59P	NM_000639	NP_000630	P48023	TNFL6_HUMAN			1	334	+			59			Pro-rich.|Poly-Pro.|Cytoplasmic (Potential).		Q9BZP9	Silent	SNP	ENST00000367721.2	37	c.177G>A	CCDS1304.1																																																																																				0.617	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1				25	13	0	0	0	0.099896	0	25	13		
ELF3	1999	broad.mit.edu	37	1	201982087	201982087	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201982087C>G	ENST00000359651.3	+	5	3803	c.611C>G	c.(610-612)tCt>tGt	p.S204C	RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.S204C|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.S204C					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTGGTGCTTCTCGGAGCTCC	0.647																																						uc001gxg.3		NaN																	0					0						c.(610-612)TCT>TGT		E74-like factor 3 (ets domain transcription							37.0	38.0	38.0					1																	201982087		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201982087C>G	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.611C>G	1.37:g.201982087C>G	ENSP00000352673:p.Ser204Cys					ELF3_uc001gxi.3_Missense_Mutation_p.S204C|ELF3_uc001gxh.3_Missense_Mutation_p.S204C	p.S204C	NM_004433	NP_004424	P78545	ELF3_HUMAN			5	3803	+			204						Missense_Mutation	SNP	ENST00000359651.3	37	c.611C>G	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452283	0.63290	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.56611	2.33;2.33;2.33;0.45	5.13	5.13	0.70059	.	0.975521	0.08415	N	0.949263	T	0.64136	0.2571	M	0.65975	2.015	0.09310	N	1	P	0.51791	0.948	P	0.48901	0.594	T	0.59434	-0.7455	10	0.54805	T	0.06	.	16.7538	0.85494	0.0:1.0:0.0:0.0	.	204	P78545	ELF3_HUMAN	C	204;204;204;181;202	ENSP00000352673:S204C;ENSP00000356253:S204C;ENSP00000356252:S204C;ENSP00000405162:S202C	ENSP00000311348:S181C	S	+	2	0	ELF3	200248710	0.346000	0.24844	0.015000	0.15790	0.148000	0.21650	3.482000	0.53186	2.392000	0.81423	0.561000	0.74099	TCT		0.647	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		11	40	0	0	0	0.069234	0	11	40		
ELF3	1999	broad.mit.edu	37	1	201982405	201982405	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201982405G>C	ENST00000359651.3	+	6	3976	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.E262Q|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.E262Q					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.E262*(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGACTGTCTCGAGGGCAAGAA	0.632																																						uc001gxg.3		NaN																	1	Substitution - Nonsense(1)		large_intestine(1)		0						c.(784-786)GAG>CAG		E74-like factor 3 (ets domain transcription							71.0	77.0	75.0					1																	201982405		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201982405G>C	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.784G>C	1.37:g.201982405G>C	ENSP00000352673:p.Glu262Gln					ELF3_uc001gxi.3_Missense_Mutation_p.E262Q|ELF3_uc001gxh.3_Missense_Mutation_p.E262Q	p.E262Q	NM_004433	NP_004424	P78545	ELF3_HUMAN			6	3976	+			262						Missense_Mutation	SNP	ENST00000359651.3	37	c.784G>C	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437591	0.62955	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	T;T;T	0.13538	2.58;2.58;2.58	5.6	5.6	0.85130	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.419500	0.03867	N	0.275079	T	0.24967	0.0606	M	0.67953	2.075	0.43355	D	0.995426	B	0.21688	0.059	B	0.23419	0.046	T	0.36768	-0.9734	10	0.24483	T	0.36	.	17.4077	0.87477	0.0:0.0:1.0:0.0	.	262	P78545	ELF3_HUMAN	Q	262;262;262;239	ENSP00000352673:E262Q;ENSP00000356253:E262Q;ENSP00000356252:E262Q	ENSP00000311348:E239Q	E	+	1	0	ELF3	200249028	0.468000	0.25839	0.994000	0.49952	0.974000	0.67602	1.618000	0.36954	2.633000	0.89246	0.561000	0.74099	GAG		0.632	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		25	85	0	0	0	0.083992	0	25	85		
KLHL12	59349	broad.mit.edu	37	1	202880190	202880190	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:202880190C>G	ENST00000367261.3	-	5	927	c.709G>C	c.(709-711)Gat>Cat	p.D237H	KLHL12_ENST00000367259.1_5'Flank|KLHL12_ENST00000435533.3_Missense_Mutation_p.D275H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	237					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCTCAGCATCTATTACATCT	0.438																																						uc001gyo.1		NaN																	0					0						c.(709-711)GAT>CAT		kelch-like 12							140.0	136.0	137.0					1																	202880190		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202880190C>G	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.709G>C	1.37:g.202880190C>G	ENSP00000356230:p.Asp237His					KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Missense_Mutation_p.D87H|KLHL12_uc010pqc.1_Missense_Mutation_p.D275H|KLHL12_uc009xah.1_Missense_Mutation_p.D237H	p.D237H	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		5	909	-			237					A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.709G>C	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013600	0.93404	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.67698	-0.28;-0.28;-0.24	5.56	5.56	0.83823	BTB/Kelch-associated (1);	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	M	0.67700	2.07	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.95;0.998;0.998	T	0.79386	-0.1825	10	0.42905	T	0.14	.	19.8805	0.96895	0.0:1.0:0.0:0.0	.	275;275;237	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	H	237;275;275	ENSP00000356230:D237H;ENSP00000416886:D275H;ENSP00000356227:D275H	ENSP00000356227:D275H	D	-	1	0	KLHL12	201146813	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	7.487000	0.81328	2.778000	0.95560	0.655000	0.94253	GAT		0.438	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1		NM_021633		86	122	0	0	0	0.139131	0	86	122		
KLHL12	59349	broad.mit.edu	37	1	202880307	202880307	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:202880307C>G	ENST00000367261.3	-	5	810	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	KLHL12_ENST00000367259.1_5'Flank|KLHL12_ENST00000435533.3_Missense_Mutation_p.E236Q	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	198	BACK.			FE -> LG (in Ref. 3; BAD96792). {ECO:0000305}.	COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGACAGCCTCAAAGACTGGC	0.473																																						uc001gyo.1		NaN																	0					0						c.(592-594)GAG>CAG		kelch-like 12							164.0	153.0	157.0					1																	202880307		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202880307C>G	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.592G>C	1.37:g.202880307C>G	ENSP00000356230:p.Glu198Gln					KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Missense_Mutation_p.E48Q|KLHL12_uc010pqc.1_Missense_Mutation_p.E236Q|KLHL12_uc009xah.1_Missense_Mutation_p.E198Q	p.E198Q	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		5	792	-			198	FE -> LG (in Ref. 3; BAD96792).				A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.592G>C	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160576	0.94727	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.70045	-0.45;-0.45;-0.45	5.56	5.56	0.83823	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	M	0.63428	1.95	0.80722	D	1	P;D;D	0.62365	0.89;0.991;0.991	P;D;D	0.76575	0.758;0.982;0.988	T	0.81120	-0.1077	10	0.62326	D	0.03	.	19.8805	0.96895	0.0:1.0:0.0:0.0	.	236;236;198	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	Q	198;236;236	ENSP00000356230:E198Q;ENSP00000416886:E236Q;ENSP00000356227:E236Q	ENSP00000356227:E236Q	E	-	1	0	KLHL12	201146930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.778000	0.95560	0.655000	0.94253	GAG		0.473	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1		NM_021633		87	132	0	0	0	0.139131	0	87	132		
PIK3C2B	5287	broad.mit.edu	37	1	204401357	204401357	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:204401357C>A	ENST00000367187.3	-	28	4682	c.4126G>T	c.(4126-4128)Gag>Tag	p.E1376*	PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.E1348*|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1376	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AAGATCTTCTCATGGCGGCAG	0.537											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001haw.2		NaN																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(4126-4128)GAG>TAG		phosphoinositide-3-kinase, class 2 beta							132.0	130.0	131.0					1																	204401357		2203	4300	6503	SO:0001587	stop_gained	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204401357C>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4126G>T	1.37:g.204401357C>A	ENSP00000356155:p.Glu1376*		OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2144	PIK3C2B_uc010pqv.1_Nonsense_Mutation_p.E1348*	p.E1376*	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		28	4605	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1376			PX.		O95666|Q5SW99	Nonsense_Mutation	SNP	ENST00000367187.3	37	c.4126G>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	48	14.153879	0.99782	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	6.08	6.08	0.98989	.	0.127509	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	15.7136	0.77649	0.0:0.8638:0.1361:0.0	.	.	.	.	X	1376;1348	.	ENSP00000356155:E1376X	E	-	1	0	PIK3C2B	202667980	0.997000	0.39634	0.992000	0.48379	0.642000	0.38348	3.174000	0.50847	2.894000	0.99253	0.655000	0.94253	GAG		0.537	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1		NM_002646		103	124	1	0	3.46703e-50	0.139131	4.17363e-50	103	124		
NFASC	23114	broad.mit.edu	37	1	204956661	204956661	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:204956661T>C	ENST00000401399.1	+	21	2785	c.2586T>C	c.(2584-2586)taT>taC	p.Y862Y	NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Silent_p.Y965Y|NFASC_ENST00000338586.6_Silent_p.Y969Y|NFASC_ENST00000404076.1_Silent_p.Y948Y|NFASC_ENST00000367171.4_Silent_p.Y954Y|NFASC_ENST00000367172.4_Silent_p.Y969Y|NFASC_ENST00000367170.4_Silent_p.Y969Y|NFASC_ENST00000360049.4_Silent_p.Y965Y|NFASC_ENST00000539706.1_Silent_p.Y965Y|NFASC_ENST00000338515.6_Silent_p.Y969Y|NFASC_ENST00000513543.1_Silent_p.Y965Y|NFASC_ENST00000339876.6_Silent_p.Y862Y|NFASC_ENST00000367169.4_Silent_p.Y862Y			O94856	NFASC_HUMAN	neurofascin	865	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCTCAAATATGTGGCCTGTA	0.488																																						uc001hbj.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2584-2586)TAT>TAC		neurofascin isoform 1 precursor							188.0	159.0	169.0					1																	204956661		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204956661T>C	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2586T>C	1.37:g.204956661T>C						NFASC_uc010pra.1_Silent_p.Y965Y|NFASC_uc001hbi.2_Silent_p.Y965Y|NFASC_uc010prb.1_Silent_p.Y980Y|NFASC_uc010prc.1_Silent_p.Y536Y|NFASC_uc001hbk.1_Silent_p.Y775Y|NFASC_uc001hbl.1_Silent_p.Y112Y|NFASC_uc001hbm.1_Silent_p.Y8Y|NFASC_uc001hbn.1_Silent_p.Y8Y	p.Y862Y	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		22	2914	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		865			Extracellular (Potential).|Fibronectin type-III 3.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.2586T>C	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	0.038	-1.298703	0.01364	.	.	ENSG00000163531	ENST00000367173;ENST00000425360	.	.	.	5.23	-0.308	0.12773	.	.	.	.	.	T	0.57066	0.2028	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50734	-0.8793	4	.	.	.	.	9.8746	0.41195	0.0:0.527:0.0:0.473	.	.	.	.	T	832;94	.	.	M	+	2	0	NFASC	203223284	0.219000	0.23619	0.134000	0.22075	0.003000	0.03518	-0.190000	0.09615	-0.191000	0.10448	-0.982000	0.02568	ATG		0.488	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1		NM_001005388		19	138	0	0	0	0.069288	0	19	138		
DISP1	84976	broad.mit.edu	37	1	223175804	223175804	+	Silent	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:223175804A>G	ENST00000284476.6	+	8	1229	c.1065A>G	c.(1063-1065)ggA>ggG	p.G355G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	355					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGACACTGGGAAACTACATCG	0.502											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hnu.1		NaN																	0					0						c.(1063-1065)GGA>GGG		dispatched A							106.0	105.0	105.0					1																	223175804		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223175804A>G	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1065A>G	1.37:g.223175804A>G			OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2287		p.G355G	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1212	+			355					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.1065A>G	CCDS1536.1																																																																																				0.502	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1		NM_032890		7	174	0	0	0	0.038147	0	7	174		
CELF2	10659	broad.mit.edu	37	10	11207533	11207533	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:11207533G>A	ENST00000379261.4	+	2	230	c.138G>A	c.(136-138)caG>caA	p.Q46Q	CELF2_ENST00000416382.2_Silent_p.Q46Q|CELF2_ENST00000315874.4_Silent_p.Q22Q|CELF2_ENST00000399850.3_Silent_p.Q22Q|CELF2_ENST00000537122.1_5'UTR|CELF2_ENST00000608830.1_Silent_p.Q22Q|CELF2_ENST00000542579.1_Silent_p.Q53Q|CELF2_ENST00000609692.1_Silent_p.Q22Q|CELF2_ENST00000427450.1_Silent_p.Q22Q|CELF2_ENST00000450189.1_Silent_p.Q53Q|CELF2_ENST00000354440.2_Silent_p.Q22Q|CELF2_ENST00000417956.2_Silent_p.Q22Q|CELF2_ENST00000354897.3_Silent_p.Q22Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	46	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TTGTCGGACAGATCCCCCGGT	0.522																																						uc001iki.3		NaN																	0					0						c.(136-138)CAG>CAA		CUG triplet repeat, RNA binding protein 2							104.0	110.0	108.0					10																	11207533		1953	4158	6111	SO:0001819	synonymous_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11207533G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.138G>A	10.37:g.11207533G>A						CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Silent_p.Q46Q|CELF2_uc001ikk.2_Silent_p.Q53Q|CELF2_uc001ikl.3_Silent_p.Q53Q|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Silent_p.Q22Q|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.3_Silent_p.Q22Q|CELF2_uc001ikp.3_Silent_p.Q22Q|CELF2_uc010qbn.1_Silent_p.Q30Q|CELF2_uc009xiw.1_Silent_p.Q22Q|CELF2_uc010qbo.1_5'UTR|CELF2_uc010qbp.1_5'UTR	p.Q46Q	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			2	230	+			46			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	ENST00000379261.4	37	c.138G>A	CCDS44354.1																																																																																				0.522	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding					27	91	0	0	0	0.099896	0	27	91		
PDSS1	23590	broad.mit.edu	37	10	26998684	26998684	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:26998684C>T	ENST00000376215.5	+	5	507	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	PDSS1_ENST00000376203.5_Missense_Mutation_p.H152Y	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	152					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CAATATTCATCATAACAACTC	0.393																																						uc001isv.2		NaN																	0					0						c.(454-456)CAT>TAT		prenyl diphosphate synthase, subunit 1							128.0	132.0	131.0					10																	26998684		2203	4300	6503	SO:0001583	missense	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:26998684C>T	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.454C>T	10.37:g.26998684C>T	ENSP00000365388:p.His152Tyr					PDSS1_uc001isw.2_Missense_Mutation_p.H152Y	p.H152Y	NM_014317	NP_055132	Q5T2R2	DPS1_HUMAN			5	500	+			152					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	c.454C>T	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	C	5.510	0.278982	0.10458	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	T;T	0.62639	0.01;0.01	5.26	4.3	0.51218	Terpenoid synthase (2);	0.138705	0.64402	N	0.000003	T	0.28732	0.0712	N	0.01751	-0.74	0.36184	D	0.849612	B;B	0.10296	0.003;0.001	B;B	0.15052	0.012;0.008	T	0.33954	-0.9848	10	0.02654	T	1	-11.9011	9.2854	0.37753	0.0:0.8202:0.0:0.1798	.	152;152	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	Y	152;152;113	ENSP00000365388:H152Y;ENSP00000365376:H152Y	ENSP00000365376:H152Y	H	+	1	0	PDSS1	27038690	1.000000	0.71417	0.569000	0.28460	0.974000	0.67602	1.347000	0.33975	1.217000	0.43442	0.650000	0.86243	CAT		0.393	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1				27	112	0	0	0	0.134883	0	27	112		
ANKRD30A	91074	broad.mit.edu	37	10	37506789	37506789	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:37506789G>C	ENST00000602533.1	+	33	3181	c.3082G>C	c.(3082-3084)Gaa>Caa	p.E1028Q	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1028Q|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1147Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1084					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGAGTGTAGAAAGTAATTT	0.284																																						uc001iza.1		NaN																	0				ovary(7)|breast(1)|skin(1)	9						c.(3082-3084)GAA>CAA		ankyrin repeat domain 30A							57.0	55.0	56.0					10																	37506789		1800	4061	5861	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37506789G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3082G>C	10.37:g.37506789G>C	ENSP00000473551:p.Glu1028Gln						p.E1028Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			33	3181	+			1084			Potential.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3082G>C		.	.	.	.	.	.	.	.	.	.	g	1.354	-0.590725	0.03799	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.17370	2.28;2.28	2.78	0.175	0.15045	.	.	.	.	.	T	0.05456	0.0144	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.38607	-0.9653	9	0.25106	T	0.35	.	0.521	0.00612	0.4417:0.2151:0.1332:0.21	.	1084	Q9BXX3	AN30A_HUMAN	Q	1028;1147	ENSP00000354432:E1028Q;ENSP00000363792:E1147Q	ENSP00000354432:E1028Q	E	+	1	0	ANKRD30A	37546795	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	2.553000	0.45837	-0.204000	0.10235	-0.605000	0.04089	GAA		0.284	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		8	30	0	0	0	0.047766	0	8	30		
OGDHL	55753	broad.mit.edu	37	10	50947854	50947854	+	Silent	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:50947854G>T	ENST00000374103.4	-	17	2257	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	OGDHL_ENST00000432695.1_Silent_p.P515P|OGDHL_ENST00000490844.1_5'Flank|OGDHL_ENST00000419399.1_Silent_p.P667P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	724					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCAGGGCATTGGGGCTGGCCA	0.572																																						uc001jie.2		NaN																	0				pancreas(1)	1						c.(2170-2172)CCC>CCA		oxoglutarate dehydrogenase-like isoform a							67.0	61.0	63.0					10																	50947854		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50947854G>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2172C>A	10.37:g.50947854G>T						OGDHL_uc009xog.2_Silent_p.P751P|OGDHL_uc010qgt.1_Silent_p.P667P|OGDHL_uc010qgu.1_Silent_p.P515P	p.P724P	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			17	2314	-			724					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.2172C>A	CCDS7234.1																																																																																				0.572	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1		NM_018245		14	27	1	0	4.3838e-07	0.105934	5.05735e-07	14	27		
CTNNA3	29119	broad.mit.edu	37	10	69281696	69281696	+	Silent	SNP	G	G	C	rs74142830	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:69281696G>C	ENST00000433211.2	-	5	657	c.483C>G	c.(481-483)ctC>ctG	p.L161L	CTNNA3_ENST00000545309.1_Silent_p.L161L|CTNNA3_ENST00000373744.4_Silent_p.L161L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAACATTTTTGAGAGACTCAA	0.383																																						uc009xpn.1		NaN																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(481-483)CTC>CTG		catenin, alpha 3							94.0	92.0	93.0					10																	69281696		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:69281696G>C	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.483C>G	10.37:g.69281696G>C						CTNNA3_uc001jmw.2_Silent_p.L161L|CTNNA3_uc001jmx.3_Silent_p.L161L|CTNNA3_uc009xpo.1_Silent_p.L21L|CTNNA3_uc001jna.2_Silent_p.L173L	p.L161L	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			5	606	-			161						Silent	SNP	ENST00000433211.2	37	c.483C>G	CCDS7269.1																																																																																				0.383	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2		NM_013266		3	76	0	0	0	0.115264	0	3	76		
HK1	3098	broad.mit.edu	37	10	71144659	71144659	+	Silent	SNP	G	G	A	rs148999865		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:71144659G>A	ENST00000359426.6	+	12	1931	c.1827G>A	c.(1825-1827)acG>acA	p.T609T	HK1_ENST00000448642.2_Silent_p.T644T|HK1_ENST00000360289.2_Silent_p.T597T|HK1_ENST00000404387.2_Silent_p.T613T|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.T608T	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	609	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.T608T(1)|p.T613T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCCAGCAGACGAGTCTGGACG	0.587																																						uc001jpl.3		NaN																	2	Substitution - coding silent(2)		endometrium(2)	ovary(1)	1						c.(1825-1827)ACG>ACA		hexokinase 1 isoform HKI		G	,,,,	0,4406		0,0,2203	148.0	141.0	144.0		1827,1824,1839,1839,1791	-4.9	0.8	10	dbSNP_134	144	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HK1	NM_000188.2,NM_033496.2,NM_033497.2,NM_033498.2,NM_033500.2	,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,	609/918,608/917,613/922,613/922,597/906	71144659	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71144659G>A	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1827G>A	10.37:g.71144659G>A						HK1_uc001jpg.3_Silent_p.T597T|HK1_uc001jph.3_Silent_p.T613T|HK1_uc001jpi.3_Silent_p.T613T|HK1_uc001jpj.3_Silent_p.T644T|HK1_uc001jpk.3_Silent_p.T608T|HK1_uc009xqd.2_Silent_p.T487T	p.T609T	NM_000188	NP_000179	P19367	HXK1_HUMAN			12	1928	+			609			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	37	c.1827G>A	CCDS7292.1																																																																																				0.587	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2		NM_000188		9	173	0	0	0	0.047766	0	9	173		
DNAJB12	54788	broad.mit.edu	37	10	74100797	74100797	+	Missense_Mutation	SNP	C	C	T	rs147227290		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:74100797C>T	ENST00000444643.2	-	4	921	c.589G>A	c.(589-591)Gac>Aac	p.D197N	DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000394903.2_Missense_Mutation_p.D231N|DNAJB12_ENST00000338820.3_Missense_Mutation_p.D231N			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	197						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						GGGGAGATGTCGGCCTCAAAG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18994	0.001		0.0	False		,,,				2504	0.0					uc010qjv.1		NaN																	0					0						c.(691-693)GAC>AAC		DnaJ (Hsp40) homolog, subfamily B, member 12		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	61.0	55.0	57.0		691,691	5.7	1.0	10	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DNAJB12	NM_001002762.2,NM_017626.4	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	231/410,231/410	74100797	1,13005	2203	4300	6503	SO:0001583	missense	54788				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr10:74100797C>T	AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.589G>A	10.37:g.74100797C>T	ENSP00000403313:p.Asp197Asn					DNAJB12_uc001jsz.2_Missense_Mutation_p.D231N|DNAJB12_uc001jta.2_Missense_Mutation_p.D231N	p.D231N	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN			4	841	-			197					B7Z7I3|Q9H6H0	Missense_Mutation	SNP	ENST00000444643.2	37	c.691G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.806635	0.96967	0.0	1.16E-4	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.72942	-0.7;-0.7;-0.7	5.66	5.66	0.87406	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87063	0.6084	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88264	0.2925	10	0.66056	D	0.02	-18.5991	19.8154	0.96566	0.0:1.0:0.0:0.0	.	197;197	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	N	231;231;197	ENSP00000345575:D231N;ENSP00000378363:D231N;ENSP00000403313:D197N	ENSP00000345575:D231N	D	-	1	0	DNAJB12	73770803	1.000000	0.71417	0.968000	0.41197	0.962000	0.63368	7.818000	0.86416	2.683000	0.91414	0.650000	0.86243	GAC		0.607	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2				9	36	0	0	0	0.047766	0	9	36		
USP54	159195	broad.mit.edu	37	10	75301468	75301468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:75301468G>A	ENST00000339859.4	-	7	701	c.601C>T	c.(601-603)Cga>Tga	p.R201*	USP54_ENST00000428547.1_Intron|USP54_ENST00000408019.1_Nonsense_Mutation_p.R201*|USP54_ENST00000394811.2_De_novo_Start_OutOfFrame|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Nonsense_Mutation_p.R201*			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	201	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGTTTCTCTCGTCTTTCCAGC	0.453																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NaN																	0				breast(3)|lung(2)|kidney(1)	6						c.(601-603)CGA>TGA		ubiquitin specific peptidase 54							90.0	86.0	87.0					10																	75301468		1901	4125	6026	SO:0001587	stop_gained	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75301468G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.601C>T	10.37:g.75301468G>A	ENSP00000345216:p.Arg201*					USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Nonsense_Mutation_p.R201*|USP54_uc010qkl.1_Nonsense_Mutation_p.R201*|USP54_uc001juq.1_Translation_Start_Site	p.R201*	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			6	618	-	Prostate(51;0.0112)		201					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Nonsense_Mutation	SNP	ENST00000339859.4	37	c.601C>T	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	44	11.120158	0.99518	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000319786	.	.	.	5.55	2.52	0.30459	.	0.193889	0.32578	U	0.005918	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.792	14.3035	0.66371	0.0:0.0:0.4844:0.5156	.	.	.	.	X	201	.	.	R	-	1	2	USP54	74971474	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.025000	0.41059	0.320000	0.23234	-0.169000	0.13324	CGA		0.453	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2		NM_152586		16	53	0	0	0	0.0333	0	16	53		
COMTD1	118881	broad.mit.edu	37	10	76993969	76993969	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:76993969C>T	ENST00000372538.3	-	7	733	c.651G>A	c.(649-651)ggG>ggA	p.G217G	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	217						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	O-methyltransferase activity (GO:0008171)			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GCAGCACCTTCCCGCGCCACA	0.706																																					Colon(106;1192 2596 47278)	uc001jxb.2		NaN																	0					0						c.(649-651)GGG>GGA		catechol-O-methyltransferase domain containing							40.0	37.0	38.0					10																	76993969		2203	4300	6503	SO:0001819	synonymous_variant	118881					integral to membrane	O-methyltransferase activity	g.chr10:76993969C>T		CCDS7349.1	10q22.2	2013-09-20			ENSG00000165644	ENSG00000165644			26309	protein-coding gene	gene with protein product						12975309	Standard	NM_144589		Approved	FLJ23841	uc001jxb.3	Q86VU5	OTTHUMG00000018518	ENST00000372538.3:c.651G>A	10.37:g.76993969C>T						COMTD1_uc001jxc.1_Missense_Mutation_p.E309K	p.G217G	NM_144589	NP_653190	Q86VU5	CMTD1_HUMAN			7	735	-	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		217					Q8TE79	Silent	SNP	ENST00000372538.3	37	c.651G>A	CCDS7349.1	.	.	.	.	.	.	.	.	.	.	C	8.512	0.866676	0.17250	.	.	ENSG00000165644	ENST00000536650	.	.	.	4.96	-3.09	0.05331	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53570	-0.8420	5	0.72032	D	0.01	-10.1584	1.4073	0.02283	0.1399:0.2865:0.143:0.4305	.	.	.	.	K	206	.	ENSP00000444168:E206K	E	-	1	0	COMTD1	76663975	0.001000	0.12720	0.812000	0.32479	0.471000	0.32888	-0.620000	0.05565	-0.355000	0.08199	-0.459000	0.05422	GAA		0.706	COMTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048802.1		NM_144589		5	46	0	0	0	0.021553	0	5	46		
PLCE1	51196	broad.mit.edu	37	10	96018855	96018855	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:96018855C>G	ENST00000371380.3	+	12	3997	c.3762C>G	c.(3760-3762)ctC>ctG	p.L1254L	PLCE1_ENST00000371375.1_Silent_p.L946L|PLCE1_ENST00000260766.3_Silent_p.L1254L|PLCE1_ENST00000371385.3_Silent_p.L946L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1254					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAGCCCCACTCTACACCAACC	0.478																																						uc001kjk.2		NaN																	0				ovary(2)|skin(1)	3						c.(3760-3762)CTC>CTG		phospholipase C, epsilon 1 isoform 1							169.0	168.0	168.0					10																	96018855		2022	4187	6209	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96018855C>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3762C>G	10.37:g.96018855C>G						PLCE1_uc010qnx.1_Silent_p.L1238L|PLCE1_uc001kjm.2_Silent_p.L946L	p.L1254L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			13	4396	+		Colorectal(252;0.0458)	1254					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.3762C>G	CCDS41552.1																																																																																				0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3		NM_016341		36	132	0	0	0	0.09836	0	36	132		
DNTT	1791	broad.mit.edu	37	10	98064410	98064410	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:98064410C>T	ENST00000371174.2	+	1	258	c.156C>T	c.(154-156)ctC>ctT	p.L52L	DNTT_ENST00000419175.1_Silent_p.L52L|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	52	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAGCGTTCCTCATGGAGCTGG	0.493																																						uc001kmf.2		NaN																	0				ovary(1)	1						c.(154-156)CTC>CTT		terminal deoxynucleotidyltransferase isoform 1							39.0	46.0	43.0					10																	98064410		2203	4300	6503	SO:0001819	synonymous_variant	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98064410C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.156C>T	10.37:g.98064410C>T						DNTT_uc001kmg.2_Silent_p.L52L	p.L52L	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	1	326	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	52			BRCT.		Q53FH1|Q5W103|Q96E50	Silent	SNP	ENST00000371174.2	37	c.156C>T	CCDS7447.1																																																																																				0.493	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1		NM_004088		8	35	0	0	0	0.047766	0	8	35		
SEMA4G	57715	broad.mit.edu	37	10	102738085	102738085	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:102738085G>C	ENST00000370250.4	+	5	842	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	SEMA4G_ENST00000519756.1_3'UTR|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Missense_Mutation_p.E157Q|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E157Q|MRPL43_ENST00000318325.2_3'UTR	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	157	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AACCAGCTTCGAGGAGGGGAA	0.532																																						uc010qpt.1		NaN																	0				breast(1)	1						c.(469-471)GAG>CAG		semaphorin 4G							85.0	67.0	73.0					10																	102738085		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102738085G>C	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.469G>C	10.37:g.102738085G>C	ENSP00000359270:p.Glu157Gln					SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.E157Q|SEMA4G_uc001krx.2_Missense_Mutation_p.E157Q|MRPL43_uc001kry.1_3'UTR|MRPL43_uc010qpu.1_3'UTR	p.E157Q	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	6	912	+		Colorectal(252;0.234)	157			Extracellular (Potential).|Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.469G>C		.	.	.	.	.	.	.	.	.	.	G	28.7	4.939985	0.92526	.	.	ENSG00000095539	ENST00000519649;ENST00000518124;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	M	0.89534	3.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.91635	0.997;0.999;0.952	T	0.55879	-0.8071	10	0.72032	D	0.01	.	18.7017	0.91623	0.0:0.0:1.0:0.0	.	157;157;157	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	Q	157	ENSP00000428896:E157Q;ENSP00000430103:E157Q;ENSP00000359270:E157Q;ENSP00000430175:E157Q;ENSP00000210633:E157Q	ENSP00000210633:E157Q	E	+	1	0	SEMA4G	102728075	1.000000	0.71417	0.960000	0.40013	0.943000	0.58893	9.041000	0.93788	2.668000	0.90789	0.478000	0.44815	GAG		0.532	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2				6	20	0	0	0	0.021553	0	6	20		
PDCD4	27250	broad.mit.edu	37	10	112641289	112641289	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:112641289G>C	ENST00000280154.7	+	3	616	c.342G>C	c.(340-342)aaG>aaC	p.K114N	PDCD4_ENST00000393104.2_Missense_Mutation_p.K103N	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	114					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GACTACCAAAGAAAGGTTGGT	0.433																																					Ovarian(115;1498 1603 9363 40056 40885)	uc001kzh.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(340-342)AAG>AAC		programmed cell death 4 isoform 1							42.0	48.0	46.0					10																	112641289		2203	4299	6502	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112641289G>C	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.342G>C	10.37:g.112641289G>C	ENSP00000280154:p.Lys114Asn					PDCD4_uc001kzg.2_Missense_Mutation_p.K103N|PDCD4_uc010qre.1_Missense_Mutation_p.K100N	p.K114N	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	3	585	+		Breast(234;0.0848)|Lung NSC(174;0.238)	114					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.342G>C	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763796	0.69878	.	.	ENSG00000150593	ENST00000280154;ENST00000393104;ENST00000444997	T;T;T	0.52526	0.7;0.72;0.66	5.72	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.986;0.997;0.994	T	0.73442	-0.3981	10	0.87932	D	0	-17.4243	10.9014	0.47054	0.1431:0.0:0.8569:0.0	.	100;114;103	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	N	114;103;100	ENSP00000280154:K114N;ENSP00000376816:K103N;ENSP00000394668:K100N	ENSP00000280154:K114N	K	+	3	2	PDCD4	112631279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.813000	0.55636	1.541000	0.49316	0.650000	0.86243	AAG		0.433	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1		NM_014456		19	91	0	0	0	0.049695	0	19	91		
MKI67	4288	broad.mit.edu	37	10	129904961	129904961	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:129904961C>T	ENST00000368654.3	-	13	5518	c.5143G>A	c.(5143-5145)Gag>Aag	p.E1715K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1355K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1715	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGAAGAGCTCGATGAAGCCG	0.498																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5143-5145)GAG>AAG		antigen identified by monoclonal antibody Ki-67							111.0	100.0	103.0					10																	129904961		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904961C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5143G>A	10.37:g.129904961C>T	ENSP00000357643:p.Glu1715Lys					MKI67_uc001lkf.2_Missense_Mutation_p.E1355K|MKI67_uc009yav.1_Missense_Mutation_p.E1290K|MKI67_uc009yaw.1_Missense_Mutation_p.E865K	p.E1715K	NM_002417	NP_002408	P46013	KI67_HUMAN			13	5338	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1715			6.|16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5143G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425525	0.62733	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.06142	3.34;3.34	2.98	1.06	0.20224	.	0.258728	0.28821	N	0.014032	T	0.15565	0.0375	M	0.75777	2.31	0.09310	N	0.999999	P;D;D	0.89917	0.933;1.0;1.0	B;D;D	0.91635	0.342;0.999;0.999	T	0.14868	-1.0457	10	0.18276	T	0.48	.	3.8605	0.08994	0.0:0.4365:0.2944:0.269	.	1714;1355;1715	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	1715;1355;1714	ENSP00000357643:E1715K;ENSP00000357642:E1355K	ENSP00000357642:E1355K	E	-	1	0	MKI67	129794951	0.000000	0.05858	0.145000	0.22337	0.249000	0.25844	0.525000	0.22956	0.575000	0.29434	0.462000	0.41574	GAG		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		15	58	0	0	0	0.0333	0	15	58		
MKI67	4288	broad.mit.edu	37	10	129904991	129904991	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:129904991C>T	ENST00000368654.3	-	13	5488	c.5113G>A	c.(5113-5115)Gaa>Aaa	p.E1705K	MKI67_ENST00000368653.3_Missense_Mutation_p.E1345K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1705	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCAGGGACTTCAGACTTTCCC	0.468																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5113-5115)GAA>AAA		antigen identified by monoclonal antibody Ki-67							101.0	89.0	93.0					10																	129904991		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904991C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5113G>A	10.37:g.129904991C>T	ENSP00000357643:p.Glu1705Lys					MKI67_uc001lkf.2_Missense_Mutation_p.E1345K|MKI67_uc009yav.1_Missense_Mutation_p.E1280K|MKI67_uc009yaw.1_Missense_Mutation_p.E855K	p.E1705K	NM_002417	NP_002408	P46013	KI67_HUMAN			13	5308	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1705			6.|16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5113G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315136	0.23908	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02067	4.47;4.47	3.61	1.54	0.23209	.	1.323940	0.05209	N	0.506413	T	0.03827	0.0108	L	0.29908	0.895	0.09310	N	1	B;P;P	0.48162	0.4;0.905;0.906	B;P;P	0.49922	0.168;0.578;0.626	T	0.45041	-0.9288	10	0.07175	T	0.84	.	12.9355	0.58311	0.0:0.7352:0.2648:0.0	.	1704;1345;1705	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	1705;1345;1704	ENSP00000357643:E1705K;ENSP00000357642:E1345K	ENSP00000357642:E1345K	E	-	1	0	MKI67	129794981	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.287000	0.18920	0.129000	0.18514	-0.502000	0.04539	GAA		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		14	64	0	0	0	0.11911	0	14	64		
CFAP46	54777	broad.mit.edu	37	10	134752189	134752189	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:134752189C>G	ENST00000368586.5	-	5	540	c.440G>C	c.(439-441)gGa>gCa	p.G147A	TTC40_ENST00000368585.3_Missense_Mutation_p.G147A|TTC40_ENST00000368582.2_Missense_Mutation_p.G147A	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTGACGATATCCAGGCTTGAG	0.537																																						uc001llt.1		NaN																	0				pancreas(1)	1						c.(439-441)GGA>GCA		hypothetical protein LOC255352							187.0	155.0	166.0					10																	134752189		2203	4300	6503	SO:0001583	missense	255352						binding	g.chr10:134752189C>G																												ENST00000368586.5:c.440G>C	10.37:g.134752189C>G	ENSP00000357575:p.Gly147Ala					C10orf93_uc001llu.2_Missense_Mutation_p.G147A	p.G147A	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)	5	516	-		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)	147						Missense_Mutation	SNP	ENST00000368586.5	37	c.440G>C	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	c	13.84	2.358019	0.41801	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.82803	-1.65;-1.65;-1.65	4.16	4.16	0.48862	.	0.511294	0.16284	U	0.221221	D	0.90783	0.7106	M	0.78801	2.425	0.34566	D	0.712955	D;D	0.89917	0.999;1.0	D;D	0.76575	0.975;0.988	D	0.94024	0.7295	10	0.66056	D	0.02	.	15.6077	0.76685	0.0:1.0:0.0:0.0	.	147;147	Q5SR76-2;Q5SR76-1	.;.	A	147	ENSP00000357575:G147A;ENSP00000357571:G147A;ENSP00000357574:G147A	ENSP00000357571:G147A	G	-	2	0	C10orf93	134602179	0.841000	0.29509	0.023000	0.16930	0.018000	0.09664	3.433000	0.52834	2.015000	0.59207	0.558000	0.71614	GGA		0.537	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3				18	100	0	0	0	0.043863	0	18	100		
TRIM5	85363	broad.mit.edu	37	11	5687293	5687293	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:5687293C>G	ENST00000380034.3	-	6	1042	c.786G>C	c.(784-786)ttG>ttC	p.L262F	TRIM5_ENST00000305836.5_Missense_Mutation_p.L262F|TRIM5_ENST00000396847.3_Missense_Mutation_p.L262F|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Missense_Mutation_p.L263F|TRIM5_ENST00000380027.1_Missense_Mutation_p.L262F|TRIM5_ENST00000396855.3_Missense_Mutation_p.L262F	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	262					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTGGCTTCTTCAAGGTCACGT	0.398																																						uc001mbm.1		NaN																	0				ovary(1)	1						c.(784-786)TTG>TTC		tripartite motif protein TRIM5 isoform alpha							99.0	99.0	99.0					11																	5687293		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5687293C>G	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.786G>C	11.37:g.5687293C>G	ENSP00000369373:p.Leu262Phe					TRIM78P_uc009yer.2_RNA|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.L262F|TRIM5_uc001mbo.2_Missense_Mutation_p.L262F|TRIM5_uc001mbp.2_Missense_Mutation_p.L262F	p.L262F	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	6	1043	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	262					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.786G>C	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083403	0.36758	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853	T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26	3.81	2.86	0.33363	.	0.386833	0.18989	N	0.125648	T	0.32675	0.0837	M	0.92317	3.295	0.09310	N	1	D;D;D	0.76494	0.999;0.964;0.998	D;P;D	0.74674	0.984;0.754;0.974	T	0.10337	-1.0634	10	0.87932	D	0	.	8.5171	0.33253	0.231:0.7689:0.0:0.0	.	262;262;262	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	F	262;262;262;262;262;263	ENSP00000380064:L262F;ENSP00000307031:L262F;ENSP00000369373:L262F;ENSP00000369366:L262F;ENSP00000380058:L262F;ENSP00000380062:L263F	ENSP00000307031:L262F	L	-	3	2	TRIM5	5643869	0.000000	0.05858	0.026000	0.17262	0.022000	0.10575	0.289000	0.18957	1.154000	0.42482	0.655000	0.94253	TTG		0.398	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3		NM_033034		15	41	0	0	0	0.132662	0	15	41		
CCKBR	887	broad.mit.edu	37	11	6292495	6292495	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:6292495C>T	ENST00000334619.2	+	5	1259	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	CCKBR_ENST00000532715.1_Missense_Mutation_p.R272C|CCKBR_ENST00000525462.1_Missense_Mutation_p.R425C	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	356					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CAACACGTGGCGCGCCTTTGA	0.567																																						uc001mcp.2		NaN																	0				lung(5)|ovary(2)|breast(1)	8						c.(1066-1068)CGC>TGC		cholecystokinin B receptor	Pentagastrin(DB00183)						160.0	127.0	138.0					11																	6292495		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292495C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.1066C>T	11.37:g.6292495C>T	ENSP00000335544:p.Arg356Cys					CCKBR_uc001mcq.2_Missense_Mutation_p.R284C|CCKBR_uc001mcr.2_Missense_Mutation_p.R356C|CCKBR_uc001mcs.2_Missense_Mutation_p.R425C|CCKBR_uc001mct.1_RNA	p.R356C	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	5	1259	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	356			Extracellular (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.1066C>T	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440359	0.43326	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.72942	-0.7;-0.7;-0.7	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.087235	0.53938	D	0.000052	T	0.79936	0.4532	M	0.92459	3.31	0.53005	D	0.999967	P;B;B	0.40000	0.698;0.025;0.031	B;B;B	0.43508	0.422;0.012;0.035	D	0.84132	0.0412	10	0.66056	D	0.02	.	12.4971	0.55933	0.1671:0.8329:0.0:0.0	.	425;290;356	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	C	356;272;425	ENSP00000335544:R356C;ENSP00000432079:R272C;ENSP00000435534:R425C	ENSP00000335544:R356C	R	+	1	0	CCKBR	6249071	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.001000	0.49488	2.425000	0.82216	0.557000	0.71058	CGC		0.567	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2		NM_176875		16	58	0	0	0	0.146539	0	16	58		
MICAL2	9645	broad.mit.edu	37	11	12248632	12248632	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:12248632C>G	ENST00000256194.4	+	15	2237	c.1949C>G	c.(1948-1950)tCt>tGt	p.S650C	MICAL2_ENST00000379612.3_Missense_Mutation_p.S650C|MICAL2_ENST00000342902.5_Missense_Mutation_p.S650C|MICAL2_ENST00000527546.1_Missense_Mutation_p.S650C|MICAL2_ENST00000537344.1_Missense_Mutation_p.S650C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	650					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCATCCATTTCTAATAACTAT	0.448																																						uc001mjz.2		NaN																	0				upper_aerodigestive_tract(2)	2						c.(1948-1950)TCT>TGT		microtubule associated monoxygenase, calponin							121.0	110.0	114.0					11																	12248632		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12248632C>G	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1949C>G	11.37:g.12248632C>G	ENSP00000256194:p.Ser650Cys					MICAL2_uc010rch.1_Missense_Mutation_p.S650C|MICAL2_uc001mka.2_Missense_Mutation_p.S650C|MICAL2_uc010rci.1_Missense_Mutation_p.S650C|MICAL2_uc001mkb.2_Missense_Mutation_p.S650C|MICAL2_uc001mkc.2_Missense_Mutation_p.S650C|MICAL2_uc001mkd.2_Missense_Mutation_p.S479C|MICAL2_uc010rcj.1_Missense_Mutation_p.S52C	p.S650C	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	15	2237	+			650					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1949C>G	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545280	0.45280	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.62232	0.05;0.04;0.05;0.05;0.14	4.88	2.79	0.32731	.	1.074500	0.07126	N	0.844776	T	0.55465	0.1922	L	0.38175	1.15	0.19775	N	0.99995	P;P;P;P;P;B	0.51351	0.944;0.733;0.874;0.483;0.556;0.001	P;P;B;B;B;B	0.48227	0.571;0.498;0.412;0.264;0.174;0.002	T	0.50725	-0.8794	10	0.72032	D	0.01	.	2.0929	0.03660	0.3089:0.4407:0.0:0.2504	.	183;650;650;650;650;650	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	C	650;183;650;650;650;650	ENSP00000441689:S650C;ENSP00000256194:S650C;ENSP00000433965:S650C;ENSP00000344894:S650C;ENSP00000368932:S650C	ENSP00000256194:S650C	S	+	2	0	MICAL2	12205208	1.000000	0.71417	0.728000	0.30774	0.974000	0.67602	1.646000	0.37249	1.219000	0.43474	0.655000	0.94253	TCT		0.448	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1		NM_014632		5	27	0	0	0	0.047766	0	5	27		
KIAA1549L	25758	broad.mit.edu	37	11	33631370	33631370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:33631370G>T	ENST00000321505.4	+	14	4426	c.4246G>T	c.(4246-4248)Gga>Tga	p.G1416*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.G1422*			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1416						integral component of membrane (GO:0016021)											CAAGAGGAAGGGATATTACGA	0.517																																						uc001mup.3		NaN																	0				ovary(2)	2						c.(4264-4266)GGA>TGA		hypothetical protein LOC25758							56.0	61.0	59.0					11																	33631370		2029	4180	6209	SO:0001587	stop_gained	25758					integral to membrane		g.chr11:33631370G>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4246G>T	11.37:g.33631370G>T	ENSP00000315295:p.Gly1416*						p.G1422*	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			14	4388	+			1416					B0QYU0	Nonsense_Mutation	SNP	ENST00000321505.4	37	c.4264G>T	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.734201|10.734201	0.99459|0.99459	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80048	.|0.4552	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77797	.|-0.2453	.|3	0.87932|.	D|.	0|.	-13.6838|-13.6838	19.9664|19.9664	0.97271|0.97271	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	1416;1422;1255|813	.|.	ENSP00000315295:G1416X|.	G|R	+|+	1|3	0|2	C11orf41|C11orf41	33587946|33587946	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.778000|0.778000	0.44026|0.44026	9.230000|9.230000	0.95299|0.95299	2.718000|2.718000	0.92993|0.92993	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.517	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1		NM_012194		9	18	1	0	2.17888e-05	0.058154	2.49417e-05	9	18		
CHST1	8534	broad.mit.edu	37	11	45671793	45671793	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:45671793G>C	ENST00000308064.2	-	4	1351	c.681C>G	c.(679-681)ctC>ctG	p.L227L	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	227					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGATGACCTTGAGGTTTAATC	0.687																																						uc001mys.1		NaN																	0				skin(4)|pancreas(1)	5						c.(679-681)CTC>CTG		carbohydrate (keratan sulfate Gal-6)							39.0	40.0	40.0					11																	45671793		2203	4299	6502	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671793G>C	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.681C>G	11.37:g.45671793G>C							p.L227L	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1352	-			227			Lumenal (Potential).		D3DQP2	Silent	SNP	ENST00000308064.2	37	c.681C>G	CCDS7913.1																																																																																				0.687	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1		NM_003654		19	26	0	0	0	0.043863	0	19	26		
OR4X2	119764	broad.mit.edu	37	11	48267481	48267481	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:48267481C>T	ENST00000302329.3	+	1	874	c.826C>T	c.(826-828)Cct>Tct	p.P276S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GATCCTGAACCCTGTCATCTA	0.483																																						uc001ngs.1		NaN																	0					0						c.(826-828)CCT>TCT		olfactory receptor, family 4, subfamily X,							105.0	97.0	100.0					11																	48267481		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267481C>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.826C>T	11.37:g.48267481C>T	ENSP00000307751:p.Pro276Ser						p.P276S	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	826	+			276			Helical; Name=7; (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.826C>T	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844494	0.71488	.	.	ENSG00000172208	ENST00000302329	T	0.63417	-0.04	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000054	T	0.79890	0.4524	M	0.77406	2.37	0.37658	D	0.92265	D	0.89917	1.0	D	0.91635	0.999	D	0.84470	0.0599	10	0.87932	D	0	.	16.5927	0.84770	0.0:1.0:0.0:0.0	.	276	Q8NGF9	OR4X2_HUMAN	S	276	ENSP00000307751:P276S	ENSP00000307751:P276S	P	+	1	0	OR4X2	48224057	1.000000	0.71417	0.984000	0.44739	0.794000	0.44872	5.580000	0.67464	2.494000	0.84150	0.650000	0.86243	CCT		0.483	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2		NM_001004727		16	28	0	0	0	0.0333	0	16	28		
OR4S1	256148	broad.mit.edu	37	11	48328337	48328337	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:48328337C>T	ENST00000319988.1	+	1	563	c.563C>T	c.(562-564)gCa>gTa	p.A188V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TTGGCCTGTGCAGACACCTAC	0.463																																						uc010rhu.1		NaN																	0				ovary(1)	1						c.(562-564)GCA>GTA		olfactory receptor, family 4, subfamily S,							158.0	129.0	139.0					11																	48328337		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328337C>T	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.563C>T	11.37:g.48328337C>T	ENSP00000321447:p.Ala188Val						p.A188V	NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN			1	563	+			188			Extracellular (Potential).		Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.563C>T	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069546	0.36470	.	.	ENSG00000176555	ENST00000319988	T	0.00137	8.68	5.02	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.28344	0.845	0.09310	N	1	P	0.35307	0.494	B	0.32149	0.141	T	0.18681	-1.0329	9	0.72032	D	0.01	.	5.725	0.18008	0.0:0.6614:0.16:0.1786	.	188	Q8NGB4	OR4S1_HUMAN	V	188	ENSP00000321447:A188V	ENSP00000321447:A188V	A	+	2	0	OR4S1	48284913	0.000000	0.05858	0.392000	0.26245	0.991000	0.79684	0.199000	0.17237	0.624000	0.30286	0.655000	0.94253	GCA		0.463	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1		NM_001004725		32	23	0	0	0	0.045705	0	32	23		
SERPING1	710	broad.mit.edu	37	11	57379282	57379282	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:57379282C>T	ENST00000278407.4	+	7	1349	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	SERPING1_ENST00000403558.1_Silent_p.L417L|SERPING1_ENST00000378323.4_Silent_p.L379L|SERPING1_ENST00000378324.2_Silent_p.L322L|SERPING1_ENST00000340687.6_Intron	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	374				MEQALS -> TGTGSQ (in Ref. 19; AA sequence). {ECO:0000305}.	blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AACAGGCTCTCAGCCCTTCTG	0.522																																						uc001nkp.1		NaN																	0				central_nervous_system(1)	1						c.(1120-1122)CTC>CTT		serpin peptidase inhibitor, clade G, member 1							145.0	135.0	138.0					11																	57379282		2201	4296	6497	SO:0001819	synonymous_variant	710	Hereditary_Angioedema			blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57379282C>T	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1122C>T	11.37:g.57379282C>T						SERPING1_uc001nkq.1_Intron|SERPING1_uc010rju.1_Silent_p.L322L|SERPING1_uc010rjv.1_Silent_p.L379L|SERPING1_uc001nkr.1_Silent_p.L374L|SERPING1_uc009ymi.1_Silent_p.L383L|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Silent_p.L65L	p.L374L	NM_000062	NP_000053	P05155	IC1_HUMAN			7	1313	+			374	MEQALS -> TGTGSQ (in Ref. 19; AA sequence).				A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	ENST00000278407.4	37	c.1122C>T	CCDS7962.1																																																																																				0.522	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1		NM_000062		78	121	0	0	0	0.139131	0	78	121		
STIP1	10963	broad.mit.edu	37	11	63971071	63971071	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:63971071G>A	ENST00000305218.4	+	13	1683	c.1536G>A	c.(1534-1536)caG>caA	p.Q512Q	STIP1_ENST00000538945.1_Silent_p.Q488Q|STIP1_ENST00000358794.5_Silent_p.Q559Q	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	512	STI1 2.				response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AACAGATGCAGAAGGACCCCC	0.597																																						uc001nyk.1		NaN																	0				ovary(2)|liver(1)	3						c.(1534-1536)CAG>CAA		stress-induced-phosphoprotein 1							60.0	47.0	52.0					11																	63971071		2201	4297	6498	SO:0001819	synonymous_variant	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63971071G>A	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1536G>A	11.37:g.63971071G>A						STIP1_uc010rnb.1_Silent_p.Q488Q	p.Q512Q	NM_006819	NP_006810	P31948	STIP1_HUMAN			13	1683	+			512			STI1 2.		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Silent	SNP	ENST00000305218.4	37	c.1536G>A	CCDS8058.1																																																																																				0.597	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2		NM_006819		10	43	0	0	0	0.069234	0	10	43		
KAT5	10524	broad.mit.edu	37	11	65481068	65481068	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:65481068G>A	ENST00000377046.3	+	6	718	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	KAT5_ENST00000352980.4_Missense_Mutation_p.R97Q|KAT5_ENST00000341318.4_Missense_Mutation_p.R182Q|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.R130Q	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	149					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)	p.R182L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CTGCAGAAACGGAAGGTGGAG	0.547																																						uc001ofi.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(445-447)CGG>CAG		K(lysine) acetyltransferase 5 isoform 2							67.0	70.0	69.0					11																	65481068		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65481068G>A	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.446G>A	11.37:g.65481068G>A	ENSP00000366245:p.Arg149Gln					KAT5_uc001ofj.2_Missense_Mutation_p.R97Q|KAT5_uc001ofk.2_Missense_Mutation_p.R182Q|KAT5_uc010roo.1_Missense_Mutation_p.R130Q|KAT5_uc001ofl.2_5'UTR	p.R149Q	NM_006388	NP_006379	Q92993	KAT5_HUMAN			6	696	+			149					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.446G>A	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939248	0.52972	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.45276	0.97;0.9;0.96;0.9;0.9;0.92	5.04	5.04	0.67666	.	0.394807	0.23951	N	0.042942	T	0.41789	0.1174	L	0.36672	1.1	0.80722	D	1	D;D;B;D	0.63046	0.97;0.992;0.013;0.972	B;P;B;B	0.50490	0.297;0.642;0.002;0.296	T	0.10683	-1.0619	10	0.15952	T	0.53	-17.0852	15.8666	0.79069	0.0:0.0:1.0:0.0	.	130;182;97;149	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	Q	149;97;182;130;91;143	ENSP00000366245:R149Q;ENSP00000344955:R97Q;ENSP00000340330:R182Q;ENSP00000434765:R130Q;ENSP00000436000:R91Q;ENSP00000436012:R143Q	ENSP00000340330:R182Q	R	+	2	0	KAT5	65237644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.806000	0.86020	2.355000	0.79922	0.561000	0.74099	CGG		0.547	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2		NM_006388		24	81	0	0	0	0.076483	0	24	81		
CD248	57124	broad.mit.edu	37	11	66083095	66083095	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:66083095C>T	ENST00000311330.3	-	1	1420	c.1404G>A	c.(1402-1404)gtG>gtA	p.V468V	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	468	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						TGGCAGGGATCACAGGAGGCT	0.622																																						uc001ohm.1		NaN																	0				large_intestine(3)	3						c.(1402-1404)GTG>GTA		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						117.0	108.0	111.0					11																	66083095		2200	4295	6495	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66083095C>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1404G>A	11.37:g.66083095C>T							p.V468V	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	1421	-			468			Pro-rich.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1404G>A	CCDS8134.1																																																																																				0.622	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2		NM_020404		34	125	0	0	0	0.080422	0	34	125		
SPTBN2	6712	broad.mit.edu	37	11	66473242	66473242	+	Missense_Mutation	SNP	C	C	T	rs372241839		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:66473242C>T	ENST00000533211.1	-	14	2051	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E574K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E574K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	574					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCACCAGCTCGTGCAGCTGC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16751	0.0		0.0	False		,,,				2504	0.001					uc001ojd.2		NaN																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1720-1722)GAG>AAG		spectrin, beta, non-erythrocytic 2		C	LYS/GLU	0,4392		0,0,2196	25.0	22.0	23.0		1720	4.7	1.0	11		23	1,8577		0,1,4288	no	missense	SPTBN2	NM_006946.2	56	0,1,6484	TT,TC,CC		0.0117,0.0,0.0077	benign	574/2391	66473242	1,12969	2196	4289	6485	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66473242C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1720G>A	11.37:g.66473242C>T	ENSP00000432568:p.Glu574Lys						p.E574K	NM_006946	NP_008877	O15020	SPTN2_HUMAN			13	1792	-			574			Spectrin 3.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.1720G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834575	0.32421	0.0	1.17E-4	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.46451	0.87;0.87;0.87	4.66	4.66	0.58398	.	0.191004	0.46145	D	0.000311	T	0.18299	0.0439	N	0.03608	-0.345	0.33814	D	0.628192	B	0.17667	0.023	B	0.17722	0.019	T	0.23655	-1.0182	10	0.12430	T	0.62	.	10.1363	0.42708	0.0:0.9065:0.0:0.0935	.	574	O15020	SPTN2_HUMAN	K	574	ENSP00000432568:E574K;ENSP00000311489:E574K;ENSP00000433593:E574K	ENSP00000311489:E574K	E	-	1	0	SPTBN2	66229818	0.001000	0.12720	1.000000	0.80357	0.819000	0.46315	0.220000	0.17660	2.409000	0.81822	0.484000	0.47621	GAG		0.667	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2		NM_006946		11	29	0	0	0	0.069234	0	11	29		
PPFIA1	8500	broad.mit.edu	37	11	70194497	70194497	+	Nonsense_Mutation	SNP	G	G	T	rs376495152		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:70194497G>T	ENST00000253925.7	+	16	2349	c.2134G>T	c.(2134-2136)Gaa>Taa	p.E712*	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.E712*	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	712					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCCAGCTCGGGAAGTGGACAG	0.602																																						uc001opo.2		NaN																	0				lung(2)|ovary(1)	3						c.(2134-2136)GAA>TAA		PTPRF interacting protein alpha 1 isoform b							136.0	127.0	130.0					11																	70194497		2200	4294	6494	SO:0001587	stop_gained	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70194497G>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2134G>T	11.37:g.70194497G>T	ENSP00000253925:p.Glu712*					PPFIA1_uc001opn.1_Nonsense_Mutation_p.E712*|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.E712*	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		16	2332	+			712					A6NLE3|Q13135|Q14567|Q8N4I2	Nonsense_Mutation	SNP	ENST00000253925.7	37	c.2134G>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	43	10.476331	0.99412	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.717	0.96124	0.0:0.0:1.0:0.0	.	.	.	.	X	712;712;199	.	ENSP00000253925:E712X	E	+	1	0	PPFIA1	69872145	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.553000	0.98118	2.661000	0.90470	0.655000	0.94253	GAA		0.602	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		NM_003626		64	163	1	0	2.73361e-28	0.139131	3.26413e-28	64	163		
INTS4	92105	broad.mit.edu	37	11	77629999	77629999	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:77629999G>C	ENST00000534064.1	-	15	1824	c.1790C>G	c.(1789-1791)tCa>tGa	p.S597*		NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	597					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGAAACAGCTGATGACACCAG	0.458																																						uc001oys.2		NaN																	0				ovary(2)	2						c.(1789-1791)TCA>TGA		integrator complex subunit 4							94.0	94.0	94.0					11																	77629999		2200	4292	6492	SO:0001587	stop_gained	92105				snRNA processing	integrator complex	protein binding	g.chr11:77629999G>C	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1790C>G	11.37:g.77629999G>C	ENSP00000434466:p.Ser597*					INTS4_uc001oyt.2_RNA	p.S597*	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		15	1818	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		597					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Nonsense_Mutation	SNP	ENST00000534064.1	37	c.1790C>G	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	G	37	6.571734	0.97671	.	.	ENSG00000149262	ENST00000534064;ENST00000354849	.	.	.	4.45	4.45	0.53987	.	0.570779	0.17163	N	0.184607	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-1.93	17.3058	0.87194	0.0:0.0:1.0:0.0	.	.	.	.	X	597;448	.	ENSP00000346913:S448X	S	-	2	0	INTS4	77307647	0.988000	0.35896	0.981000	0.43875	0.982000	0.71751	3.701000	0.54793	2.317000	0.78254	0.650000	0.86243	TCA		0.458	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1		NM_033547		24	158	0	0	0	0.099896	0	24	158		
MTMR2	8898	broad.mit.edu	37	11	95591730	95591730	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr11:95591730G>C	ENST00000346299.5	-	6	875	c.535C>G	c.(535-537)Cta>Gta	p.L179V	MTMR2_ENST00000352297.7_Missense_Mutation_p.L107V|MTMR2_ENST00000409459.1_Missense_Mutation_p.L107V|MTMR2_ENST00000393223.3_Missense_Mutation_p.L107V|MTMR2_ENST00000484818.1_5'UTR	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	179					cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTTCATTAGATTCTCAAAT	0.318																																						uc001pfu.2		NaN																	0				pancreas(1)	1						c.(535-537)CTA>GTA		myotubularin-related protein 2 isoform 1							125.0	136.0	132.0					11																	95591730		2201	4296	6497	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95591730G>C	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.535C>G	11.37:g.95591730G>C	ENSP00000345752:p.Leu179Val					MTMR2_uc001pfv.2_Missense_Mutation_p.L107V|MTMR2_uc001pfs.2_Missense_Mutation_p.L107V|MTMR2_uc001pft.2_Missense_Mutation_p.L107V|MTMR2_uc010ruj.1_Missense_Mutation_p.L162V	p.L179V	NM_016156	NP_057240	Q13614	MTMR2_HUMAN			6	788	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	179					A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.535C>G	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200415	0.58126	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.53	5.53	0.82687	.	0.064986	0.64402	D	0.000005	D	0.91713	0.7380	M	0.88031	2.925	0.80722	D	1	P;P	0.38148	0.62;0.62	B;B	0.42319	0.383;0.383	D	0.92419	0.5944	10	0.66056	D	0.02	.	14.0595	0.64790	0.0723:0.0:0.9277:0.0	.	179;179	A8K5G2;Q13614	.;MTMR2_HUMAN	V	179;107;107;107;107;162	ENSP00000345752:L179V;ENSP00000376915:L107V;ENSP00000386882:L107V;ENSP00000343737:L107V;ENSP00000396020:L107V	ENSP00000345752:L179V	L	-	1	2	MTMR2	95231378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.215000	0.42862	2.749000	0.94314	0.655000	0.94253	CTA		0.318	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1		NM_016156		40	160	0	0	0	0.139131	0	40	160		
PHB2	11331	broad.mit.edu	37	12	7076925	7076925	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:7076925G>A	ENST00000535923.1	-	6	906	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000440277.1_Intron|U47924.29_ENST00000606539.1_RNA|PHB2_ENST00000542912.1_Missense_Mutation_p.R209W|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000399433.2_Missense_Mutation_p.R209W	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						AATTGGGCCCGCTGGGCCTCC	0.587																																						uc001qsd.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(625-627)CGG>TGG		prohibitin 2 isoform 1							107.0	116.0	113.0					12																	7076925		1906	4121	6027	SO:0001583	missense	11331				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity	g.chr12:7076925G>A	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.625C>T	12.37:g.7076925G>A	ENSP00000441875:p.Arg209Trp					PHB2_uc010sft.1_Intron|PHB2_uc010sfu.1_3'UTR|PHB2_uc001qse.1_5'Flank|PHB2_uc001qsf.1_5'Flank|PHB2_uc009zfn.1_5'Flank|SCARNA12_uc001qsg.2_5'Flank	p.R209W	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN			6	835	-			209			Potential.			Missense_Mutation	SNP	ENST00000535923.1	37	c.625C>T	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497293	0.64186	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000545167	.	.	.	4.6	2.56	0.30785	.	0.000000	0.64402	U	0.000002	D	0.86439	0.5933	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90105	0.4187	9	0.72032	D	0.01	-15.6752	12.9329	0.58296	0.0:0.0:0.5775:0.4225	.	209	Q99623	PHB2_HUMAN	W	209;209;209;245	.	ENSP00000382362:R209W	R	-	1	2	PHB2	6947186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.513000	0.35823	1.130000	0.42092	0.655000	0.94253	CGG		0.587	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3		NM_007273		53	193	0	0	0	0.139131	0	53	193		
GDF3	9573	broad.mit.edu	37	12	7842947	7842947	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:7842947C>G	ENST00000329913.3	-	2	669	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	208					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCTCTATCTTCTTTGACCAGT	0.493																																						uc001qte.2		NaN																	0				skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(622-624)GAA>CAA		growth differentiation factor 3 precursor							73.0	76.0	75.0					12																	7842947		2203	4300	6503	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842947C>G	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.622G>C	12.37:g.7842947C>G	ENSP00000331745:p.Glu208Gln						p.E208Q	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			2	658	-			208					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.622G>C	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277198	0.23307	.	.	ENSG00000184344	ENST00000329913	T	0.66099	-0.19	4.61	4.61	0.57282	Transforming growth factor-beta, N-terminal (1);	0.385688	0.24217	N	0.040471	T	0.56572	0.1994	L	0.36672	1.1	0.26310	N	0.977842	P	0.38677	0.642	B	0.41764	0.366	T	0.53641	-0.8410	10	0.35671	T	0.21	.	15.3317	0.74219	0.0:1.0:0.0:0.0	.	208	Q9NR23	GDF3_HUMAN	Q	208	ENSP00000331745:E208Q	ENSP00000331745:E208Q	E	-	1	0	GDF3	7734214	0.000000	0.05858	0.502000	0.27614	0.693000	0.40251	0.144000	0.16135	2.285000	0.76669	0.561000	0.74099	GAA		0.493	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1				23	49	0	0	0	0.062417	0	23	49		
FOXJ2	55810	broad.mit.edu	37	12	8205417	8205417	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:8205417G>C	ENST00000162391.3	+	11	2841	c.1696G>C	c.(1696-1698)Gat>Cat	p.D566H	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	566					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGAGATCCCTGATGACTTCGA	0.532																																						uc001qtu.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(1696-1698)GAT>CAT		forkhead box J2							82.0	60.0	68.0					12																	8205417		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8205417G>C	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1696G>C	12.37:g.8205417G>C	ENSP00000162391:p.Asp566His						p.D566H	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	11	2781	+			566					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.1696G>C	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488357	0.84854	.	.	ENSG00000065970	ENST00000162391	D	0.99311	-5.73	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000019	D	0.99251	0.9739	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.99787	1.1030	10	0.87932	D	0	.	17.6544	0.88174	0.0:0.0:1.0:0.0	.	566	Q9P0K8	FOXJ2_HUMAN	H	566	ENSP00000162391:D566H	ENSP00000162391:D566H	D	+	1	0	FOXJ2	8096684	1.000000	0.71417	0.973000	0.42090	0.933000	0.57130	6.918000	0.75788	2.772000	0.95346	0.650000	0.86243	GAT		0.532	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1		NM_018416		4	11	0	0	0	0.009096	0	4	11		
KIAA1467	57613	broad.mit.edu	37	12	13208508	13208508	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:13208508G>A	ENST00000197268.8	+	2	181	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	21						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGACCTAGGGGAGTATGATCC	0.473																																						uc001rbi.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(61-63)GAG>AAG		hypothetical protein LOC57613							71.0	73.0	72.0					12																	13208508		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208508G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.61G>A	12.37:g.13208508G>A	ENSP00000197268:p.Glu21Lys					KIAA1467_uc009zhx.1_RNA	p.E21K	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	84	+		Prostate(47;0.184)	21					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.61G>A	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	34	5.335628	0.95758	.	.	ENSG00000084444	ENST00000197268	T	0.34472	1.36	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.66939	2.045	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.63928	-0.6526	10	0.87932	D	0	-13.2772	19.2344	0.93853	0.0:0.0:1.0:0.0	.	21	A2RU67	K1467_HUMAN	K	21	ENSP00000197268:E21K	ENSP00000197268:E21K	E	+	1	0	KIAA1467	13099775	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.186000	0.89706	2.534000	0.85438	0.650000	0.86243	GAG		0.473	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1		NM_020853		16	45	0	0	0	0.0333	0	16	45		
RERG	85004	broad.mit.edu	37	12	15262116	15262116	+	Silent	SNP	C	C	T	rs147938337	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:15262116C>T	ENST00000256953.2	-	5	864	c.528G>A	c.(526-528)aaG>aaA	p.K176K	RERG_ENST00000538313.1_Silent_p.K176K|RERG_ENST00000536465.1_Silent_p.K176K|RERG_ENST00000546331.1_Silent_p.K157K	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	176					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GTCGCCTCGTCTTGCCCTGCA	0.522																																						uc001rcs.2		NaN																	0				lung(1)	1						c.(526-528)AAG>AAA		RAS-like, estrogen-regulated, growth inhibitor		C	,	0,4406		0,0,2203	125.0	118.0	120.0		471,528	3.7	1.0	12	dbSNP_134	120	7,8593	5.7+/-21.5	1,5,4294	no	coding-synonymous,coding-synonymous	RERG	NM_001190726.1,NM_032918.2	,	1,5,6497	TT,TC,CC		0.0814,0.0,0.0538	,	157/181,176/200	15262116	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262116C>T	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.528G>A	12.37:g.15262116C>T						RERG_uc001rct.2_Silent_p.K176K|RERG_uc010shu.1_Silent_p.K157K	p.K176K	NM_032918	NP_116307	Q96A58	RERG_HUMAN			4	668	-			176					B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	c.528G>A	CCDS8673.1																																																																																				0.522	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1		NM_032918		37	86	0	0	0	0.069456	0	37	86		
PTPRO	5800	broad.mit.edu	37	12	15733754	15733754	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:15733754G>C	ENST00000281171.4	+	22	3451	c.3121G>C	c.(3121-3123)Gag>Cag	p.E1041Q	PTPRO_ENST00000442921.2_Missense_Mutation_p.E230Q|PTPRO_ENST00000348962.2_Missense_Mutation_p.E1013Q|PTPRO_ENST00000445537.2_Missense_Mutation_p.E230Q|PTPRO_ENST00000542557.1_Missense_Mutation_p.E202Q|PTPRO_ENST00000544244.1_Missense_Mutation_p.E202Q	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1041	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCAGTGTAATGAGAAAAGGAG	0.463																																						uc001rcv.1		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(3121-3123)GAG>CAG		receptor-type protein tyrosine phosphatase O							103.0	93.0	96.0					12																	15733754		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15733754G>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3121G>C	12.37:g.15733754G>C	ENSP00000281171:p.Glu1041Gln					PTPRO_uc001rcw.1_Missense_Mutation_p.E1013Q|PTPRO_uc001rcx.1_Missense_Mutation_p.E230Q|PTPRO_uc001rcy.1_Missense_Mutation_p.E230Q|PTPRO_uc001rcz.1_Missense_Mutation_p.E202Q|PTPRO_uc001rda.1_Missense_Mutation_p.E202Q	p.E1041Q	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			22	3295	+		Hepatocellular(102;0.244)	1041			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3121G>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155709	0.94686	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244;ENST00000535322	T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.95	5.95	0.96441	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.121046	0.36815	N	0.002390	T	0.60958	0.2309	M	0.93462	3.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.69866	-0.5029	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	202;1013;1041	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	Q	1041;1013;230;202;230;202;20	ENSP00000281171:E1041Q;ENSP00000343434:E1013Q;ENSP00000404188:E230Q;ENSP00000437571:E202Q;ENSP00000393449:E230Q;ENSP00000439234:E202Q;ENSP00000446201:E20Q	ENSP00000281171:E1041Q	E	+	1	0	PTPRO	15625021	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	9.470000	0.97683	2.827000	0.97445	0.650000	0.86243	GAG		0.463	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1				13	54	0	0	0	0.11911	0	13	54		
SLCO1B1	10599	broad.mit.edu	37	12	21358897	21358897	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:21358897A>G	ENST00000256958.2	+	11	1523	c.1427A>G	c.(1426-1428)aAc>aGc	p.N476S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	476	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTCTGTGGAAACAATGGAATA	0.383																																						uc001req.3		NaN																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1426-1428)AAC>AGC		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						143.0	141.0	142.0					12																	21358897		2203	4299	6502	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21358897A>G		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1427A>G	12.37:g.21358897A>G	ENSP00000256958:p.Asn476Ser						p.N476S	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			11	1531	+			476			Extracellular (Potential).|Kazal-like.		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1427A>G	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	A	7.510	0.654428	0.14580	.	.	ENSG00000134538	ENST00000256958	T	0.04083	3.71	4.06	0.289	0.15723	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	1.445890	0.03660	N	0.242431	T	0.01940	0.0061	N	0.00890	-1.11	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.43278	-0.9401	10	0.25751	T	0.34	.	6.6498	0.22955	0.6925:0.0:0.3075:0.0	.	476	Q9Y6L6	SO1B1_HUMAN	S	476	ENSP00000256958:N476S	ENSP00000256958:N476S	N	+	2	0	SLCO1B1	21250164	0.002000	0.14202	0.050000	0.19076	0.965000	0.64279	1.244000	0.32778	-0.243000	0.09653	0.397000	0.26171	AAC		0.383	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1		NM_006446		15	49	0	0	0	0.11911	0	15	49		
CNTN1	1272	broad.mit.edu	37	12	41337481	41337481	+	Missense_Mutation	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:41337481A>T	ENST00000551295.2	+	13	1579	c.1462A>T	c.(1462-1464)Aat>Tat	p.N488Y	CNTN1_ENST00000348761.2_Missense_Mutation_p.N477Y|CNTN1_ENST00000547702.1_Missense_Mutation_p.N488Y|CNTN1_ENST00000360099.3_Missense_Mutation_p.N488Y|CNTN1_ENST00000547849.1_Missense_Mutation_p.N488Y|CNTN1_ENST00000347616.1_Missense_Mutation_p.N488Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	488	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTTTGCAGAAAATAACAGAGG	0.333																																						uc001rmm.1		NaN																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(1462-1464)AAT>TAT		contactin 1 isoform 1 precursor							106.0	106.0	106.0					12																	41337481		2203	4298	6501	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41337481A>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1462A>T	12.37:g.41337481A>T	ENSP00000447006:p.Asn488Tyr					CNTN1_uc009zjy.1_Missense_Mutation_p.N488Y|CNTN1_uc001rmn.1_Missense_Mutation_p.N477Y|CNTN1_uc001rmo.2_Missense_Mutation_p.N488Y	p.N488Y	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			13	1575	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	488			Ig-like C2-type 5.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1462A>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231123	0.79688	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.2	5.2	0.72013	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81456	0.4826	H	0.98936	4.375	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.89244	0.3586	10	0.87932	D	0	.	15.3658	0.74519	1.0:0.0:0.0:0.0	.	488;477;488	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	Y	488;488;488;488;488;477	ENSP00000448004:N488Y;ENSP00000447006:N488Y;ENSP00000448653:N488Y;ENSP00000325660:N488Y;ENSP00000353213:N488Y;ENSP00000261160:N477Y	ENSP00000325660:N488Y	N	+	1	0	CNTN1	39623748	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.716000	0.91420	2.101000	0.63845	0.459000	0.35465	AAT		0.333	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2		NM_001843		6	30	0	0	0	0.02938	0	6	30		
SLC38A1	81539	broad.mit.edu	37	12	46598164	46598164	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:46598164G>C	ENST00000398637.5	-	11	1436	c.742C>G	c.(742-744)Cca>Gca	p.P248A	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.P248A|SLC38A1_ENST00000439706.1_Missense_Mutation_p.P248A|SLC38A1_ENST00000552197.1_Missense_Mutation_p.P248A|SLC38A1_ENST00000549049.1_Missense_Mutation_p.P248A	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	248					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTAGCTCTGGAACAATGCAG	0.323																																						uc001rpa.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(742-744)CCA>GCA		amino acid transporter system A1							205.0	190.0	195.0					12																	46598164		1851	4107	5958	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46598164G>C	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.742C>G	12.37:g.46598164G>C	ENSP00000381634:p.Pro248Ala					SLC38A1_uc001rpb.2_Missense_Mutation_p.P248A|SLC38A1_uc001rpc.2_Missense_Mutation_p.P248A|SLC38A1_uc001rpd.2_Missense_Mutation_p.P248A|SLC38A1_uc001rpe.2_Missense_Mutation_p.P248A|SLC38A1_uc010slh.1_Missense_Mutation_p.P221A|SLC38A1_uc009zkj.1_Missense_Mutation_p.P248A	p.P248A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		11	1000	-	Lung SC(27;0.137)|Renal(347;0.236)		248			Extracellular (Potential).		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.742C>G	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244906	0.22796	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02103	4.45;4.45;4.45;4.45;4.45	5.37	-6.46	0.01908	.	1.042290	0.07526	N	0.911303	T	0.02156	0.0067	L	0.50333	1.59	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.15052	0.012;0.001;0.002	T	0.46303	-0.9201	10	0.41790	T	0.15	2.3796	3.6742	0.08286	0.3117:0.3266:0.2816:0.0801	.	248;248;248	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	A	248	ENSP00000449607:P248A;ENSP00000398142:P248A;ENSP00000381634:P248A;ENSP00000447853:P248A;ENSP00000449756:P248A	ENSP00000381634:P248A	P	-	1	0	SLC38A1	44884431	0.000000	0.05858	0.000000	0.03702	0.647000	0.38526	-1.704000	0.01898	-0.957000	0.03627	0.467000	0.42956	CCA		0.323	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2				29	140	0	0	0	0.116897	0	29	140		
VDR	7421	broad.mit.edu	37	12	48240460	48240460	+	Missense_Mutation	SNP	C	C	T	rs190607107		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:48240460C>T	ENST00000395324.2	-	8	1155	c.887G>A	c.(886-888)cGc>cAc	p.R296H	VDR_ENST00000550325.1_Missense_Mutation_p.R346H|VDR_ENST00000549336.1_Missense_Mutation_p.R296H|VDR_ENST00000535672.1_Missense_Mutation_p.R264H|VDR_ENST00000229022.3_Missense_Mutation_p.R296H			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	296	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTCACTGACGCGGTACTTGTA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		22783	0.001		0.0	False		,,,				2504	0.0					uc001rqm.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(886-888)CGC>CAC		vitamin D (1,25-dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						189.0	137.0	154.0					12																	48240460		2203	4300	6503	SO:0001583	missense	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48240460C>T	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.887G>A	12.37:g.48240460C>T	ENSP00000378734:p.Arg296His					VDR_uc001rql.2_Missense_Mutation_p.R346H|VDR_uc001rqn.2_Missense_Mutation_p.R296H|VDR_uc010slq.1_Missense_Mutation_p.R264H	p.R296H	NM_001017535	NP_001017535	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	9	1169	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	296			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.887G>A	CCDS8757.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.31	2.198889	0.38806	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07	5.23	0.583	0.17417	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	1.314740	0.04461	N	0.374363	D	0.92110	0.7499	N	0.14661	0.345	0.09310	N	1	P;P;D	0.54397	0.468;0.468;0.966	P;P;B	0.44477	0.451;0.451;0.372	D	0.85550	0.1221	10	0.49607	T	0.09	.	8.557	0.33487	0.0:0.3564:0.0:0.6436	.	264;296;346	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	H	296;296;296;346;264	ENSP00000378734:R296H;ENSP00000229022:R296H;ENSP00000449573:R296H;ENSP00000447173:R346H;ENSP00000442145:R264H	ENSP00000229022:R296H	R	-	2	0	VDR	46526727	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.170000	0.09897	-0.120000	0.11809	-0.150000	0.13652	CGC		0.542	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1				28	33	0	0	0	0.108266	0	28	33		
KMT2D	8085	broad.mit.edu	37	12	49434818	49434818	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:49434818G>C	ENST00000301067.7	-	31	6734	c.6735C>G	c.(6733-6735)ctC>ctG	p.L2245L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2245	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGCGGGGTTTGAGGAATGGGT	0.657																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6733-6735)CTC>CTG		myeloid/lymphoid or mixed-lineage leukemia 2							46.0	52.0	50.0					12																	49434818		1926	4126	6052	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49434818G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6735C>G	12.37:g.49434818G>C		HNSCC(34;0.089)					p.L2245L	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	6735	-			2245			Pro-rich.		O14687	Silent	SNP	ENST00000301067.7	37	c.6735C>G	CCDS44873.1																																																																																				0.657	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				18	52	0	0	0	0.043863	0	18	52		
KRT6B	3854	broad.mit.edu	37	12	52845415	52845415	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:52845415G>C	ENST00000252252.3	-	1	495	c.448C>G	c.(448-450)Ctg>Gtg	p.L150V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	150	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAATTTGCAGGTTGAGGGGA	0.612																																						uc001sak.2		NaN																	0				ovary(2)	2						c.(448-450)CTG>GTG		keratin 6B							100.0	131.0	121.0					12																	52845415		2201	4300	6501	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845415G>C	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.448C>G	12.37:g.52845415G>C	ENSP00000252252:p.Leu150Val						p.L150V	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	496	-			150			Head.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.448C>G	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	G	0.082	-1.181530	0.01633	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.91686	-2.89	3.28	2.37	0.29283	.	0.000000	0.46442	D	0.000295	D	0.84844	0.5562	L	0.42632	1.34	0.35425	D	0.793575	B	0.26547	0.152	B	0.22601	0.04	T	0.78505	-0.2178	10	0.14656	T	0.56	.	7.2577	0.26185	0.1467:0.1611:0.6922:0.0	.	150	P04259	K2C6B_HUMAN	V	150	ENSP00000252252:L150V	ENSP00000252252:L150V	L	-	1	2	KRT6B	51131682	.	.	1.000000	0.80357	0.751000	0.42716	.	.	0.944000	0.37579	0.298000	0.19748	CTG		0.612	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1		NM_005555		17	122	0	0	0	0.049695	0	17	122		
KRT73	319101	broad.mit.edu	37	12	53004528	53004528	+	Missense_Mutation	SNP	C	C	T	rs200649407		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:53004528C>T	ENST00000305748.3	-	7	1236	c.1202G>A	c.(1201-1203)gGc>gAc	p.G401D	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	401	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCAGGGCGCCCTCCAGCTC	0.637																																						uc001sas.2		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(1201-1203)GGC>GAC		keratin 73							91.0	74.0	80.0					12																	53004528		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53004528C>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1202G>A	12.37:g.53004528C>T	ENSP00000307014:p.Gly401Asp						p.G401D	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1237	-			401			Rod.|Coil 2.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.1202G>A	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	3.859	-0.030183	0.07543	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	T;D	0.88124	-0.73;-2.34	5.62	-3.37	0.04898	Filament (1);	1.035390	0.07683	N	0.937370	T	0.63640	0.2528	N	0.00738	-1.235	0.09310	N	0.999993	B	0.20550	0.046	B	0.29862	0.108	T	0.56908	-0.7901	10	0.08179	T	0.78	.	12.5596	0.56273	0.0:0.473:0.3011:0.2259	.	401	Q86Y46	K2C73_HUMAN	D	401;146	ENSP00000307014:G401D;ENSP00000449081:G146D	ENSP00000307014:G401D	G	-	2	0	KRT73	51290795	0.001000	0.12720	0.019000	0.16419	0.855000	0.48748	-0.123000	0.10611	-0.361000	0.08125	-0.311000	0.09066	GGC		0.637	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1		NM_175068		13	69	0	0	0	0.11911	0	13	69		
ITGA5	3678	broad.mit.edu	37	12	54799103	54799103	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:54799103G>A	ENST00000293379.4	-	12	1333	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	358					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCTGAGGCCGCCCGTCAGGG	0.647																																						uc001sga.2		NaN																	0				ovary(2)	2						c.(1072-1074)CGG>TGG		integrin alpha 5 precursor							33.0	31.0	32.0					12																	54799103		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54799103G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1072C>T	12.37:g.54799103G>A	ENSP00000293379:p.Arg358Trp					ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	p.R358W	NM_002205	NP_002196	P08648	ITA5_HUMAN			12	1140	-			358			Extracellular (Potential).|FG-GAP 5.		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.1072C>T	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473489	0.63737	.	.	ENSG00000161638	ENST00000293379	T	0.67698	-0.28	3.99	1.99	0.26369	.	0.073992	0.50627	D	0.000113	T	0.77336	0.4115	M	0.70275	2.135	0.48696	D	0.999696	D	0.89917	1.0	D	0.80764	0.994	T	0.76639	-0.2885	10	0.87932	D	0	.	9.6307	0.39778	0.0:0.0:0.4254:0.5746	.	358	P08648	ITA5_HUMAN	W	358	ENSP00000293379:R358W	ENSP00000293379:R358W	R	-	1	2	ITGA5	53085370	0.108000	0.22018	0.982000	0.44146	0.905000	0.53344	1.122000	0.31295	0.382000	0.24878	0.561000	0.74099	CGG		0.647	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1				6	26	0	0	0	0.021553	0	6	26		
OR6C65	403282	broad.mit.edu	37	12	55794819	55794819	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:55794819C>A	ENST00000379665.2	+	1	606	c.507C>A	c.(505-507)tcC>tcA	p.S169S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTGTGACTCCAGCACTATTG	0.438																																						uc010spl.1		NaN																	0					0						c.(505-507)TCC>TCA		olfactory receptor, family 6, subfamily C,							204.0	212.0	209.0					12																	55794819		2203	4300	6503	SO:0001819	synonymous_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794819C>A		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.507C>A	12.37:g.55794819C>A							p.S169S	NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN			1	507	+			169			Extracellular (Potential).		B2RNH9	Silent	SNP	ENST00000379665.2	37	c.507C>A	CCDS31821.1																																																																																				0.438	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1				145	195	1	0	8.06951e-73	0.139131	9.7672e-73	145	195		
BAZ2A	11176	broad.mit.edu	37	12	56998908	56998908	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:56998908G>A	ENST00000551812.1	-	14	2896	c.2703C>T	c.(2701-2703)gtC>gtT	p.V901V	BAZ2A_ENST00000179765.5_Silent_p.V869V|BAZ2A_ENST00000549884.1_Silent_p.V899V|BAZ2A_ENST00000379441.3_Silent_p.V871V	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	901	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCAGCAGCCTGACCAGCAGGT	0.557																																						uc001slq.1		NaN																	0					0						c.(2701-2703)GTC>GTT		bromodomain adjacent to zinc finger domain, 2A							70.0	70.0	70.0					12																	56998908		2104	4229	6333	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56998908G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2703C>T	12.37:g.56998908G>A						BAZ2A_uc001slp.1_Silent_p.V899V|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Silent_p.V869V	p.V901V	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			14	2897	-			901			DDT.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.2703C>T	CCDS44924.1																																																																																				0.557	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1		NM_013449		9	55	0	0	0	0.058154	0	9	55		
BEST3	144453	broad.mit.edu	37	12	70066697	70066697	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:70066697C>G	ENST00000330891.5	-	8	1142	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	BEST3_ENST00000553096.1_Missense_Mutation_p.E200Q|BEST3_ENST00000488961.1_Missense_Mutation_p.E93Q|BEST3_ENST00000476098.1_Missense_Mutation_p.E93Q|BEST3_ENST00000331471.4_Missense_Mutation_p.E306Q	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	306					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGTTAGTTTCAAAATCATCA	0.328																																						uc001svg.2		NaN																	0					0						c.(916-918)GAA>CAA		vitelliform macular dystrophy 2-like 3 isoform							121.0	121.0	121.0					12																	70066697		2057	4240	6297	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70066697C>G	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.916G>C	12.37:g.70066697C>G	ENSP00000332413:p.Glu306Gln					BEST3_uc001svd.1_Missense_Mutation_p.E306Q|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Missense_Mutation_p.E93Q|BEST3_uc010stm.1_Missense_Mutation_p.E200Q|BEST3_uc001svh.2_Missense_Mutation_p.E93Q	p.E306Q	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		8	1143	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		306			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.916G>C	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638066	0.87760	.	.	ENSG00000127325	ENST00000331471;ENST00000488961;ENST00000330891;ENST00000553096;ENST00000476098;ENST00000552295	D;D;D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26;-5.26;-5.26	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	H	0.95294	3.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.994	D	0.98393	1.0564	10	0.87932	D	0	-17.2764	18.1159	0.89555	0.0:1.0:0.0:0.0	.	93;306;93;306	E9PNM2;Q8N1M1;B5MDI8;Q8N1M1-1	.;BEST3_HUMAN;.;.	Q	306;93;306;200;93;149	ENSP00000329064:E306Q;ENSP00000433213:E93Q;ENSP00000332413:E306Q;ENSP00000449548:E200Q;ENSP00000434713:E93Q;ENSP00000447689:E149Q	ENSP00000332413:E306Q	E	-	1	0	BEST3	68352964	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.776000	0.85560	2.359000	0.80004	0.462000	0.41574	GAA		0.328	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2		NM_152439		10	39	0	0	0	0.080935	0	10	39		
PTPRB	5787	broad.mit.edu	37	12	70938355	70938355	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:70938355G>A	ENST00000261266.5	-	20	4851	c.4822C>T	c.(4822-4824)Ccc>Tcc	p.P1608S	PTPRB_ENST00000334414.6_Missense_Mutation_p.P1826S|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1518S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1738S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1518S|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1518S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1608					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTAGTGATGGGTAAAGAAAAA	0.408																																						uc001swb.3		NaN																	0				lung(2)|skin(1)	3						c.(4822-4824)CCC>TCC		protein tyrosine phosphatase, receptor type, B							107.0	104.0	105.0					12																	70938355		1856	4108	5964	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70938355G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4822C>T	12.37:g.70938355G>A	ENSP00000261266:p.Pro1608Ser					PTPRB_uc010sto.1_Missense_Mutation_p.P1518S|PTPRB_uc010stp.1_Missense_Mutation_p.P1518S|PTPRB_uc001swc.3_Missense_Mutation_p.P1826S|PTPRB_uc001swa.3_Missense_Mutation_p.P1738S	p.P1608S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		20	4852	-	Renal(347;0.236)		1608			Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4822C>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856772	0.71834	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.03358	3.97;3.96;3.96;4.02;3.97;4.01	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	0.982;1.0;0.998;0.983;0.993	P;D;D;P;D	0.97110	0.792;1.0;0.913;0.807;0.913	T	0.00992	-1.1488	10	0.27082	T	0.32	.	19.6288	0.95691	0.0:0.0:1.0:0.0	.	1518;1518;1826;1608;1738	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	S	1826;1518;1738;1518;1518;1608	ENSP00000334928:P1826S;ENSP00000393028:P1518S;ENSP00000448058:P1738S;ENSP00000438927:P1518S;ENSP00000447302:P1518S;ENSP00000261266:P1608S	ENSP00000261266:P1608S	P	-	1	0	PTPRB	69224622	1.000000	0.71417	0.982000	0.44146	0.464000	0.32679	8.589000	0.90817	2.656000	0.90262	0.573000	0.79308	CCC		0.408	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1				12	15	0	0	0	0.09319	0	12	15		
LGR5	8549	broad.mit.edu	37	12	71977759	71977759	+	Missense_Mutation	SNP	C	C	G	rs552736723		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:71977759C>G	ENST00000266674.5	+	18	2280	c.1969C>G	c.(1969-1971)Ctg>Gtg	p.L657V	LGR5_ENST00000540815.2_Missense_Mutation_p.L633V|LGR5_ENST00000536515.1_Missense_Mutation_p.L585V|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	657					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTGCTTACTCTGGCAGCCCT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		22490	0.0		0.0	False		,,,				2504	0.001					uc001swl.2		NaN																	0				lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(1969-1971)CTG>GTG		leucine-rich repeat-containing G protein-coupled							145.0	130.0	135.0					12																	71977759		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977759C>G	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1969C>G	12.37:g.71977759C>G	ENSP00000266674:p.Leu657Val					LGR5_uc001swm.2_Missense_Mutation_p.L633V|LGR5_uc001swn.1_Intron	p.L657V	NM_003667	NP_003658	O75473	LGR5_HUMAN			18	2017	+			657			Helical; Name=3; (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1969C>G	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792360	0.31685	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.92911	-3.13;-3.13;-3.13	5.95	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.142426	0.31709	N	0.007193	D	0.87708	0.6245	L	0.28649	0.875	0.22001	N	0.999424	B;B	0.31581	0.145;0.329	B;P	0.44696	0.247;0.458	T	0.75566	-0.3273	10	0.18276	T	0.48	.	6.5367	0.22357	0.0:0.4174:0.3408:0.2419	.	633;657	O75473-2;O75473	.;LGR5_HUMAN	V	657;657;585;633	ENSP00000266674:L657V;ENSP00000443033:L585V;ENSP00000441035:L633V	ENSP00000266674:L657V	L	+	1	2	LGR5	70264026	0.000000	0.05858	0.701000	0.30321	0.998000	0.95712	-0.419000	0.07071	0.112000	0.17975	0.655000	0.94253	CTG		0.448	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1		NM_003667		27	95	0	0	0	0.108266	0	27	95		
PAH	5053	broad.mit.edu	37	12	103246654	103246654	+	Nonsense_Mutation	SNP	G	G	A	rs5030850		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:103246654G>A	ENST00000553106.1	-	7	1253	c.781C>T	c.(781-783)Cga>Tga	p.R261*	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Nonsense_Mutation_p.R256*	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	261			R -> P (in PKU).|R -> Q (in HPA and PKU; mild; haplotypes 1,2,4,22, 24,28; dbSNP:rs5030849). {ECO:0000269|PubMed:12501224, ECO:0000269|PubMed:1671810, ECO:0000269|PubMed:22513348, ECO:0000269|PubMed:23792259, ECO:0000269|PubMed:8889590}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGGAAGACTCGGAAGGCCAGG	0.542																																						uc001tjq.1		NaN																	0				ovary(4)	4	GRCh37	CM910288	PAH	M	rs5030850	c.(781-783)CGA>TGA		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						115.0	114.0	114.0					12																	103246654		2203	4300	6503	SO:0001587	stop_gained	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246654G>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.781C>T	12.37:g.103246654G>A	ENSP00000448059:p.Arg261*						p.R261*	NM_000277	NP_000268	P00439	PH4H_HUMAN			8	1253	-			261		R -> P (in PKU).			Q16717|Q8TC14	Nonsense_Mutation	SNP	ENST00000553106.1	37	c.781C>T	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	G	43	10.191283	0.99355	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	.	.	.	5.72	3.79	0.43588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5131	14.3299	0.66548	0.0:0.0:0.6162:0.3838	rs5030850	.	.	.	X	261;256	.	ENSP00000303500:R256X	R	-	1	2	PAH	101770784	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.722000	0.47269	1.380000	0.46344	0.557000	0.71058	CGA		0.542	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1				5	82	0	0	0	0.021553	0	5	82		
IFT81	28981	broad.mit.edu	37	12	110581342	110581342	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:110581342G>C	ENST00000242591.5	+	9	1443	c.937G>C	c.(937-939)Gaa>Caa	p.E313Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E313Q|IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000361948.4_Missense_Mutation_p.E313Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	313					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TCTTGAACTTGAATCTAAAGT	0.308																																						uc001tqi.2		NaN																	0				ovary(1)	1						c.(937-939)GAA>CAA		intraflagellar transport 81-like isoform 1							72.0	85.0	81.0					12																	110581342		2189	4283	6472	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110581342G>C	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.937G>C	12.37:g.110581342G>C	ENSP00000242591:p.Glu313Gln					IFT81_uc001tqh.2_Missense_Mutation_p.E313Q|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.E313Q	p.E313Q	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			9	1067	+			313			Potential.		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.937G>C	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225437	0.58668	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T	0.30448	1.53	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	L	0.39514	1.22	0.80722	D	1	B;D	0.71674	0.191;0.998	B;D	0.80764	0.069;0.994	T	0.28964	-1.0027	10	0.30078	T	0.28	-17.201	17.8536	0.88755	0.0:0.0:1.0:0.0	.	313;313	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	Q	313;313;313;283	ENSP00000355372:E313Q	ENSP00000242591:E313Q	E	+	1	0	IFT81	109065725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.793000	0.69060	2.279000	0.76181	0.563000	0.77884	GAA		0.308	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1		NM_014055		22	115	0	0	0	0.083992	0	22	115		
NOS1	4842	broad.mit.edu	37	12	117662862	117662862	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:117662862C>T	ENST00000338101.4	-	25	3891	c.3887G>A	c.(3886-3888)cGa>cAa	p.R1296Q	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R1262Q			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.R1262Q(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCAGAAGCTTCGGAAAGGGGC	0.617																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NaN																	2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(3784-3786)CGA>CAA		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						127.0	139.0	135.0					12																	117662862		1940	4144	6084	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117662862C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3887G>A	12.37:g.117662862C>T	ENSP00000337459:p.Arg1296Gln						p.R1262Q	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	25	4471	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1262			NADP (By similarity).			Missense_Mutation	SNP	ENST00000338101.4	37	c.3785G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	36	5.781958	0.96929	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.84873	-1.91;-1.91	4.93	4.93	0.64822	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.96062	0.8717	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98038	1.0380	10	0.87932	D	0	-14.0159	18.3244	0.90248	0.0:1.0:0.0:0.0	.	1262	P29475	NOS1_HUMAN	Q	1157;1262;1296	ENSP00000320758:R1262Q;ENSP00000337459:R1296Q	ENSP00000320758:R1262Q	R	-	2	0	NOS1	116147245	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.629000	0.83207	2.555000	0.86185	0.561000	0.74099	CGA		0.617	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1				42	160	0	0	0	0.11126	0	42	160		
ZCCHC8	55596	broad.mit.edu	37	12	122958378	122958378	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:122958378G>A	ENST00000336229.4	-	14	1920	c.1790C>T	c.(1789-1791)tCc>tTc	p.S597F	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.S359F|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.S359F|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.S208F	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	597					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GTCTGGACTGGAGGCATGTCC	0.488																																						uc001ucn.2		NaN																	0					0						c.(1789-1791)TCC>TTC		zinc finger, CCHC domain containing 8							161.0	158.0	159.0					12																	122958378		1916	4125	6041	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958378G>A	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1790C>T	12.37:g.122958378G>A	ENSP00000337313:p.Ser597Phe					ZCCHC8_uc001ucl.2_Missense_Mutation_p.S208F|ZCCHC8_uc001ucm.2_Missense_Mutation_p.S359F|ZCCHC8_uc009zxp.2_Missense_Mutation_p.S359F|ZCCHC8_uc009zxq.2_Missense_Mutation_p.S359F	p.S597F	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	14	1921	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		597					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.1790C>T		.	.	.	.	.	.	.	.	.	.	G	10.08	1.253231	0.22965	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.47869	0.85;0.85;0.84;0.83	5.23	-1.53	0.08611	.	1.886500	0.02152	N	0.058105	T	0.33673	0.0871	L	0.36672	1.1	0.09310	N	1	B	0.26318	0.146	B	0.21917	0.037	T	0.10567	-1.0624	10	0.49607	T	0.09	1.5422	0.1965	0.00140	0.3211:0.2428:0.2014:0.2347	.	597	Q6NZY4	ZCHC8_HUMAN	F	359;359;597;208	ENSP00000441423:S359F;ENSP00000438993:S359F;ENSP00000337313:S597F;ENSP00000440028:S208F	ENSP00000337313:S597F	S	-	2	0	ZCCHC8	121524331	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.062000	0.11674	-0.497000	0.06641	0.637000	0.83480	TCC		0.488	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017612		52	201	0	0	0	0.139131	0	52	201		
ATP6V0A2	23545	broad.mit.edu	37	12	124236904	124236904	+	Silent	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:124236904A>T	ENST00000330342.3	+	17	2378	c.2130A>T	c.(2128-2130)ggA>ggT	p.G710G	ATP6V0A2_ENST00000544833.1_5'Flank	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	710					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TAGAAGAGGGAAATCACCAGG	0.398																																						uc001ufr.2		NaN																	0				ovary(2)	2						c.(2128-2130)GGA>GGT		ATPase, H+ transporting, lysosomal V0 subunit							126.0	126.0	126.0					12																	124236904		2203	4300	6503	SO:0001819	synonymous_variant	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124236904A>T	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2130A>T	12.37:g.124236904A>T							p.G710G	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	17	2378	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		710			Cytoplasmic (Potential).		A8K026|Q6NUM0	Silent	SNP	ENST00000330342.3	37	c.2130A>T	CCDS9254.1																																																																																				0.398	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2		NM_012463		12	48	0	0	0	0.09319	0	12	48		
POLE	5426	broad.mit.edu	37	12	133210898	133210898	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr12:133210898C>G	ENST00000320574.5	-	43	5921	c.5878G>C	c.(5878-5880)Gat>Cat	p.D1960H	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.D1933H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1960					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	tcctccccatctctttcctcc	0.522								DNA polymerases (catalytic subunits)																														uc001uks.1		NaN																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(5878-5880)GAT>CAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							217.0	181.0	193.0					12																	133210898		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133210898C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5878G>C	12.37:g.133210898C>G	ENSP00000322570:p.Asp1960His					POLE_uc001ukq.1_Missense_Mutation_p.D170H|POLE_uc001ukr.1_Missense_Mutation_p.D764H|POLE_uc010tbq.1_RNA	p.D1960H	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	43	5922	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1960					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5878G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	9.828	1.187666	0.21870	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.46451	0.87;0.87;0.87	4.49	3.58	0.41010	.	1.782700	0.02545	N	0.095049	T	0.32823	0.0842	N	0.08118	0	0.09310	N	1	B;B	0.34264	0.196;0.446	B;B	0.34418	0.059;0.182	T	0.51124	-0.8745	10	0.49607	T	0.09	.	15.1876	0.73016	0.0:0.9209:0.0:0.0791	.	1960;170	Q07864;B3KS74	DPOE1_HUMAN;.	H	170;1960;1971;1933	ENSP00000322570:D1960H;ENSP00000406383:D1971H;ENSP00000445753:D1933H	ENSP00000322570:D1960H	D	-	1	0	POLE	131720971	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	1.128000	0.31369	0.337000	0.23665	-1.134000	0.01955	GAT		0.522	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2		NM_006231		17	62	0	0	0	0.038395	0	17	62		
RNF6	6049	broad.mit.edu	37	13	26793668	26793668	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:26793668T>C	ENST00000381588.4	-	3	871	c.119A>G	c.(118-120)tAt>tGt	p.Y40C	RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.Y40C|RNF6_ENST00000381570.3_Missense_Mutation_p.Y40C|RNF6_ENST00000399762.2_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	40					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AAACTGATAATAGGCCTCTTC	0.408																																						uc001uqo.2		NaN																	0				ovary(1)|skin(1)	2						c.(118-120)TAT>TGT		ring finger protein 6							158.0	150.0	153.0					13																	26793668		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26793668T>C	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.119A>G	13.37:g.26793668T>C	ENSP00000371000:p.Tyr40Cys					RNF6_uc001uqn.1_Missense_Mutation_p.Y40C|RNF6_uc010aak.2_Missense_Mutation_p.Y40C|RNF6_uc001uqp.2_Missense_Mutation_p.Y40C|RNF6_uc001uqq.2_Missense_Mutation_p.Y40C|RNF6_uc010tdk.1_5'UTR	p.Y40C	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	3	410	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	40					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.119A>G	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.621298	0.66787	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.08634	3.07;3.07;3.07	5.08	3.87	0.44632	.	0.071226	0.64402	D	0.000017	T	0.20577	0.0495	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.59761	0.858;0.863	T	0.00428	-1.1745	10	0.87932	D	0	-16.2076	9.8031	0.40777	0.1652:0.0:0.0:0.8348	.	40;40	Q9Y252;Q9BZP5	RNF6_HUMAN;.	C	40	ENSP00000342121:Y40C;ENSP00000371000:Y40C;ENSP00000370982:Y40C	ENSP00000342121:Y40C	Y	-	2	0	RNF6	25691668	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	2.873000	0.48475	0.920000	0.36970	-0.438000	0.05819	TAT		0.408	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2		NM_005977		29	67	0	0	0	0.116897	0	29	67		
SLC46A3	283537	broad.mit.edu	37	13	29287107	29287107	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:29287107C>T	ENST00000266943.6	-	3	1139	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R257Q	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	257					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GAGCAAAAATCGTCTCTTACC	0.338																																						uc001usi.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(769-771)CGA>CAA		solute carrier family 46, member 3 isoform a							47.0	48.0	47.0					13																	29287107		2203	4300	6503	SO:0001583	missense	283537				transmembrane transport	integral to membrane		g.chr13:29287107C>T		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.770G>A	13.37:g.29287107C>T	ENSP00000266943:p.Arg257Gln					SLC46A3_uc001usg.2_Missense_Mutation_p.R182Q|SLC46A3_uc001usj.2_Missense_Mutation_p.R257Q|SLC46A3_uc001ush.2_Missense_Mutation_p.R257Q|SLC46A3_uc001usk.2_Missense_Mutation_p.R182Q	p.R257Q	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	2	1740	-		Lung SC(185;0.0367)	257			Cytoplasmic (Potential).		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	c.770G>A	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	C	7.250	0.602951	0.13939	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.58060	0.36;0.36	5.63	2.93	0.34026	Major facilitator superfamily domain, general substrate transporter (1);	0.248894	0.37761	N	0.001953	T	0.35770	0.0943	L	0.34521	1.04	0.09310	N	1	P;B;B	0.37573	0.6;0.36;0.413	B;B;B	0.26094	0.066;0.019;0.033	T	0.11203	-1.0597	10	0.46703	T	0.11	-4.5416	12.1095	0.53831	0.0:0.8134:0.0:0.1866	.	182;257;257	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	Q	257	ENSP00000266943:R257Q;ENSP00000370192:R257Q	ENSP00000266943:R257Q	R	-	2	0	SLC46A3	28185107	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.365000	0.20348	0.395000	0.25257	0.655000	0.94253	CGA		0.338	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1		NM_181785		9	27	0	0	0	0.047766	0	9	27		
DGKH	160851	broad.mit.edu	37	13	42623082	42623082	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:42623082C>G	ENST00000337343.4	+	1	194	c.173C>G	c.(172-174)tCg>tGg	p.S58W	DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.S58W|DGKH_ENST00000261491.5_Missense_Mutation_p.S58W	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	58					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTGTCTACCTCGGGGCAGATC	0.706																																						uc001uyl.1		NaN																	0				ovary(2)	2						c.(172-174)TCG>TGG		diacylglycerol kinase, eta isoform 2							14.0	14.0	14.0					13																	42623082		2195	4291	6486	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42623082C>G	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.173C>G	13.37:g.42623082C>G	ENSP00000337572:p.Ser58Trp					DGKH_uc010tfh.1_Missense_Mutation_p.S58W|DGKH_uc001uym.1_Missense_Mutation_p.S58W	p.S58W	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	1	194	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	58					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.173C>G	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870743	0.72065	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491	T;T;T	0.81330	-1.48;-1.29;-1.48	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000017	D	0.87030	0.6076	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.88888	0.3344	10	0.87932	D	0	.	17.0054	0.86391	0.0:1.0:0.0:0.0	.	58;58	Q86XP1-2;Q86XP1	.;DGKH_HUMAN	W	58	ENSP00000440823:S58W;ENSP00000337572:S58W;ENSP00000261491:S58W	ENSP00000261491:S58W	S	+	2	0	DGKH	41521082	1.000000	0.71417	0.991000	0.47740	0.473000	0.32948	6.581000	0.74045	2.074000	0.62210	0.305000	0.20034	TCG		0.706	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2		NM_178009		2	6	0	0	0	0.115264	0	2	6		
PCDH20	64881	broad.mit.edu	37	13	61987145	61987145	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:61987145C>T	ENST00000409186.1	-	5	3192	c.1087G>A	c.(1087-1089)Gtt>Att	p.V363I	PCDH20_ENST00000409204.4_Missense_Mutation_p.V363I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	363	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GCTTGTGGAACTTTCTGACTG	0.433																																						uc001vid.3		NaN																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1087-1089)GTT>ATT		protocadherin 20							106.0	106.0	106.0					13																	61987145		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987145C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1087G>A	13.37:g.61987145C>T	ENSP00000386653:p.Val363Ile					PCDH20_uc010thj.1_Missense_Mutation_p.V363I	p.V363I	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	1451	-		Breast(118;0.195)|Prostate(109;0.229)	336			Cadherin 3.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1087G>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108604	0.56291	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.51071	0.72;0.72	5.68	5.68	0.88126	.	0.000000	0.56097	D	0.000038	T	0.51975	0.1706	L	0.38175	1.15	0.58432	D	0.999998	D	0.52996	0.957	P	0.51453	0.67	T	0.42548	-0.9445	10	0.36615	T	0.2	.	19.7892	0.96452	0.0:1.0:0.0:0.0	.	363	A8K1K9	.	I	363;363;109	ENSP00000387250:V363I;ENSP00000386653:V363I	ENSP00000351500:V109I	V	-	1	0	PCDH20	60885146	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.579000	0.60936	2.691000	0.91804	0.655000	0.94253	GTT		0.433	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2		NM_022843		31	76	0	0	0	0.144211	0	31	76		
LMO7	4008	broad.mit.edu	37	13	76427499	76427499	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:76427499C>A	ENST00000321797.8	+	26	4658	c.3937C>A	c.(3937-3939)Cag>Aag	p.Q1313K	LMO7_ENST00000357063.3_Missense_Mutation_p.Q1598K|LMO7_ENST00000526202.1_Missense_Mutation_p.Q1190K|LMO7_ENST00000377534.3_Missense_Mutation_p.Q1598K|LMO7_ENST00000341547.4_Missense_Mutation_p.Q1264K|LMO7_ENST00000465261.2_Missense_Mutation_p.Q1313K			Q8WWI1	LMO7_HUMAN	LIM domain 7	1598					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCAGCTTCACAGTCAGGCTC	0.542																																						uc001vjv.2		NaN																	0				large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(3937-3939)CAG>AAG		LIM domain only 7 isoform 2							48.0	42.0	44.0					13																	76427499		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76427499C>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3937C>A	13.37:g.76427499C>A	ENSP00000317802:p.Gln1313Lys					LMO7_uc010thv.1_Missense_Mutation_p.Q1264K|LMO7_uc010thw.1_Missense_Mutation_p.Q1190K	p.Q1313K	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	25	4697	+		Breast(118;0.0992)	1598					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.3937C>A		.	.	.	.	.	.	.	.	.	.	C	19.61	3.860768	0.71834	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.44	4.6	0.57074	.	0.143676	0.47455	D	0.000230	T	0.47266	0.1436	M	0.76002	2.32	0.09310	N	1	P;P;P	0.40731	0.455;0.728;0.455	B;B;B	0.35413	0.1;0.202;0.081	T	0.49031	-0.8981	10	0.49607	T	0.09	-1.8599	14.1065	0.65093	0.0:0.9275:0.0:0.0725	.	1190;1264;1313	E9PMS6;Q8WWI1-3;E9PLH4	.;.;.	K	1264;1598;1598;1313;1190;1313	ENSP00000342112:Q1264K;ENSP00000349571:Q1598K;ENSP00000366757:Q1598K;ENSP00000317802:Q1313K;ENSP00000431129:Q1190K;ENSP00000433352:Q1313K	ENSP00000317802:Q1313K	Q	+	1	0	LMO7	75325500	0.872000	0.30054	0.012000	0.15200	0.498000	0.33706	2.555000	0.45854	1.290000	0.44636	0.555000	0.69702	CAG		0.542	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3		NM_005358		11	37	1	0	7.03913e-09	0.09319	8.16318e-09	11	37		
MYCBP2	23077	broad.mit.edu	37	13	77825302	77825302	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr13:77825302C>T	ENST00000544440.2	-	15	2268	c.2251G>A	c.(2251-2253)Gac>Aac	p.D751N	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D751N|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D789N					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGGACTCTGTCTGGCCGTCCA	0.468																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(2251-2253)GAC>AAC		MYC binding protein 2							78.0	69.0	72.0					13																	77825302		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77825302C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2251G>A	13.37:g.77825302C>T	ENSP00000444596:p.Asp751Asn					MYCBP2_uc010aev.2_Missense_Mutation_p.D155N	p.D751N	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	16	2342	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	751			Cys-rich.			Missense_Mutation	SNP	ENST00000544440.2	37	c.2251G>A		.	.	.	.	.	.	.	.	.	.	C	28.4	4.918438	0.92249	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28454	1.61;1.61;1.61	5.53	5.53	0.82687	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	L	0.36672	1.1	0.80722	D	1	B	0.29531	0.247	B	0.27262	0.078	T	0.02844	-1.1103	10	0.36615	T	0.2	.	19.4593	0.94910	0.0:1.0:0.0:0.0	.	751	O75592	MYCB2_HUMAN	N	751;789;751	ENSP00000349892:D751N;ENSP00000384288:D789N;ENSP00000444596:D751N	ENSP00000349892:D751N	D	-	1	0	MYCBP2	76723303	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.818000	0.86416	2.585000	0.87301	0.563000	0.77884	GAC		0.468	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		15	42	0	0	0	0.0333	0	15	42		
OR11H12	440153	broad.mit.edu	37	14	19377844	19377844	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:19377844T>C	ENST00000550708.1	+	1	323	c.251T>C	c.(250-252)tTa>tCa	p.L84S		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTCCTTTTTAGAGATATGG	0.418																																						uc010tkp.1		NaN																	0				ovary(2)	2						c.(250-252)TTA>TCA		olfactory receptor, family 11, subfamily H,							35.0	43.0	40.0					14																	19377844		1798	3750	5548	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377844T>C		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.251T>C	14.37:g.19377844T>C	ENSP00000449002:p.Leu84Ser						p.L84S	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	251	+	all_cancers(95;0.00108)		84			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000550708.1	37	c.251T>C	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	t	9.498	1.102392	0.20632	.	.	ENSG00000257115	ENST00000550708	T	0.14766	2.48	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33075	N	0.005304	T	0.27967	0.0689	M	0.71920	2.185	0.23930	N	0.996439	D	0.89917	1.0	D	0.74674	0.984	T	0.28618	-1.0038	9	0.66056	D	0.02	.	5.5303	0.16980	0.0:1.0E-4:0.0:0.9999	.	84	B2RN74	O11HC_HUMAN	S	84	ENSP00000449002:L84S	ENSP00000449002:L84S	L	+	2	0	CR383656.1	18447844	0.001000	0.12720	0.994000	0.49952	0.292000	0.27327	1.211000	0.32382	0.518000	0.28383	0.055000	0.15244	TTA		0.418	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1		NM_001013354		67	120	0	0	0	0.139131	0	67	120		
DDHD1	80821	broad.mit.edu	37	14	53539349	53539349	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:53539349A>C	ENST00000323669.5	-	6	1468	c.1469T>G	c.(1468-1470)aTa>aGa	p.I490R	DDHD1_ENST00000357758.3_Missense_Mutation_p.I490R|DDHD1_ENST00000395606.1_Missense_Mutation_p.I497R	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	490					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATAATACATTATGTCCATTGC	0.338																																						uc001xai.2		NaN																	0				ovary(2)	2						c.(1468-1470)ATA>AGA		DDHD domain containing 1 isoform c							128.0	116.0	120.0					14																	53539349		2203	4298	6501	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53539349A>C	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1469T>G	14.37:g.53539349A>C	ENSP00000327104:p.Ile490Arg					DDHD1_uc001xaj.2_Missense_Mutation_p.I497R|DDHD1_uc001xah.2_Missense_Mutation_p.I490R|DDHD1_uc001xag.2_Missense_Mutation_p.I72R	p.I490R	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			6	1699	-	Breast(41;0.037)		490					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.1469T>G	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543074	0.86022	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.58506	0.33;0.33;0.33	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.991	D	0.84904	0.0844	10	0.87932	D	0	-19.5628	15.9601	0.79923	1.0:0.0:0.0:0.0	.	497;490;490	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	R	490;497;490;361	ENSP00000327104:I490R;ENSP00000378970:I497R;ENSP00000350401:I490R	ENSP00000327104:I490R	I	-	2	0	DDHD1	52609099	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.740000	0.91579	2.311000	0.77944	0.533000	0.62120	ATA		0.338	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1				17	52	0	0	0	0.0333	0	17	52		
SAMD4A	23034	broad.mit.edu	37	14	55203778	55203778	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:55203778G>C	ENST00000554335.1	+	4	1415	c.752G>C	c.(751-753)cGa>cCa	p.R251P	SAMD4A_ENST00000357634.3_Missense_Mutation_p.R250P|SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R251P			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	251					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CCTTTGAAACGATCTGTGTCC	0.502																																						uc001xbb.2		NaN																	0					0						c.(748-750)CGA>CCA		sterile alpha motif domain containing 4 isoform							167.0	167.0	167.0					14																	55203778		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55203778G>C	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.752G>C	14.37:g.55203778G>C	ENSP00000452535:p.Arg251Pro					SAMD4A_uc001xbc.2_Intron	p.R250P	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN			3	750	+			251					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.749G>C	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098079	0.76870	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000357634	.	.	.	5.44	5.44	0.79542	.	0.261722	0.30446	N	0.009619	T	0.64929	0.2643	L	0.58101	1.795	0.80722	D	1	D	0.60575	0.988	P	0.49047	0.599	T	0.68895	-0.5288	9	0.87932	D	0	-5.7535	19.4568	0.94895	0.0:0.0:1.0:0.0	.	251	Q9UPU9	SMAG1_HUMAN	P	251;251;250	.	ENSP00000350261:R250P	R	+	2	0	SAMD4A	54273528	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.209000	0.72171	2.832000	0.97577	0.655000	0.94253	CGA		0.502	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1		NM_015589		69	135	0	0	0	0.139131	0	69	135		
EIF2B2	8892	broad.mit.edu	37	14	75469786	75469786	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:75469786C>T	ENST00000266126.5	+	1	173	c.93C>T	c.(91-93)tcC>tcT	p.S31S	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	31					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CGCGCAGCTCCGAGGAAATGG	0.667																																						uc001xrc.1		NaN																	0				ovary(1)	1						c.(91-93)TCC>TCT		eukaryotic translation initiation factor 2B,							38.0	41.0	40.0					14																	75469786		2203	4300	6503	SO:0001819	synonymous_variant	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75469786C>T		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.93C>T	14.37:g.75469786C>T							p.S31S	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	1	175	+			31					O43201	Silent	SNP	ENST00000266126.5	37	c.93C>T	CCDS9836.1																																																																																				0.667	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1		NM_014239		19	39	0	0	0	0.043863	0	19	39		
NOXRED1	122945	broad.mit.edu	37	14	77861083	77861083	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:77861083G>C	ENST00000380835.2	-	6	1137	c.971C>G	c.(970-972)tCa>tGa	p.S324*		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	324					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGGACTACTTGAGAGATGCTG	0.443																																						uc001xtr.2		NaN																	0					0						c.(970-972)TCA>TGA		hypothetical protein LOC122945 isoform 1							128.0	116.0	120.0					14																	77861083		1568	3582	5150	SO:0001587	stop_gained	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77861083G>C	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.971C>G	14.37:g.77861083G>C	ENSP00000370215:p.Ser324*						p.S324*	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	6	1118	-			324					B3KQ47|O95435	Nonsense_Mutation	SNP	ENST00000380835.2	37	c.971C>G	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373479	0.61624	.	.	ENSG00000165555	ENST00000380835	.	.	.	5.14	1.89	0.25635	.	0.826137	0.10684	N	0.645993	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.2337	4.8201	0.13387	0.0994:0.1401:0.6175:0.143	.	.	.	.	X	324	.	ENSP00000370215:S324X	S	-	2	0	C14orf148	76930836	0.160000	0.22878	0.005000	0.12908	0.072000	0.16883	1.483000	0.35497	1.015000	0.39444	0.563000	0.77884	TCA		0.443	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1		NM_138791		14	60	0	0	0	0.132662	0	14	60		
GALC	2581	broad.mit.edu	37	14	88411957	88411957	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:88411957C>T	ENST00000261304.2	-	14	1716	c.1610G>A	c.(1609-1611)aGa>aAa	p.R537K	GALC_ENST00000393569.2_Missense_Mutation_p.R511K|GALC_ENST00000544807.2_Missense_Mutation_p.R481K|GALC_ENST00000393568.4_Missense_Mutation_p.R514K	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	537					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTAATGGGTCTCTGGTTGAG	0.428																																						uc001xvt.2		NaN																	0					0						c.(1609-1611)AGA>AAA		galactosylceramidase isoform a precursor							119.0	116.0	117.0					14																	88411957		1888	4101	5989	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88411957C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1610G>A	14.37:g.88411957C>T	ENSP00000261304:p.Arg537Lys					GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Missense_Mutation_p.R511K|GALC_uc010tvy.1_Missense_Mutation_p.R514K|GALC_uc010tvz.1_Missense_Mutation_p.R481K	p.R537K	NM_000153	NP_000144	P54803	GALC_HUMAN			14	2009	-			537					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1610G>A	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880713	0.51801	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.36	5.36	0.76844	.	0.052529	0.85682	D	0.000000	D	0.95847	0.8648	M	0.67517	2.055	0.80722	D	1	D;D;P;P	0.55800	0.964;0.973;0.938;0.904	P;P;P;P	0.56563	0.695;0.801;0.55;0.581	D	0.93919	0.7204	10	0.21540	T	0.41	-13.4662	19.434	0.94783	0.0:1.0:0.0:0.0	.	481;514;511;537	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	K	537;481;511;326;514	ENSP00000261304:R537K;ENSP00000437513:R481K;ENSP00000377199:R511K;ENSP00000377198:R514K	ENSP00000261304:R537K	R	-	2	0	GALC	87481710	1.000000	0.71417	0.055000	0.19348	0.084000	0.17831	5.899000	0.69846	2.685000	0.91497	0.585000	0.79938	AGA		0.428	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2				45	93	0	0	0	0.139131	0	45	93		
MOAP1	64112	broad.mit.edu	37	14	93649993	93649993	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:93649993C>A	ENST00000556883.1	-	2	1079	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	TMEM251_ENST00000283534.4_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.D199Y|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000415050.2_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	199					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttctctacatctggcacctgc	0.473																																						uc001ybj.2		NaN																	0				skin(2)|ovary(1)	3						c.(595-597)GAT>TAT		modulator of apoptosis 1							59.0	67.0	65.0					14																	93649993		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93649993C>A	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.595G>T	14.37:g.93649993C>A	ENSP00000451594:p.Asp199Tyr					C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	p.D199Y	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	3	965	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	199					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.595G>T	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079488	0.55753	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.13901	2.55;2.55	3.78	2.89	0.33648	.	.	.	.	.	T	0.25457	0.0619	L	0.44542	1.39	0.32021	N	0.600847	D	0.89917	1.0	D	0.91635	0.999	T	0.16424	-1.0403	9	0.87932	D	0	-9.5999	7.21	0.25929	0.0:0.8807:0.0:0.1193	.	199	Q96BY2	MOAP1_HUMAN	Y	199	ENSP00000298894:D199Y;ENSP00000451594:D199Y	ENSP00000298894:D199Y	D	-	1	0	MOAP1	92719746	0.163000	0.22920	0.899000	0.35326	0.889000	0.51656	0.691000	0.25467	1.182000	0.42928	0.650000	0.86243	GAT		0.473	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1				28	103	1	0	1.5548e-18	0.108266	1.85155e-18	28	103		
PPP4R4	57718	broad.mit.edu	37	14	94732160	94732160	+	Missense_Mutation	SNP	C	C	G	rs147765941		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:94732160C>G	ENST00000304338.3	+	22	2468	c.2314C>G	c.(2314-2316)Cga>Gga	p.R772G		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	772					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.R772*(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CAAACTGATTCGAAGCCAGTC	0.368																																						uc001ycs.1		NaN																	1	Substitution - Nonsense(1)		skin(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(2314-2316)CGA>GGA		HEAT-like repeat-containing protein isoform 1							88.0	90.0	90.0					14																	94732160		2202	4300	6502	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94732160C>G	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2314C>G	14.37:g.94732160C>G	ENSP00000305924:p.Arg772Gly						p.R772G	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			22	2468	+			772					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.2314C>G	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540382	0.65085	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.39	4.42	0.53409	.	0.317552	0.28241	N	0.016061	T	0.76637	0.4015	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.79032	-0.1969	9	0.66056	D	0.02	-3.0727	16.8395	0.85964	0.1372:0.8627:0.0:0.0	.	772	Q6NUP7	PP4R4_HUMAN	G	772	.	ENSP00000305924:R772G	R	+	1	2	PPP4R4	93801913	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.915000	0.56409	2.547000	0.85894	0.644000	0.83932	CGA		0.368	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1		NM_058237		12	111	0	0	0	0.080935	0	12	111		
DICER1	23405	broad.mit.edu	37	14	95562205	95562205	+	Silent	SNP	G	G	A	rs145027662		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:95562205G>A	ENST00000526495.1	-	25	5343	c.5052C>T	c.(5050-5052)ctC>ctT	p.L1684L	DICER1_ENST00000527414.1_Silent_p.L1684L|DICER1_ENST00000556045.1_Silent_p.L582L|DICER1_ENST00000343455.3_Silent_p.L1684L|DICER1_ENST00000393063.1_Silent_p.L1684L|DICER1_ENST00000541352.1_Silent_p.L1684L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1684	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAAAAGCCTGGAGAAGGTAAG	0.393			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NaN	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(5050-5052)CTC>CTT		dicer1							90.0	88.0	88.0					14																	95562205		2203	4300	6503	SO:0001819	synonymous_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95562205G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5052C>T	14.37:g.95562205G>A						DICER1_uc010avh.1_Silent_p.L582L|DICER1_uc001ydv.2_Silent_p.L1674L|DICER1_uc001ydx.2_Silent_p.L1684L|DICER1_uc001ydy.1_Silent_p.L536L	p.L1684L	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	24	5234	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1684			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.5052C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	5.612	0.297718	0.10622	.	.	ENSG00000100697	ENST00000532939	.	.	.	5.78	-11.6	0.00059	.	.	.	.	.	T	0.32346	0.0826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42378	-0.9455	4	.	.	.	-13.5423	2.8645	0.05597	0.1936:0.0962:0.3865:0.3237	.	.	.	.	S	363	.	.	P	-	1	0	DICER1	94631958	0.582000	0.26749	0.679000	0.29978	0.995000	0.86356	-0.198000	0.09505	-1.725000	0.01371	-0.284000	0.09977	CCA		0.393	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1				31	45	0	0	0	0.045705	0	31	45		
SLC25A47	283600	broad.mit.edu	37	14	100793638	100793638	+	Silent	SNP	C	C	T	rs147080547		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr14:100793638C>T	ENST00000361529.3	+	4	336	c.258C>T	c.(256-258)taC>taT	p.Y86Y	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	86					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGCTCCGGTACGGCAACCCTG	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18680	0.0		0.0	False		,,,				2504	0.0				GBM(11;1289 1351)	uc001yhc.2		NaN																	0					0						c.(256-258)TAC>TAT		chromosome 14 open reading frame 68		C		2,4404	4.2+/-10.8	0,2,2201	92.0	89.0	90.0		258	-3.9	0.7	14	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	SLC25A47	NM_207117.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		86/309	100793638	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100793638C>T		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.258C>T	14.37:g.100793638C>T						C14orf68_uc001yhd.2_Translation_Start_Site	p.Y86Y	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			4	331	+		Melanoma(154;0.152)	86					B2RP39|Q68CL2|Q6PZD8|Q86U14	Silent	SNP	ENST00000361529.3	37	c.258C>T	CCDS9959.1																																																																																				0.687	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1				7	122	0	0	0	0.047766	0	7	122		
SPRED1	161742	broad.mit.edu	37	15	38643647	38643647	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:38643647G>A	ENST00000299084.4	+	7	1977	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	373	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTCTGTGCAGAGAGCATGTT	0.423									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	uc001zka.3		NaN																	0				ovary(2)|lung(2)|skin(1)	5						c.(1117-1119)GAG>AAG		sprouty-related protein 1 with EVH-1 domain							210.0	192.0	198.0					15																	38643647		2200	4297	6497	SO:0001583	missense	161742	Legius_syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38643647G>A	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.1117G>A	15.37:g.38643647G>A	ENSP00000299084:p.Glu373Lys						p.E373K	NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	7	1452	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	373			SPR.		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.1117G>A	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645472	0.87859	.	.	ENSG00000166068	ENST00000299084	T	0.62105	0.05	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	N	0.21194	0.64	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.61476	-0.7055	10	0.17832	T	0.49	-24.0713	20.5705	0.99360	0.0:0.0:1.0:0.0	.	373	Q7Z699	SPRE1_HUMAN	K	373	ENSP00000299084:E373K	ENSP00000299084:E373K	E	+	1	0	SPRED1	36430939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.856000	0.99531	2.872000	0.98467	0.560000	0.71715	GAG		0.423	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1				42	104	0	0	0	0.086207	0	42	104		
DISP2	85455	broad.mit.edu	37	15	40659556	40659556	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:40659556C>G	ENST00000267889.3	+	8	1330	c.1243C>G	c.(1243-1245)Ctg>Gtg	p.L415V	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	415					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTGCACTTTCTGCTTGACAG	0.587																																						uc001zlk.1		NaN																	0				ovary(2)	2						c.(1243-1245)CTG>GTG		dispatched B							207.0	224.0	218.0					15																	40659556		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40659556C>G	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1243C>G	15.37:g.40659556C>G	ENSP00000267889:p.Leu415Val						p.L415V	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	1332	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	415					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.1243C>G	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366905	0.61513	.	.	ENSG00000140323	ENST00000267889	T	0.18502	2.21	4.86	2.92	0.33932	.	0.000000	0.64402	D	0.000001	T	0.19446	0.0467	M	0.83483	2.645	0.58432	D	0.999999	P	0.38195	0.622	B	0.36534	0.227	T	0.03374	-1.1043	10	0.59425	D	0.04	-10.4888	3.0113	0.06045	0.1458:0.5467:0.1415:0.1661	.	415	A7MBM2	DISP2_HUMAN	V	415	ENSP00000267889:L415V	ENSP00000267889:L415V	L	+	1	2	DISP2	38446848	0.914000	0.31030	0.981000	0.43875	0.977000	0.68977	0.956000	0.29202	0.623000	0.30267	0.561000	0.74099	CTG		0.587	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1		NM_033510		86	276	0	0	0	0.139131	0	86	276		
ONECUT1	3175	broad.mit.edu	37	15	53081070	53081070	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:53081070T>C	ENST00000305901.5	-	1	1139	c.1012A>G	c.(1012-1014)Agc>Ggc	p.S338G	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	338					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TTGAGTTTGCTCCAGGGTTTG	0.652																																						uc002aci.1		NaN																	0					0						c.(1012-1014)AGC>GGC		one cut homeobox 1							67.0	66.0	66.0					15																	53081070		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081070T>C	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1012A>G	15.37:g.53081070T>C	ENSP00000302630:p.Ser338Gly						p.S338G	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	1140	-			338			CUT.		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.1012A>G	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.315267	0.40996	.	.	ENSG00000169856	ENST00000305901	T	0.50813	0.73	4.6	4.6	0.57074	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.107907	0.64402	D	0.000005	T	0.63331	0.2502	L	0.58302	1.8	0.80722	D	1	D	0.56521	0.976	D	0.74674	0.984	T	0.66312	-0.5955	10	0.66056	D	0.02	-17.1363	12.9649	0.58478	0.0:0.0:0.0:1.0	.	338	Q9UBC0	HNF6_HUMAN	G	338	ENSP00000302630:S338G	ENSP00000302630:S338G	S	-	1	0	ONECUT1	50868362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.974000	0.63771	1.918000	0.55548	0.421000	0.28195	AGC		0.652	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2				19	44	0	0	0	0.062417	0	19	44		
ZNF280D	54816	broad.mit.edu	37	15	56950642	56950642	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:56950642C>T	ENST00000267807.7	-	17	2253	c.2037G>A	c.(2035-2037)aaG>aaA	p.K679K	ZNF280D_ENST00000396245.1_Silent_p.K383K|ZNF280D_ENST00000559237.1_Silent_p.K666K|ZNF280D_ENST00000559000.1_Silent_p.K666K	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CTGAATGCTTCTTAAAAATAC	0.259																																						uc002adu.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2035-2037)AAG>AAA		suppressor of hairy wing homolog 4 isoform 1							51.0	57.0	55.0					15																	56950642		2189	4287	6476	SO:0001819	synonymous_variant	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56950642C>T	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2037G>A	15.37:g.56950642C>T						ZNF280D_uc002adv.2_Silent_p.K666K|ZNF280D_uc010bfq.2_Silent_p.K679K|ZNF280D_uc002adw.1_Silent_p.K707K|ZNF280D_uc010bfp.2_RNA	p.K679K	NM_017661	NP_060131	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	17	2254	-			679					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	ENST00000267807.7	37	c.2037G>A	CCDS32245.1																																																																																				0.259	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2		XM_370867		5	38	0	0	0	0.02938	0	5	38		
FAM96A	84191	broad.mit.edu	37	15	64380955	64380955	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:64380955C>T	ENST00000300030.3	-	2	469	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	FAM96A_ENST00000557835.1_Missense_Mutation_p.E74K|FAM96A_ENST00000380290.3_Missense_Mutation_p.E74K|FAM96A_ENST00000559950.1_Missense_Mutation_p.E74K	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	74					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TATTCTTCTTCATTTATCTCC	0.378																																						uc002amt.1		NaN																	0					0						c.(220-222)GAA>AAA		family with sequence similarity 96, member A							88.0	80.0	82.0					15																	64380955		2203	4300	6503	SO:0001583	missense	84191				chromosome segregation			g.chr15:64380955C>T		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.220G>A	15.37:g.64380955C>T	ENSP00000300030:p.Glu74Lys					FAM96A_uc002amu.1_Missense_Mutation_p.E74K|FAM96A_uc010uin.1_Missense_Mutation_p.E74K	p.E74K	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN			2	460	-			74					A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	37	c.220G>A	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090800	0.76756	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.78	5.78	0.91487	Domain of unknown function DUF59 (1);	0.106860	0.64402	N	0.000006	T	0.62024	0.2394	L	0.47016	1.485	0.53688	D	0.999979	B;B	0.29552	0.248;0.019	B;B	0.35770	0.21;0.026	T	0.60939	-0.7163	9	0.52906	T	0.07	-30.8986	17.573	0.87940	0.0:1.0:0.0:0.0	.	74;74	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	K	74	.	ENSP00000300030:E74K	E	-	1	0	FAM96A	62168008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.703000	0.68340	2.735000	0.93741	0.650000	0.86243	GAA		0.378	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1		NM_032231		8	45	0	0	0	0.047766	0	8	45		
FAM96A	84191	broad.mit.edu	37	15	64381003	64381003	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:64381003C>T	ENST00000300030.3	-	2	421	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	FAM96A_ENST00000557835.1_Missense_Mutation_p.E58K|FAM96A_ENST00000380290.3_Missense_Mutation_p.E58K|FAM96A_ENST00000559950.1_Missense_Mutation_p.E58K	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	58					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E58K(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ACTTCCAGTTCTTCTAAAGTA	0.363																																						uc002amt.1		NaN																	1	Substitution - Missense(1)		prostate(1)		0						c.(172-174)GAA>AAA		family with sequence similarity 96, member A							75.0	71.0	73.0					15																	64381003		2203	4300	6503	SO:0001583	missense	84191				chromosome segregation			g.chr15:64381003C>T		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.172G>A	15.37:g.64381003C>T	ENSP00000300030:p.Glu58Lys					FAM96A_uc002amu.1_Missense_Mutation_p.E58K|FAM96A_uc010uin.1_Missense_Mutation_p.E58K	p.E58K	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN			2	412	-			58					A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	37	c.172G>A	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364490	0.95877	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.78	5.78	0.91487	Domain of unknown function DUF59 (1);	0.052525	0.85682	D	0.000000	T	0.80276	0.4593	M	0.83312	2.635	0.58432	D	0.999998	D;P	0.63046	0.992;0.749	D;P	0.65684	0.937;0.492	T	0.81052	-0.1107	9	0.51188	T	0.08	-20.5712	17.573	0.87940	0.0:1.0:0.0:0.0	.	58;58	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	K	58	.	ENSP00000300030:E58K	E	-	1	0	FAM96A	62168056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.735000	0.93741	0.650000	0.86243	GAA		0.363	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1		NM_032231		11	59	0	0	0	0.105934	0	11	59		
IQCH	64799	broad.mit.edu	37	15	67649729	67649729	+	Silent	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:67649729G>C	ENST00000335894.4	+	7	750	c.684G>C	c.(682-684)gtG>gtC	p.V228V	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_Silent_p.V55V	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	228										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAGCAGAAGTGAAGTTCTTTC	0.383																																						uc002aqo.1		NaN																	0				skin(3)|ovary(1)	4						c.(682-684)GTG>GTC		IQ motif containing H isoform 1							105.0	96.0	99.0					15																	67649729		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67649729G>C	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.684G>C	15.37:g.67649729G>C						IQCH_uc010ujv.1_Silent_p.V60V|IQCH_uc002aqn.1_Silent_p.V55V|IQCH_uc002aqq.1_5'UTR|IQCH_uc002aqp.1_5'UTR	p.V228V	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	7	731	+			228					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.684G>C	CCDS32273.1																																																																																				0.383	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1		NM_022784		10	44	0	0	0	0.080935	0	10	44		
NOX5	79400	broad.mit.edu	37	15	69320560	69320560	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:69320560C>G	ENST00000388866.3	+	3	221	c.180C>G	c.(178-180)ttC>ttG	p.F60L	NOX5_ENST00000455873.3_Missense_Mutation_p.F53L|NOX5_ENST00000448182.3_Missense_Mutation_p.F42L|NOX5_ENST00000260364.5_Missense_Mutation_p.F42L|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.F60L	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	60	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CACAGTCCTTCTTTGCAGAGC	0.577																																						uc002ars.1		NaN																	0				breast(1)|pancreas(1)	2						c.(178-180)TTC>TTG		NADPH oxidase, EF-hand calcium binding domain 5							187.0	156.0	167.0					15																	69320560		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69320560C>G	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.180C>G	15.37:g.69320560C>G	ENSP00000373518:p.Phe60Leu					NOX5_uc002arp.1_Missense_Mutation_p.F42L|NOX5_uc002arq.1_Missense_Mutation_p.F42L|NOX5_uc010bid.1_Missense_Mutation_p.F53L|NOX5_uc002arr.1_Missense_Mutation_p.F60L|NOX5_uc010bie.1_5'UTR	p.F60L	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			3	200	+			60			Cytoplasmic (Potential).|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.|EF-hand 2.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.180C>G	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872040	0.33069	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T;T	0.66638	-0.22;-0.22;1.64;-0.22	3.36	3.36	0.38483	EF-hand-like domain (1);	0.060624	0.64402	N	0.000003	T	0.50034	0.1592	L	0.42581	1.335	0.58432	D	0.999995	B;B;B	0.22414	0.069;0.041;0.069	B;B;B	0.25140	0.058;0.026;0.058	T	0.37619	-0.9698	10	0.02654	T	1	-3.6936	7.8965	0.29710	0.0:0.8797:0.0:0.1203	.	53;60;60	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	L	53;42;60;60	ENSP00000416828:F53L;ENSP00000410887:F42L;ENSP00000373518:F60L;ENSP00000432440:F60L	ENSP00000373518:F60L	F	+	3	2	NOX5	67107614	1.000000	0.71417	0.998000	0.56505	0.360000	0.29518	2.846000	0.48262	1.595000	0.50050	0.491000	0.48974	TTC		0.577	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2		NM_024505		29	159	0	0	0	0.050027	0	29	159		
ADAMTSL3	57188	broad.mit.edu	37	15	84657546	84657546	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:84657546G>A	ENST00000286744.5	+	22	4044	c.3820G>A	c.(3820-3822)Gaa>Aaa	p.E1274K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1274K|AC027807.1_ENST00000408557.1_RNA	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1274	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTCAGATGTGGAAAGTTCTTC	0.318																																						uc002bjz.3		NaN																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(3820-3822)GAA>AAA		ADAMTS-like 3 precursor							133.0	125.0	128.0					15																	84657546		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84657546G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3820G>A	15.37:g.84657546G>A	ENSP00000286744:p.Glu1274Lys					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E1274K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E1274K	p.E1274K	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		22	4044	+			1274			Ig-like C2-type 2.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3820G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660614	0.29515	.	.	ENSG00000156218	ENST00000286744	T	0.71579	-0.58	4.83	2.81	0.32909	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.684498	0.11397	N	0.568250	T	0.55862	0.1947	N	0.21448	0.665	0.36282	D	0.855815	B;B	0.18166	0.02;0.026	B;B	0.21917	0.029;0.037	T	0.56998	-0.7886	10	0.32370	T	0.25	.	10.3845	0.44132	0.0777:0.138:0.7843:0.0	.	1274;1274	P82987-2;P82987	.;ATL3_HUMAN	K	1274	ENSP00000286744:E1274K	ENSP00000286744:E1274K	E	+	1	0	ADAMTSL3	82448550	1.000000	0.71417	0.206000	0.23566	0.935000	0.57460	3.142000	0.50601	2.389000	0.81357	0.655000	0.94253	GAA		0.318	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2		NM_207517		9	64	0	0	0	0.080935	0	9	64		
CIB1	10519	broad.mit.edu	37	15	90771388	90771388	+	IGR	SNP	A	A	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:90771388A>T	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000379122.3_Missense_Mutation_p.E671V|SEMA4B_ENST00000332496.6_Missense_Mutation_p.E676V|SEMA4B_ENST00000411539.2_Missense_Mutation_p.E676V	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GAGGTGGTGGAGGACGGGGTG	0.622																																						uc002boy.2		NaN																	0				ovary(1)|breast(1)|kidney(1)	3						c.(2026-2028)GAG>GTG		semaphorin 4B precursor							63.0	68.0	67.0					15																	90771388		2101	4212	6313	SO:0001628	intergenic_variant	10509							g.chr15:90771388A>T	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771388A>T						SEMA4B_uc002boz.2_Missense_Mutation_p.E676V|SEMA4B_uc010uqd.1_Missense_Mutation_p.E514V|SEMA4B_uc002bpa.2_Missense_Mutation_p.E514V|SEMA4B_uc010bnv.1_Missense_Mutation_p.E314V	p.E676V	NM_020210	NP_064595			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		15	2310	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.2027A>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.148468	0.37923	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.24151	1.87;2.1;1.87	5.01	2.55	0.30701	.	0.251925	0.20563	U	0.089861	T	0.37348	0.1000	M	0.65975	2.015	0.41171	D	0.986165	D;P;P	0.55800	0.973;0.462;0.462	P;B;B	0.56916	0.809;0.258;0.258	T	0.06679	-1.0813	10	0.34782	T	0.22	.	7.616	0.28158	0.7136:0.1465:0.0:0.1399	.	671;676;671	Q9NPR2-2;Q2NL81;Q9NPR2	.;.;SEM4B_HUMAN	V	676;671;676	ENSP00000332204:E676V;ENSP00000368417:E671V;ENSP00000394720:E676V	ENSP00000332204:E676V	E	+	2	0	SEMA4B	88572392	0.532000	0.26346	0.003000	0.11579	0.033000	0.12548	0.886000	0.28241	0.285000	0.22329	0.459000	0.35465	GAG		0.622	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1				11	14	0	0	0	0.069234	0	11	14		
CHD2	1106	broad.mit.edu	37	15	93467681	93467681	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:93467681G>A	ENST00000394196.4	+	3	1261	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	CHD2_ENST00000557381.1_Missense_Mutation_p.E65K|CHD2_ENST00000536619.1_Missense_Mutation_p.E78K|CHD2_ENST00000420239.2_Missense_Mutation_p.E65K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	65	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGTCAGTCGGAATCTGAGAG	0.522																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(193-195)GAA>AAA		chromodomain helicase DNA binding protein 2							156.0	157.0	156.0					15																	93467681		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93467681G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.193G>A	15.37:g.93467681G>A	ENSP00000377747:p.Glu65Lys					CHD2_uc002bsm.1_Missense_Mutation_p.E65K|CHD2_uc002bsn.2_Missense_Mutation_p.E65K|CHD2_uc002bso.1_Missense_Mutation_p.E65K|CHD2_uc010urb.1_Missense_Mutation_p.E78K	p.E65K	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		3	768	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		65			Ser-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.193G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545566	0.65198	.	.	ENSG00000173575	ENST00000556722;ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.90004	-2.6;-2.59;0.85;2.77	4.82	4.82	0.62117	.	0.000000	0.34700	U	0.003746	D	0.83478	0.5263	N	0.24115	0.695	0.80722	D	1	B;P;P;B	0.40731	0.048;0.608;0.728;0.247	B;B;B;B	0.39339	0.031;0.156;0.297;0.057	D	0.85247	0.1042	10	0.49607	T	0.09	2.0848	18.0769	0.89430	0.0:0.0:1.0:0.0	.	78;65;65;65	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	K	65;65;65;65;78	ENSP00000377747:E65K;ENSP00000451366:E65K;ENSP00000406581:E65K;ENSP00000443618:E78K	ENSP00000377747:E65K	E	+	1	0	CHD2	91268685	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	8.975000	0.93437	2.511000	0.84671	0.561000	0.74099	GAA		0.522	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		55	111	0	0	0	0.139131	0	55	111		
CHD2	1106	broad.mit.edu	37	15	93467687	93467687	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr15:93467687G>A	ENST00000394196.4	+	3	1267	c.199G>A	c.(199-201)Gag>Aag	p.E67K	CHD2_ENST00000557381.1_Missense_Mutation_p.E67K|CHD2_ENST00000536619.1_Missense_Mutation_p.E80K|CHD2_ENST00000420239.2_Missense_Mutation_p.E67K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	67	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GTCGGAATCTGAGAGCGAATC	0.522																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(199-201)GAG>AAG		chromodomain helicase DNA binding protein 2							155.0	156.0	155.0					15																	93467687		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93467687G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.199G>A	15.37:g.93467687G>A	ENSP00000377747:p.Glu67Lys					CHD2_uc002bsm.1_Missense_Mutation_p.E67K|CHD2_uc002bsn.2_Missense_Mutation_p.E67K|CHD2_uc002bso.1_Missense_Mutation_p.E67K|CHD2_uc010urb.1_Missense_Mutation_p.E80K	p.E67K	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		3	774	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		67			Ser-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.199G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533315	0.85812	.	.	ENSG00000173575	ENST00000556722;ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.89746	-2.56;-2.56;0.89;2.77	4.82	4.82	0.62117	.	0.000000	0.34750	U	0.003710	T	0.80984	0.4729	N	0.24115	0.695	0.58432	D	0.999997	P;B;P;P	0.37781	0.608;0.421;0.557;0.608	B;B;B;B	0.35413	0.202;0.081;0.167;0.202	T	0.79045	-0.1964	10	0.11182	T	0.66	0.5749	18.0769	0.89430	0.0:0.0:1.0:0.0	.	80;67;67;67	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	K	67;67;67;67;80	ENSP00000377747:E67K;ENSP00000451366:E67K;ENSP00000406581:E67K;ENSP00000443618:E80K	ENSP00000377747:E67K	E	+	1	0	CHD2	91268691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.975000	0.93437	2.511000	0.84671	0.561000	0.74099	GAG		0.522	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		63	106	0	0	0	0.139131	0	63	106		
SPSB3	90864	broad.mit.edu	37	16	1828497	1828497	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:1828497G>A	ENST00000566339.1	-	3	573	c.243C>T	c.(241-243)ttC>ttT	p.F81F	SPSB3_ENST00000301717.4_Silent_p.F81F	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	81					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGCTGCTACAGAAGGAGGCCT	0.697																																						uc002cmr.2		NaN																	0					0						c.(241-243)TTC>TTT		splA/ryanodine receptor domain and SOCS box							39.0	41.0	40.0					16																	1828497		2197	4296	6493	SO:0001819	synonymous_variant	90864				intracellular signal transduction			g.chr16:1828497G>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.243C>T	16.37:g.1828497G>A						SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Silent_p.F81F|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Silent_p.F136F	p.F81F	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN			2	276	-			81					D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	c.243C>T	CCDS32365.1																																																																																				0.697	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1		NM_080861		12	28	0	0	0	0.080935	0	12	28		
ABCC1	4363	broad.mit.edu	37	16	16232288	16232288	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:16232288G>A	ENST00000399410.3	+	30	4535	c.4360G>A	c.(4360-4362)Gat>Aat	p.D1454N	ABCC1_ENST00000346370.5_Missense_Mutation_p.D1398N|ABCC1_ENST00000349029.5_Missense_Mutation_p.D1339N|ABCC1_ENST00000345148.5_Intron|ABCC1_ENST00000351154.5_Missense_Mutation_p.D1395N|ABCC1_ENST00000399408.2_Missense_Mutation_p.D1464N	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1454	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CCTTGTGTTGGATGAGGCCAC	0.602																																						uc010bvi.2		NaN																	0				ovary(4)	4						c.(4360-4362)GAT>AAT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						50.0	55.0	53.0					16																	16232288		2065	4200	6265	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16232288G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.4360G>A	16.37:g.16232288G>A	ENSP00000382342:p.Asp1454Asn					ABCC1_uc010bvj.2_Missense_Mutation_p.D1395N|ABCC1_uc010bvk.2_Missense_Mutation_p.D1398N|ABCC1_uc010bvl.2_Intron|ABCC1_uc010bvm.2_Missense_Mutation_p.D1339N|ABCC1_uc002del.3_Missense_Mutation_p.D1348N	p.D1454N	NM_004996	NP_004987	P33527	MRP1_HUMAN			30	4535	+			1454	DE->LL: Impairs leukotriene C4 transport.		ABC transporter 2.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.4360G>A	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	36	5.698576	0.96802	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000349029;ENST00000536381	D;D;D;D;D	0.99691	-6.42;-6.42;-6.42;-6.42;-6.42	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	H	0.99535	4.615	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.99;0.94;0.992;0.99	D;D;P;D;D	0.87578	0.998;0.925;0.714;0.955;0.925	D	0.96257	0.9188	10	0.87932	D	0	-21.0002	18.461	0.90738	0.0:0.0:1.0:0.0	.	1339;1398;1395;1454;1464	P33527-5;P33527-3;P33527-2;P33527;P33527-9	.;.;.;MRP1_HUMAN;.	N	1454;1464;1398;1395;1339;1138	ENSP00000382342:D1454N;ENSP00000382340:D1464N;ENSP00000263019:D1398N;ENSP00000263017:D1395N;ENSP00000263016:D1339N	ENSP00000263019:D1398N	D	+	1	0	ABCC1	16139789	1.000000	0.71417	0.996000	0.52242	0.852000	0.48524	9.869000	0.99810	2.608000	0.88229	0.561000	0.74099	GAT		0.602	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996		10	32	0	0	0	0.069234	0	10	32		
SRCAP	10847	broad.mit.edu	37	16	30749639	30749639	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:30749639G>A	ENST00000262518.4	+	34	8663	c.8278G>A	c.(8278-8280)Gaa>Aaa	p.E2760K	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.E2698K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2602K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2760	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTGGTAGAGGAAAAGGAACT	0.627																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(8278-8280)GAA>AAA		Snf2-related CBP activator protein							53.0	52.0	52.0					16																	30749639		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749639G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8278G>A	16.37:g.30749639G>A	ENSP00000262518:p.Glu2760Lys					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2555K	p.E2760K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8663	+			2760			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.8278G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269032	0.40095	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93604	-3.23;-3.25;-3.25	4.84	4.84	0.62591	.	0.000000	0.50627	D	0.000118	D	0.92163	0.7515	N	0.08118	0	0.35520	D	0.801371	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.978	D	0.95136	0.8259	10	0.72032	D	0.01	-8.7274	14.9731	0.71249	0.0:0.0:1.0:0.0	.	2698;2760	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	K	2760;2698;2602	ENSP00000262518:E2760K;ENSP00000378499:E2698K;ENSP00000343042:E2602K	ENSP00000262518:E2760K	E	+	1	0	SRCAP	30657140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.854000	0.75440	2.522000	0.85027	0.591000	0.81541	GAA		0.627	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		7	71	0	0	0	0.038147	0	7	71		
STX4	6810	broad.mit.edu	37	16	31051064	31051064	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:31051064C>G	ENST00000313843.3	+	10	1149	c.834C>G	c.(832-834)atC>atG	p.I278M	STX4_ENST00000394998.1_Missense_Mutation_p.I276M|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	278	Interaction with CENPF. {ECO:0000250}.				blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TGATTGCCATCTGTGTGTCCA	0.587																																						uc002eal.2		NaN																	0					0						c.(832-834)ATC>ATG		syntaxin 4							311.0	236.0	262.0					16																	31051064		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31051064C>G	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.834C>G	16.37:g.31051064C>G	ENSP00000317714:p.Ile278Met					STX4_uc002eak.2_Missense_Mutation_p.I276M|STX4_uc002eam.2_Missense_Mutation_p.I200M|uc002ean.1_5'Flank	p.I278M	NM_004604	NP_004595	Q12846	STX4_HUMAN			10	1058	+			278			Helical; Anchor for type IV membrane protein; (Potential).|Interaction with CENPF (By similarity).		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.834C>G	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620803	0.66787	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.44482	0.92;1.08	6.08	3.82	0.43975	.	0.057438	0.64402	D	0.000001	T	0.48589	0.1508	M	0.76838	2.35	0.35117	D	0.766718	P;P	0.34757	0.467;0.467	B;B	0.40901	0.343;0.343	T	0.65442	-0.6167	10	0.87932	D	0	-13.9166	10.412	0.44299	0.0:0.7697:0.0:0.2303	.	278;276	Q12846;A8MXY0	STX4_HUMAN;.	M	276;278	ENSP00000378447:I276M;ENSP00000317714:I278M	ENSP00000317714:I278M	I	+	3	3	STX4	30958565	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.404000	0.44539	1.586000	0.49944	0.655000	0.94253	ATC		0.587	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3		NM_004604		49	185	0	0	0	0.139131	0	49	185		
ITGAD	3681	broad.mit.edu	37	16	31422500	31422500	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:31422500G>A	ENST00000389202.2	+	13	1509	c.1460G>A	c.(1459-1461)cGa>cAa	p.R487Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	487					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GAGCAGACCCGAGGGGGCCAG	0.642																																						uc002ebv.1		NaN																	0				skin(1)	1						c.(1459-1461)CGA>CAA		integrin, alpha D precursor							74.0	72.0	73.0					16																	31422500		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422500G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1460G>A	16.37:g.31422500G>A	ENSP00000373854:p.Arg487Gln					ITGAD_uc010cap.1_Missense_Mutation_p.R487Q	p.R487Q	NM_005353	NP_005344	Q13349	ITAD_HUMAN			13	1509	+			487			Extracellular (Potential).|FG-GAP 5.		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.1460G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	5.216	0.225351	0.09916	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.10960	2.82	4.69	-0.796	0.10912	.	.	.	.	.	T	0.06462	0.0166	N	0.25485	0.75	0.09310	N	1	B;B	0.20261	0.043;0.043	B;B	0.08055	0.003;0.003	T	0.36504	-0.9745	9	0.39692	T	0.17	.	4.5265	0.11983	0.4304:0.0:0.4238:0.1458	.	503;487	Q59H14;Q13349	.;ITAD_HUMAN	Q	503;487	ENSP00000373854:R487Q	ENSP00000373854:R487Q	R	+	2	0	ITGAD	31330001	0.000000	0.05858	0.001000	0.08648	0.222000	0.24845	0.085000	0.14912	-0.441000	0.07201	0.401000	0.26515	CGA		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1		NM_005353		25	97	0	0	0	0.099896	0	25	97		
HEATR3	55027	broad.mit.edu	37	16	50118104	50118104	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:50118104G>T	ENST00000299192.7	+	9	1383	c.1192G>T	c.(1192-1194)Gag>Tag	p.E398*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E312*|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	398										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CGCATTTATGGAGAATTCCTT	0.502																																						uc002efw.2		NaN																	0				ovary(1)|skin(1)	2						c.(1192-1194)GAG>TAG		HEAT repeat containing 3							138.0	134.0	135.0					16																	50118104		2198	4300	6498	SO:0001587	stop_gained	55027						binding	g.chr16:50118104G>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1192G>T	16.37:g.50118104G>T	ENSP00000299192:p.Glu398*					HEATR3_uc002efx.2_Nonsense_Mutation_p.E312*	p.E398*	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			9	1354	+			398					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Nonsense_Mutation	SNP	ENST00000299192.7	37	c.1192G>T	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	38	7.224023	0.98146	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	6.04	6.04	0.98038	.	0.092238	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	X	312;398	.	ENSP00000285767:E312X	E	+	1	0	HEATR3	48675605	1.000000	0.71417	0.992000	0.48379	0.758000	0.43043	8.723000	0.91458	2.873000	0.98535	0.563000	0.77884	GAG		0.502	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2		NM_182922		12	155	1	0	5.50884e-06	0.09319	6.32232e-06	12	155		
BRD7	29117	broad.mit.edu	37	16	50354583	50354583	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:50354583C>G	ENST00000394688.3	-	14	1762	c.1603G>C	c.(1603-1605)Gac>Cac	p.D535H	BRD7_ENST00000394689.2_Missense_Mutation_p.D536H			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	535					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CCTTCAGAGTCAAAAACTTCA	0.433																																						uc002egf.1		NaN																	0					0						c.(1603-1605)GAC>CAC		bromodomain containing 7							156.0	157.0	157.0					16																	50354583		2198	4300	6498	SO:0001583	missense	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50354583C>G	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1603G>C	16.37:g.50354583C>G	ENSP00000378180:p.Asp535His					BRD7_uc002ege.1_Missense_Mutation_p.D536H	p.D535H	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN			15	1670	-		all_cancers(37;0.0127)	535					Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	c.1603G>C	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425565	0.83667	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.36157	1.27;1.29	5.68	5.68	0.88126	.	0.270903	0.40222	N	0.001155	T	0.48390	0.1497	L	0.55481	1.735	0.80722	D	1	P;D	0.53151	0.93;0.958	P;P	0.51135	0.459;0.66	T	0.47611	-0.9104	10	0.72032	D	0.01	-20.2176	18.777	0.91915	0.0:1.0:0.0:0.0	.	535;536	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	H	535;536	ENSP00000378180:D535H;ENSP00000378181:D536H	ENSP00000378180:D535H	D	-	1	0	BRD7	48912084	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.796000	0.47869	2.662000	0.90505	0.655000	0.94253	GAC		0.433	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3		NM_013263		26	410	0	0	0	0.0918	0	26	410		
IRX5	10265	broad.mit.edu	37	16	54966652	54966652	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:54966652C>T	ENST00000394636.4	+	2	829	c.492C>T	c.(490-492)ttC>ttT	p.F164F	IRX5_ENST00000558597.1_Silent_p.F98F|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Silent_p.F164F|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	164					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.F164F(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCACCTGGTTCGCCAACGCGC	0.597																																						uc002ehv.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(490-492)TTC>TTT		iroquois homeobox protein 5							108.0	100.0	103.0					16																	54966652		2198	4300	6498	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966652C>T	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.492C>T	16.37:g.54966652C>T						IRX5_uc010cca.1_Silent_p.F216F|IRX5_uc002ehw.2_Silent_p.F98F	p.F164F	NM_005853	NP_005844	P78411	IRX5_HUMAN			2	492	+			164			Homeobox; TALE-type.		H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.492C>T	CCDS10751.1																																																																																				0.597	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2				28	205	0	0	0	0.116897	0	28	205		
CDH11	1009	broad.mit.edu	37	16	64981702	64981702	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:64981702G>T	ENST00000268603.4	-	13	2810	c.2195C>A	c.(2194-2196)cCc>cAc	p.P732H	CDH11_ENST00000566827.1_Missense_Mutation_p.P606H|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	732					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGAGCCGTGGGGTCATTGTC	0.562			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NaN		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(2194-2196)CCC>CAC		cadherin 11, type 2 preproprotein							109.0	101.0	104.0					16																	64981702		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981702G>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2195C>A	16.37:g.64981702G>T	ENSP00000268603:p.Pro732His	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.P606H	p.P732H	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2629	-		Ovarian(137;0.0973)	732			Cytoplasmic (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.2195C>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945505	0.73672	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.79141	-1.24	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90653	0.4584	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	732	P55287	CAD11_HUMAN	H	732;715	ENSP00000268603:P732H	ENSP00000268603:P732H	P	-	2	0	CDH11	63539203	1.000000	0.71417	0.983000	0.44433	0.805000	0.45488	8.062000	0.89475	2.941000	0.99782	0.655000	0.94253	CCC		0.562	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1		NM_033664		151	79	1	0	1.50598e-64	0.139131	1.81785e-64	151	79		
TERF2	7014	broad.mit.edu	37	16	69419321	69419321	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:69419321A>G	ENST00000254942.3	-	2	464	c.448T>C	c.(448-450)Tcg>Ccg	p.S150P	TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000603068.1_Missense_Mutation_p.S108P|TERF2_ENST00000567296.2_Missense_Mutation_p.S150P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	150	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				TCAATCCGCGACAGACACTGC	0.488																																					Ovarian(13;63 524 30420 31710 34037)	uc002exd.2		NaN																	0				lung(1)	1						c.(322-324)TCG>CCG		telomeric repeat binding factor 2							149.0	152.0	151.0					16																	69419321		2198	4300	6498	SO:0001583	missense	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69419321A>G		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.448T>C	16.37:g.69419321A>G	ENSP00000254942:p.Ser150Pro					TERF2_uc002exe.2_Missense_Mutation_p.S108P	p.S108P	NM_005652	NP_005643	Q15554	TERF2_HUMAN			2	447	-		Ovarian(137;0.101)	108			TRFH dimerization.			Missense_Mutation	SNP	ENST00000254942.3	37	c.322T>C		.	.	.	.	.	.	.	.	.	.	A	14.51	2.557226	0.45590	.	.	ENSG00000132604	ENST00000254942	.	.	.	5.01	5.01	0.66863	Telomere repeat-binding factor, dimerisation domain (4);	0.396471	0.25369	N	0.031179	T	0.60650	0.2285	L	0.27053	0.805	0.53005	D	0.99996	D;D	0.76494	0.999;0.993	P;P	0.61658	0.892;0.783	T	0.64411	-0.6414	9	0.66056	D	0.02	-2.0259	12.6459	0.56733	1.0:0.0:0.0:0.0	.	108;108	Q15554-2;Q15554	.;TERF2_HUMAN	P	108	.	ENSP00000254942:S108P	S	-	1	0	TERF2	67976822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.385000	0.66231	2.104000	0.64026	0.451000	0.29950	TCG		0.488	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2				45	346	0	0	0	0.139131	0	45	346		
HYDIN	54768	broad.mit.edu	37	16	70908274	70908274	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr16:70908274C>T	ENST00000393567.2	-	64	11032	c.10882G>A	c.(10882-10884)Gaa>Aaa	p.E3628K	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3628					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTATGTCTTCCTGGCTGGTG	0.507																																						uc002ezr.2		NaN																	0				ovary(1)|skin(1)	2						c.(10879-10881)GAA>AAA		hydrocephalus inducing isoform a							74.0	84.0	81.0					16																	70908274		1931	4131	6062	SO:0001583	missense	54768							g.chr16:70908274C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10882G>A	16.37:g.70908274C>T	ENSP00000377197:p.Glu3628Lys						p.E3627K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			64	11007	-		Ovarian(137;0.0654)	3628					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.10879G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471835	0.43942	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00976	5.48	3.99	0.743	0.18347	.	0.259515	0.19459	U	0.113741	T	0.00936	0.0031	L	0.50919	1.6	0.09310	N	1	P	0.46220	0.874	B	0.41723	0.365	T	0.36286	-0.9754	10	0.06757	T	0.87	.	6.6381	0.22895	0.0:0.6376:0.0:0.3624	.	3627	F8WD23	.	K	3628;3627	ENSP00000377197:E3628K	ENSP00000313052:E3627K	E	-	1	0	HYDIN	69465775	0.022000	0.18835	0.005000	0.12908	0.005000	0.04900	0.637000	0.24659	0.326000	0.23384	-0.424000	0.05967	GAA		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				19	223	0	0	0	0.076483	0	19	223		
KIAA0753	9851	broad.mit.edu	37	17	6526348	6526348	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:6526348G>C	ENST00000361413.3	-	6	1316	c.958C>G	c.(958-960)Cag>Gag	p.Q320E	KIAA0753_ENST00000542606.1_Missense_Mutation_p.Q21E|KIAA0753_ENST00000589033.1_5'Flank|KIAA0753_ENST00000572370.1_Missense_Mutation_p.Q21E	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	320						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TCAGTAAACTGAGTGACAAAC	0.498																																						uc002gde.3		NaN																	0					0						c.(958-960)CAG>GAG		hypothetical protein LOC9851							56.0	55.0	55.0					17																	6526348		1922	4125	6047	SO:0001583	missense	9851					centrosome		g.chr17:6526348G>C		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.958C>G	17.37:g.6526348G>C	ENSP00000355250:p.Gln320Glu					KIAA0753_uc010vtd.1_5'Flank|KIAA0753_uc010clo.2_Missense_Mutation_p.Q21E|KIAA0753_uc010vte.1_Missense_Mutation_p.Q21E	p.Q320E	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	6	1317	-			320					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.958C>G	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721833	0.89298	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.85702	-2.02;-2.02	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.92391	0.7585	M	0.79475	2.455	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.92462	0.5978	10	0.66056	D	0.02	-17.3482	17.7581	0.88456	0.0:0.0:1.0:0.0	.	320	Q2KHM9	K0753_HUMAN	E	320;21	ENSP00000355250:Q320E;ENSP00000444634:Q21E	ENSP00000355250:Q320E	Q	-	1	0	KIAA0753	6467072	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.109000	0.89561	2.878000	0.98634	0.650000	0.86243	CAG		0.498	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3		NM_014804		13	35	0	0	0	0.105934	0	13	35		
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	p.R248W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		39	25	0	0	0	0.117977	0	39	25		
DNAH2	146754	broad.mit.edu	37	17	7680153	7680153	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:7680153G>A	ENST00000572933.1	+	32	6464	c.5004G>A	c.(5002-5004)ctG>ctA	p.L1668L	DNAH2_ENST00000389173.2_Silent_p.L1668L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1668	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTGCCTGCTGACAGCGAAGG	0.562																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(5002-5004)CTG>CTA		dynein heavy chain domain 3							71.0	55.0	60.0					17																	7680153		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7680153G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5004G>A	17.37:g.7680153G>A							p.L1668L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			31	5018	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1668			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.5004G>A	CCDS32551.1																																																																																				0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		14	6	0	0	0	0.038395	0	14	6		
DNAH9	1770	broad.mit.edu	37	17	11700983	11700983	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:11700983G>A	ENST00000262442.4	+	43	8361	c.8293G>A	c.(8293-8295)Gag>Aag	p.E2765K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2765K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2765					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGTATTGGGGAGCCCAAATA	0.498																																						uc002gne.2		NaN																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(8293-8295)GAG>AAG		dynein, axonemal, heavy chain 9 isoform 2							155.0	126.0	136.0					17																	11700983		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11700983G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8293G>A	17.37:g.11700983G>A	ENSP00000262442:p.Glu2765Lys					DNAH9_uc010coo.2_Missense_Mutation_p.E2059K	p.E2765K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	43	8361	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2765					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8293G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504563	0.64410	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.27890	1.69;1.64	5.44	5.44	0.79542	.	0.302194	0.32970	N	0.005440	T	0.47377	0.1442	M	0.87547	2.89	0.80722	D	1	B	0.30439	0.279	B	0.34242	0.178	T	0.54384	-0.8302	10	0.72032	D	0.01	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	2765	Q9NYC9	DYH9_HUMAN	K	2765;2765;1347	ENSP00000262442:E2765K;ENSP00000414874:E2765K	ENSP00000262442:E2765K	E	+	1	0	DNAH9	11641708	1.000000	0.71417	0.950000	0.38849	0.151000	0.21798	9.802000	0.99131	2.556000	0.86216	0.650000	0.86243	GAG		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372		10	33	0	0	0	0.058154	0	10	33		
KIAA0100	9703	broad.mit.edu	37	17	26966617	26966617	+	Silent	SNP	G	G	C	rs147060997	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:26966617G>C	ENST00000528896.2	-	10	1133	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	KIAA0100_ENST00000544884.1_Silent_p.L210L|KIAA0100_ENST00000389003.3_Silent_p.L210L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	353						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGAGGGAGTTGAGGCAGACAA	0.473													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19828	0.0		0.0	False		,,,				2504	0.0					uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1057-1059)CTC>CTG		hypothetical protein LOC9703 precursor							146.0	128.0	134.0					17																	26966617		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26966617G>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1059C>G	17.37:g.26966617G>C						KIAA0100_uc002hbv.2_Silent_p.L353L|KIAA0100_uc010crr.1_3'UTR	p.L353L	NM_014680	NP_055495	Q14667	K0100_HUMAN			10	1158	-	Lung NSC(42;0.00431)		353					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.1059C>G	CCDS32595.1																																																																																				0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		14	147	0	0	0	0.11911	0	14	147		
PHF12	57649	broad.mit.edu	37	17	27235835	27235835	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:27235835C>T	ENST00000332830.4	-	12	3234	c.2424G>A	c.(2422-2424)gtG>gtA	p.V808V	PHF12_ENST00000577226.1_3'UTR|PHF12_ENST00000582655.1_5'Flank	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGCACATGTTCACAGCTCCTC	0.507																																						uc002hdg.1		NaN																	0				ovary(1)	1						c.(2422-2424)GTG>GTA		PHD finger protein 12 isoform 1							107.0	83.0	91.0					17																	27235835		2203	4300	6503	SO:0001819	synonymous_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27235835C>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2424G>A	17.37:g.27235835C>T						PHF12_uc010wbb.1_Silent_p.V790V	p.V808V	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		12	2954	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		808						Silent	SNP	ENST00000332830.4	37	c.2424G>A	CCDS32598.1																																																																																				0.507	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1		NM_020889		8	64	0	0	0	0.058154	0	8	64		
PIPOX	51268	broad.mit.edu	37	17	27379941	27379941	+	Silent	SNP	G	G	A	rs570145467		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:27379941G>A	ENST00000323372.4	+	3	593	c.267G>A	c.(265-267)caG>caA	p.Q89Q	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	89					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TTAACAGGCAGACTGGATTAC	0.468																																						uc002hdr.1		NaN																	0					0						c.(265-267)CAG>CAA		pipecolic acid oxidase	Glycine(DB00145)						54.0	54.0	54.0					17																	27379941		2203	4300	6503	SO:0001819	synonymous_variant	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27379941G>A	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.267G>A	17.37:g.27379941G>A							p.Q89Q	NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		3	593	+	Lung NSC(42;0.015)		89					B3KNH0|Q96H28|Q9C070	Silent	SNP	ENST00000323372.4	37	c.267G>A	CCDS11248.1																																																																																				0.468	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1		NM_016518		35	21	0	0	0	0.059317	0	35	21		
ACACA	31	broad.mit.edu	37	17	35479509	35479509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:35479509G>A	ENST00000394406.2	-	49	6161	c.5971C>T	c.(5971-5973)Cga>Tga	p.R1991*	ACACA_ENST00000335166.5_Nonsense_Mutation_p.R1913*|ACACA_ENST00000353139.5_Nonsense_Mutation_p.R2028*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.R1933*|ACACA_ENST00000361253.5_Nonsense_Mutation_p.R117*	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1991	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTACTGTTCGGGTTTCTACA	0.463																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(5971-5973)CGA>TGA		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						191.0	174.0	180.0					17																	35479509		2203	4300	6503	SO:0001587	stop_gained	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35479509G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5971C>T	17.37:g.35479509G>A	ENSP00000377928:p.Arg1991*					ACACA_uc002hnk.2_Nonsense_Mutation_p.R1913*|ACACA_uc002hnl.2_Nonsense_Mutation_p.R1933*|ACACA_uc002hnn.2_Nonsense_Mutation_p.R1991*|ACACA_uc002hno.2_Nonsense_Mutation_p.R2028*|ACACA_uc010cuy.2_Nonsense_Mutation_p.R636*|ACACA_uc010wdb.1_Nonsense_Mutation_p.R29*|ACACA_uc010wdc.1_Nonsense_Mutation_p.R117*	p.R1991*	NM_198836	NP_942133	Q13085	ACACA_HUMAN			49	6162	-		Breast(25;0.00157)|Ovarian(249;0.15)	1991			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Nonsense_Mutation	SNP	ENST00000394406.2	37	c.5971C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	49	15.510522	0.99836	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	.	.	.	5.96	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3463	13.8714	0.63622	0.0:0.0:0.7438:0.2562	.	.	.	.	X	2028;1933;1991;2015;1913;690;117	.	ENSP00000335323:R1913X	R	-	1	2	ACACA	32553622	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.284000	0.33249	2.826000	0.97356	0.637000	0.83480	CGA		0.463	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		24	117	0	0	0	0.099896	0	24	117		
KRT39	390792	broad.mit.edu	37	17	39120762	39120762	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:39120762C>T	ENST00000355612.2	-	2	522	c.487G>A	c.(487-489)Gag>Aag	p.E163K	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	163	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGGAATTCTCGGCCTTGGTA	0.443																																						uc002hvo.1		NaN																	0					0						c.(487-489)GAG>AAG		type I hair keratin KA35							284.0	229.0	248.0					17																	39120762		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39120762C>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.487G>A	17.37:g.39120762C>T	ENSP00000347823:p.Glu163Lys					KRT39_uc010wfm.1_5'UTR	p.E163K	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			2	523	-		Breast(137;0.00043)|Ovarian(249;0.15)	163			Rod.|Coil 1B.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.487G>A	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199901	0.38905	.	.	ENSG00000196859	ENST00000355612	D	0.90324	-2.65	5.28	5.28	0.74379	Filament (1);	0.000000	0.45606	D	0.000350	D	0.96018	0.8703	M	0.92738	3.34	0.32352	N	0.558273	D	0.71674	0.998	P	0.62184	0.899	D	0.97286	0.9921	10	0.72032	D	0.01	.	17.0656	0.86558	0.0:1.0:0.0:0.0	.	163	Q6A163	K1C39_HUMAN	K	163	ENSP00000347823:E163K	ENSP00000347823:E163K	E	-	1	0	KRT39	36374288	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.909000	0.63314	2.633000	0.89246	0.655000	0.94253	GAG		0.443	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1		NM_213656		38	131	0	0	0	0.069456	0	38	131		
KRTAP9-4	85280	broad.mit.edu	37	17	39406130	39406130	+	Missense_Mutation	SNP	G	G	A	rs201060748		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:39406130G>A	ENST00000334109.2	+	1	192	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	53	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)		p.R53H(4)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.642													.|||	1	0.000199681	0.0	0.0	5008	,	,		19351	0.0		0.001	False		,,,				2504	0.0					uc002hwi.2		NaN																	4	Substitution - Missense(4)		lung(3)|upper_aerodigestive_tract(1)		0						c.(157-159)CGC>CAC		keratin associated protein 9-4							60.0	49.0	53.0					17																	39406130		2203	4299	6502	SO:0001583	missense	85280					keratin filament		g.chr17:39406130G>A	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.158G>A	17.37:g.39406130G>A	ENSP00000334922:p.Arg53His					KRTAP9-9_uc010wfq.1_Intron	p.R53H	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	192	+		Breast(137;0.000496)	53			6.|15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Missense_Mutation	SNP	ENST00000334109.2	37	c.158G>A	CCDS11386.1	.	.	.	.	.	.	.	.	.	.	.	2.344	-0.350422	0.05173	.	.	ENSG00000241595	ENST00000334109	T	0.01099	5.34	2.57	-5.14	0.02875	.	.	.	.	.	T	0.01254	0.0041	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39099	-0.9630	9	0.40728	T	0.16	.	2.8899	0.05673	0.2815:0.2222:0.4039:0.0924	.	53	Q9BYQ2	KRA94_HUMAN	H	53	ENSP00000334922:R53H	ENSP00000334922:R53H	R	+	2	0	KRTAP9-4	36659656	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.235000	0.01202	-3.785000	0.00107	-2.699000	0.00136	CGC		0.642	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1				7	121	0	0	0	0.038147	0	7	121		
FKBP10	60681	broad.mit.edu	37	17	39973408	39973408	+	Missense_Mutation	SNP	G	G	A	rs137853882|rs387906960		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:39973408G>A	ENST00000321562.4	+	2	448	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	115	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.		Missing (in OI11).|R -> Q (in BRKS1). {ECO:0000269|PubMed:20839288, ECO:0000269|PubMed:22949511}.		chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AACGAGCGGCGACGCCTCATT	0.647																																						uc002hxv.2		NaN																	0				ovary(1)	1						c.(343-345)CGA>CAA		FK506 binding protein 10 precursor							106.0	93.0	97.0					17																	39973408		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39973408G>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.344G>A	17.37:g.39973408G>A	ENSP00000317232:p.Arg115Gln					FKBP10_uc002hxw.1_5'Flank	p.R115Q	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	2	669	+		Breast(137;0.00122)	115		Missing (in OI6).	PPIase FKBP-type 1.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.344G>A	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	35	5.529040	0.96446	.	.	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	D;D	0.87887	-2.31;-2.31	5.13	5.13	0.70059	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.64402	D	0.000004	D	0.95560	0.8557	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96691	0.9511	10	0.72032	D	0.01	-23.5722	18.5825	0.91177	0.0:0.0:1.0:0.0	.	115	Q96AY3	FKB10_HUMAN	Q	115;55;115;115	ENSP00000408232:R55Q;ENSP00000317232:R115Q	ENSP00000269598:R115Q	R	+	2	0	FKBP10	37226934	1.000000	0.71417	0.927000	0.36925	0.966000	0.64601	9.603000	0.98315	2.408000	0.81797	0.561000	0.74099	CGA		0.647	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2		NM_021939		16	68	0	0	0	0.132662	0	16	68		
HOXB4	3214	broad.mit.edu	37	17	46654260	46654260	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:46654260C>G	ENST00000332503.5	-	2	2371	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_5'Flank|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000465120.3_Intron|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000490677.1_5'Flank	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	194					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TGGGCGATCTCCACCCTCCGG	0.602																																						uc002inp.2		NaN																	0				ovary(1)	1						c.(580-582)GAG>CAG		homeobox B4							93.0	96.0	95.0					17																	46654260		2203	4300	6503	SO:0001583	missense	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46654260C>G		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.580G>C	17.37:g.46654260C>G	ENSP00000328928:p.Glu194Gln					HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	p.E194Q	NM_024015	NP_076920	P17483	HXB4_HUMAN			2	642	-			194			Homeobox.		Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	c.580G>C	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297203	0.95574	.	.	ENSG00000182742	ENST00000332503	D	0.96396	-4.0	5.69	5.69	0.88448	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97402	0.9150	L	0.48174	1.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98104	1.0416	10	0.87932	D	0	.	19.4058	0.94647	0.0:1.0:0.0:0.0	.	194	P17483	HXB4_HUMAN	Q	194	ENSP00000328928:E194Q	ENSP00000328928:E194Q	E	-	1	0	HOXB4	44009259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.797000	0.85911	2.677000	0.91161	0.555000	0.69702	GAG		0.602	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2				35	136	0	0	0	0.064281	0	35	136		
HOXB8	3218	broad.mit.edu	37	17	46691841	46691841	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:46691841C>T	ENST00000239144.4	-	1	460	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	HOXB8_ENST00000576562.1_Missense_Mutation_p.V76M|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	76					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						TGGCACGCCACGGCGCACGGG	0.662																																						uc002inw.2		NaN																	0					0						c.(226-228)GTG>ATG		homeobox B8							46.0	46.0	46.0					17																	46691841		2203	4298	6501	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691841C>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.226G>A	17.37:g.46691841C>T	ENSP00000239144:p.Val76Met						p.V76M	NM_024016	NP_076921	P17481	HXB8_HUMAN			1	461	-			76					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.226G>A	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	c	15.42	2.828014	0.50845	.	.	ENSG00000120068	ENST00000239144	T	0.48522	0.81	2.97	2.97	0.34412	.	0.000000	0.51477	U	0.000099	T	0.61110	0.2321	L	0.52905	1.665	0.43550	D	0.995855	D	0.76494	0.999	D	0.76071	0.987	T	0.61192	-0.7112	10	0.35671	T	0.21	.	14.3989	0.67029	0.0:1.0:0.0:0.0	.	76	P17481	HXB8_HUMAN	M	76	ENSP00000239144:V76M	ENSP00000239144:V76M	V	-	1	0	HOXB8	44046840	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	3.486000	0.53215	1.685000	0.51034	0.290000	0.19541	GTG		0.662	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3				13	46	0	0	0	0.11911	0	13	46		
EPN3	55040	broad.mit.edu	37	17	48618226	48618226	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:48618226C>T	ENST00000268933.3	+	7	1631	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	EPN3_ENST00000537145.1_Missense_Mutation_p.S379L|EPN3_ENST00000541226.1_Nonsense_Mutation_p.Q239*|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	351	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCGATCCCCTCAGGAACCGTC	0.632																																						uc002ira.3		NaN																	0				ovary(1)	1						c.(1051-1053)TCA>TTA		epsin 3							48.0	49.0	49.0					17																	48618226		2203	4300	6503	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48618226C>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1052C>T	17.37:g.48618226C>T	ENSP00000268933:p.Ser351Leu					SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.S379L|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.S324L	p.S351L	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		7	1487	+	Breast(11;1.23e-18)		351			5 X 3 AA repeats of [DE]-P-W.		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.1052C>T	CCDS11570.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.547617|5.547617	0.96488|0.96488	.|.	.|.	ENSG00000049283|ENSG00000049283	ENST00000541226|ENST00000268933;ENST00000442715;ENST00000537145	.|T;T	.|0.17213	.|2.33;2.29	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.331856	.|0.23819	.|N	.|0.044252	.|T	.|0.20292	.|0.0488	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	A|A	0.999999|0.999999	.|P;P;B	.|0.43352	.|0.704;0.804;0.012	.|B;B;B	.|0.39840	.|0.165;0.311;0.008	.|T	.|0.19647	.|-1.0299	.|9	0.35671|0.36615	T|T	0.21|0.2	-4.946|-4.946	16.6413|16.6413	0.85127|0.85127	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|379;379;351	.|B4DK18;F6QWW5;Q9H201	.|.;.;EPN3_HUMAN	X|L	239|351;379;379	.|ENSP00000268933:S351L;ENSP00000439512:S379L	ENSP00000440540:Q239X|ENSP00000268933:S351L	Q|S	+|+	1|2	0|0	EPN3|EPN3	45973225|45973225	0.015000|0.015000	0.18098|0.18098	0.943000|0.943000	0.38184|0.38184	0.418000|0.418000	0.31294|0.31294	2.105000|2.105000	0.41825|0.41825	2.462000|2.462000	0.83206|0.83206	0.555000|0.555000	0.69702|0.69702	CAG|TCA		0.632	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1		NM_017957		12	43	0	0	0	0.09319	0	12	43		
WFIKKN2	124857	broad.mit.edu	37	17	48918001	48918001	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:48918001G>C	ENST00000311378.4	+	2	1880	c.1352G>C	c.(1351-1353)cGg>cCg	p.R451P	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R358P|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	451	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGCAAGCCTCGGCAGAAGCTC	0.647																																						uc002isv.3		NaN																	0				ovary(2)|skin(1)	3						c.(1351-1353)CGG>CCG		WFIKKN2 protein							39.0	41.0	40.0					17																	48918001		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48918001G>C	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1352G>C	17.37:g.48918001G>C	ENSP00000311184:p.Arg451Pro					WFIKKN2_uc010dbu.2_Missense_Mutation_p.R358P	p.R451P	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	2046	+			451			NTR.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.1352G>C	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074842	0.76415	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	T;T	0.31247	1.5;1.5	5.38	5.38	0.77491	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.60929	-0.7165	10	0.62326	D	0.03	.	19.2048	0.93726	0.0:0.0:1.0:0.0	.	451	Q8TEU8	WFKN2_HUMAN	P	358;451;157	ENSP00000405889:R358P;ENSP00000311184:R451P	ENSP00000311184:R451P	R	+	2	0	WFIKKN2	46273000	1.000000	0.71417	0.597000	0.28824	0.667000	0.39255	8.004000	0.88535	2.535000	0.85469	0.556000	0.70494	CGG		0.647	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1		NM_175575		6	81	0	0	0	0.021553	0	6	81		
CACNG4	27092	broad.mit.edu	37	17	64961035	64961035	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:64961035G>C	ENST00000262138.3	+	1	10	c.8G>C	c.(7-9)cGa>cCa	p.R3P		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	3					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ACCATGGTGCGATGCGACCGC	0.761																																						uc002jft.1		NaN																	0				central_nervous_system(1)	1						c.(7-9)CGA>CCA		voltage-dependent calcium channel gamma-4							13.0	11.0	12.0					17																	64961035		2185	4272	6457	SO:0001583	missense	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:64961035G>C	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.8G>C	17.37:g.64961035G>C	ENSP00000262138:p.Arg3Pro						p.R3P	NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		1	23	+	all_cancers(12;9.86e-11)		3			Cytoplasmic (Potential).		B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.8G>C	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	-	13.86	2.362628	0.41902	.	.	ENSG00000075461	ENST00000262138	T	0.54675	0.56	2.24	2.24	0.28232	.	0.158337	0.45361	N	0.000364	T	0.29524	0.0736	N	0.08118	0	0.35038	D	0.759475	B	0.28971	0.229	B	0.24269	0.052	T	0.38243	-0.9670	10	0.35671	T	0.21	.	12.5368	0.56145	0.0:0.0:1.0:0.0	.	3	Q9UBN1	CCG4_HUMAN	P	3	ENSP00000262138:R3P	ENSP00000262138:R3P	R	+	2	0	CACNG4	62391497	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.246000	0.51414	1.099000	0.41499	0.373000	0.22412	CGA		0.761	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1		NM_014405		5	8	0	0	0	0.014758	0	5	8		
AFMID	125061	broad.mit.edu	37	17	76187059	76187059	+	Missense_Mutation	SNP	G	G	C	rs576783336		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:76187059G>C	ENST00000586731.1	+	2	42	c.21G>C	c.(19-21)gaG>gaC	p.E7D	AFMID_ENST00000409257.5_Missense_Mutation_p.E24D|AFMID_ENST00000588800.1_Missense_Mutation_p.E24D|AFMID_ENST00000589256.1_Missense_Mutation_p.E24D|AFMID_ENST00000327898.5_Missense_Mutation_p.E24D|AFMID_ENST00000591952.1_Missense_Mutation_p.E24D					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGGAGCTGGAGAATCAGTACT	0.572																																						uc002jva.3		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(70-72)GAG>GAC		arylformamidase isoform 1							110.0	85.0	93.0					17																	76187059		2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76187059G>C	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000586731.1:c.21G>C	17.37:g.76187059G>C	ENSP00000466241:p.Glu7Asp					AFMID_uc002juy.3_RNA|AFMID_uc010dhj.2_Missense_Mutation_p.E24D|AFMID_uc002jvb.3_Missense_Mutation_p.E24D|AFMID_uc002juz.3_Missense_Mutation_p.E24D	p.E24D	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		2	87	+			24						Missense_Mutation	SNP	ENST00000586731.1	37	c.72G>C		.	.	.	.	.	.	.	.	.	.	G	4.137	0.023810	0.08006	.	.	ENSG00000183077	ENST00000409257;ENST00000409431;ENST00000409722;ENST00000392388;ENST00000327898	.	.	.	4.81	3.82	0.43975	.	0.262894	0.28465	N	0.015247	T	0.22859	0.0552	N	0.17312	0.475	0.26053	N	0.981458	B;B;B;B	0.24043	0.04;0.096;0.009;0.015	B;B;B;B	0.22152	0.026;0.038;0.007;0.016	T	0.15665	-1.0429	9	0.19147	T	0.46	-19.3622	7.1386	0.25543	0.0887:0.0:0.7397:0.1715	.	24;24;24;24	A5PLM3;B8ZZB1;Q63HM1;Q63HM1-2	.;.;AFMID_HUMAN;.	D	24	.	ENSP00000328938:E24D	E	+	3	2	AFMID	73698654	1.000000	0.71417	0.823000	0.32752	0.065000	0.16274	2.959000	0.49153	0.966000	0.38159	0.543000	0.68304	GAG		0.572	AFMID-015	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000438866.1		XM_058889		11	20	0	0	0	0.080935	0	11	20		
DNAH17	8632	broad.mit.edu	37	17	76435210	76435210	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:76435210C>T	ENST00000585328.1	-	73	11876	c.11752G>A	c.(11752-11754)Gac>Aac	p.D3918N	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.D3909N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3909	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGCCACGTCCAGGGCGTTC	0.552																																						uc010dhp.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(2767-2769)GAC>AAC		SubName: Full=DNAH17 variant protein; Flags: Fragment;							75.0	59.0	64.0					17																	76435210		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76435210C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11752G>A	17.37:g.76435210C>T	ENSP00000465516:p.Asp3918Asn					DNAH17_uc002jvq.2_Missense_Mutation_p.D208N|DNAH17_uc002jvs.2_RNA	p.D923N					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		18	2989	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.2767G>A		.	.	.	.	.	.	.	.	.	.	C	14.77	2.636010	0.47049	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08634	3.07	5.36	5.36	0.76844	.	0.094893	0.45867	D	0.000330	T	0.13157	0.0319	L	0.47078	1.49	0.48975	D	0.999732	B	0.20459	0.045	B	0.30105	0.111	T	0.04635	-1.0937	10	0.59425	D	0.04	.	18.6943	0.91594	0.0:1.0:0.0:0.0	.	3918	E7EUM8	.	N	3918;3909	ENSP00000374490:D3909N	ENSP00000300671:D3918N	D	-	1	0	DNAH17	73946805	1.000000	0.71417	0.996000	0.52242	0.151000	0.21798	3.948000	0.56660	2.502000	0.84385	0.655000	0.94253	GAC		0.552	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		14	45	0	0	0	0.11911	0	14	45		
PYCR1	5831	broad.mit.edu	37	17	79891091	79891091	+	Nonstop_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:79891091C>G	ENST00000329875.8	-	7	1023	c.959G>C	c.(958-960)tGa>tCa	p.*320S	MAFG-AS1_ENST00000583492.1_RNA|PYCR1_ENST00000337943.5_Intron|PYCR1_ENST00000403172.4_Nonstop_Mutation_p.*289S|PYCR1_ENST00000402252.2_Nonstop_Mutation_p.*347S|MAFG-AS1_ENST00000582106.1_RNA|PYCR1_ENST00000577756.1_3'UTR|RP11-498C9.13_ENST00000583521.1_RNA	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	0					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CAGGACGTGTCAATCCTTGCC	0.622																																						uc002kcr.1		NaN																	0					0						c.(958-960)TGA>TCA		pyrroline-5-carboxylate reductase 1 isoform 1	L-Proline(DB00172)|NADH(DB00157)						86.0	92.0	90.0					17																	79891091		2202	4300	6502	SO:0001578	stop_lost	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79891091C>G		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.959G>C	17.37:g.79891091C>G						PYCR1_uc002kcq.1_3'UTR|PYCR1_uc002kcp.2_Intron|PYCR1_uc002kcs.1_3'UTR|PYCR1_uc010wvd.1_Nonstop_Mutation_p.*347S|PYCR1_uc002kct.1_Nonstop_Mutation_p.*320S|PYCR1_uc002kcu.1_Nonstop_Mutation_p.*289S	p.*320S	NM_006907	NP_008838	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	1237	-	all_neural(118;0.0878)|Ovarian(332;0.12)		320					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Nonstop_Mutation	SNP	ENST00000329875.8	37	c.959G>C	CCDS11795.1	.	.	.	.	.	.	.	.	.	.	C	3.028	-0.200164	0.06219	.	.	ENSG00000183010	ENST00000329875;ENST00000402252	.	.	.	3.05	0.938	0.19500	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4872	0.27441	0.0:0.8196:0.0:0.1804	.	.	.	.	S	320;347	.	.	X	-	2	2	PYCR1	77484382	1.000000	0.71417	0.000000	0.03702	0.018000	0.09664	2.501000	0.45389	0.025000	0.15241	0.655000	0.94253	TGA		0.622	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1				32	48	0	0	0	0.074837	0	32	48		
RALBP1	10928	broad.mit.edu	37	18	9535846	9535846	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:9535846G>C	ENST00000019317.4	+	10	2102	c.1879G>C	c.(1879-1881)Gag>Cag	p.E627Q	RALBP1_ENST00000383432.3_Missense_Mutation_p.E627Q			Q15311	RBP1_HUMAN	ralA binding protein 1	627					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	CGGCGTCCTTGAGCCAAAAGC	0.657																																						uc002kob.2		NaN																	0				central_nervous_system(1)	1						c.(1879-1881)GAG>CAG		ralA binding protein 1							19.0	20.0	19.0					18																	9535846		2199	4291	6490	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9535846G>C	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1879G>C	18.37:g.9535846G>C	ENSP00000019317:p.Glu627Gln					RALBP1_uc002koc.2_Missense_Mutation_p.E627Q	p.E627Q	NM_006788	NP_006779	Q15311	RBP1_HUMAN			10	2102	+			627					D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.1879G>C	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839112	0.32513	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.11169	2.8;2.8	4.71	4.71	0.59529	.	0.645818	0.15724	N	0.247771	T	0.16471	0.0396	L	0.56769	1.78	0.50313	D	0.999868	B	0.18166	0.026	B	0.20184	0.028	T	0.04454	-1.0950	10	0.66056	D	0.02	-2.6457	18.032	0.89288	0.0:0.0:1.0:0.0	.	627	Q15311	RBP1_HUMAN	Q	627	ENSP00000019317:E627Q;ENSP00000372924:E627Q	ENSP00000019317:E627Q	E	+	1	0	RALBP1	9525846	0.998000	0.40836	0.086000	0.20670	0.026000	0.11368	2.474000	0.45154	2.320000	0.78422	0.655000	0.94253	GAG		0.657	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1		NM_006788		4	9	0	0	0	0.014758	0	4	9		
GAREM	64762	broad.mit.edu	37	18	29867522	29867522	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:29867522C>T	ENST00000269209.6	-	4	1041	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	GAREM_ENST00000399218.4_Silent_p.V346V|RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	346					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										AGTCGGTTTTCACATCACGGA	0.557																																						uc002kxl.2		NaN																	0				ovary(1)|skin(1)	2						c.(1036-1038)GTG>GTA		family with sequence similarity 59, member A							91.0	94.0	93.0					18																	29867522		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29867522C>T	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1038G>A	18.37:g.29867522C>T						FAM59A_uc002kxk.1_Silent_p.V346V	p.V346V	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			4	1094	-			346					Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.1038G>A	CCDS56057.1																																																																																				0.557	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1		NM_022751		24	109	0	0	0	0.076483	0	24	109		
ASXL3	80816	broad.mit.edu	37	18	31318552	31318552	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:31318552C>G	ENST00000269197.5	+	11	1184	c.1184C>G	c.(1183-1185)tCt>tGt	p.S395C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTTCCAGTTTCTGCACAGACA	0.488																																						uc010dmg.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(1183-1185)TCT>TGT		additional sex combs like 3							60.0	62.0	62.0					18																	31318552		1931	4137	6068	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31318552C>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1184C>G	18.37:g.31318552C>G	ENSP00000269197:p.Ser395Cys					ASXL3_uc002kxq.2_Missense_Mutation_p.S102C	p.S395C	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	1239	+			395					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.1184C>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986720	0.35036	.	.	ENSG00000141431	ENST00000269197	T	0.19669	2.13	5.01	5.01	0.66863	.	1.190930	0.06000	N	0.647539	T	0.50411	0.1614	L	0.59436	1.845	0.35516	D	0.80103	D	0.89917	1.0	D	0.83275	0.996	T	0.43845	-0.9366	10	0.66056	D	0.02	.	18.6879	0.91571	0.0:1.0:0.0:0.0	.	395	Q9C0F0	ASXL3_HUMAN	C	395	ENSP00000269197:S395C	ENSP00000269197:S395C	S	+	2	0	ASXL3	29572550	1.000000	0.71417	0.502000	0.27614	0.186000	0.23388	3.956000	0.56722	2.490000	0.84030	0.591000	0.81541	TCT		0.488	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2				3	39	0	0	0	0.115264	0	3	39		
SLC39A6	25800	broad.mit.edu	37	18	33689640	33689640	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:33689640C>T	ENST00000590986.1	-	10	2473	c.2184G>A	c.(2182-2184)caG>caA	p.Q728Q	SLC39A6_ENST00000269187.5_Silent_p.Q728Q			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	728					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCCCAGCATTCTGTAAAAAGA	0.343																																						uc010dmy.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(2182-2184)CAG>CAA		solute carrier family 39 (zinc transporter),							126.0	125.0	125.0					18																	33689640		1824	4080	5904	SO:0001819	synonymous_variant	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33689640C>T	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.2184G>A	18.37:g.33689640C>T							p.Q728Q	NM_012319	NP_036451	Q13433	S39A6_HUMAN			10	2474	-			728			Helical; Name=6; (Potential).		B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	ENST00000590986.1	37	c.2184G>A	CCDS42428.1																																																																																				0.343	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1				32	166	0	0	0	0.059317	0	32	166		
STARD6	147323	broad.mit.edu	37	18	51851180	51851180	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr18:51851180G>C	ENST00000581310.1	-	9	918	c.545C>G	c.(544-546)tCa>tGa	p.S182*	STARD6_ENST00000580990.2_Nonsense_Mutation_p.S58*|STARD6_ENST00000307844.3_Nonsense_Mutation_p.S182*			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	182	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TTCAATTATTGATGGGGACAA	0.358																																						uc010xdt.1		NaN																	0				ovary(1)	1						c.(544-546)TCA>TGA		START domain containing protein 6							149.0	145.0	147.0					18																	51851180		2203	4300	6503	SO:0001587	stop_gained	147323				lipid transport		lipid binding	g.chr18:51851180G>C	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.545C>G	18.37:g.51851180G>C	ENSP00000462349:p.Ser182*						p.S182*	NM_139171	NP_631910	P59095	STAR6_HUMAN		Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)	6	545	-			182			START.			Nonsense_Mutation	SNP	ENST00000581310.1	37	c.545C>G	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460095	0.84317	.	.	ENSG00000174448	ENST00000307844	.	.	.	5.53	5.53	0.82687	.	0.355305	0.24005	N	0.042421	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	14.9523	0.71083	0.0:0.0:1.0:0.0	.	.	.	.	X	182	.	ENSP00000310814:S182X	S	-	2	0	STARD6	50105178	0.965000	0.33210	0.826000	0.32828	0.903000	0.53119	5.199000	0.65152	2.586000	0.87340	0.411000	0.27672	TCA		0.358	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3		NM_139171		8	41	0	0	0	0.047766	0	8	41		
CSNK1G2	1455	broad.mit.edu	37	19	1978449	1978449	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:1978449C>T	ENST00000255641.8	+	4	732	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGCCGATCAAGTCCCGGG	0.731																																					Ovarian(91;880 1392 21236 36928 37598)	uc002lul.3		NaN																	0				stomach(1)	1						c.(235-237)ATC>ATT		casein kinase 1, gamma 2							13.0	16.0	15.0					19																	1978449		2190	4284	6474	SO:0001819	synonymous_variant	1455				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity	g.chr19:1978449C>T	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.237C>T	19.37:g.1978449C>T						CSNK1G2_uc010dsu.2_Silent_p.I31I	p.I79I	NM_001319	NP_001310	P78368	KC1G2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	760	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	79			Protein kinase.		B5BU42|O00704|Q8WUB1	Silent	SNP	ENST00000255641.8	37	c.237C>T	CCDS12077.1																																																																																				0.731	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1		NM_001319		4	13	0	0	0	0.009096	0	4	13		
SH2D3A	10045	broad.mit.edu	37	19	6752630	6752630	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:6752630A>G	ENST00000245908.6	-	10	1974	c.1705T>C	c.(1705-1707)Tcg>Ccg	p.S569P	SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA|SH2D3A_ENST00000437152.3_Missense_Mutation_p.S476P	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	569					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AGGCGCTGCGACAGGACGCCG	0.667																																						uc002mft.2		NaN																	0				breast(2)	2						c.(1705-1707)TCG>CCG		SH2 domain containing 3A							16.0	21.0	20.0					19																	6752630		2197	4290	6487	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6752630A>G	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1705T>C	19.37:g.6752630A>G	ENSP00000245908:p.Ser569Pro					SH2D3A_uc010xjg.1_Missense_Mutation_p.S476P	p.S569P	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN			10	1899	-			569					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.1705T>C	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.616834	0.87359	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.39787	2.12;1.06	4.85	4.85	0.62838	.	0.000000	0.39834	N	0.001245	T	0.64114	0.2569	M	0.78456	2.415	0.49798	D	0.999823	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.68914	-0.5283	10	0.87932	D	0	-20.2344	12.4418	0.55629	1.0:0.0:0.0:0.0	.	476;569	B4DRS7;Q9BRG2	.;SH23A_HUMAN	P	569;476	ENSP00000245908:S569P;ENSP00000393303:S476P	ENSP00000245908:S569P	S	-	1	0	SH2D3A	6703630	1.000000	0.71417	0.816000	0.32577	0.651000	0.38670	8.364000	0.90105	2.051000	0.60960	0.460000	0.39030	TCG		0.667	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1		NM_005490		2	4	0	0	0	0.115264	0	2	4		
TIMM44	10469	broad.mit.edu	37	19	7992973	7992973	+	Missense_Mutation	SNP	C	C	T	rs200747180		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:7992973C>T	ENST00000270538.3	-	11	1385	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	CTXN1_ENST00000318978.4_5'Flank|CTD-3193O13.8_ENST00000594308.1_RNA|TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	373					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCGACGTTGTCAATGTCTAGG	0.637																																						uc002miz.2		NaN																	0				ovary(1)	1						c.(1117-1119)GAC>AAC		translocase of inner mitochondrial membrane 44							143.0	102.0	116.0					19																	7992973		2203	4300	6503	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7992973C>T	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.1117G>A	19.37:g.7992973C>T	ENSP00000270538:p.Asp373Asn					TIMM44_uc002mja.2_Missense_Mutation_p.D113N|TIMM44_uc010dvx.1_RNA|CTXN1_uc002miy.3_5'Flank	p.D373N	NM_006351	NP_006342	O43615	TIM44_HUMAN			11	1119	-			373					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.1117G>A	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	8.881	0.951525	0.18431	.	.	ENSG00000104980	ENST00000270538	T	0.77750	-1.12	4.64	0.746	0.18365	.	0.255125	0.43416	N	0.000561	T	0.64897	0.2640	L	0.45581	1.43	0.48762	D	0.999705	B	0.09022	0.002	B	0.12156	0.007	T	0.51631	-0.8681	10	0.22109	T	0.4	-9.3521	6.9591	0.24587	0.0:0.6216:0.0:0.3784	.	373	O43615	TIM44_HUMAN	N	373	ENSP00000270538:D373N	ENSP00000270538:D373N	D	-	1	0	TIMM44	7898973	0.999000	0.42202	0.295000	0.24960	0.021000	0.10359	4.019000	0.57181	0.380000	0.24823	-0.379000	0.06801	GAC		0.637	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3				6	26	0	0	0	0.02938	0	6	26		
ACTL9	284382	broad.mit.edu	37	19	8808334	8808334	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:8808334C>T	ENST00000324436.3	-	1	838	c.718G>A	c.(718-720)Ggc>Agc	p.G240S		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	240						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGGGCAGGCCGGCCTGGAGC	0.657																																						uc002mkl.2		NaN																	0				large_intestine(2)|pancreas(1)	3						c.(718-720)GGC>AGC		actin-like 9							36.0	36.0	36.0					19																	8808334		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808334C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.718G>A	19.37:g.8808334C>T	ENSP00000316674:p.Gly240Ser						p.G240S	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	839	-			240					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.718G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148018	0.37923	.	.	ENSG00000181786	ENST00000324436	T	0.09630	2.96	4.77	4.77	0.60923	.	0.166790	0.28572	U	0.014867	T	0.27663	0.0680	M	0.75615	2.305	0.30005	N	0.815684	D	0.69078	0.997	P	0.60682	0.878	T	0.07424	-1.0773	10	0.87932	D	0	.	11.2974	0.49286	0.0:0.9109:0.0:0.0891	.	240	Q8TC94	ACTL9_HUMAN	S	240	ENSP00000316674:G240S	ENSP00000316674:G240S	G	-	1	0	ACTL9	8669334	1.000000	0.71417	0.142000	0.22268	0.026000	0.11368	7.017000	0.76399	2.649000	0.89929	0.462000	0.41574	GGC		0.657	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1		NM_178525		14	45	0	0	0	0.11911	0	14	45		
MUC16	94025	broad.mit.edu	37	19	9083641	9083641	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:9083641G>C	ENST00000397910.4	-	1	8377	c.8174C>G	c.(8173-8175)tCt>tGt	p.S2725C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2725	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGTGGAAGAAGGATGGAG	0.468																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8173-8175)TCT>TGT		mucin 16							137.0	131.0	133.0					19																	9083641		1939	4125	6064	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083641G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8174C>G	19.37:g.9083641G>C	ENSP00000381008:p.Ser2725Cys						p.S2725C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	8378	-			2725			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8174C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.388	-0.924939	0.02377	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.235	0.235	0.15431	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	P	0.36438	0.553	B	0.34652	0.187	T	0.43212	-0.9405	7	0.87932	D	0	.	.	.	.	.	2725	B5ME49	.	C	2725	ENSP00000381008:S2725C	ENSP00000381008:S2725C	S	-	2	0	MUC16	8944641	0.022000	0.18835	0.011000	0.14972	0.011000	0.07611	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	TCT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		29	119	0	0	0	0.134883	0	29	119		
DHPS	1725	broad.mit.edu	37	19	12790678	12790678	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:12790678G>A	ENST00000210060.7	-	3	566	c.431C>T	c.(430-432)gCg>gTg	p.A144V	DHPS_ENST00000351660.5_Missense_Mutation_p.A144V|CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000594424.1_Missense_Mutation_p.A102V	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	144					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						GTATGTGGGCGCCAGGCACTT	0.597																																						uc002muh.1		NaN																	0				central_nervous_system(1)	1						c.(430-432)GCG>GTG		deoxyhypusine synthase isoform a	Sulfadoxine(DB01299)						66.0	67.0	67.0					19																	12790678		2203	4300	6503	SO:0001583	missense	1725				peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12790678G>A	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.431C>T	19.37:g.12790678G>A	ENSP00000210060:p.Ala144Val					DHPS_uc002muf.1_Missense_Mutation_p.A21V|DHPS_uc002mug.1_Missense_Mutation_p.A102V|DHPS_uc002mui.1_Missense_Mutation_p.A144V|DHPS_uc002muj.1_Missense_Mutation_p.A144V|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	p.A144V	NM_001930	NP_001921	P49366	DHYS_HUMAN			3	528	-			144					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	ENST00000210060.7	37	c.431C>T	CCDS12276.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757725	0.89843	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.48522	0.81;0.81	5.72	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.71108	0.3301	M	0.91459	3.21	0.80722	D	1	D;P;D	0.71674	0.998;0.774;0.993	P;B;P	0.62885	0.908;0.388;0.673	T	0.77749	-0.2471	10	0.87932	D	0	-18.5453	11.7131	0.51637	0.0896:0.0:0.9104:0.0	.	144;144;144	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	V	144	ENSP00000210060:A144V;ENSP00000221303:A144V	ENSP00000210060:A144V	A	-	2	0	DHPS	12651678	1.000000	0.71417	0.880000	0.34516	0.869000	0.49853	6.955000	0.76007	1.356000	0.45884	0.655000	0.94253	GCG		0.597	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1		NM_001930		32	62	0	0	0	0.144211	0	32	62		
MAST1	22983	broad.mit.edu	37	19	12954349	12954349	+	Silent	SNP	C	C	T	rs201497430		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:12954349C>T	ENST00000251472.4	+	4	294	c.255C>T	c.(253-255)gaC>gaT	p.D85D	MAST1_ENST00000591495.1_Silent_p.D81D	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAGGGCGGACGGACGCCGGT	0.667																																						uc002mvm.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(253-255)GAC>GAT		microtubule associated serine/threonine kinase							55.0	50.0	52.0					19																	12954349		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12954349C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.255C>T	19.37:g.12954349C>T						MAST1_uc002mvk.2_Silent_p.D81D|MAST1_uc002mvl.2_Intron	p.D85D	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			4	383	+			85						Silent	SNP	ENST00000251472.4	37	c.255C>T	CCDS32921.1																																																																																				0.667	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2		NM_014975		6	62	0	0	0	0.038147	0	6	62		
CD97	976	broad.mit.edu	37	19	14517528	14517528	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:14517528G>C	ENST00000242786.5	+	16	2145	c.2065G>C	c.(2065-2067)Gag>Cag	p.E689Q	DDX39A_ENST00000592927.1_5'Flank|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.E596Q|CD97_ENST00000357355.3_Missense_Mutation_p.E640Q	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	689					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTGGACTTTGAGCAGGGCTT	0.622											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002myl.2		NaN																	0				ovary(3)|breast(1)	4						c.(2065-2067)GAG>CAG		CD97 antigen isoform 1 precursor							140.0	140.0	140.0					19																	14517528		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517528G>C		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2065G>C	19.37:g.14517528G>C	ENSP00000242786:p.Glu689Gln		OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	CD97_uc002mym.2_Missense_Mutation_p.E640Q|CD97_uc002myn.2_Missense_Mutation_p.E596Q	p.E689Q	NM_078481	NP_510966	P48960	CD97_HUMAN			16	2188	+			689			Extracellular (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.2065G>C	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940567	0.52972	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.37752	1.18;1.18;1.18	4.98	1.41	0.22369	GPCR, family 2-like (1);	1.796670	0.03525	N	0.221647	T	0.42517	0.1206	L	0.49640	1.575	0.09310	N	1	P;P;B	0.50443	0.935;0.935;0.185	P;P;P	0.49421	0.471;0.61;0.538	T	0.19549	-1.0302	10	0.72032	D	0.01	.	5.6945	0.17847	0.1585:0.185:0.6565:0.0	.	596;640;689	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	Q	689;640;596;639	ENSP00000242786:E689Q;ENSP00000349918:E640Q;ENSP00000351413:E596Q	ENSP00000242786:E689Q	E	+	1	0	CD97	14378528	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.288000	0.18939	-0.009000	0.14296	-0.378000	0.06908	GAG		0.622	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2		NM_078481		35	191	0	0	0	0.069456	0	35	191		
EPS15L1	58513	broad.mit.edu	37	19	16552747	16552747	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:16552747G>A	ENST00000248070.6	-	3	260	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000597937.1_Missense_Mutation_p.L41F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.L41F|EPS15L1_ENST00000535753.2_Missense_Mutation_p.L41F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.L41F	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	41	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TTTAGAAAAAGCGCAGCTTCA	0.517											OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ndz.1		NaN																	0				ovary(3)|skin(2)	5						c.(121-123)CTT>TTT		epidermal growth factor receptor pathway							106.0	113.0	110.0					19																	16552747		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16552747G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.121C>T	19.37:g.16552747G>A	ENSP00000248070:p.Leu41Phe		OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	711	EPS15L1_uc002ndx.2_Missense_Mutation_p.L41F|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Missense_Mutation_p.L41F|EPS15L1_uc010eah.1_Missense_Mutation_p.L41F|EPS15L1_uc002nec.1_Missense_Mutation_p.L41F	p.L41F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			3	127	-			41			EH 1.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.121C>T	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350532	0.24512	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.29917	1.55;1.55;1.55	5.18	4.15	0.48705	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.37839	0.1018	N	0.19112	0.55	0.51482	D	0.999925	D;B;D;D;D	0.76494	0.99;0.203;0.999;0.995;0.994	D;B;D;D;D	0.71870	0.961;0.133;0.975;0.953;0.921	T	0.24621	-1.0155	10	0.54805	T	0.06	.	12.3475	0.55130	0.0811:0.0:0.9189:0.0	.	41;41;41;41;41	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	F	41	ENSP00000393313:L41F;ENSP00000248070:L41F;ENSP00000440103:L41F	ENSP00000248070:L41F	L	-	1	0	EPS15L1	16413747	0.999000	0.42202	0.868000	0.34077	0.160000	0.22226	3.351000	0.52232	1.191000	0.43056	0.655000	0.94253	CTT		0.517	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1		NM_021235		32	160	0	0	0	0.054565	0	32	160		
USHBP1	83878	broad.mit.edu	37	19	17373412	17373412	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17373412C>T	ENST00000252597.3	-	4	764	c.591G>A	c.(589-591)acG>acA	p.T197T	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.T133T	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGGAGGCCTGCGTGCGGACCA	0.657																																						uc002nfs.1		NaN																	0				ovary(1)	1						c.(589-591)ACG>ACA		Usher syndrome 1C binding protein 1							44.0	41.0	42.0					19																	17373412		2202	4298	6500	SO:0001819	synonymous_variant	83878						PDZ domain binding	g.chr19:17373412C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.591G>A	19.37:g.17373412C>T						USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.T133T|USHBP1_uc010eam.1_Silent_p.T125T	p.T197T	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			4	704	-			197			Potential.			Silent	SNP	ENST00000252597.3	37	c.591G>A	CCDS12353.1																																																																																				0.657	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1		NM_031941		42	58	0	0	0	0.11126	0	42	58		
SLC5A5	6528	broad.mit.edu	37	19	17983432	17983432	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17983432G>A	ENST00000222248.3	+	1	651	c.304G>A	c.(304-306)Gcc>Acc	p.A102T		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	102			A -> P. {ECO:0000269|PubMed:9329364}.		cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGTCCTCACCGCCCTGCTCTT	0.662																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.3		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(304-306)GCC>ACC		solute carrier family 5 (sodium iodide							78.0	70.0	72.0					19																	17983432		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17983432G>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.304G>A	19.37:g.17983432G>A	ENSP00000222248:p.Ala102Thr						p.A102T	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			1	651	+			102		A -> P.	Helical; (Potential).		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.304G>A	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676942	0.47886	.	.	ENSG00000105641	ENST00000222248	D	0.87809	-2.3	4.39	2.18	0.27775	.	0.055611	0.64402	N	0.000001	D	0.91379	0.7280	H	0.94925	3.6	0.58432	D	0.999994	D	0.57899	0.981	P	0.50162	0.633	D	0.91128	0.4935	10	0.54805	T	0.06	.	9.1949	0.37222	0.1991:0.0:0.8009:0.0	.	102	Q92911	SC5A5_HUMAN	T	102	ENSP00000222248:A102T	ENSP00000222248:A102T	A	+	1	0	SLC5A5	17844432	1.000000	0.71417	0.006000	0.13384	0.002000	0.02628	4.459000	0.60102	0.997000	0.38969	0.485000	0.47835	GCC		0.662	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1				5	72	0	0	0	0.02938	0	5	72		
SLC5A5	6528	broad.mit.edu	37	19	17983483	17983483	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:17983483G>A	ENST00000222248.3	+	1	702	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	119					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAGCACCTACGAGGTACCGGA	0.667																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.3		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(355-357)GAG>AAG		solute carrier family 5 (sodium iodide							47.0	44.0	45.0					19																	17983483		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17983483G>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.355G>A	19.37:g.17983483G>A	ENSP00000222248:p.Glu119Lys						p.E119K	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			1	702	+			119			Cytoplasmic (Potential).		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.355G>A	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114565	0.77210	.	.	ENSG00000105641	ENST00000222248	D	0.90004	-2.6	4.39	-6.56	0.01848	.	0.324646	0.33382	N	0.004976	D	0.94551	0.8245	H	0.94345	3.525	0.33539	D	0.594683	D	0.58620	0.983	P	0.62298	0.9	D	0.94217	0.7464	10	0.62326	D	0.03	.	19.9316	0.97122	0.0:0.2395:0.7605:0.0	.	119	Q92911	SC5A5_HUMAN	K	119	ENSP00000222248:E119K	ENSP00000222248:E119K	E	+	1	0	SLC5A5	17844483	0.995000	0.38212	0.982000	0.44146	0.967000	0.64934	1.226000	0.32563	-0.641000	0.05487	0.485000	0.47835	GAG		0.667	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1				6	52	0	0	0	0.02938	0	6	52		
NUDT19	390916	broad.mit.edu	37	19	33202726	33202726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:33202726G>T	ENST00000397061.3	+	3	991	c.991G>T	c.(991-993)Gaa>Taa	p.E331*		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	331						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AAAGACTGAGGAAATCATGAA	0.348																																						uc010edf.2		NaN																	0					0						c.(991-993)GAA>TAA		nudix (nucleoside diphosphate linked moiety							86.0	81.0	83.0					19																	33202726		1857	4111	5968	SO:0001587	stop_gained	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33202726G>T		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.991G>T	19.37:g.33202726G>T	ENSP00000380251:p.Glu331*						p.E331*	NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN			3	991	+	Esophageal squamous(110;0.137)		331						Nonsense_Mutation	SNP	ENST00000397061.3	37	c.991G>T	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045190	0.93685	.	.	ENSG00000213965	ENST00000397061	.	.	.	5.32	5.32	0.75619	.	0.263183	0.29165	U	0.012954	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-10.429	14.4901	0.67645	0.0:0.0:1.0:0.0	.	.	.	.	X	331	.	ENSP00000380251:E331X	E	+	1	0	NUDT19	37894566	1.000000	0.71417	0.963000	0.40424	0.934000	0.57294	5.125000	0.64715	2.492000	0.84095	0.549000	0.68633	GAA		0.348	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3		XM_372723		11	60	1	0	1.58986e-06	0.069234	1.82938e-06	11	60		
ZNF30	90075	broad.mit.edu	37	19	35434793	35434793	+	Missense_Mutation	SNP	G	G	A	rs201795798		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:35434793G>A	ENST00000601142.1	+	5	1160	c.923G>A	c.(922-924)aGa>aAa	p.R308K	ZNF30_ENST00000303586.7_Missense_Mutation_p.R309K|ZNF30_ENST00000426813.2_Missense_Mutation_p.R227K|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.R309K			P17039	ZNF30_HUMAN	zinc finger protein 30	308					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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGCATCAGAGAATTCATACT	0.448																																						uc010edp.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(922-924)AGA>AAA		zinc finger protein 30 isoform b							78.0	86.0	83.0					19																	35434793		2202	4299	6501	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35434793G>A	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.923G>A	19.37:g.35434793G>A	ENSP00000469954:p.Arg308Lys					ZNF30_uc002nxf.2_Missense_Mutation_p.R227K|ZNF30_uc010edq.1_Missense_Mutation_p.R309K|ZNF30_uc010edr.1_Missense_Mutation_p.R309K	p.R308K	NM_194325	NP_919306	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1301	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		308			C2H2-type 7.		A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.923G>A	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	11.41	1.631742	0.29068	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.18338	2.22;2.22	2.23	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10380	0.0254	L	0.28400	0.85	0.21802	N	0.999535	B;B	0.33413	0.196;0.411	B;B	0.31101	0.085;0.124	T	0.26538	-1.0100	9	0.41790	T	0.15	.	4.3143	0.10986	0.359:0.0:0.641:0.0	.	309;308	P17039-2;P17039	.;ZNF30_HUMAN	K	309;308;227;45	ENSP00000403441:R309K;ENSP00000416457:R227K	ENSP00000303889:R308K	R	+	2	0	ZNF30	40126633	0.000000	0.05858	0.003000	0.11579	0.085000	0.17905	-0.040000	0.12104	0.265000	0.21872	0.404000	0.27445	AGA		0.448	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1		NM_194325		19	97	0	0	0	0.049695	0	19	97		
RYR1	6261	broad.mit.edu	37	19	38966027	38966027	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:38966027C>G	ENST00000359596.3	+	29	4230	c.4230C>G	c.(4228-4230)ctC>ctG	p.L1410L	RYR1_ENST00000355481.4_Silent_p.L1410L|RYR1_ENST00000360985.3_Silent_p.L1410L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1410	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCCCCGACTCCCTCACGACG	0.622																																						uc002oit.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(4228-4230)CTC>CTG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						49.0	40.0	43.0					19																	38966027		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38966027C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4230C>G	19.37:g.38966027C>G						RYR1_uc002oiu.2_Silent_p.L1410L	p.L1410L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		29	4360	+	all_cancers(60;7.91e-06)		1410			Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.4230C>G	CCDS33011.1																																																																																				0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				4	34	0	0	0	0.009096	0	4	34		
DLL3	10683	broad.mit.edu	37	19	39995950	39995950	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:39995950G>C	ENST00000205143.4	+	6	959	c.952G>C	c.(952-954)Gat>Cat	p.D318H	DLL3_ENST00000356433.5_Missense_Mutation_p.D318H	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	318	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.			D -> N (in Ref. 2; BAC11535). {ECO:0000305}.	compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACATGTGCAGATGGACCCTG	0.617																																						uc002olx.2		NaN																	0				central_nervous_system(2)|breast(1)	3						c.(952-954)GAT>CAT		delta-like 3 protein isoform 1 precursor							152.0	130.0	138.0					19																	39995950		2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39995950G>C	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.952G>C	19.37:g.39995950G>C	ENSP00000205143:p.Asp318His					DLL3_uc010egq.2_Missense_Mutation_p.D318H|DLL3_uc002olw.2_Missense_Mutation_p.D318H	p.D318H	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		6	1010	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		318			EGF-like 3.|Extracellular (Potential).		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.952G>C	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788149	0.90367	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.87729	-2.29;-2.29	4.97	4.97	0.65823	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.42964	D	0.000639	D	0.91334	0.7267	L	0.50993	1.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90693	0.4614	9	.	.	.	.	16.9968	0.86370	0.0:0.0:1.0:0.0	.	318;318	Q9NYJ7;E9PFG2	DLL3_HUMAN;.	H	318	ENSP00000348810:D318H;ENSP00000205143:D318H	.	D	+	1	0	DLL3	44687790	1.000000	0.71417	0.913000	0.36048	0.893000	0.52053	7.459000	0.80802	2.296000	0.77279	0.561000	0.74099	GAT		0.617	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1				45	104	0	0	0	0.139131	0	45	104		
ADCK4	79934	broad.mit.edu	37	19	41206059	41206059	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:41206059C>T	ENST00000324464.3	-	12	1357	c.1056G>A	c.(1054-1056)acG>acA	p.T352T	ADCK4_ENST00000243583.6_Silent_p.T311T|ADCK4_ENST00000450541.1_Silent_p.T311T	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	352	Protein kinase.		T -> R (in dbSNP:rs36012476). {ECO:0000269|PubMed:17344846}.			integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCAGACACAGCGTCAGGAGCT	0.557																																						uc002oor.2		NaN																	0					0						c.(1054-1056)ACG>ACA		aarF domain containing kinase 4 isoform a							81.0	71.0	75.0					19																	41206059		2203	4300	6503	SO:0001819	synonymous_variant	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41206059C>T	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1056G>A	19.37:g.41206059C>T						ADCK4_uc002oop.1_Silent_p.T29T|ADCK4_uc002ooq.1_Silent_p.T311T	p.T352T	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		12	1358	-			352			Protein kinase.		Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	37	c.1056G>A	CCDS12562.1																																																																																				0.557	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1		NM_024876		21	24	0	0	0	0.055883	0	21	24		
CYP2A6	1548	broad.mit.edu	37	19	41354576	41354576	+	Nonsense_Mutation	SNP	C	C	A	rs200793736		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:41354576C>A	ENST00000301141.5	-	3	456	c.436G>T	c.(436-438)Gag>Tag	p.E146*	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	146					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|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)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATGCGCTCCTCGATGCCTCGC	0.692																																						uc002opl.3		NaN																	0				ovary(2)	2						c.(436-438)GAG>TAG		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						39.0	42.0	41.0					19																	41354576		2203	4299	6502	SO:0001587	stop_gained	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41354576C>A	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.436G>T	19.37:g.41354576C>A	ENSP00000301141:p.Glu146*					CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA	p.E146*	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	457	-			146					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Nonsense_Mutation	SNP	ENST00000301141.5	37	c.436G>T	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	24.9	4.583919	0.86748	.	.	ENSG00000255974	ENST00000301141	.	.	.	2.95	0.646	0.17789	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.8491	0.24005	0.0:0.714:0.1771:0.1089	.	.	.	.	X	146	.	ENSP00000301141:E146X	E	-	1	0	CYP2A6	46046416	0.919000	0.31177	0.236000	0.24074	0.340000	0.28889	2.445000	0.44899	0.023000	0.15187	-0.544000	0.04233	GAG		0.692	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1		NM_000762		15	64	1	0	4.7546e-09	0.146539	5.52832e-09	15	64		
ZNF112	7771	broad.mit.edu	37	19	44832455	44832455	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:44832455G>C	ENST00000337401.4	-	5	1961	c.1873C>G	c.(1873-1875)Caa>Gaa	p.Q625E	ZNF112_ENST00000354340.4_Missense_Mutation_p.Q619E|ZNF112_ENST00000536500.1_Missense_Mutation_p.Q642E	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q625E(1)|p.Q619E(1)									TGATGGCCTTGAAGGTGTGAA	0.458																																						uc010ejj.2		NaN																	2	Substitution - Missense(2)		breast(2)	ovary(3)|skin(2)	5						c.(1873-1875)CAA>GAA		zinc finger protein 228 isoform 1							137.0	134.0	135.0					19																	44832455		2203	4300	6503	SO:0001583	missense	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44832455G>C	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1873C>G	19.37:g.44832455G>C	ENSP00000337081:p.Gln625Glu					ZFP112_uc002ozc.3_Missense_Mutation_p.Q619E|ZFP112_uc010xwy.1_Missense_Mutation_p.Q642E|ZFP112_uc010xwz.1_Missense_Mutation_p.Q624E	p.Q625E	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	1986	-			625			C2H2-type 8.		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1873C>G	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816548	0.32145	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.18016	3.21;2.24;3.21	5.0	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32918	N	0.005496	T	0.05547	0.0146	N	0.11106	0.095	0.09310	N	0.99999	B;B;B	0.30634	0.288;0.244;0.288	B;B;B	0.30105	0.111;0.067;0.111	T	0.43180	-0.9407	10	0.02654	T	1	-22.0701	3.2904	0.06947	0.0947:0.2822:0.466:0.1571	.	624;642;625	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	E	625;625;619;642;624	ENSP00000337081:Q625E;ENSP00000346305:Q619E;ENSP00000441990:Q642E	ENSP00000253426:Q624E	Q	-	1	0	ZNF285	49524295	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.556000	0.05992	2.484000	0.83849	0.655000	0.94253	CAA		0.458	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1		NM_013380		25	171	0	0	0	0.0918	0	25	171		
ZNF229	7772	broad.mit.edu	37	19	44936420	44936420	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:44936420G>C	ENST00000588931.1	-	5	648	c.215C>G	c.(214-216)tCa>tGa	p.S72*	ZNF229_ENST00000291187.4_Nonsense_Mutation_p.S72*|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCACCCACTGAGAGTAGGTT	0.468																																						uc002oze.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(214-216)TCA>TGA		zinc finger protein 229							92.0	101.0	98.0					19																	44936420		2199	4300	6499	SO:0001587	stop_gained	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44936420G>C	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.215C>G	19.37:g.44936420G>C	ENSP00000466519:p.Ser72*					ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Nonsense_Mutation_p.S72*	p.S72*	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			5	649	-		Prostate(69;0.0352)	72			KRAB.		B2RWN3|Q59FV2|Q86WL9	Nonsense_Mutation	SNP	ENST00000588931.1	37	c.215C>G	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	G	39	7.478915	0.98309	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.58	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.333	0.66569	0.0:0.0:1.0:0.0	.	.	.	.	X	72	.	ENSP00000291187:S72X	S	-	2	0	ZNF229	49628260	0.706000	0.27856	0.756000	0.31282	0.910000	0.53928	2.718000	0.47236	1.696000	0.51158	0.609000	0.83330	TCA		0.468	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1		NM_014518		22	144	0	0	0	0.083992	0	22	144		
FKRP	79147	broad.mit.edu	37	19	47259808	47259808	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:47259808C>G	ENST00000318584.5	+	4	1398	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	FKRP_ENST00000391909.3_Missense_Mutation_p.I367M|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	367					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		ACCTGGGCATCTACTTGGAGG	0.701																																						uc002pfn.2		NaN																	0				pancreas(1)	1						c.(1099-1101)ATC>ATG		fukutin-related protein							28.0	21.0	24.0					19																	47259808		2202	4298	6500	SO:0001583	missense	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259808C>G	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.1101C>G	19.37:g.47259808C>G	ENSP00000326570:p.Ile367Met					FKRP_uc002pfp.2_Missense_Mutation_p.I367M	p.I367M	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	1398	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	367					A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	c.1101C>G	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159264	0.57368	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.90197	-2.63;-2.63	5.05	5.05	0.67936	.	0.060514	0.64402	D	0.000004	D	0.87819	0.6273	N	0.11818	0.18	0.47123	D	0.999323	D	0.59767	0.986	P	0.61132	0.884	D	0.86016	0.1504	10	0.27785	T	0.31	-23.1751	11.4625	0.50219	0.0:0.9119:0.0:0.0881	.	367	Q9H9S5	FKRP_HUMAN	M	367	ENSP00000375776:I367M;ENSP00000326570:I367M	ENSP00000326570:I367M	I	+	3	3	FKRP	51951648	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.111000	0.31159	2.355000	0.79922	0.305000	0.20034	ATC		0.701	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1		NM_024301		7	25	0	0	0	0.02938	0	7	25		
NUCB1	4924	broad.mit.edu	37	19	49425626	49425626	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:49425626C>G	ENST00000405315.4	+	13	1665	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	NUCB1_ENST00000407032.1_Nonsense_Mutation_p.S444*|NUCB1_ENST00000263273.5_Nonsense_Mutation_p.S444*|NUCB1_ENST00000485798.1_3'UTR	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	444						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GTGGACACTTCAGAAAAGAAA	0.592																																						uc002plb.3		NaN																	0					0						c.(1330-1332)TCA>TGA		nucleobindin 1 precursor							125.0	115.0	118.0					19																	49425626		2203	4300	6503	SO:0001587	stop_gained	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49425626C>G	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1331C>G	19.37:g.49425626C>G	ENSP00000385923:p.Ser444*					NUCB1_uc002plc.2_Nonsense_Mutation_p.S444*|NUCB1_uc002pld.2_Nonsense_Mutation_p.S107*	p.S444*	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	13	1403	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	444					B2RD64|Q15838|Q7Z4J7|Q9BUR1	Nonsense_Mutation	SNP	ENST00000405315.4	37	c.1331C>G	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.038765	0.75617	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273	.	.	.	3.5	3.5	0.40072	.	0.662176	0.13901	N	0.354916	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.8171	0.46583	0.0:1.0:0.0:0.0	.	.	.	.	X	444	.	ENSP00000263273:S444X	S	+	2	0	NUCB1	54117438	0.911000	0.30947	0.905000	0.35620	0.041000	0.13682	1.585000	0.36600	2.260000	0.74910	0.306000	0.20318	TCA		0.592	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2		NM_006184		42	92	0	0	0	0.139131	0	42	92		
ZNF28	7576	broad.mit.edu	37	19	53303586	53303586	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:53303586G>A	ENST00000457749.2	-	4	1631	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	ZNF28_ENST00000360272.4_Silent_p.F451F|ZNF28_ENST00000414252.2_Silent_p.F451F|ZNF28_ENST00000438150.2_Silent_p.F451F	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	504					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)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AATCACTCCGGAAAGCCTTGT	0.393																																						uc002qad.2		NaN																	0				skin(1)	1						c.(1510-1512)TTC>TTT		zinc finger protein 28							119.0	121.0	120.0					19																	53303586		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303586G>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1512C>T	19.37:g.53303586G>A						ZNF28_uc002qac.2_Silent_p.F451F|ZNF28_uc010eqe.2_Silent_p.F450F	p.F504F	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	1632	-			504			C2H2-type 11.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.1512C>T	CCDS33093.2																																																																																				0.393	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2		NM_006969		30	161	0	0	0	0.054565	0	30	161		
ZNF671	79891	broad.mit.edu	37	19	58238866	58238866	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:58238866C>G	ENST00000317398.6	-	1	126	c.31G>C	c.(31-33)Gat>Cat	p.D11H	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000596939.1_Missense_Mutation_p.D11H|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCAGAGCATCAGACGCGTCT	0.667																																						uc002qpz.3		NaN																	0				ovary(1)	1						c.(31-33)GAT>CAT		zinc finger protein 671							59.0	59.0	59.0					19																	58238866		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58238866C>G		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.31G>C	19.37:g.58238866C>G	ENSP00000321848:p.Asp11His					ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_5'UTR	p.D11H	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	1	130	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	11					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.31G>C	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076641	0.20227	.	.	ENSG00000083814	ENST00000317398	T	0.05447	3.44	1.62	-3.03	0.05429	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.20196	N	0.999926	B	0.06786	0.001	B	0.01281	0.0	T	0.42015	-0.9476	9	0.51188	T	0.08	.	4.0907	0.09968	0.4974:0.2755:0.2271:0.0	.	11	Q8TAW3	ZN671_HUMAN	H	11	ENSP00000321848:D11H	ENSP00000321848:D11H	D	-	1	0	ZNF671	62930678	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.213000	0.09305	-0.751000	0.04734	-0.366000	0.07423	GAT		0.667	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1		NM_024833		8	41	0	0	0	0.038147	0	8	41		
SNTG2	54221	broad.mit.edu	37	2	1079260	1079260	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:1079260C>G	ENST00000308624.5	+	2	258	c.129C>G	c.(127-129)atC>atG	p.I43M	SNTG2_ENST00000407292.1_Missense_Mutation_p.I43M	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	43					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTATGACATCCGGCTGAAGC	0.473																																						uc002qwq.2		NaN																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(127-129)ATC>ATG		syntrophin, gamma 2							125.0	125.0	125.0					2																	1079260		2011	4188	6199	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1079260C>G	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.129C>G	2.37:g.1079260C>G	ENSP00000311837:p.Ile43Met					SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Missense_Mutation_p.I43M	p.I43M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	2	257	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	43					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.129C>G	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	C	4.043	0.005665	0.07866	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.56275	1.09;0.47	4.23	2.38	0.29361	.	0.287204	0.33253	N	0.005120	T	0.42698	0.1214	L	0.48642	1.525	0.21697	N	0.999581	P;P	0.44195	0.828;0.664	B;B	0.42593	0.392;0.293	T	0.28490	-1.0042	10	0.45353	T	0.12	.	5.8332	0.18593	0.0:0.666:0.1587:0.1753	.	43;43	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	M	43	ENSP00000311837:I43M;ENSP00000385020:I43M	ENSP00000311837:I43M	I	+	3	3	SNTG2	1069260	0.999000	0.42202	0.093000	0.20910	0.006000	0.05464	0.572000	0.23684	0.236000	0.21180	-0.282000	0.10007	ATC		0.473	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1		NM_018968		21	97	0	0	0	0.069288	0	21	97		
APOB	338	broad.mit.edu	37	2	21225673	21225673	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:21225673T>C	ENST00000233242.1	-	29	12748	c.12621A>G	c.(12619-12621)aaA>aaG	p.K4207K	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4207					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATATCCCAGGTTTCCCCGGAA	0.433																																						uc002red.2		NaN																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(12619-12621)AAA>AAG		apolipoprotein B precursor	Atorvastatin(DB01076)						52.0	54.0	53.0					2																	21225673		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21225673T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12621A>G	2.37:g.21225673T>C							p.K4207K	NM_000384	NP_000375	P04114	APOB_HUMAN			29	12749	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4207					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.12621A>G	CCDS1703.1																																																																																				0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				12	65	0	0	0	0.09319	0	12	65		
ASXL2	55252	broad.mit.edu	37	2	25982476	25982476	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:25982476C>G	ENST00000435504.4	-	9	1107	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	ASXL2_ENST00000336112.4_Missense_Mutation_p.E244Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.E12Q|ASXL2_ENST00000272341.4_Missense_Mutation_p.E12Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	272					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGTGTCTCAACGTCAATG	0.423																																						uc002rgs.2		NaN																	0				pancreas(1)	1						c.(814-816)GAG>CAG		additional sex combs like 2							198.0	188.0	191.0					2																	25982476		1951	4156	6107	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25982476C>G			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.814G>C	2.37:g.25982476C>G	ENSP00000391447:p.Glu272Gln					ASXL2_uc002rgt.1_Missense_Mutation_p.E12Q	p.E272Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			8	1035	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		272					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.814G>C		.	.	.	.	.	.	.	.	.	.	C	21.8	4.209149	0.79240	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.27402	1.67;1.67;1.83;1.83	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	L	0.38175	1.15	0.80722	D	1	D;P	0.89917	1.0;0.915	D;D	0.87578	0.998;0.939	T	0.45469	-0.9259	10	0.72032	D	0.01	-11.9203	18.133	0.89608	0.0:1.0:0.0:0.0	.	12;272	Q76L83-2;Q76L83	.;ASXL2_HUMAN	Q	272;244;12;12	ENSP00000391447:E272Q;ENSP00000337250:E244Q;ENSP00000383920:E12Q;ENSP00000272341:E12Q	ENSP00000272341:E12Q	E	-	1	0	ASXL2	25835980	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.672000	0.83956	2.613000	0.88420	0.650000	0.86243	GAG		0.423	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263		64	104	0	0	0	0.139131	0	64	104		
SLC4A1AP	22950	broad.mit.edu	37	2	27888132	27888132	+	Missense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:27888132G>T	ENST00000326019.6	+	2	1273	c.991G>T	c.(991-993)Gat>Tat	p.D331Y	SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000337768.5_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	331						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGGTAGCCAAGATGATGAGAT	0.398																																						uc002rlk.3		NaN																	0					0						c.(991-993)GAT>TAT		solute carrier family 4 (anion exchanger),							154.0	161.0	159.0					2																	27888132		2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27888132G>T		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.991G>T	2.37:g.27888132G>T	ENSP00000323837:p.Asp331Tyr					SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	p.D331Y	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN			2	1273	+	Acute lymphoblastic leukemia(172;0.155)		331					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.991G>T	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766302	0.69878	.	.	ENSG00000163798	ENST00000326019	T	0.32515	1.45	5.28	5.28	0.74379	.	0.455870	0.27240	N	0.020267	T	0.41766	0.1173	L	0.59436	1.845	0.37261	D	0.906996	D	0.61697	0.99	P	0.54759	0.76	T	0.47169	-0.9138	10	0.52906	T	0.07	-10.557	10.1478	0.42774	0.1229:0.0:0.8771:0.0	.	331	Q9BWU0	NADAP_HUMAN	Y	331	ENSP00000323837:D331Y	ENSP00000323837:D331Y	D	+	1	0	SLC4A1AP	27741636	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.432000	0.59922	2.464000	0.83262	0.462000	0.41574	GAT		0.398	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1		NM_018158		21	106	1	0	5.35356e-11	0.076483	6.29079e-11	21	106		
PRKD3	23683	broad.mit.edu	37	2	37487476	37487476	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:37487476C>T	ENST00000379066.1	-	15	2698	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	PRKD3_ENST00000234179.2_Missense_Mutation_p.E646K			O94806	KPCD3_HUMAN	protein kinase D3	646	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AAGACTCGTTCTGGGGTTTCA	0.393																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1936-1938)GAA>AAA		protein kinase D3							94.0	91.0	92.0					2																	37487476		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37487476C>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1936G>A	2.37:g.37487476C>T	ENSP00000368356:p.Glu646Lys					PRKD3_uc002rqe.1_Missense_Mutation_p.E246K	p.E646K	NM_005813	NP_005804	O94806	KPCD3_HUMAN			14	2491	-		all_hematologic(82;0.21)	646			Protein kinase.		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1936G>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	36	5.969365	0.97156	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.39592	1.07;1.07	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	N	0.11845	0.185	0.80722	D	1	P	0.41159	0.74	P	0.46275	0.51	T	0.34675	-0.9819	10	0.54805	T	0.06	-22.5842	19.7363	0.96205	0.0:1.0:0.0:0.0	.	646	O94806	KPCD3_HUMAN	K	646	ENSP00000368356:E646K;ENSP00000234179:E646K	ENSP00000234179:E646K	E	-	1	0	PRKD3	37340980	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.652000	0.90054	0.650000	0.86243	GAA		0.393	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3		NM_005813		12	46	0	0	0	0.09319	0	12	46		
PRKD3	23683	broad.mit.edu	37	2	37487528	37487528	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:37487528C>G	ENST00000379066.1	-	15	2647		c.e15-1		PRKD3_ENST00000234179.2_Splice_Site			O94806	KPCD3_HUMAN	protein kinase D3						intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GGTGCAAATTCTGAAGAGAGG	0.388																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.e14-1		protein kinase D3							66.0	63.0	64.0					2																	37487528		2203	4300	6503	SO:0001630	splice_region_variant	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37487528C>G	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1885-1G>C	2.37:g.37487528C>G						PRKD3_uc002rqe.1_Splice_Site_p.N229_splice	p.N629_splice	NM_005813	NP_005804	O94806	KPCD3_HUMAN			14	2440	-		all_hematologic(82;0.21)						D6W587|Q53TR7|Q8NEL8	Splice_Site	SNP	ENST00000379066.1	37	c.1885_splice	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891038	0.72524	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443977	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2108	0.93753	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKD3	37341032	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.666000	0.83877	2.536000	0.85505	0.650000	0.86243	.		0.388	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3		NM_005813	Intron	7	37	0	0	0	0.038147	0	7	37		
PSME4	23198	broad.mit.edu	37	2	54167130	54167130	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:54167130C>T	ENST00000404125.1	-	4	563	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAATATTTTCTACAGAACTG	0.343																																						uc002rxp.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(508-510)GAA>AAA		proteasome (prosome, macropain) activator							84.0	91.0	89.0					2																	54167130		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54167130C>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.508G>A	2.37:g.54167130C>T	ENSP00000384211:p.Glu170Lys					PSME4_uc010yop.1_Missense_Mutation_p.E56K|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	p.E170K	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		4	564	-			170					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.508G>A	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222259	0.79464	.	.	ENSG00000068878	ENST00000404125	T	0.05382	3.45	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.05364	0.0142	L	0.38649	1.16	0.80722	D	1	P	0.39759	0.687	B	0.30029	0.11	T	0.32771	-0.9894	10	0.06099	T	0.92	.	19.4699	0.94959	0.0:1.0:0.0:0.0	.	170	Q14997	PSME4_HUMAN	K	170	ENSP00000384211:E170K	ENSP00000374643:E170K	E	-	1	0	PSME4	54020634	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.567000	0.82357	2.701000	0.92244	0.460000	0.39030	GAA		0.343	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1		XM_040158		56	57	0	0	0	0.139131	0	56	57		
SPTBN1	6711	broad.mit.edu	37	2	54856191	54856191	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:54856191C>T	ENST00000356805.4	+	14	2201	c.1920C>T	c.(1918-1920)ctC>ctT	p.L640L	SPTBN1_ENST00000333896.5_Silent_p.L627L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	640					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCCGCCGCCTCTGGAAGTTCT	0.592																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(1918-1920)CTC>CTT		spectrin, beta, non-erythrocytic 1 isoform 1							58.0	65.0	63.0					2																	54856191		2202	4300	6502	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856191C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1920C>T	2.37:g.54856191C>T						SPTBN1_uc002rxv.1_Silent_p.L640L|SPTBN1_uc002rxx.2_Silent_p.L627L	p.L640L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	2169	+			640			Spectrin 4.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.1920C>T	CCDS33198.1																																																																																				0.592	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				37	132	0	0	0	0.086207	0	37	132		
SNRNP200	23020	broad.mit.edu	37	2	96957605	96957605	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:96957605C>T	ENST00000323853.5	-	17	2271	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	732	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTGTCTTTCCAGTCTCCTTC	0.567																																						uc002svu.2		NaN																	0				ovary(5)|skin(4)|large_intestine(1)	10						c.(2194-2196)GGA>AGA		activating signal cointegrator 1 complex subunit							64.0	61.0	62.0					2																	96957605		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96957605C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2194G>A	2.37:g.96957605C>T	ENSP00000317123:p.Gly732Arg					SNRNP200_uc002svw.1_5'Flank	p.G732R	NM_014014	NP_054733	O75643	U520_HUMAN			17	2280	-			732			Helicase C-terminal 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2194G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798188	0.90538	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.63744	-0.06	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.097167	0.64402	D	0.000001	T	0.46658	0.1404	N	0.05383	-0.06	0.80722	D	1	B	0.26120	0.142	B	0.19148	0.024	T	0.45862	-0.9232	10	0.87932	D	0	-17.4705	19.6509	0.95805	0.0:1.0:0.0:0.0	.	732	O75643	U520_HUMAN	R	732;407	ENSP00000317123:G732R	ENSP00000317123:G732R	G	-	1	0	SNRNP200	96321332	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.794000	0.85869	2.941000	0.99782	0.655000	0.94253	GGA		0.567	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2		NM_014014		13	52	0	0	0	0.105934	0	13	52		
MAP4K4	9448	broad.mit.edu	37	2	102493575	102493575	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:102493575C>T	ENST00000347699.4	+	24	2917	c.2917C>T	c.(2917-2919)Ctt>Ttt	p.L973F	MAP4K4_ENST00000425019.1_Missense_Mutation_p.L1006F|MAP4K4_ENST00000350198.4_Missense_Mutation_p.L892F|MAP4K4_ENST00000456652.1_Missense_Mutation_p.L772F|MAP4K4_ENST00000302217.5_Missense_Mutation_p.L776F|MAP4K4_ENST00000350878.4_Missense_Mutation_p.L1013F|MAP4K4_ENST00000413150.2_Missense_Mutation_p.L888F|MAP4K4_ENST00000324219.4_Missense_Mutation_p.L1054F	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	973	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AATGGACGTACTTGAGGGCTT	0.433																																						uc002tbg.2		NaN																	0				stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2917-2919)CTT>TTT		mitogen-activated protein kinase kinase kinase							198.0	189.0	192.0					2																	102493575		1992	4169	6161	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102493575C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2917C>T	2.37:g.102493575C>T	ENSP00000314363:p.Leu973Phe					MAP4K4_uc002tbc.2_Missense_Mutation_p.L1054F|MAP4K4_uc002tbd.2_Missense_Mutation_p.L946F|MAP4K4_uc002tbe.2_Missense_Mutation_p.L892F|MAP4K4_uc002tbf.2_Missense_Mutation_p.L1007F|MAP4K4_uc010yvy.1_Missense_Mutation_p.L969F|MAP4K4_uc002tbh.2_Missense_Mutation_p.L891F|MAP4K4_uc002tbi.2_Missense_Mutation_p.L776F|MAP4K4_uc010yvz.1_Missense_Mutation_p.L1013F|MAP4K4_uc002tbk.2_Missense_Mutation_p.L428F|MAP4K4_uc002tbl.2_Missense_Mutation_p.L159F	p.L973F	NM_145687	NP_663720	O95819	M4K4_HUMAN			24	2972	+			973			CNH.|Mediates interaction with RAP2A.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.2917C>T	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.243720|5.243720	0.95272|0.95272	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.06849|.	3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Citron-like (3);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.83138|0.83138	0.5189|0.5189	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.997;1.0;1.0;0.997;0.999;0.999;0.997;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D|.	0.87578|.	0.996;0.995;0.998;0.995;0.991;0.997;0.968;0.991;0.998;0.997|.	D|D	0.84106|0.84106	0.0398|0.0398	10|5	0.87932|.	D|.	0|.	.|.	19.7119|19.7119	0.96099|0.96099	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1013;969;772;776;891;973;1006;892;945;1054|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	F|I	1006;1054;892;776;888;772;973;904;1013|789	ENSP00000392830:L1006F;ENSP00000313644:L1054F;ENSP00000281111:L892F;ENSP00000303600:L776F;ENSP00000389752:L888F;ENSP00000387370:L772F;ENSP00000314363:L973F;ENSP00000409720:L904F;ENSP00000343658:L1013F|.	ENSP00000303600:L776F|.	L|T	+|+	1|2	0|0	MAP4K4|MAP4K4	101860007|101860007	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.994000|0.994000	0.84299|0.84299	6.032000|6.032000	0.70918|0.70918	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	CTT|ACT		0.433	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1		NM_004834		24	37	0	0	0	0.083992	0	24	37		
RANBP2	5903	broad.mit.edu	37	2	109384816	109384816	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:109384816C>G	ENST00000283195.6	+	20	7947	c.7821C>G	c.(7819-7821)atC>atG	p.I2607M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2607					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AATCTTCAATCAACTACACAT	0.328																																						uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(7819-7821)ATC>ATG		RAN binding protein 2							84.0	101.0	95.0					2																	109384816		2161	4204	6365	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109384816C>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7821C>G	2.37:g.109384816C>G	ENSP00000283195:p.Ile2607Met						p.I2607M	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	7947	+			2607					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.7821C>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	2.740	-0.262349	0.05791	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27104	1.69	5.21	1.27	0.21489	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B	0.25955	0.138	B	0.25405	0.06	T	0.27226	-1.0080	9	0.40728	T	0.16	-0.0134	9.5114	0.39078	0.0:0.4389:0.0:0.5611	.	2607	P49792	RBP2_HUMAN	M	1631;2607	ENSP00000283195:I2607M	ENSP00000283195:I2607M	I	+	3	3	RANBP2	108751248	0.000000	0.05858	0.001000	0.08648	0.176000	0.22953	-0.665000	0.05286	0.015000	0.14971	-0.691000	0.03719	ATC		0.328	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		69	220	0	0	0	0.139131	0	69	220		
CFAP221	200373	broad.mit.edu	37	2	120413990	120413990	+	Missense_Mutation	SNP	G	G	A	rs570868554	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:120413990G>A	ENST00000413369.3	+	24	2554	c.2467G>A	c.(2467-2469)Gag>Aag	p.E823K	PCDP1_ENST00000602047.1_Missense_Mutation_p.E537K	NM_001271049.1	NP_001257978												p.E537K(1)				Colorectal(110;0.196)					GAAGCTGCTCGAGGAGATGAG	0.473																																						uc002tmb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1609-1611)GAG>AAG		primary ciliary dyskinesia protein 1							104.0	102.0	103.0					2																	120413990		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120413990G>A																												ENST00000413369.3:c.2467G>A	2.37:g.120413990G>A	ENSP00000393222:p.Glu823Lys						p.E537K	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			25	2701	+	Colorectal(110;0.196)		823						Missense_Mutation	SNP	ENST00000413369.3	37	c.1609G>A	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	G	4.485	0.089859	0.08632	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.29397	1.57	4.68	2.75	0.32379	.	0.203527	0.34411	N	0.003996	T	0.17916	0.0430	L	0.27053	0.805	0.80722	D	1	B	0.24368	0.102	B	0.17979	0.02	T	0.06285	-1.0835	10	0.42905	T	0.14	-28.901	6.097	0.20025	0.1017:0.1899:0.7084:0.0	.	823	Q4G0U5	PCDP1_HUMAN	K	537;823	ENSP00000393222:E823K	ENSP00000295220:E537K	E	+	1	0	AC069154.2	120130460	0.959000	0.32827	0.862000	0.33874	0.052000	0.14988	1.643000	0.37217	1.336000	0.45506	-0.244000	0.11960	GAG		0.473	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1				10	45	0	0	0	0.080935	0	10	45		
LIMS2	55679	broad.mit.edu	37	2	128399744	128399744	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128399744C>A	ENST00000355119.4	-	6	705	c.540G>T	c.(538-540)ctG>ctT	p.L180L	LIMS2_ENST00000409254.1_Silent_p.L28L|LIMS2_ENST00000545738.2_Silent_p.L202L|LIMS2_ENST00000410038.1_Silent_p.L28L|LIMS2_ENST00000494613.1_5'Flank|LIMS2_ENST00000409286.1_Silent_p.L28L|LIMS2_ENST00000410011.1_Silent_p.L175L|LIMS2_ENST00000409808.2_Silent_p.L175L|LIMS2_ENST00000409754.1_Silent_p.L28L|LIMS2_ENST00000409455.1_Silent_p.L175L|LIMS2_ENST00000324938.5_Silent_p.L204L	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	180	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GCTCACCCTTCAGCTCGCGGG	0.692																																						uc002tpa.2		NaN																	0					0						c.(538-540)CTG>CTT		LIM and senescent cell antigen-like domains 2							24.0	26.0	25.0					2																	128399744		2198	4295	6493	SO:0001819	synonymous_variant	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128399744C>A	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.540G>T	2.37:g.128399744C>A						LIMS2_uc002tou.2_5'UTR|LIMS2_uc002tov.2_Silent_p.L28L|LIMS2_uc002tow.2_Silent_p.L28L|LIMS2_uc002tox.2_Silent_p.L204L|LIMS2_uc010fmb.2_Silent_p.L90L|LIMS2_uc002toy.2_Silent_p.L175L|LIMS2_uc010yzm.1_Silent_p.L202L|LIMS2_uc002toz.2_Silent_p.L175L|LIMS2_uc002tpb.2_Silent_p.L175L	p.L180L	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	6	706	-	Colorectal(110;0.1)		180			LIM zinc-binding 3.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Silent	SNP	ENST00000355119.4	37	c.540G>T	CCDS54395.1																																																																																				0.692	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2		NM_017980		8	11	1	0	0.00307968	0.038147	0.00348035	8	11		
GPR17	2840	broad.mit.edu	37	2	128408752	128408752	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128408752C>A	ENST00000272644.3	+	3	601	c.527C>A	c.(526-528)gCa>gAa	p.A176E	LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.A176E|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000393018.3_Missense_Mutation_p.A176E|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	176					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCCCTCTACGCACACCTGGCC	0.642																																						uc010yzn.1		NaN																	0					0						c.(526-528)GCA>GAA		G protein-coupled receptor 17 isoform a							108.0	96.0	100.0					2																	128408752		2203	4300	6503	SO:0001583	missense	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408752C>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.527C>A	2.37:g.128408752C>A	ENSP00000272644:p.Ala176Glu					LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.A176E|GPR17_uc010yzo.1_Missense_Mutation_p.A148E|GPR17_uc002tpd.2_Missense_Mutation_p.A148E	p.A176E	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1138	+	Colorectal(110;0.1)	Ovarian(717;0.15)	176			Helical; Name=4; (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.527C>A	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	c	28.0	4.884227	0.91814	.	.	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.45276	0.9;0.9;0.9	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74846	0.3770	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.81982	-0.0683	10	0.87932	D	0	.	19.3366	0.94322	0.0:1.0:0.0:0.0	.	176	Q13304	GPR17_HUMAN	E	176	ENSP00000442982:A176E;ENSP00000272644:A176E;ENSP00000376741:A176E	ENSP00000272644:A176E	A	+	2	0	GPR17	128125222	1.000000	0.71417	0.960000	0.40013	0.955000	0.61496	7.786000	0.85741	2.573000	0.86826	0.655000	0.94253	GCA		0.642	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1				65	96	1	0	3.30712e-30	0.139131	3.9596e-30	65	96		
WDR33	55339	broad.mit.edu	37	2	128464101	128464101	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:128464101C>G	ENST00000322313.4	-	22	3965	c.3807G>C	c.(3805-3807)caG>caC	p.Q1269H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1269					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGGCACTCTCTGAGCAGGTC	0.517																																						uc002tpg.1		NaN																	0					0						c.(3805-3807)CAG>CAC		WD repeat domain 33 isoform 1							58.0	63.0	61.0					2																	128464101		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128464101C>G		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3807G>C	2.37:g.128464101C>G	ENSP00000325377:p.Gln1269His						p.Q1269H	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	22	3990	-	Colorectal(110;0.1)		1269					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3807G>C	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282325	0.59867	.	.	ENSG00000136709	ENST00000322313	D	0.90261	-2.64	5.03	3.23	0.37069	.	0.271754	0.31976	N	0.006767	T	0.78572	0.4304	N	0.08118	0	0.80722	D	1	P	0.50943	0.94	B	0.41571	0.36	T	0.76019	-0.3112	10	0.42905	T	0.14	-6.781	8.1228	0.30982	0.0:0.6906:0.0:0.3094	.	1269	Q9C0J8	WDR33_HUMAN	H	1269	ENSP00000325377:Q1269H	ENSP00000325377:Q1269H	Q	-	3	2	WDR33	128180571	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.027000	0.30115	0.636000	0.30508	0.650000	0.86243	CAG		0.517	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2		NM_018383		17	79	0	0	0	0.0333	0	17	79		
LRP1B	53353	broad.mit.edu	37	2	140990860	140990860	+	Silent	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:140990860T>C	ENST00000389484.3	-	91	14666	c.13695A>G	c.(13693-13695)ttA>ttG	p.L4565L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4565					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCCATATATAATTTTGCAT	0.333										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13693-13695)TTA>TTG		low density lipoprotein-related protein 1B							87.0	84.0	85.0					2																	140990860		2202	4299	6501	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990860T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13695A>G	2.37:g.140990860T>C		TSP Lung(27;0.18)					p.L4565L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	91	14667	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4565			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.13695A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	4.820	0.152499	0.09185	.	.	ENSG00000168702	ENST00000437977	.	.	.	5.69	-6.13	0.02118	.	.	.	.	.	T	0.63367	0.2505	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65323	-0.6196	4	.	.	.	.	15.7234	0.77732	0.0:0.1166:0.0:0.8834	.	.	.	.	C	764	.	.	Y	-	2	0	LRP1B	140707330	0.889000	0.30405	0.874000	0.34290	0.996000	0.88848	-0.079000	0.11357	-1.387000	0.02095	0.477000	0.44152	TAT		0.333	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		26	14	0	0	0	0.125774	0	26	14		
NEB	4703	broad.mit.edu	37	2	152510589	152510589	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:152510589C>T	ENST00000172853.10	-	52	6979	c.6832G>A	c.(6832-6834)Gaa>Aaa	p.E2278K	NEB_ENST00000604864.1_Missense_Mutation_p.E2278K|NEB_ENST00000397345.3_Missense_Mutation_p.E2278K|NEB_ENST00000427231.2_Missense_Mutation_p.E2278K|NEB_ENST00000603639.1_Missense_Mutation_p.E2278K|NEB_ENST00000409198.1_Missense_Mutation_p.E2278K			P20929	NEBU_HUMAN	nebulin	2278					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAAAGCTTCTTCCCATCCA	0.333																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(6832-6834)GAA>AAA		nebulin isoform 3							86.0	84.0	85.0					2																	152510589		1818	4073	5891	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152510589C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6832G>A	2.37:g.152510589C>T	ENSP00000172853:p.Glu2278Lys						p.E2278K	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	52	7023	-			2278			Nebulin 60.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.6832G>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.046004	0.75846	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.72	5.72	0.89469	.	0.195686	0.43110	D	0.000620	T	0.32971	0.0847	L	0.52206	1.635	0.80722	D	1	P	0.35307	0.494	B	0.36092	0.217	T	0.03139	-1.1068	10	0.27785	T	0.31	.	18.6583	0.91462	0.0:1.0:0.0:0.0	.	2278	P20929	NEBU_HUMAN	K	2278	ENSP00000386259:E2278K;ENSP00000380505:E2278K;ENSP00000416578:E2278K;ENSP00000172853:E2278K	ENSP00000172853:E2278K	E	-	1	0	NEB	152218835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.647000	0.37260	2.689000	0.91719	0.650000	0.86243	GAA		0.333	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		12	38	0	0	0	0.080935	0	12	38		
PRPF40A	55660	broad.mit.edu	37	2	153515522	153515522	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:153515522C>G	ENST00000410080.1	-	24	3049	c.2508G>C	c.(2506-2508)gaG>gaC	p.E836D		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	863					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TATAACTTCTCTCTGAGTAGC	0.323																																						uc002tyh.3		NaN																	0					0						c.(2506-2508)GAG>GAC		formin binding protein 3							46.0	46.0	46.0					2																	153515522		1807	4072	5879	SO:0001630	splice_region_variant	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153515522C>G	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2507-1G>C	2.37:g.153515522C>G						PRPF40A_uc002tyg.3_Missense_Mutation_p.E292D|PRPF40A_uc010zcd.1_Missense_Mutation_p.E787D	p.E836D	NM_017892	NP_060362	O75400	PR40A_HUMAN			24	2530	-			863					O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	c.2508G>C	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093476	0.36952	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.33216	1.42	5.25	4.34	0.51931	.	0.047257	0.85682	D	0.000000	T	0.23014	0.0556	L	0.36672	1.1	0.58432	D	0.999995	B;B	0.20780	0.048;0.048	B;B	0.18263	0.021;0.021	T	0.04537	-1.0944	10	0.31617	T	0.26	.	9.8045	0.40783	0.0:0.8366:0.0:0.1634	.	863;836	O75400;E9PFS0	PR40A_HUMAN;.	D	836;845;732;787	ENSP00000386458:E836D	ENSP00000348770:E845D	E	-	3	2	PRPF40A	153223768	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.250000	0.51445	1.298000	0.44778	0.558000	0.71614	GAG		0.323	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2		XM_371575	Missense_Mutation	5	15	0	0	0	0.014758	0	5	15		
SCN3A	6328	broad.mit.edu	37	2	166003408	166003408	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:166003408C>T	ENST00000360093.3	-	12	2003	c.1512G>A	c.(1510-1512)aaG>aaA	p.K504K	SCN3A_ENST00000409101.3_Silent_p.K504K|SCN3A_ENST00000283254.7_Silent_p.K504K|RN7SL455P_ENST00000580629.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	504					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCTTCTTTTCTTCCTTCGGT	0.438																																						uc002ucx.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(1510-1512)AAG>AAA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						212.0	209.0	210.0					2																	166003408		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166003408C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1512G>A	2.37:g.166003408C>T						SCN3A_uc002ucy.2_Silent_p.K504K|SCN3A_uc002ucz.2_Silent_p.K504K|SCN3A_uc002uda.1_Silent_p.K373K|SCN3A_uc002udb.1_Silent_p.K373K	p.K504K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			12	2004	-			504					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.1512G>A																																																																																					0.438	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_006922		38	148	0	0	0	0.069456	0	38	148		
SCN3A	6328	broad.mit.edu	37	2	166019259	166019259	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:166019259C>G	ENST00000360093.3	-	8	1265	c.774G>C	c.(772-774)ctG>ctC	p.L258L	SCN3A_ENST00000409101.3_Silent_p.L258L|SCN3A_ENST00000283254.7_Silent_p.L258L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	258					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAACACGCTCAGACAGAACA	0.483																																						uc002ucx.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(772-774)CTG>CTC		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						131.0	126.0	128.0					2																	166019259		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166019259C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.774G>C	2.37:g.166019259C>G						SCN3A_uc002ucy.2_Silent_p.L258L|SCN3A_uc002ucz.2_Silent_p.L258L|SCN3A_uc002uda.1_Silent_p.L127L|SCN3A_uc002udb.1_Silent_p.L127L	p.L258L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			8	1266	-			258			Helical; Name=S5 of repeat I; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.774G>C																																																																																					0.483	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_006922		23	82	0	0	0	0.083992	0	23	82		
GALNT3	2591	broad.mit.edu	37	2	166627186	166627186	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:166627186T>A	ENST00000392701.3	-	2	800	c.25A>T	c.(25-27)Aaa>Taa	p.K9*		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	9					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATGTGTAATTTTACTAGTCGC	0.284																																						uc010fph.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(25-27)AAA>TAA		polypeptide N-acetylgalactosaminyltransferase 3							41.0	47.0	45.0					2																	166627186		2083	4259	6342	SO:0001587	stop_gained	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166627186T>A		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.25A>T	2.37:g.166627186T>A	ENSP00000376465:p.Lys9*					GALNT3_uc010fpi.1_Nonsense_Mutation_p.K9*|GALNT3_uc002udi.2_Nonsense_Mutation_p.K9*	p.K9*	NM_004482	NP_004473	Q14435	GALT3_HUMAN			2	412	-			9			Cytoplasmic (Potential).		Q53TG9|Q7Z476	Nonsense_Mutation	SNP	ENST00000392701.3	37	c.25A>T	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	T	36	5.968775	0.97156	.	.	ENSG00000115339	ENST00000392701;ENST00000412248;ENST00000431484;ENST00000414977;ENST00000422973;ENST00000447156	.	.	.	5.8	4.58	0.56647	.	1.198320	0.05857	N	0.622337	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	12.6765	0.56897	0.0:0.0:0.1375:0.8625	.	.	.	.	X	9	.	ENSP00000376465:K9X	K	-	1	0	GALNT3	166335432	0.998000	0.40836	0.979000	0.43373	0.491000	0.33493	3.206000	0.51098	2.206000	0.71126	0.528000	0.53228	AAA		0.284	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2		NM_004482		35	46	0	0	0	0.069456	0	35	46		
SCN9A	6335	broad.mit.edu	37	2	167151173	167151173	+	Splice_Site	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:167151173C>T	ENST00000409435.1	-	7	901		c.e7-1		AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Splice_Site|SCN9A_ENST00000303354.6_Splice_Site|SCN9A_ENST00000375387.4_Splice_Site			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit						behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAAAATATTCTGTTGAAGAA	0.303																																						uc010fpl.2		NaN																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.e8-1		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						45.0	44.0	44.0					2																	167151173		1797	4059	5856	SO:0001630	splice_region_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167151173C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.902-1G>A	2.37:g.167151173C>T						uc002udp.2_RNA|SCN9A_uc002udr.1_Splice_Site_p.K172_splice|SCN9A_uc002uds.1_Splice_Site_p.K172_splice|SCN9A_uc002udt.1_Splice_Site_p.K172_splice	p.K301_splice	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			8	1243	-								A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Splice_Site	SNP	ENST00000409435.1	37	c.902_splice	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642169	0.47153	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3148	0.87220	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN9A	166859419	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	7.709000	0.84645	2.242000	0.73789	0.484000	0.47621	.		0.303	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1		NM_002977	Intron	6	31	0	0	0	0.021553	0	6	31		
CDCA7	83879	broad.mit.edu	37	2	174231089	174231089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:174231089C>T	ENST00000347703.3	+	7	1021	c.877C>T	c.(877-879)Cga>Tga	p.R293*	CDCA7_ENST00000306721.3_Nonsense_Mutation_p.R372*|CDCA7_ENST00000410101.3_Nonsense_Mutation_p.R328*|CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410019.3_Nonsense_Mutation_p.R251*	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	293	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTGGGGCGTTCGAGGCCAGTT	0.522																																						uc002uid.1		NaN																	0				ovary(1)	1						c.(877-879)CGA>TGA		cell division cycle associated 7 isoform 2							112.0	109.0	110.0					2																	174231089		2203	4300	6503	SO:0001587	stop_gained	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174231089C>T	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.877C>T	2.37:g.174231089C>T	ENSP00000272789:p.Arg293*					CDCA7_uc002uic.1_Nonsense_Mutation_p.R372*|CDCA7_uc010zej.1_Nonsense_Mutation_p.R328*|CDCA7_uc010zek.1_Nonsense_Mutation_p.R251*	p.R293*	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		7	1008	+			293			Mediates transcriptional activity.		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Nonsense_Mutation	SNP	ENST00000347703.3	37	c.877C>T	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	C	37	6.256457	0.97417	.	.	ENSG00000144354	ENST00000347703;ENST00000306721;ENST00000410101;ENST00000410019	.	.	.	5.67	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7961	13.5952	0.61984	0.2823:0.7177:0.0:0.0	.	.	.	.	X	293;372;328;251	.	ENSP00000306968:R372X	R	+	1	2	CDCA7	173939335	0.984000	0.35163	0.984000	0.44739	0.985000	0.73830	2.367000	0.44213	1.359000	0.45940	0.655000	0.94253	CGA		0.522	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1		NM_031942		38	71	0	0	0	0.064281	0	38	71		
TTN	7273	broad.mit.edu	37	2	179451491	179451491	+	Silent	SNP	G	G	A	rs575396737		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:179451491G>A	ENST00000591111.1	-	258	59438	c.59214C>T	c.(59212-59214)acC>acT	p.T19738T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.T18811T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.T12506T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Silent_p.T21379T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T12314T|TTN_ENST00000359218.5_Silent_p.T12439T			Q8WZ42	TITIN_HUMAN	titin	19738	Fibronectin type-III 43. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTTCTTGGTCATTTCAG	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		20174	0.0		0.0	False		,,,				2504	0.001					uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(56431-56433)ACC>ACT		titin isoform N2-A							226.0	225.0	225.0					2																	179451491		1936	4144	6080	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451491G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59214C>T	2.37:g.179451491G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T12506T|TTN_uc010zfi.1_Silent_p.T12439T|TTN_uc010zfj.1_Silent_p.T12314T	p.T18811T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		257	56657	-			19738					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.56433C>T																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		57	82	0	0	0	0.139131	0	57	82		
TTN	7273	broad.mit.edu	37	2	179473525	179473525	+	Missense_Mutation	SNP	T	T	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:179473525T>C	ENST00000591111.1	-	224	47514	c.47290A>G	c.(47290-47292)Act>Gct	p.T15764A	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T14837A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T8532A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T17405A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T8340A|TTN_ENST00000359218.5_Missense_Mutation_p.T8465A			Q8WZ42	TITIN_HUMAN	titin	15764	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCCAAAGTGTAGTTTATG	0.378																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(44509-44511)ACT>GCT		titin isoform N2-A							123.0	112.0	115.0					2																	179473525		1856	4104	5960	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179473525T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47290A>G	2.37:g.179473525T>C	ENSP00000465570:p.Thr15764Ala					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T8532A|TTN_uc010zfi.1_Missense_Mutation_p.T8465A|TTN_uc010zfj.1_Missense_Mutation_p.T8340A	p.T14837A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		223	44733	-			15764					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.44509A>G		.	.	.	.	.	.	.	.	.	.	T	9.865	1.197408	0.22037	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.53	4.38	0.52667	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48750	0.1517	L	0.49256	1.55	0.26424	N	0.976048	B;B;B;B	0.23735	0.09;0.09;0.09;0.09	B;B;B;B	0.31442	0.13;0.13;0.13;0.13	T	0.50206	-0.8855	9	0.87932	D	0	.	7.6728	0.28468	0.0:0.2086:0.0:0.7914	.	8340;8465;8532;15764	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	14837;8340;8532;8465;8340	ENSP00000343764:T14837A;ENSP00000434586:T8340A;ENSP00000340554:T8532A;ENSP00000352154:T8465A	ENSP00000340554:T8532A	T	-	1	0	TTN	179181770	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	4.974000	0.63771	0.938000	0.37419	-0.376000	0.06991	ACT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		20	83	0	0	0	0.055883	0	20	83		
ITGA4	3676	broad.mit.edu	37	2	182360109	182360109	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:182360109G>C	ENST00000397033.2	+	13	1781	c.1351G>C	c.(1351-1353)Ggt>Cgt	p.G451R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	451					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGTAGCAGTTGGTGCTTTTCG	0.348																																						uc002unu.2		NaN																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1351-1353)GGT>CGT		integrin alpha 4 precursor	Natalizumab(DB00108)						275.0	241.0	251.0					2																	182360109		1874	4114	5988	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182360109G>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1351G>C	2.37:g.182360109G>C	ENSP00000380227:p.Gly451Arg						p.G451R	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		13	2114	+			451			FG-GAP 7.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1351G>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346899	0.82022	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.65178	-0.14;-0.14	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90061	0.4156	10	0.87932	D	0	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	451	P13612	ITA4_HUMAN	R	451	ENSP00000380227:G451R;ENSP00000233573:G451R	ENSP00000233573:G451R	G	+	1	0	ITGA4	182068354	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.233000	0.89799	2.814000	0.96858	0.655000	0.94253	GGT		0.348	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1				40	75	0	0	0	0.11126	0	40	75		
CLK1	1195	broad.mit.edu	37	2	201726128	201726128	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:201726128C>T	ENST00000321356.4	-	3	358	c.223G>A	c.(223-225)Gag>Aag	p.E75K	Y_RNA_ENST00000516950.1_RNA|CLK1_ENST00000434813.2_Missense_Mutation_p.E117K|CLK1_ENST00000492793.1_5'UTR	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	75					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTTCTGTACTCATCAATGTAG	0.373																																						uc002uwe.2		NaN																	0				pancreas(2)	2						c.(223-225)GAG>AAG		CDC-like kinase 1 isoform 1							130.0	124.0	126.0					2																	201726128		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201726128C>T	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.223G>A	2.37:g.201726128C>T	ENSP00000326830:p.Glu75Lys					CLK1_uc010zhi.1_Missense_Mutation_p.E117K|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA	p.E75K	NM_004071	NP_004062	P49759	CLK1_HUMAN			3	404	-			75					B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.223G>A	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506442	0.64410	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	T;T	0.66460	-0.19;-0.21	4.66	4.66	0.58398	.	0.066128	0.64402	D	0.000017	T	0.66607	0.2806	M	0.76002	2.32	0.43830	D	0.996404	P;P	0.45348	0.856;0.77	B;B	0.40982	0.345;0.156	T	0.69587	-0.5105	10	0.34782	T	0.22	.	14.8507	0.70295	0.0:1.0:0.0:0.0	.	117;75	B4DFW7;P49759	.;CLK1_HUMAN	K	75;75;117	ENSP00000326830:E75K;ENSP00000394734:E117K	ENSP00000326830:E75K	E	-	1	0	CLK1	201434373	0.990000	0.36364	1.000000	0.80357	0.980000	0.70556	3.933000	0.56545	2.297000	0.77311	0.650000	0.86243	GAG		0.373	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2				26	88	0	0	0	0.083992	0	26	88		
ICA1L	130026	broad.mit.edu	37	2	203650663	203650663	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:203650663C>G	ENST00000392237.2	-	13	1468	c.1311G>C	c.(1309-1311)caG>caC	p.Q437H	ICA1L_ENST00000358299.2_Missense_Mutation_p.Q437H	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	437										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTTGGACTCTGTGAAGGCA	0.328																																						uc002uzh.1		NaN																	0					0						c.(1309-1311)CAG>CAC		islet cell autoantigen 1,69kDa-like isoform 1							94.0	101.0	99.0					2																	203650663		2203	4300	6503	SO:0001583	missense	130026							g.chr2:203650663C>G	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.1311G>C	2.37:g.203650663C>G	ENSP00000376070:p.Gln437His					ICA1L_uc002uzi.1_Missense_Mutation_p.Q437H	p.Q437H	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN			13	1475	-			437					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	37	c.1311G>C	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982148	0.34942	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	.	.	.	4.99	4.09	0.47781	Islet cell autoantigen Ica1, C-terminal (1);	1.318350	0.04799	N	0.433023	T	0.51568	0.1682	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34650	-0.9820	9	0.48119	T	0.1	.	8.4717	0.32988	0.0:0.8892:0.0:0.1108	.	437	Q8NDH6	ICA1L_HUMAN	H	437	.	ENSP00000351047:Q437H	Q	-	3	2	ICA1L	203358908	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.902000	0.28459	1.260000	0.44134	0.558000	0.71614	CAG		0.328	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1		NM_138468		38	79	0	0	0	0.104719	0	38	79		
WDR12	55759	broad.mit.edu	37	2	203765749	203765749	+	Splice_Site	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:203765749G>A	ENST00000261015.4	-	3	979	c.230C>T	c.(229-231)tCa>tTa	p.S77L	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TGAACTTACTGATGAGATGTT	0.383																																						uc002uzl.2		NaN																	0					0						c.(229-231)TCA>TTA		WD repeat domain 12 protein							123.0	98.0	106.0					2																	203765749		2203	4300	6503	SO:0001630	splice_region_variant	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203765749G>A	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.231+1C>T	2.37:g.203765749G>A						WDR12_uc010ftt.2_Missense_Mutation_p.S77L	p.S77L	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			3	980	-			77						Missense_Mutation	SNP	ENST00000261015.4	37	c.230C>T	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277064	0.80580	.	.	ENSG00000138442	ENST00000261015	T	0.57595	0.39	5.83	5.83	0.93111	WD40 repeat-like-containing domain (1);	0.049973	0.85682	D	0.000000	T	0.48607	0.1509	L	0.39566	1.225	0.52099	D	0.999946	B;B	0.20261	0.043;0.018	B;B	0.16722	0.016;0.016	T	0.30650	-0.9971	10	0.34782	T	0.22	-5.3595	20.1238	0.97972	0.0:0.0:1.0:0.0	.	77;77	Q53T99;Q9GZL7	.;WDR12_HUMAN	L	77	ENSP00000261015:S77L	ENSP00000261015:S77L	S	-	2	0	WDR12	203473994	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.869000	0.99810	2.756000	0.94617	0.585000	0.79938	TCA		0.383	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4		NM_018256	Missense_Mutation	6	33	0	0	0	0.021553	0	6	33		
PARD3B	117583	broad.mit.edu	37	2	206480357	206480357	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:206480357G>A	ENST00000406610.2	+	23	3645	c.3438G>A	c.(3436-3438)ccG>ccA	p.P1146P	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000358768.2_Silent_p.P1084P|PARD3B_ENST00000349953.3_Silent_p.P1045P|PARD3B_ENST00000351153.1_Silent_p.P1077P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1146	Poly-Pro.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACCCACCCCCGCCAGCTCCCC	0.617																																						uc002var.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(3436-3438)CCG>CCA		par-3 partitioning defective 3 homolog B isoform							68.0	79.0	76.0					2																	206480357		1973	4141	6114	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206480357G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3438G>A	2.37:g.206480357G>A						PARD3B_uc002vao.1_Silent_p.P1045P|PARD3B_uc002vap.1_Silent_p.P1084P|PARD3B_uc002vaq.1_Silent_p.P1077P|uc010fuc.1_5'Flank	p.P1146P	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	23	3645	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1146			Poly-Pro.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.3438G>A																																																																																					0.617	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1		NM_057177		22	76	0	0	0	0.062417	0	22	76		
GPR1	2825	broad.mit.edu	37	2	207041526	207041526	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:207041526C>A	ENST00000407325.2	-	3	808	c.446G>T	c.(445-447)cGa>cTa	p.R149L	GPR1_ENST00000437420.1_Missense_Mutation_p.R149L	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	149					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CTTGAGGGTTCGATGCCGATG	0.463																																						uc002vbl.3		NaN																	0					0						c.(445-447)CGA>CTA		G protein-coupled receptor 1							104.0	102.0	103.0					2																	207041526		2203	4300	6503	SO:0001583	missense	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041526C>A		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.446G>T	2.37:g.207041526C>A	ENSP00000384345:p.Arg149Leu					GPR1_uc010fue.2_Missense_Mutation_p.R149L|GPR1_uc010fuf.2_Missense_Mutation_p.R149L	p.R149L	NM_005279	NP_005270	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	832	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	149			Cytoplasmic (Potential).		A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	c.446G>T	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027104	0.75390	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.84	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.069594	0.64402	D	0.000011	T	0.67505	0.2900	M	0.90922	3.16	0.54753	D	0.999989	D	0.89917	1.0	D	0.77004	0.989	T	0.76435	-0.2960	10	0.87932	D	0	.	14.7009	0.69154	0.0:0.931:0.0:0.069	.	149	P46091	GPR1_HUMAN	L	149	ENSP00000384345:R149L;ENSP00000397535:R149L;ENSP00000414836:R149L;ENSP00000391146:R149L	ENSP00000384345:R149L	R	-	2	0	GPR1	206749771	1.000000	0.71417	0.763000	0.31416	0.774000	0.43823	3.951000	0.56684	1.482000	0.48325	0.650000	0.86243	CGA		0.463	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2		NM_001098199		17	48	1	0	1.67942e-08	0.038395	1.94251e-08	17	48		
GMPPA	29926	broad.mit.edu	37	2	220367145	220367145	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:220367145G>A	ENST00000358215.3	+	6	840	c.471G>A	c.(469-471)gaG>gaA	p.E157E	GMPPA_ENST00000341142.3_Silent_p.E157E|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Silent_p.E157E|GMPPA_ENST00000373917.3_Silent_p.E157E|GMPPA_ENST00000313597.5_Silent_p.E157E	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	157					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GCATCGTTGAGAATCCACAGA	0.582																																						uc002vlr.2		NaN																	0					0						c.(469-471)GAG>GAA		GDP-mannose pyrophosphorylase A							78.0	63.0	68.0					2																	220367145		2203	4300	6503	SO:0001819	synonymous_variant	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220367145G>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.471G>A	2.37:g.220367145G>A						GMPPA_uc002vls.2_Silent_p.E157E|GMPPA_uc002vlt.2_Silent_p.E157E|GMPPA_uc002vlu.2_Silent_p.E157E|GMPPA_uc002vlv.2_Silent_p.E157E|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Silent_p.E157E	p.E157E	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	6	539	+		Renal(207;0.0183)	157					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Silent	SNP	ENST00000358215.3	37	c.471G>A	CCDS2441.1																																																																																				0.582	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1		NM_013335		10	24	0	0	0	0.069234	0	10	24		
SPHKAP	80309	broad.mit.edu	37	2	228883342	228883342	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:228883342C>T	ENST00000392056.3	-	7	2274	c.2228G>A	c.(2227-2229)aGa>aAa	p.R743K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R743K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	743						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCCCTCCTTCTGATGGTCTC	0.473																																						uc002vpq.2		NaN																	0				skin(5)|ovary(4)|lung(1)	10						c.(2227-2229)AGA>AAA		sphingosine kinase type 1-interacting protein							144.0	137.0	139.0					2																	228883342		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883342C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2228G>A	2.37:g.228883342C>T	ENSP00000375909:p.Arg743Lys					SPHKAP_uc002vpp.2_Missense_Mutation_p.R743K|SPHKAP_uc010zlx.1_Missense_Mutation_p.R743K	p.R743K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2275	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	743					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2228G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072484	0.01918	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11821	2.74;2.74	5.27	2.4	0.29515	.	0.733221	0.14307	N	0.327931	T	0.10508	0.0257	L	0.50333	1.59	0.09310	N	1	B;B	0.28933	0.003;0.228	B;B	0.30855	0.003;0.121	T	0.38200	-0.9672	10	0.05436	T	0.98	.	6.8037	0.23766	0.0:0.5777:0.2686:0.1537	.	743;743	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	743	ENSP00000375909:R743K;ENSP00000339886:R743K	ENSP00000339886:R743K	R	-	2	0	SPHKAP	228591586	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-0.265000	0.08644	0.276000	0.22118	0.467000	0.42956	AGA		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		5	125	0	0	0	0.014758	0	5	125		
SPHKAP	80309	broad.mit.edu	37	2	228973649	228973649	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:228973649G>A	ENST00000392056.3	-	3	191	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R49C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	49						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.R49C(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTATTGCTGCGAAGAACCTGG	0.413																																						uc002vpq.2		NaN																	2	Substitution - Missense(2)		large_intestine(2)	skin(5)|ovary(4)|lung(1)	10						c.(145-147)CGC>TGC		sphingosine kinase type 1-interacting protein							58.0	61.0	60.0					2																	228973649		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228973649G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.145C>T	2.37:g.228973649G>A	ENSP00000375909:p.Arg49Cys					SPHKAP_uc002vpp.2_Missense_Mutation_p.R49C|SPHKAP_uc010zlx.1_Missense_Mutation_p.R49C	p.R49C	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	3	192	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	49					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.145C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233443	0.22626	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.38077	1.16;1.16	5.55	0.466	0.16716	.	0.259855	0.38217	N	0.001764	T	0.14787	0.0357	N	0.04508	-0.205	0.42338	D	0.992323	B;B	0.15719	0.014;0.008	B;B	0.08055	0.003;0.003	T	0.05115	-1.0905	10	0.44086	T	0.13	-2.3443	7.349	0.26680	0.4683:0.0:0.5317:0.0	.	49;49	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	C	49	ENSP00000375909:R49C;ENSP00000339886:R49C	ENSP00000339886:R49C	R	-	1	0	SPHKAP	228681893	0.997000	0.39634	0.989000	0.46669	0.748000	0.42578	0.689000	0.25437	0.170000	0.19704	-0.150000	0.13652	CGC		0.413	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		46	67	0	0	0	0.124865	0	46	67		
DGKD	8527	broad.mit.edu	37	2	234358738	234358738	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:234358738G>A	ENST00000264057.2	+	16	2011	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	DGKD_ENST00000409813.3_Missense_Mutation_p.E623K	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	667					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTCCCACAGCGAGAGCTTCGG	0.622																																						uc002vui.1		NaN																	0				central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(1999-2001)GAG>AAG		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						55.0	53.0	53.0					2																	234358738		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234358738G>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1999G>A	2.37:g.234358738G>A	ENSP00000264057:p.Glu667Lys					DGKD_uc002vuj.1_Missense_Mutation_p.E623K|DGKD_uc010fyh.1_Missense_Mutation_p.E534K|DGKD_uc010fyi.1_RNA	p.E667K	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	16	2011	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	667					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.1999G>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379757	0.24944	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79454	-1.11;-1.27	4.37	4.37	0.52481	.	0.448629	0.19364	N	0.116076	T	0.64864	0.2637	L	0.39898	1.24	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.11329	0.001;0.006;0.0	T	0.47114	-0.9142	10	0.05959	T	0.93	.	11.4266	0.50014	0.0968:0.0:0.9032:0.0	.	551;623;667	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	K	667;623	ENSP00000264057:E667K;ENSP00000386455:E623K	ENSP00000264057:E667K	E	+	1	0	DGKD	234023477	1.000000	0.71417	0.721000	0.30653	0.819000	0.46315	3.633000	0.54295	2.174000	0.68829	0.561000	0.74099	GAG		0.622	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2		NM_003648		6	38	0	0	0	0.038147	0	6	38		
AGAP1	116987	broad.mit.edu	37	2	236617866	236617866	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:236617866C>T	ENST00000304032.8	+	2	787	c.207C>T	c.(205-207)gtC>gtT	p.V69V	AGAP1_ENST00000409538.1_Silent_p.V334V|AGAP1_ENST00000409457.1_Silent_p.V69V|AGAP1_ENST00000336665.5_Silent_p.V69V	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	69	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)			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						GTCGATCTGTCCCGGAGCTCA	0.557																																						uc002vvs.2		NaN																	0				ovary(2)|skin(1)	3						c.(205-207)GTC>GTT		centaurin, gamma 2 isoform 1							190.0	174.0	179.0					2																	236617866		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.chr2:236617866C>T	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.207C>T	2.37:g.236617866C>T						AGAP1_uc002vvt.2_Silent_p.V69V	p.V69V	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			2	802	+			69			Small GTPase-like.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.207C>T	CCDS33408.1																																																																																				0.557	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2		NM_014914		43	151	0	0	0	0.139131	0	43	151		
ASB18	401036	broad.mit.edu	37	2	237150037	237150037	+	Missense_Mutation	SNP	C	C	T	rs372467826		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:237150037C>T	ENST00000409749.3	-	2	213	c.214G>A	c.(214-216)Gac>Aac	p.D72N	AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000330842.6_Missense_Mutation_p.D43N	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	72					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		TTCAGATGGTCGAGGTCCCCT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		17285	0.001		0.0	False		,,,				2504	0.0					uc010znh.1		NaN																	0				ovary(1)	1						c.(214-216)GAC>AAC		ankyrin repeat and SOCS box-containing 18		C	ASN/ASP	0,3938		0,0,1969	82.0	82.0	82.0		214	2.2	0.2	2		82	1,8299		0,1,4149	no	missense	ASB18	NM_212556.2	23	0,1,6118	TT,TC,CC		0.012,0.0,0.0082	benign	72/467	237150037	1,12237	1969	4150	6119	SO:0001583	missense	401036				intracellular signal transduction			g.chr2:237150037C>T	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.214G>A	2.37:g.237150037C>T	ENSP00000386532:p.Asp72Asn					ASB18_uc010fyp.1_Missense_Mutation_p.D43N	p.D72N	NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	2	214	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	72					B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	37	c.214G>A	CCDS46548.1	.	.	.	.	.	.	.	.	.	.	C	1.448	-0.565844	0.03910	0.0	1.2E-4	ENSG00000182177	ENST00000330842;ENST00000409749	T;T	0.55930	0.49;0.49	5.12	2.16	0.27623	Ankyrin repeat-containing domain (1);	2.189660	0.01852	N	0.036017	T	0.38268	0.1034	L	0.28556	0.865	0.09310	N	0.999995	B;B	0.24651	0.039;0.108	B;B	0.16722	0.016;0.005	T	0.12041	-1.0563	10	0.12103	T	0.63	.	4.617	0.12432	0.0:0.3619:0.3452:0.2928	.	72;43	Q6ZVZ8;Q6ZVZ8-2	ASB18_HUMAN;.	N	43;72	ENSP00000329970:D43N;ENSP00000386532:D72N	ENSP00000329970:D43N	D	-	1	0	ASB18	236814776	0.030000	0.19436	0.160000	0.22671	0.015000	0.08874	0.117000	0.15583	0.116000	0.18110	0.655000	0.94253	GAC		0.517	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1		NM_212556		26	28	0	0	0	0.099896	0	26	28		
ANO7	50636	broad.mit.edu	37	2	242128095	242128095	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:242128095G>A	ENST00000274979.8	+	1	172	c.69G>A	c.(67-69)gtG>gtA	p.V23V	ANO7_ENST00000402530.3_Silent_p.V23V|ANO7_ENST00000402430.3_Silent_p.V23V	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	23					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GTCCCGCAGTGAGGACGGGAC	0.677																																						uc002wax.2		NaN																	0				pancreas(2)|central_nervous_system(1)	3						c.(67-69)GTG>GTA		transmembrane protein 16G isoform NGEP long							38.0	40.0	39.0					2																	242128095		2203	4300	6503	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242128095G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.69G>A	2.37:g.242128095G>A						ANO7_uc002waw.2_Silent_p.V23V	p.V23V	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			1	172	+			23			Cytoplasmic (Potential).		Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.69G>A	CCDS33423.1																																																																																				0.677	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1		NM_001001891		26	34	0	0	0	0.108266	0	26	34		
MCM8	84515	broad.mit.edu	37	20	5937805	5937805	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937805G>C	ENST00000378896.3	+	6	897	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	MCM8_ENST00000378883.1_Missense_Mutation_p.E174Q|MCM8_ENST00000265187.4_Missense_Mutation_p.E174Q|MCM8_ENST00000378886.2_Missense_Mutation_p.E174Q	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	174					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GCATGCAGCTGAGTTACAAGC	0.368																																						uc002wmi.2		NaN																	0				skin(1)	1						c.(520-522)GAG>CAG		minichromosome maintenance complex component 8							131.0	118.0	123.0					20																	5937805		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5937805G>C	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.520G>C	20.37:g.5937805G>C	ENSP00000368174:p.Glu174Gln					MCM8_uc002wmj.2_Missense_Mutation_p.E174Q|MCM8_uc002wmk.2_Missense_Mutation_p.E174Q|MCM8_uc002wml.2_Missense_Mutation_p.E174Q|MCM8_uc010gbp.2_Missense_Mutation_p.E174Q	p.E174Q	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			6	897	+			174					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.520G>C	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948338	0.53186	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.03212	4.12;4.01;4.09;4.12	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);	0.052421	0.85682	D	0.000000	T	0.07818	0.0196	M	0.70595	2.14	0.58432	D	0.999992	B;B;B;B	0.28291	0.05;0.206;0.099;0.011	B;B;B;B	0.30646	0.022;0.118;0.096;0.01	T	0.33701	-0.9858	10	0.13853	T	0.58	-24.5765	19.3324	0.94297	0.0:0.0:1.0:0.0	.	174;174;174;174	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Q	174	ENSP00000368174:E174Q;ENSP00000368161:E174Q;ENSP00000368164:E174Q;ENSP00000265187:E174Q	ENSP00000265187:E174Q	E	+	1	0	MCM8	5885805	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.019000	0.70818	2.571000	0.86741	0.655000	0.94253	GAG		0.368	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1		NM_032485		6	42	0	0	0	0.038147	0	6	42		
MCM8	84515	broad.mit.edu	37	20	5937835	5937835	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937835G>A	ENST00000378896.3	+	6	927	c.550G>A	c.(550-552)Gat>Aat	p.D184N	MCM8_ENST00000378883.1_Missense_Mutation_p.D184N|MCM8_ENST00000265187.4_Missense_Mutation_p.D184N|MCM8_ENST00000378886.2_Missense_Mutation_p.D184N	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	184					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATTGTCTAATGATGGAGAAAC	0.383																																						uc002wmi.2		NaN																	0				skin(1)	1						c.(550-552)GAT>AAT		minichromosome maintenance complex component 8							142.0	129.0	133.0					20																	5937835		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5937835G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.550G>A	20.37:g.5937835G>A	ENSP00000368174:p.Asp184Asn					MCM8_uc002wmj.2_Missense_Mutation_p.D184N|MCM8_uc002wmk.2_Missense_Mutation_p.D184N|MCM8_uc002wml.2_Missense_Mutation_p.D184N|MCM8_uc010gbp.2_Missense_Mutation_p.D184N	p.D184N	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			6	927	+			184					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.550G>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628433	0.46944	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.47	3.48	0.39840	Nucleic acid-binding, OB-fold-like (1);	0.344895	0.33553	N	0.004782	T	0.09291	0.0229	L	0.44542	1.39	0.30963	N	0.72349	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.05305	-1.0893	10	0.34782	T	0.22	-7.1583	8.2373	0.31634	0.1493:0.1276:0.7231:0.0	.	184;184;184;184	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	N	184	ENSP00000368174:D184N;ENSP00000368161:D184N;ENSP00000368164:D184N;ENSP00000265187:D184N	ENSP00000265187:D184N	D	+	1	0	MCM8	5885835	0.959000	0.32827	0.999000	0.59377	0.995000	0.86356	2.009000	0.40903	1.271000	0.44313	0.655000	0.94253	GAT		0.383	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1		NM_032485		6	36	0	0	0	0.038147	0	6	36		
MCM8	84515	broad.mit.edu	37	20	5937839	5937839	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:5937839G>A	ENST00000378896.3	+	6	931	c.554G>A	c.(553-555)gGa>gAa	p.G185E	MCM8_ENST00000378883.1_Missense_Mutation_p.G185E|MCM8_ENST00000265187.4_Missense_Mutation_p.G185E|MCM8_ENST00000378886.2_Missense_Mutation_p.G185E	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	185					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TCTAATGATGGAGAAACAATG	0.383																																						uc002wmi.2		NaN																	0				skin(1)	1						c.(553-555)GGA>GAA		minichromosome maintenance complex component 8							144.0	130.0	135.0					20																	5937839		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5937839G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.554G>A	20.37:g.5937839G>A	ENSP00000368174:p.Gly185Glu					MCM8_uc002wmj.2_Missense_Mutation_p.G185E|MCM8_uc002wmk.2_Missense_Mutation_p.G185E|MCM8_uc002wml.2_Missense_Mutation_p.G185E|MCM8_uc010gbp.2_Missense_Mutation_p.G185E	p.G185E	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			6	931	+			185					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.554G>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612969	0.28712	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);	0.172478	0.51477	D	0.000081	T	0.07548	0.0190	L	0.36672	1.1	0.36415	D	0.863946	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.12604	-1.0541	10	0.02654	T	1	-9.8892	9.8954	0.41316	0.1504:0.0:0.8496:0.0	.	185;185;185;185	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	E	185	ENSP00000368174:G185E;ENSP00000368161:G185E;ENSP00000368164:G185E;ENSP00000265187:G185E	ENSP00000265187:G185E	G	+	2	0	MCM8	5885839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.608000	0.46308	2.571000	0.86741	0.655000	0.94253	GGA		0.383	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1		NM_032485		5	37	0	0	0	0.02938	0	5	37		
RBBP9	10741	broad.mit.edu	37	20	18474623	18474623	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:18474623G>A	ENST00000337227.4	-	3	302	c.227C>T	c.(226-228)tCt>tTt	p.S76F	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	76					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						GATGGCCCCAGAACTGTGGCC	0.493																																						uc002wqy.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(226-228)TCT>TTT		retinoblastoma binding protein 9							112.0	96.0	101.0					20																	18474623		2203	4300	6503	SO:0001583	missense	10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18474623G>A	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.227C>T	20.37:g.18474623G>A	ENSP00000336866:p.Ser76Phe						p.S76F	NM_006606	NP_006597	O75884	RBBP9_HUMAN			3	303	-			76					D3DW31|Q5JPH9|Q9H1D8	Missense_Mutation	SNP	ENST00000337227.4	37	c.227C>T	CCDS13136.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244460	0.79912	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	T	0.79834	0.4514	M	0.85945	2.785	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.78595	-0.2143	9	0.28530	T	0.3	-17.3235	15.4371	0.75155	0.0:0.0:1.0:0.0	.	76	O75884	RBBP9_HUMAN	F	76	.	ENSP00000336866:S76F	S	-	2	0	RBBP9	18422623	1.000000	0.71417	0.938000	0.37757	0.968000	0.65278	6.617000	0.74210	2.590000	0.87494	0.655000	0.94253	TCT		0.493	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1		NM_006606		23	125	0	0	0	0.083992	0	23	125		
SPAG4	6676	broad.mit.edu	37	20	34206013	34206013	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:34206013C>G	ENST00000374273.3	+	5	655	c.543C>G	c.(541-543)ttC>ttG	p.F181L	SPAG4_ENST00000462896.1_Intron	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	181					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CTCCAGCATTCTGGCTGGGGC	0.557																																						uc002xdb.1		NaN																	0					0						c.(541-543)TTC>TTG		sperm associated antigen 4							61.0	65.0	63.0					20																	34206013		2203	4300	6503	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34206013C>G	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.543C>G	20.37:g.34206013C>G	ENSP00000363391:p.Phe181Leu					SPAG4_uc010zvi.1_Missense_Mutation_p.F104L	p.F181L	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		5	660	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		181			Helical; (Potential).		O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.543C>G	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	C	0.799	-0.756168	0.03019	.	.	ENSG00000061656	ENST00000374273;ENST00000454819	T;T	0.08896	3.04;3.04	4.91	2.93	0.34026	.	0.586407	0.16726	N	0.202048	T	0.01353	0.0044	N	0.00116	-2.08	0.25432	N	0.988174	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43343	-0.9397	10	0.02654	T	1	-18.5205	6.6214	0.22806	0.0:0.7218:0.1815:0.0967	.	56;181	C9JJZ6;Q9NPE6	.;SPAG4_HUMAN	L	181;56	ENSP00000363391:F181L;ENSP00000396670:F56L	ENSP00000363391:F181L	F	+	3	2	SPAG4	33669427	0.964000	0.33143	1.000000	0.80357	0.290000	0.27261	0.171000	0.16685	0.751000	0.32900	0.561000	0.74099	TTC		0.557	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1		NM_003116		23	105	0	0	0	0.108266	0	23	105		
BCAS1	8537	broad.mit.edu	37	20	52645063	52645063	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:52645063G>A	ENST00000395961.3	-	4	757	c.591C>T	c.(589-591)ttC>ttT	p.F197F	BCAS1_ENST00000371435.2_Silent_p.F197F|BCAS1_ENST00000371440.3_Silent_p.F197F|BCAS1_ENST00000411563.1_Silent_p.F100F	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	197						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCAGCTTGAAGAATTTGTCAA	0.557																																						uc002xws.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(589-591)TTC>TTT		breast carcinoma amplified sequence 1							168.0	164.0	166.0					20																	52645063		2203	4300	6503	SO:0001819	synonymous_variant	8537					cytoplasm	protein binding	g.chr20:52645063G>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.591C>T	20.37:g.52645063G>A						BCAS1_uc010zzb.1_Silent_p.F100F|BCAS1_uc010gim.2_Silent_p.F100F|BCAS1_uc002xwt.2_Silent_p.F197F|BCAS1_uc010gil.1_Silent_p.F197F|BCAS1_uc010zzc.1_Silent_p.F100F	p.F197F	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	929	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		197					A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	c.591C>T	CCDS13444.1																																																																																				0.557	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2		NM_003657		33	205	0	0	0	0.059317	0	33	205		
BCAS1	8537	broad.mit.edu	37	20	52645101	52645101	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:52645101G>A	ENST00000395961.3	-	4	719	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	BCAS1_ENST00000371435.2_Missense_Mutation_p.P185S|BCAS1_ENST00000371440.3_Missense_Mutation_p.P185S|BCAS1_ENST00000411563.1_Missense_Mutation_p.P88S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	185						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGCTTGGAGGGAGCTTCTCCT	0.592																																						uc002xws.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(553-555)CCC>TCC		breast carcinoma amplified sequence 1							115.0	118.0	117.0					20																	52645101		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52645101G>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.553C>T	20.37:g.52645101G>A	ENSP00000379290:p.Pro185Ser					BCAS1_uc010zzb.1_Missense_Mutation_p.P88S|BCAS1_uc010gim.2_Missense_Mutation_p.P88S|BCAS1_uc002xwt.2_Missense_Mutation_p.P185S|BCAS1_uc010gil.1_Missense_Mutation_p.P185S|BCAS1_uc010zzc.1_Missense_Mutation_p.P88S	p.P185S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	891	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		185					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.553C>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480763	0.63849	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.11	3.14	0.36123	.	0.359493	0.28448	N	0.015316	T	0.18130	0.0435	L	0.59436	1.845	0.29085	N	0.882469	P;P;P;D;D;D	0.65815	0.738;0.496;0.496;0.995;0.983;0.983	B;B;B;P;P;P	0.61003	0.276;0.178;0.178;0.882;0.651;0.651	T	0.02333	-1.1175	10	0.72032	D	0.01	-2.1464	7.5614	0.27853	0.0874:0.3186:0.5939:0.0	.	88;185;185;185;185;185	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	S	47;185;185;185;88	ENSP00000396361:P47S;ENSP00000360495:P185S;ENSP00000379290:P185S;ENSP00000360490:P185S;ENSP00000397442:P88S	ENSP00000360490:P185S	P	-	1	0	BCAS1	52078508	0.002000	0.14202	0.985000	0.45067	0.791000	0.44710	0.026000	0.13599	0.644000	0.30656	0.563000	0.77884	CCC		0.592	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2		NM_003657		24	154	0	0	0	0.069288	0	24	154		
DIDO1	11083	broad.mit.edu	37	20	61537316	61537316	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr20:61537316G>A	ENST00000266070.4	-	6	1836	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	DIDO1_ENST00000370368.1_Missense_Mutation_p.S504L|DIDO1_ENST00000395335.2_Missense_Mutation_p.S504L|DIDO1_ENST00000370371.4_Missense_Mutation_p.S504L|DIDO1_ENST00000370366.1_Missense_Mutation_p.S504L|DIDO1_ENST00000266071.5_Missense_Mutation_p.S504L|DIDO1_ENST00000395340.1_Missense_Mutation_p.S504L|DIDO1_ENST00000395343.1_Missense_Mutation_p.S504L|DIDO1_ENST00000354665.4_Missense_Mutation_p.S504L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	504					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTCGCCCACGACGGCGTGCT	0.532																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(1510-1512)TCG>TTG		death inducer-obliterator 1 isoform c							147.0	138.0	141.0					20																	61537316		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61537316G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1511C>T	20.37:g.61537316G>A	ENSP00000266070:p.Ser504Leu					DIDO1_uc002yds.1_Missense_Mutation_p.S504L|DIDO1_uc002ydt.1_Missense_Mutation_p.S504L|DIDO1_uc002ydu.1_Missense_Mutation_p.S504L|DIDO1_uc002ydv.1_Missense_Mutation_p.S504L|DIDO1_uc002ydw.1_Missense_Mutation_p.S504L|DIDO1_uc002ydx.1_Missense_Mutation_p.S504L|DIDO1_uc011aao.1_Missense_Mutation_p.S504L	p.S504L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			6	1775	-	Breast(26;5.68e-08)		504					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1511C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489041	0.96323	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.47869	2.0;2.0;1.65;1.65;0.83;0.83;0.83;0.88;0.88	5.85	5.85	0.93711	.	0.000000	0.39083	U	0.001472	T	0.71400	0.3335	M	0.75264	2.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.992	T	0.72824	-0.4176	10	0.87932	D	0	-45.9348	20.1577	0.98120	0.0:0.0:1.0:0.0	.	504;504;504;504	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	L	504	ENSP00000266070:S504L;ENSP00000378752:S504L;ENSP00000378749:S504L;ENSP00000378744:S504L;ENSP00000359397:S504L;ENSP00000359394:S504L;ENSP00000346692:S504L;ENSP00000359391:S504L;ENSP00000266071:S504L	ENSP00000266070:S504L	S	-	2	0	DIDO1	61007761	1.000000	0.71417	0.991000	0.47740	0.872000	0.50106	9.311000	0.96282	2.767000	0.95098	0.655000	0.94253	TCG		0.532	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		10	203	0	0	0	0.069234	0	10	203		
NRIP1	8204	broad.mit.edu	37	21	16337172	16337172	+	Silent	SNP	C	C	T	rs201612350		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:16337172C>T	ENST00000400202.1	-	3	4054	c.3342G>A	c.(3340-3342)acG>acA	p.T1114T	NRIP1_ENST00000400199.1_Silent_p.T1114T|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Silent_p.T1114T			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1114	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T1114T(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AAGAAGCTTTCGTTTCTGCAG	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		18676	0.001		0.0	False		,,,				2504	0.0					uc002yjx.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(3340-3342)ACG>ACA		nuclear receptor interacting protein 1							105.0	106.0	106.0					21																	16337172		2203	4300	6503	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16337172C>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3342G>A	21.37:g.16337172C>T							p.T1114T	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	3940	-			1114					Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.3342G>A	CCDS13568.1																																																																																				0.438	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1		NM_003489		53	85	0	0	0	0.139131	0	53	85		
GABPA	2551	broad.mit.edu	37	21	27137078	27137078	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:27137078G>C	ENST00000354828.3	+	9	1643	c.1116G>C	c.(1114-1116)gaG>gaC	p.E372D	GABPA_ENST00000400075.3_Missense_Mutation_p.E372D	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	372					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TGAACTATGAGAAACTCAGTC	0.333																																						uc002ylx.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1114-1116)GAG>GAC		GA binding protein transcription factor, alpha							88.0	79.0	82.0					21																	27137078		2203	4300	6503	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27137078G>C		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1116G>C	21.37:g.27137078G>C	ENSP00000346886:p.Glu372Asp					GABPA_uc002yly.3_Missense_Mutation_p.E372D	p.E372D	NM_002040	NP_002031	Q06546	GABPA_HUMAN			9	1643	+			372			ETS.		Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.1116G>C	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387577	0.82902	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.16324	2.35;2.35	5.05	5.05	0.67936	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.043926	0.85682	N	0.000000	T	0.25791	0.0628	L	0.45137	1.4	0.80722	D	1	P	0.44816	0.844	P	0.55965	0.788	T	0.01090	-1.1455	10	0.15066	T	0.55	.	12.9339	0.58303	0.0799:0.0:0.9201:0.0	.	372	Q06546	GABPA_HUMAN	D	372	ENSP00000346886:E372D;ENSP00000382948:E372D	ENSP00000346886:E372D	E	+	3	2	GABPA	26058949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.615000	0.61190	2.619000	0.88677	0.655000	0.94253	GAG		0.333	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1		NM_002040		9	50	0	0	0	0.047766	0	9	50		
KRTAP19-5	337972	broad.mit.edu	37	21	31874326	31874326	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:31874326C>T	ENST00000334151.2	-	1	109	c.83G>A	c.(82-84)gGa>gAa	p.G28E		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	28						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						GCTGCCACATCCACAGCCATA	0.597																																						uc011ada.1		NaN																	0					0						c.(82-84)GGA>GAA		keratin associated protein 19-5							149.0	132.0	138.0					21																	31874326		2203	4300	6503	SO:0001583	missense	337972					intermediate filament	protein binding	g.chr21:31874326C>T	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"""Keratin associated proteins"""	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.83G>A	21.37:g.31874326C>T	ENSP00000334985:p.Gly28Glu						p.G28E	NM_181611	NP_853642	Q3LI72	KR195_HUMAN			1	83	-			28					A4IF22	Missense_Mutation	SNP	ENST00000334151.2	37	c.83G>A	CCDS13597.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713733	0.30413	.	.	ENSG00000186977	ENST00000334151	T	0.16897	2.31	5.05	4.15	0.48705	.	0.000000	0.40385	U	0.001120	T	0.39682	0.1087	.	.	.	0.36585	D	0.873772	D	0.71674	0.998	D	0.76071	0.987	T	0.51741	-0.8667	9	0.87932	D	0	.	11.0683	0.47989	0.186:0.814:0.0:0.0	.	28	Q3LI72	KR195_HUMAN	E	28	ENSP00000334985:G28E	ENSP00000334985:G28E	G	-	2	0	KRTAP19-5	30796197	0.161000	0.22892	0.196000	0.23383	0.763000	0.43281	3.268000	0.51585	1.246000	0.43901	0.591000	0.81541	GGA		0.597	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2				92	147	0	0	0	0.139131	0	92	147		
CRYAA	1409	broad.mit.edu	37	21	44592274	44592274	+	Missense_Mutation	SNP	G	G	T	rs548865336		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:44592274G>T	ENST00000291554.2	+	3	498	c.406G>T	c.(406-408)Gat>Tat	p.D136Y	CRYAA_ENST00000398133.1_Missense_Mutation_p.D116Y|CRYAA_ENST00000398132.1_Missense_Mutation_p.D99Y|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	136					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCTGTCTGCCGATGGCATGCT	0.657																																						uc002zdd.1		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(406-408)GAT>TAT		crystallin, alpha A							115.0	88.0	97.0					21																	44592274		2203	4300	6503	SO:0001583	missense	1409				anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	g.chr21:44592274G>T		CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.406G>T	21.37:g.44592274G>T	ENSP00000291554:p.Asp136Tyr						p.D136Y	NM_000394	NP_000385	P02489	CRYAA_HUMAN			3	475	+			136					Q53X53	Missense_Mutation	SNP	ENST00000291554.2	37	c.406G>T	CCDS13695.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.692859	0.48202	.	.	ENSG00000160202	ENST00000291554;ENST00000398133;ENST00000398132	D;D;D	0.94376	-3.41;-3.41;-3.41	3.79	3.79	0.43588	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99806	1.1038	10	0.87932	D	0	-19.9187	15.707	0.77592	0.0:0.0:1.0:0.0	.	136	P02489	CRYAA_HUMAN	Y	136;116;99	ENSP00000291554:D136Y;ENSP00000381201:D116Y;ENSP00000381200:D99Y	ENSP00000291554:D136Y	D	+	1	0	CRYAA	43465343	1.000000	0.71417	0.645000	0.29479	0.205000	0.24178	9.056000	0.93881	1.684000	0.51022	0.298000	0.19748	GAT		0.657	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1				17	74	1	0	0.000422831	0.146539	0.000482769	17	74		
PDXK	8566	broad.mit.edu	37	21	45161560	45161560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr21:45161560G>A	ENST00000291565.4	+	3	338	c.155G>A	c.(154-156)tGg>tAg	p.W52*	PDXK_ENST00000467908.1_Nonsense_Mutation_p.W12*|PDXK_ENST00000468090.1_Nonsense_Mutation_p.W52*	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	52					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TATGCCCACTGGAAGGGCCAA	0.577																																						uc002zdm.3		NaN																	0					0						c.(154-156)TGG>TAG		pyridoxal kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						96.0	88.0	90.0					21																	45161560		2203	4300	6503	SO:0001587	stop_gained	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45161560G>A	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.155G>A	21.37:g.45161560G>A	ENSP00000291565:p.Trp52*					PDXK_uc010gpj.2_Nonsense_Mutation_p.W52*|PDXK_uc002zdn.3_Nonsense_Mutation_p.W52*|PDXK_uc002zdq.3_Intron	p.W52*	NM_003681	NP_003672	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	3	353	+			52					Q7Z2Y0|Q9BS02	Nonsense_Mutation	SNP	ENST00000291565.4	37	c.155G>A	CCDS13699.1	.	.	.	.	.	.	.	.	.	.	G	39	7.336647	0.98221	.	.	ENSG00000160209	ENST00000468090;ENST00000291565;ENST00000463355;ENST00000467908	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7705	14.6274	0.68632	0.0:0.0:1.0:0.0	.	.	.	.	X	52;52;52;12	.	ENSP00000291565:W52X	W	+	2	0	PDXK	43985988	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	8.210000	0.89753	2.255000	0.74692	0.551000	0.68910	TGG		0.577	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1		NM_003681		5	83	0	0	0	0.021553	0	5	83		
COMT	1312	broad.mit.edu	37	22	19951777	19951777	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:19951777C>G	ENST00000361682.6	+	5	952	c.570C>G	c.(568-570)ctC>ctG	p.L190L	MIR4761_ENST00000585066.1_RNA|COMT_ENST00000449653.1_Silent_p.L140L|COMT_ENST00000403710.1_Silent_p.L190L|COMT_ENST00000407537.1_Silent_p.L140L|COMT_ENST00000403184.1_Silent_p.L190L|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000406520.3_Silent_p.L190L	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	190					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	TGGTCTTCCTCGACCACTGGA	0.592																																						uc002zqu.2		NaN																	0				ovary(1)	1						c.(568-570)CTC>CTG		catechol-O-methyltransferase isoform MB-COMT	Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)						171.0	132.0	145.0					22																	19951777		2203	4300	6503	SO:0001819	synonymous_variant	1312				neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding	g.chr22:19951777C>G		CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.570C>G	22.37:g.19951777C>G						COMT_uc002zqt.2_Silent_p.L190L|COMT_uc002zqv.2_Silent_p.L190L|COMT_uc002zqw.2_Silent_p.L190L|COMT_uc011ahd.1_Silent_p.L190L|COMT_uc002zqx.2_Silent_p.L190L	p.L190L	NM_000754	NP_000745	P21964	COMT_HUMAN			5	819	+	Colorectal(54;0.0993)		190					A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Silent	SNP	ENST00000361682.6	37	c.570C>G	CCDS13770.1	.	.	.	.	.	.	.	.	.	.	C	2.756	-0.258911	0.05791	.	.	ENSG00000093010	ENST00000428707	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51100	-0.8748	4	.	.	.	-8.3046	4.4869	0.11794	0.1356:0.3561:0.3449:0.1634	.	.	.	.	G	50	.	.	R	+	1	2	COMT	18331777	0.000000	0.05858	0.024000	0.17045	0.277000	0.26821	-3.004000	0.00651	-3.391000	0.00173	-1.080000	0.02220	CGA		0.592	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2		NM_000754		31	70	0	0	0	0.134883	0	31	70		
SEZ6L	23544	broad.mit.edu	37	22	26761376	26761376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:26761376G>T	ENST00000248933.6	+	13	2733	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*	SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.E880*|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.E816*|SEZ6L_ENST00000402979.1_Nonsense_Mutation_p.E653*|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Nonsense_Mutation_p.E77*|SEZ6L_ENST00000529632.2_Nonsense_Mutation_p.E880*|SEZ6L_ENST00000343706.4_Intron			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	880	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGGGCTGCCTGAAAATGGATA	0.522																																						uc003acb.2		NaN																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2638-2640)GAA>TAA		seizure related 6 homolog (mouse)-like							131.0	120.0	124.0					22																	26761376		2203	4300	6503	SO:0001587	stop_gained	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26761376G>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2638G>T	22.37:g.26761376G>T	ENSP00000248933:p.Glu880*					SEZ6L_uc003acc.2_Nonsense_Mutation_p.E880*|SEZ6L_uc011akc.1_Nonsense_Mutation_p.E880*|SEZ6L_uc003acd.2_Nonsense_Mutation_p.E816*|SEZ6L_uc011akd.1_Nonsense_Mutation_p.E880*|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Nonsense_Mutation_p.E653*|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_RNA	p.E880*	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			13	2794	+			880			Sushi 5.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Nonsense_Mutation	SNP	ENST00000248933.6	37	c.2638G>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	43	10.260347	0.99370	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000402979;ENST00000411842	.	.	.	5.14	5.14	0.70334	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.7745	0.88503	0.0:0.0:1.0:0.0	.	.	.	.	X	880;880;816;880;653;77	.	ENSP00000248933:E880X	E	+	1	0	SEZ6L	25091376	1.000000	0.71417	0.528000	0.27938	0.800000	0.45204	9.086000	0.94088	2.666000	0.90696	0.561000	0.74099	GAA		0.522	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3				100	128	1	0	1.50986e-39	0.139131	1.81266e-39	100	128		
CARD10	29775	broad.mit.edu	37	22	37898637	37898637	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:37898637G>A	ENST00000403299.1	-	12	1975	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	CARD10_ENST00000406271.3_Missense_Mutation_p.R301W|CARD10_ENST00000251973.5_Missense_Mutation_p.R587W			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	587					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)	p.R587G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCACAGCCCCGAGCCAGGAGG	0.617																																						uc003asx.1		NaN																	1	Substitution - Missense(1)		prostate(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6						c.(1759-1761)CGG>TGG		caspase recruitment domain protein 10							54.0	48.0	50.0					22																	37898637		2203	4300	6503	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37898637G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1759C>T	22.37:g.37898637G>A	ENSP00000384570:p.Arg587Trp					CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Missense_Mutation_p.R301W|CARD10_uc003asy.1_Missense_Mutation_p.R587W	p.R587W	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			11	1762	-	Melanoma(58;0.0574)		587					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.1759C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720681	0.68959	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	4.91	2.76	0.32466	.	0.796319	0.11545	N	0.553397	T	0.43831	0.1265	N	0.22421	0.69	0.33060	D	0.533918	D;P	0.69078	0.997;0.675	P;B	0.56434	0.798;0.037	T	0.49551	-0.8928	10	0.39692	T	0.17	-6.9245	5.7873	0.18340	0.1087:0.0:0.6574:0.2339	.	587;301	Q9BWT7;Q8NC81	CAR10_HUMAN;.	W	587;301;587;228;59	ENSP00000384570:R587W;ENSP00000385799:R301W;ENSP00000251973:R587W;ENSP00000416239:R228W;ENSP00000393411:R59W	ENSP00000251973:R587W	R	-	1	2	CARD10	36228583	0.003000	0.15002	0.986000	0.45419	0.908000	0.53690	-0.148000	0.10219	0.486000	0.27676	0.655000	0.94253	CGG		0.617	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1		NM_014550		13	41	0	0	0	0.105934	0	13	41		
TRIOBP	11078	broad.mit.edu	37	22	38155170	38155170	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:38155170C>T	ENST00000406386.3	+	17	6478	c.6223C>T	c.(6223-6225)Ctt>Ttt	p.L2075F	TRIOBP_ENST00000403663.2_Missense_Mutation_p.L362F|TRIOBP_ENST00000407319.2_Missense_Mutation_p.L362F	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2075					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGTTCAGGCTCTTCGGGCCCA	0.652																																						uc003atr.2		NaN																	0				central_nervous_system(1)	1						c.(6223-6225)CTT>TTT		TRIO and F-actin binding protein isoform 6							13.0	14.0	14.0					22																	38155170		2187	4257	6444	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38155170C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6223C>T	22.37:g.38155170C>T	ENSP00000384312:p.Leu2075Phe					TRIOBP_uc003atu.2_Missense_Mutation_p.L1903F|TRIOBP_uc003atv.2_Missense_Mutation_p.L362F|TRIOBP_uc003atw.2_Missense_Mutation_p.L362F|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR	p.L2075F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			17	6494	+	Melanoma(58;0.0574)		2075			Potential.		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.6223C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258529	0.80246	.	.	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663	T	0.25912	1.77	5.45	5.45	0.79879	.	.	.	.	.	T	0.51143	0.1657	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.973	T	0.37979	-0.9682	9	0.34782	T	0.22	.	17.8411	0.88715	0.0:1.0:0.0:0.0	.	362;362;2075	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	F	2075;362;362	ENSP00000384312:L2075F	ENSP00000386026:L362F	L	+	1	0	TRIOBP	36485116	1.000000	0.71417	0.995000	0.50966	0.842000	0.47809	5.104000	0.64584	2.715000	0.92844	0.549000	0.68633	CTT		0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2				5	28	0	0	0	0.021553	0	5	28		
TBC1D22A	25771	broad.mit.edu	37	22	47507475	47507475	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr22:47507475A>C	ENST00000337137.4	+	12	1567	c.1401A>C	c.(1399-1401)gaA>gaC	p.E467D	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.E420D|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.E389D|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.E408D	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	467							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGAGGAAGGAAATACTAGAAG	0.358																																						uc003bib.2		NaN																	0				ovary(1)	1						c.(1399-1401)GAA>GAC		TBC1 domain family, member 22A							91.0	90.0	90.0					22																	47507475		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47507475A>C	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1401A>C	22.37:g.47507475A>C	ENSP00000336724:p.Glu467Asp					TBC1D22A_uc010haf.2_Missense_Mutation_p.E437D|TBC1D22A_uc003bic.2_Missense_Mutation_p.E408D|TBC1D22A_uc003bie.2_Missense_Mutation_p.E389D|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.E420D	p.E467D	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	12	1536	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	467					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.1401A>C	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419034	0.42918	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.3	1.74	0.24563	Rab-GAP/TBC domain (3);	0.104471	0.64402	D	0.000004	T	0.07324	0.0185	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.28902	-1.0029	10	0.34782	T	0.22	.	3.9238	0.09254	0.4322:0.2028:0.3649:0.0	.	467;389;408;467	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	D	467;408;389;420	ENSP00000336724:E467D;ENSP00000384036:E408D;ENSP00000347932:E389D;ENSP00000385634:E420D	ENSP00000336724:E467D	E	+	3	2	TBC1D22A	45886139	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.034000	0.30204	0.327000	0.23409	0.533000	0.62120	GAA		0.358	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3		NM_014346		12	43	0	0	0	0.105934	0	12	43		
SETD5	55209	broad.mit.edu	37	3	9517349	9517349	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:9517349C>A	ENST00000406341.1	+	22	4093	c.3903C>A	c.(3901-3903)agC>agA	p.S1301R	SETD5_ENST00000402198.1_Missense_Mutation_p.S1301R|SETD5_ENST00000402466.1_Missense_Mutation_p.S1203R|SETD5_ENST00000407969.1_Missense_Mutation_p.S1320R|SETD5_ENST00000302463.6_Missense_Mutation_p.S1203R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1301	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCTATTCCAGCCCCGCCCACC	0.547																																						uc003brt.2		NaN																	0				ovary(2)	2						c.(3901-3903)AGC>AGA		SET domain containing 5							54.0	52.0	53.0					3																	9517349		1891	4115	6006	SO:0001583	missense	55209							g.chr3:9517349C>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3903C>A	3.37:g.9517349C>A	ENSP00000383939:p.Ser1301Arg					SETD5_uc003bru.2_Missense_Mutation_p.S1203R|SETD5_uc003brv.2_Missense_Mutation_p.S1190R|SETD5_uc010hck.2_Missense_Mutation_p.S783R|SETD5_uc003brx.2_Missense_Mutation_p.S970R	p.S1301R	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	23	4338	+	Medulloblastoma(99;0.227)		1301			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.3903C>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223479	0.58668	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.94576	-3.12;-3.46;-3.12;-3.09;-3.46	5.49	5.49	0.81192	.	0.131508	0.56097	D	0.000040	D	0.94215	0.8143	N	0.24115	0.695	0.44834	D	0.997849	D;D;D	0.76494	0.999;0.999;0.995	D;D;P	0.80764	0.929;0.994;0.829	D	0.93842	0.7137	10	0.54805	T	0.06	-10.9658	12.1093	0.53830	0.0:0.9216:0.0:0.0784	.	970;1203;1301	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	R	1301;1203;1301;1320;1203	ENSP00000385852:S1301R;ENSP00000384429:S1203R;ENSP00000383939:S1301R;ENSP00000384114:S1320R;ENSP00000302028:S1203R	ENSP00000302028:S1203R	S	+	3	2	SETD5	9492349	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.841000	0.39240	2.735000	0.93741	0.591000	0.81541	AGC		0.547	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1		XM_371614		13	52	1	0	6.94344e-10	0.038395	8.11595e-10	13	52		
MLH1	4292	broad.mit.edu	37	3	37092133	37092133	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:37092133G>C	ENST00000231790.2	+	19	2476	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q	MLH1_ENST00000455445.2_Missense_Mutation_p.E513Q|MLH1_ENST00000539477.1_Missense_Mutation_p.E513Q|MLH1_ENST00000435176.1_Missense_Mutation_p.E656Q|MLH1_ENST00000536378.1_Intron|MLH1_ENST00000458205.2_Missense_Mutation_p.E513Q	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	754					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CAAAGTCTTTGAGAGGTGTTA	0.383		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.(2260-2262)GAG>CAG	MMR	MutL protein homolog 1							134.0	136.0	135.0					3																	37092133		2203	4300	6503	SO:0001583	missense	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37092133G>C	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.2260G>C	3.37:g.37092133G>C	ENSP00000231790:p.Glu754Gln					MLH1_uc011aye.1_Intron|MLH1_uc011ayb.1_Missense_Mutation_p.E513Q|MLH1_uc010hge.2_Missense_Mutation_p.E685Q|MLH1_uc003cgn.3_Missense_Mutation_p.E513Q|MLH1_uc011ayc.1_Missense_Mutation_p.E656Q|MLH1_uc011ayd.1_Missense_Mutation_p.E513Q|MLH1_uc003cgo.2_Missense_Mutation_p.E513Q|MLH1_uc010hgk.2_Missense_Mutation_p.E341Q|MLH1_uc010hgn.2_Missense_Mutation_p.L250F|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_3'UTR|MLH1_uc010hgp.2_Missense_Mutation_p.E137Q|MLH1_uc010hgq.2_RNA	p.E754Q	NM_000249	NP_000240	P40692	MLH1_HUMAN			19	2320	+			754					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.2260G>C	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.238171|5.238171	0.95240|0.95240	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000421440;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176|ENST00000456676	D;D;D;D;D|.	0.93426|.	-3.22;-3.22;-3.22;-3.22;-3.22|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87529|0.87529	0.6200|0.6200	H|H	0.94771|0.94771	3.58|3.58	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0|.	D|D	0.90775|0.90775	0.4675|0.4675	10|5	0.87932|.	D|.	0|.	-20.6994|-20.6994	19.2553|19.2553	0.93944|0.93944	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;754;513;754;754|.	E9PCU2;B2R6K0;B4DI13;Q53GX1;P40692|.	.;.;.;.;MLH1_HUMAN|.	Q|F	754;549;172;513;513;513;656|676	ENSP00000231790:E754Q;ENSP00000402667:E513Q;ENSP00000443665:E513Q;ENSP00000398272:E513Q;ENSP00000402564:E656Q|.	ENSP00000231790:E754Q|.	E|L	+|+	1|3	0|2	MLH1|MLH1	37067137|37067137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.516000|9.516000	0.98017|0.98017	2.557000|2.557000	0.86248|0.86248	0.650000|0.650000	0.86243|0.86243	GAG|TTG		0.383	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2		NM_000249		13	51	0	0	0	0.11911	0	13	51		
CELSR3	1951	broad.mit.edu	37	3	48697790	48697790	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:48697790C>T	ENST00000164024.4	-	1	2558	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	CELSR3_ENST00000544264.1_Missense_Mutation_p.E760K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	760	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTGGTACTCCTTCATTGTG	0.567																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(2278-2280)GAG>AAG		cadherin EGF LAG seven-pass G-type receptor 3							104.0	92.0	96.0					3																	48697790		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697790C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2278G>A	3.37:g.48697790C>T	ENSP00000164024:p.Glu760Lys					CELSR3_uc003cuf.1_Missense_Mutation_p.E830K	p.E760K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2559	-			760			Extracellular (Potential).|Cadherin 5.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2278G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846206	0.71603	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.01725	4.67;4.67	5.82	5.82	0.92795	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.08268	0.0206	L	0.56199	1.76	0.80722	D	1	P;D	0.76494	0.944;0.999	P;D	0.80764	0.694;0.994	T	0.51560	-0.8690	9	0.18276	T	0.48	.	20.0852	0.97797	0.0:1.0:0.0:0.0	.	760;830	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	K	760	ENSP00000164024:E760K;ENSP00000445694:E760K	ENSP00000164024:E760K	E	-	1	0	CELSR3	48672794	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.919000	0.63383	2.756000	0.94617	0.561000	0.74099	GAG		0.567	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		17	53	0	0	0	0.0333	0	17	53		
GRM2	2912	broad.mit.edu	37	3	51751819	51751819	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:51751819C>T	ENST00000395052.3	+	5	2765	c.2531C>T	c.(2530-2532)tCc>tTc	p.S844F	GRM2_ENST00000442933.2_Missense_Mutation_p.S566F|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	844					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGGCCAGCTCCAGCCTTGGC	0.627																																						uc010hlv.2		NaN																	0				lung(1)	1						c.(2530-2532)TCC>TTC		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						45.0	44.0	44.0					3																	51751819		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51751819C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2531C>T	3.37:g.51751819C>T	ENSP00000378492:p.Ser844Phe					GRM2_uc003dbo.3_Missense_Mutation_p.S226F|GRM2_uc010hlu.2_RNA	p.S844F	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	2770	+			844			Cytoplasmic (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.2531C>T	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782881	0.70222	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.90563	-2.56;-2.69	5.01	5.01	0.66863	.	0.188935	0.47093	D	0.000244	D	0.86426	0.5930	L	0.29908	0.895	0.39231	D	0.96367	B	0.11235	0.004	B	0.14023	0.01	T	0.83303	-0.0027	10	0.62326	D	0.03	.	17.9615	0.89086	0.0:1.0:0.0:0.0	.	844	Q14416	GRM2_HUMAN	F	844;566	ENSP00000378492:S844F;ENSP00000408906:S566F	ENSP00000378492:S844F	S	+	2	0	GRM2	51726859	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.417000	0.66423	2.721000	0.93114	0.609000	0.83330	TCC		0.627	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1				13	44	0	0	0	0.105934	0	13	44		
EPHA6	285220	broad.mit.edu	37	3	96706267	96706267	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:96706267C>T	ENST00000389672.5	+	3	582	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	EPHA6_ENST00000470610.2_Missense_Mutation_p.R182C|EPHA6_ENST00000542517.1_Missense_Mutation_p.R88C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	88	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.R88C(2)|p.R182C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAACTGGCTTCGTACAAACTG	0.428																																						uc010how.1		NaN																	3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(544-546)CGT>TGT		EPH receptor A6 isoform a							95.0	94.0	94.0					3																	96706267		1879	4103	5982	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706267C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.544C>T	3.37:g.96706267C>T	ENSP00000374323:p.Arg182Cys					EPHA6_uc003drp.1_Missense_Mutation_p.R182C	p.R182C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	587	+			87			Ephrin-binding.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.544C>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.699636|3.699636	0.68501|0.68501	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.04317|.	3.65;3.65;3.65|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.315711|.	0.27836|.	U|.	0.017648|.	D|D	0.86381|0.86381	0.5919|0.5919	M|M	0.90870|0.90870	3.155|3.155	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.88370|0.88370	0.2994|0.2994	10|5	0.87932|.	D|.	0|.	.|.	19.9351|19.9351	0.97137|0.97137	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	182;182|.	B3KS12;E7EU71|.	.;.|.	C|L	182;182;88|126	ENSP00000420598:R182C;ENSP00000374323:R182C;ENSP00000439758:R88C|.	ENSP00000374323:R182C|.	R|S	+|+	1|2	0|0	EPHA6|EPHA6	98188957|98188957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	3.734000|3.734000	0.55037|0.55037	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.428	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3		NM_001080448		24	150	0	0	0	0.076483	0	24	150		
FILIP1L	11259	broad.mit.edu	37	3	99567199	99567199	+	Silent	SNP	G	G	A	rs556347627		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:99567199G>A	ENST00000354552.3	-	5	3791	c.3321C>T	c.(3319-3321)gtC>gtT	p.V1107V	FILIP1L_ENST00000487087.1_Silent_p.V683V|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Silent_p.V867V|FILIP1L_ENST00000331335.5_Silent_p.V1107V|FILIP1L_ENST00000471562.1_Silent_p.V867V	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1107						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TACTGCTGGTGACTTTATTGG	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19496	0.0		0.0	False		,,,				2504	0.0					uc003dtm.2		NaN																	0				ovary(1)	1						c.(3319-3321)GTC>GTT		filamin A interacting protein 1-like isoform 1							370.0	357.0	361.0					3																	99567199		2013	4180	6193	SO:0001819	synonymous_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99567199G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.3321C>T	3.37:g.99567199G>A						C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.V1107V|FILIP1L_uc010hpf.2_Silent_p.V683V|FILIP1L_uc010hpg.2_Silent_p.V867V|FILIP1L_uc003dtn.2_Silent_p.V867V|FILIP1L_uc003dtp.1_Silent_p.V867V	p.V1107V	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			5	3784	-			1107					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	c.3321C>T	CCDS43117.1																																																																																				0.458	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1		NM_014890		37	153	0	0	0	0.069456	0	37	153		
ZBTB11	27107	broad.mit.edu	37	3	101378715	101378715	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:101378715C>T	ENST00000312938.4	-	6	2538	c.1958G>A	c.(1957-1959)tGt>tAt	p.C653Y	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACATATGGAACATATAAATTC	0.413																																						uc003dve.3		NaN																	0				skin(1)	1						c.(1957-1959)TGT>TAT		zinc finger protein ZNF-U69274							141.0	132.0	135.0					3																	101378715		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101378715C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1958G>A	3.37:g.101378715C>T	ENSP00000326200:p.Cys653Tyr						p.C653Y	NM_014415	NP_055230	O95625	ZBT11_HUMAN			6	2188	-			653			C2H2-type 3.		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.1958G>A	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541496	0.85917	.	.	ENSG00000066422	ENST00000312938	T	0.58358	0.34	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67856	-0.5562	10	0.87932	D	0	-9.4044	18.8216	0.92099	0.0:1.0:0.0:0.0	.	653	O95625	ZBT11_HUMAN	Y	653	ENSP00000326200:C653Y	ENSP00000326200:C653Y	C	-	2	0	ZBTB11	102861405	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.261000	0.78400	2.465000	0.83290	0.491000	0.48974	TGT		0.413	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2		NM_014415		21	86	0	0	0	0.049695	0	21	86		
GTPBP8	29083	broad.mit.edu	37	3	112709949	112709949	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:112709949G>A	ENST00000383678.2	+	1	185	c.103G>A	c.(103-105)Gag>Aag	p.E35K	GTPBP8_ENST00000473129.1_5'Flank|GTPBP8_ENST00000467752.1_5'Flank|RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000383677.3_Missense_Mutation_p.E35K	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	35					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AGCTTTTGCTGAGGTGCTGCG	0.632																																						uc003dzn.2		NaN																	0					0						c.(103-105)GAG>AAG		GTP-binding protein 8 isoform 1							28.0	34.0	32.0					3																	112709949		2203	4300	6503	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112709949G>A	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.103G>A	3.37:g.112709949G>A	ENSP00000373176:p.Glu35Lys					GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.E35K	p.E35K	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN			1	150	+			35					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.103G>A	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506804	0.85282	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.49720	0.86;0.77	6.17	4.38	0.52667	.	0.385904	0.28140	N	0.016448	T	0.48466	0.1501	M	0.70595	2.14	0.80722	D	1	B;B	0.24043	0.096;0.058	B;B	0.25614	0.062;0.028	T	0.53301	-0.8458	10	0.72032	D	0.01	-22.6306	12.3016	0.54878	0.1401:0.0:0.8599:0.0	.	35;35	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	K	35	ENSP00000373176:E35K;ENSP00000373175:E35K	ENSP00000295864:E35K	E	+	1	0	GTPBP8	114192639	0.993000	0.37304	0.884000	0.34674	0.597000	0.36814	2.317000	0.43770	1.631000	0.50456	0.655000	0.94253	GAG		0.632	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2		NM_014170		24	59	0	0	0	0.0918	0	24	59		
IQCB1	9657	broad.mit.edu	37	3	121491405	121491405	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:121491405C>G	ENST00000310864.6	-	14	1780	c.1566G>C	c.(1564-1566)atG>atC	p.M522I	IQCB1_ENST00000349820.6_Splice_Site_p.M389I	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	522					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AGCACATACTCATTAGCTGTT	0.443																																						uc010hre.1		NaN																	0					0						c.(1564-1566)ATG>ATC		IQ motif containing B1 isoform a							166.0	141.0	149.0					3																	121491405		2203	4300	6503	SO:0001630	splice_region_variant	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121491405C>G	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1567+1G>C	3.37:g.121491405C>G						IQCB1_uc003eek.2_Missense_Mutation_p.M389I|IQCB1_uc010hrf.1_RNA	p.M522I	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	14	1781	-			522					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1566G>C	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	9.215	1.032028	0.19590	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.78246	-1.16;-1.16	4.98	2.15	0.27550	.	0.340242	0.35407	N	0.003226	T	0.66665	0.2812	L	0.47716	1.5	0.40311	D	0.978719	B;B	0.22683	0.003;0.073	B;B	0.20955	0.003;0.032	T	0.57866	-0.7737	10	0.40728	T	0.16	-8.0094	6.4526	0.21912	0.0:0.6902:0.0:0.3098	.	522;389	Q15051;Q15051-2	IQCB1_HUMAN;.	I	522;389	ENSP00000311505:M522I;ENSP00000323756:M389I	ENSP00000311505:M522I	M	-	3	0	IQCB1	122974095	1.000000	0.71417	0.991000	0.47740	0.757000	0.42996	0.559000	0.23485	0.251000	0.21505	0.650000	0.86243	ATG		0.443	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1		NM_014642	Missense_Mutation	25	103	0	0	0	0.125774	0	25	103		
MUC13	56667	broad.mit.edu	37	3	124646788	124646788	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:124646788C>G	ENST00000311075.3	-	2	140	c.102G>C	c.(100-102)gcG>gcC	p.A34A	MUC13_ENST00000497378.1_5'UTR	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	34	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GACCACTAGTCGCAGTTTCTG	0.453																																						uc003ehq.1		NaN																	0					0						c.(100-102)GCG>GCC		mucin 13, epithelial transmembrane							164.0	143.0	150.0					3																	124646788		2203	4300	6503	SO:0001819	synonymous_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646788C>G	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.102G>C	3.37:g.124646788C>G							p.A34A	NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN			2	126	-			34			Thr-rich.|Extracellular (Potential).		Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37	c.102G>C																																																																																					0.453	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1		NM_033049		25	100	0	0	0	0.0918	0	25	100		
COL6A6	131873	broad.mit.edu	37	3	130289928	130289928	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:130289928G>A	ENST00000358511.6	+	6	2699	c.2668G>A	c.(2668-2670)Gag>Aag	p.E890K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E890K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	890	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTATACTGCTGAGGCACTGGG	0.537																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2668-2670)GAG>AAG		collagen type VI alpha 6 precursor							49.0	50.0	50.0					3																	130289928		1901	4119	6020	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130289928G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2668G>A	3.37:g.130289928G>A	ENSP00000351310:p.Glu890Lys						p.E890K	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2699	+			890			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2668G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.256003	0.01457	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.82893	-1.66;-1.66	4.87	2.62	0.31277	von Willebrand factor, type A (3);	0.105342	0.42172	D	0.000742	T	0.53400	0.1794	N	0.01640	-0.785	0.09310	N	0.999992	B	0.10296	0.003	B	0.08055	0.003	T	0.44982	-0.9292	10	0.06494	T	0.89	.	9.41	0.38485	0.2663:0.0:0.7337:0.0	.	890	A6NMZ7	CO6A6_HUMAN	K	890	ENSP00000351310:E890K;ENSP00000399236:E890K	ENSP00000351310:E890K	E	+	1	0	COL6A6	131772618	0.000000	0.05858	0.705000	0.30386	0.340000	0.28889	-0.195000	0.09546	1.179000	0.42884	0.561000	0.74099	GAG		0.537	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		4	22	0	0	0	0.009096	0	4	22		
CCDC39	339829	broad.mit.edu	37	3	180349347	180349347	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:180349347C>T	ENST00000442201.2	-	14	2027	c.1908G>A	c.(1906-1908)gaG>gaA	p.E636E	CCDC39_ENST00000273654.4_Silent_p.E720E	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	636					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTCAGCTTCTCAATTTTAC	0.338																																						uc010hxe.2		NaN																	0				ovary(4)	4						c.(1906-1908)GAG>GAA		coiled-coil domain containing 39							82.0	80.0	81.0					3																	180349347		1825	4093	5918	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180349347C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1908G>A	3.37:g.180349347C>T						CCDC39_uc003fkn.2_RNA	p.E636E	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		14	2023	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		636					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.1908G>A	CCDS46964.1																																																																																				0.338	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3		XM_291028		27	20	0	0	0	0.108266	0	27	20		
MCCC1	56922	broad.mit.edu	37	3	182788887	182788887	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182788887C>G	ENST00000265594.4	-	7	807	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	MCCC1_ENST00000492597.1_Missense_Mutation_p.E112Q|MCCC1_ENST00000539926.1_Missense_Mutation_p.E86Q	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	221	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AATTCTTGTTCTGATCTAACA	0.383																																						uc003fle.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(661-663)GAA>CAA		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						126.0	122.0	123.0					3																	182788887		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182788887C>G	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.661G>C	3.37:g.182788887C>G	ENSP00000265594:p.Glu221Gln					MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.E104Q|MCCC1_uc003flg.2_Missense_Mutation_p.E112Q|MCCC1_uc011bqp.1_Missense_Mutation_p.E174Q|MCCC1_uc011bqq.1_Missense_Mutation_p.E112Q	p.E221Q	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		7	798	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		221			Biotin carboxylation.|ATP-grasp.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.661G>C	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404775	0.42613	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3	5.6	5.6	0.85130	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.131458	0.64402	D	0.000001	D	0.97564	0.9202	M	0.69463	2.115	0.80722	D	1	D;P;D	0.57899	0.96;0.772;0.981	P;P;P	0.60068	0.832;0.588;0.868	D	0.96566	0.9419	10	0.33940	T	0.23	.	15.1745	0.72901	0.0:0.9305:0.0:0.0695	.	174;112;221	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	Q	221;112;71;86;174;174;112	ENSP00000265594:E221Q;ENSP00000419898:E112Q;ENSP00000441253:E86Q;ENSP00000420433:E174Q	ENSP00000265594:E221Q	E	-	1	0	MCCC1	184271581	1.000000	0.71417	0.046000	0.18839	0.043000	0.13939	4.557000	0.60782	2.788000	0.95919	0.650000	0.86243	GAA		0.383	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1		NM_020166		12	58	0	0	0	0.105934	0	12	58		
MCCC1	56922	broad.mit.edu	37	3	182789047	182789047	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182789047C>G	ENST00000265594.4	-	6	736	c.590G>C	c.(589-591)aGa>aCa	p.R197T	MCCC1_ENST00000492597.1_Missense_Mutation_p.R88T|MCCC1_ENST00000539926.1_Missense_Mutation_p.R62T	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	197	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ATAGCCAATTCTCCTGGCGTG	0.483																																						uc003fle.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(589-591)AGA>ACA		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						102.0	101.0	101.0					3																	182789047		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182789047C>G	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.590G>C	3.37:g.182789047C>G	ENSP00000265594:p.Arg197Thr					MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.R80T|MCCC1_uc003flg.2_Missense_Mutation_p.R88T|MCCC1_uc011bqp.1_Missense_Mutation_p.R150T|MCCC1_uc011bqq.1_Missense_Mutation_p.R88T	p.R197T	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		6	727	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		197			Biotin carboxylation.|ATP-grasp.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.590G>C	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864979	0.32977	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54	5.9	0.374	0.16183	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.417296	0.30159	N	0.010279	D	0.94732	0.8300	L	0.53780	1.695	0.09310	N	1	B;B;B	0.12630	0.001;0.006;0.003	B;B;B	0.13407	0.009;0.009;0.008	D	0.89158	0.3528	10	0.56958	D	0.05	.	7.1163	0.25418	0.0:0.5362:0.1145:0.3492	.	150;88;197	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	T	197;88;47;62;150;150;88	ENSP00000265594:R197T;ENSP00000419898:R88T;ENSP00000441253:R62T;ENSP00000420433:R150T	ENSP00000265594:R197T	R	-	2	0	MCCC1	184271741	0.224000	0.23674	0.044000	0.18714	0.793000	0.44817	0.205000	0.17356	0.105000	0.17753	0.650000	0.86243	AGA		0.483	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1		NM_020166		30	75	0	0	0	0.125774	0	30	75		
MCCC1	56922	broad.mit.edu	37	3	182790262	182790262	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:182790262C>G	ENST00000265594.4	-	5	529	c.383G>C	c.(382-384)gGa>gCa	p.G128A	MCCC1_ENST00000492597.1_Missense_Mutation_p.G19A|MCCC1_ENST00000539926.1_5'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	128	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AAAACCGCATCCTGGATGGAT	0.398																																						uc003fle.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(382-384)GGA>GCA		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						48.0	50.0	49.0					3																	182790262		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182790262C>G	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.383G>C	3.37:g.182790262C>G	ENSP00000265594:p.Gly128Ala					MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Intron|MCCC1_uc003flg.2_Missense_Mutation_p.G19A|MCCC1_uc011bqp.1_Missense_Mutation_p.G81A|MCCC1_uc011bqq.1_Missense_Mutation_p.G19A	p.G128A	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		5	520	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		128			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.383G>C	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795884	0.90453	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D	0.99741	-5.81;-6.6;-5.81	5.37	5.37	0.77165	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.99746	4.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96124	0.9087	10	0.87932	D	0	.	19.4857	0.95027	0.0:1.0:0.0:0.0	.	81;128	E9PG35;Q96RQ3	.;MCCA_HUMAN	A	128;19;81;81;19	ENSP00000265594:G128A;ENSP00000419898:G19A;ENSP00000420433:G81A	ENSP00000265594:G128A	G	-	2	0	MCCC1	184272956	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.256000	0.78350	2.677000	0.91161	0.561000	0.74099	GGA		0.398	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1		NM_020166		7	39	0	0	0	0.02938	0	7	39		
AHSG	197	broad.mit.edu	37	3	186337720	186337720	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:186337720C>G	ENST00000273784.5	+	6	829	c.753C>G	c.(751-753)ttC>ttG	p.F251L	AHSG_ENST00000411641.2_Missense_Mutation_p.F250L	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	250	Cystatin fetuin-A-type 2. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCATGGTGTTCCAAACACAGG	0.458																																						uc003fqk.3		NaN																	0					0						c.(748-750)TTC>TTG		alpha-2-HS-glycoprotein							85.0	86.0	85.0					3																	186337720		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186337720C>G	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.753C>G	3.37:g.186337720C>G	ENSP00000273784:p.Phe251Leu					AHSG_uc003fql.3_Missense_Mutation_p.F251L|AHSG_uc003fqm.3_Missense_Mutation_p.F249L|AHSG_uc010hyp.2_Missense_Mutation_p.F213L	p.F250L	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	6	831	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		250			Cystatin fetuin-A-type 2.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.750C>G		.	.	.	.	.	.	.	.	.	.	c	16.34	3.094778	0.56075	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.13901	2.56;2.55	5.45	4.57	0.56435	.	0.267525	0.33895	N	0.004447	T	0.29256	0.0728	M	0.77820	2.39	0.48632	D	0.99968	D;P;P	0.54964	0.969;0.899;0.897	P;P;P	0.56343	0.796;0.477;0.715	T	0.00761	-1.1577	10	0.72032	D	0.01	-20.4058	9.1939	0.37215	0.0:0.9058:0.0:0.0942	.	316;250;251	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	L	250;316;251	ENSP00000393887:F250L;ENSP00000273784:F251L	ENSP00000273784:F251L	F	+	3	2	AHSG	187820414	0.965000	0.33210	0.987000	0.45799	0.157000	0.22087	1.060000	0.30530	2.941000	0.99782	0.655000	0.94253	TTC		0.458	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1		NM_001622		16	49	0	0	0	0.038395	0	16	49		
TNK2	10188	broad.mit.edu	37	3	195594701	195594701	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr3:195594701G>C	ENST00000333602.6	-	12	3040	c.2423C>G	c.(2422-2424)tCa>tGa	p.S808*	TNK2_ENST00000392400.1_Nonsense_Mutation_p.S808*|TNK2_ENST00000381916.2_Nonsense_Mutation_p.S886*|TNK2_ENST00000428187.1_Nonsense_Mutation_p.S840*	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	808	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGGTGAGCTTGAGAGCCGGGG	0.711																																						uc003fvu.1		NaN																	0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(2422-2424)TCA>TGA		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						13.0	17.0	16.0					3																	195594701		2173	4256	6429	SO:0001587	stop_gained	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195594701G>C	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2423C>G	3.37:g.195594701G>C	ENSP00000329425:p.Ser808*					TNK2_uc003fvq.1_Nonsense_Mutation_p.S215*|TNK2_uc003fvr.1_Nonsense_Mutation_p.S333*|TNK2_uc003fvs.1_Nonsense_Mutation_p.S840*|TNK2_uc003fvt.1_Nonsense_Mutation_p.S886*|TNK2_uc010hzw.1_RNA	p.S808*	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	12	2966	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	808	Missing (in Ref. 4; AAH08884).		Pro-rich.|EBD domain (By similarity).		Q6ZMQ0|Q8N6U7|Q96H59	Nonsense_Mutation	SNP	ENST00000333602.6	37	c.2423C>G	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	41	8.615066	0.98886	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	.	.	.	4.23	4.23	0.50019	.	0.076324	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	15.3632	0.74499	0.0:0.0:1.0:0.0	.	.	.	.	X	808;886;375;840;808	.	ENSP00000329425:S808X	S	-	2	0	TNK2	197079098	1.000000	0.71417	0.993000	0.49108	0.857000	0.48899	4.628000	0.61282	2.180000	0.69256	0.558000	0.71614	TCA		0.711	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3		NM_005781		7	41	0	0	0	0.038147	0	7	41		
RGS12	6002	broad.mit.edu	37	4	3441290	3441290	+	Missense_Mutation	SNP	C	C	T	rs375231980		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:3441290C>T	ENST00000344733.5	+	18	5127	c.4223C>T	c.(4222-4224)gCt>gTt	p.A1408V	RGS12_ENST00000338806.4_Missense_Mutation_p.A760V|HGFAC_ENST00000511533.1_5'Flank|HGFAC_ENST00000382774.3_5'Flank	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1408					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGCACAGGCTGGCCCTGGG	0.662																																						uc003ggw.2		NaN																	0				skin(1)	1						c.(4222-4224)GCT>GTT		regulator of G-protein signalling 12 isoform 1		C	VAL/ALA,VAL/ALA	0,4402		0,0,2201	35.0	34.0	35.0		4223,2279	1.2	0.0	4		35	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	RGS12	NM_198229.2,NM_198227.1	64,64	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1408/1448,760/800	3441290	1,12991	2201	4295	6496	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3441290C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4223C>T	4.37:g.3441290C>T	ENSP00000339381:p.Ala1408Val					RGS12_uc003ggz.2_Missense_Mutation_p.A760V|RGS12_uc003gha.2_Missense_Mutation_p.A750V|RGS12_uc010icv.2_Missense_Mutation_p.A607V|HGFAC_uc003ghc.2_5'Flank|HGFAC_uc010icw.2_5'Flank	p.A1408V	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	18	5127	+			1408					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.4223C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	3.054	-0.194838	0.06259	0.0	1.16E-4	ENSG00000159788	ENST00000344733;ENST00000338806	T;T	0.34275	1.66;1.37	2.59	1.24	0.21308	.	2.890200	0.02424	N	0.082860	T	0.23249	0.0562	N	0.14661	0.345	0.09310	N	1	B;B;B	0.22683	0.073;0.045;0.043	B;B;B	0.22601	0.04;0.04;0.018	T	0.18116	-1.0347	10	0.40728	T	0.16	-0.0458	4.2025	0.10473	0.0:0.699:0.0:0.301	.	750;760;1408	O14924-2;O14924-3;O14924	.;.;RGS12_HUMAN	V	1408;760	ENSP00000339381:A1408V;ENSP00000342133:A760V	ENSP00000342133:A760V	A	+	2	0	RGS12	3411088	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.755000	0.04782	0.327000	0.23409	0.462000	0.41574	GCT		0.662	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1		NM_002926		6	24	0	0	0	0.021553	0	6	24		
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTGCTCCACTGCCTCCATCC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0					uc003gmb.3		NaN																	0				skin(1)	1						c.(373-375)ACT>ACC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						52.0	50.0	50.0					4																	9784028		2203	4300	6503	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784028T>C	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.375T>C	4.37:g.9784028T>C							p.T125T	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	771	+			125			Helical; Name=3; (Potential).		B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.375T>C	CCDS3405.1																																																																																				0.622	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1				3	27	0	0	0	0.115264	0	3	27		
C4orf19	55286	broad.mit.edu	37	4	37592524	37592524	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:37592524G>A	ENST00000284437.6	+	3	1025	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	C4orf19_ENST00000508175.1_Intron|RELL1_ENST00000314117.4_3'UTR|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.G283R	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	283										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CGATGGAGATGGGGATGGGGA	0.532																																						uc003gsw.3		NaN																	0					0						c.(847-849)GGG>AGG		hypothetical protein LOC55286							106.0	105.0	105.0					4																	37592524		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37592524G>A	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.847G>A	4.37:g.37592524G>A	ENSP00000284437:p.Gly283Arg					RELL1_uc003gsz.2_3'UTR|C4orf19_uc003gsy.3_Missense_Mutation_p.G283R	p.G283R	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN			4	1030	+			283					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.847G>A	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	G	2.588	-0.295888	0.05532	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.20881	2.04;2.04	4.88	-2.22	0.06952	.	1.519900	0.03707	N	0.249607	T	0.10594	0.0259	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30208	-0.9986	10	0.10377	T	0.69	-0.0247	8.8015	0.34912	0.3351:0.1332:0.5317:0.0	.	283	Q8IY42	CD019_HUMAN	R	283	ENSP00000371408:G283R;ENSP00000284437:G283R	ENSP00000284437:G283R	G	+	1	0	C4orf19	37268919	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.493000	0.00972	-0.447000	0.07138	-0.469000	0.05056	GGG		0.532	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1		NM_018302		68	92	0	0	0	0.139131	0	68	92		
EXOC1	55763	broad.mit.edu	37	4	56768625	56768625	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:56768625G>A	ENST00000381295.2	+	18	2801	c.2453G>A	c.(2452-2454)gGa>gAa	p.G818E	EXOC1_ENST00000346134.7_Missense_Mutation_p.G818E|EXOC1_ENST00000349598.6_Missense_Mutation_p.G803E	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	818					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GAGTACCCTGGAAAGGAAGTA	0.388																																						uc003hbe.1		NaN																	0				ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(2452-2454)GGA>GAA		exocyst complex component 1 isoform 1							103.0	106.0	105.0					4																	56768625		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56768625G>A	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2453G>A	4.37:g.56768625G>A	ENSP00000370695:p.Gly818Glu					EXOC1_uc003hbf.1_Missense_Mutation_p.G818E|EXOC1_uc003hbg.1_Missense_Mutation_p.G803E	p.G818E	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			18	2611	+	Glioma(25;0.08)|all_neural(26;0.101)		818					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.2453G>A	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346504	0.61073	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	L	0.52266	1.64	0.80722	D	1	P;P	0.52692	0.806;0.955	B;P	0.58520	0.229;0.84	T	0.66677	-0.5863	9	0.28530	T	0.3	.	19.6075	0.95586	0.0:0.0:1.0:0.0	.	803;818	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	E	818;818;803	.	ENSP00000326514:G818E	G	+	2	0	EXOC1	56463382	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	9.476000	0.97823	2.640000	0.89533	0.585000	0.79938	GGA		0.388	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1		NM_018261		10	46	0	0	0	0.058154	0	10	46		
POLR2B	5431	broad.mit.edu	37	4	57860643	57860643	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:57860643C>T	ENST00000381227.1	+	5	730	c.317C>T	c.(316-318)tCa>tTa	p.S106L	POLR2B_ENST00000431623.2_Missense_Mutation_p.S31L|POLR2B_ENST00000441246.2_Missense_Mutation_p.S99L|POLR2B_ENST00000314595.5_Missense_Mutation_p.S106L|snoU13_ENST00000459266.1_RNA			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	106					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GGTGCTCCTTCACCAATGATG	0.338																																						uc003hcl.1		NaN																	0				ovary(2)	2						c.(316-318)TCA>TTA		DNA directed RNA polymerase II polypeptide B							59.0	57.0	58.0					4																	57860643		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57860643C>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.317C>T	4.37:g.57860643C>T	ENSP00000370625:p.Ser106Leu					POLR2B_uc011cae.1_Missense_Mutation_p.S99L|POLR2B_uc011caf.1_Missense_Mutation_p.S31L	p.S106L	NM_000938	NP_000929	P30876	RPB2_HUMAN			4	360	+	Glioma(25;0.08)|all_neural(26;0.181)		106					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.317C>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902590	0.72754	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.48	5.48	0.80851	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.54431	0.1858	L	0.31476	0.935	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.18561	0.022;0.022	T	0.45396	-0.9264	10	0.35671	T	0.21	.	19.7113	0.96096	0.0:1.0:0.0:0.0	.	31;106	C9J4M6;P30876	.;RPB2_HUMAN	L	106;31;99;106	ENSP00000370625:S106L;ENSP00000391096:S31L;ENSP00000391452:S99L;ENSP00000312735:S106L	ENSP00000312735:S106L	S	+	2	0	POLR2B	57555400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.674000	0.83992	2.740000	0.93945	0.563000	0.77884	TCA		0.338	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1		NM_000938		8	24	0	0	0	0.038147	0	8	24		
LPHN3	23284	broad.mit.edu	37	4	62845433	62845433	+	Missense_Mutation	SNP	C	C	G	rs570445279		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:62845433C>G	ENST00000514591.1	+	17	3083	c.2754C>G	c.(2752-2754)atC>atG	p.I918M	LPHN3_ENST00000514157.1_Missense_Mutation_p.I918M|LPHN3_ENST00000506700.1_Missense_Mutation_p.I918M|LPHN3_ENST00000506746.1_Missense_Mutation_p.I986M|LPHN3_ENST00000514996.1_Missense_Mutation_p.I918M|LPHN3_ENST00000504896.1_Missense_Mutation_p.I918M|LPHN3_ENST00000508946.1_Missense_Mutation_p.I918M|LPHN3_ENST00000507625.1_Missense_Mutation_p.I986M|LPHN3_ENST00000506720.1_Missense_Mutation_p.I986M|LPHN3_ENST00000512091.2_Missense_Mutation_p.I918M|LPHN3_ENST00000511324.1_Missense_Mutation_p.I986M|LPHN3_ENST00000509896.1_Missense_Mutation_p.I986M|LPHN3_ENST00000545650.1_Missense_Mutation_p.I918M|LPHN3_ENST00000508693.1_Missense_Mutation_p.I986M|LPHN3_ENST00000507164.1_Missense_Mutation_p.I986M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	905					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCTCTGCATCAGTCTCTTTG	0.458																																						uc010ihh.2		NaN																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2752-2754)ATC>ATG		latrophilin 3 precursor							168.0	168.0	168.0					4																	62845433		2066	4230	6296	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62845433C>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2754C>G	4.37:g.62845433C>G	ENSP00000422533:p.Ile918Met					LPHN3_uc003hcq.3_Missense_Mutation_p.I918M|LPHN3_uc003hct.2_Missense_Mutation_p.I311M	p.I918M	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			15	2927	+			905			Helical; Name=2; (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2754C>G	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.94|16.94	3.261875|3.261875	0.59431|0.59431	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97|.	5.5|5.5	3.7|3.7	0.42460|0.42460	GPCR, family 2-like (1);|.	0.108809|.	0.64402|.	D|.	0.000009|.	T|T	0.74801|0.74801	0.3764|0.3764	M|M	0.88979|0.88979	2.995|2.995	0.45946|0.45946	D|D	0.998777|0.998777	D;D;D|.	0.71674|.	0.995;0.995;0.998|.	D;D;P|.	0.63283|.	0.913;0.913;0.858|.	T|T	0.74100|0.74100	-0.3774|-0.3774	10|5	0.87932|.	D|.	0|.	.|.	6.8754|6.8754	0.24143|0.24143	0.1395:0.7058:0.0:0.1547|0.1395:0.7058:0.0:0.1547	.|.	918;905;918|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	M|E	918;918;986;986;918;918;905;918;986;986;986;918;918;918;986;986;918|376	ENSP00000423388:I918M;ENSP00000422533:I918M;ENSP00000423787:I986M;ENSP00000425033:I986M;ENSP00000424120:I918M;ENSP00000439831:I918M;ENSP00000421476:I986M;ENSP00000424030:I986M;ENSP00000421372:I986M;ENSP00000425201:I918M;ENSP00000423434:I918M;ENSP00000421627:I918M;ENSP00000420931:I986M;ENSP00000425884:I986M;ENSP00000424258:I918M|.	ENSP00000280009:I918M|.	I|Q	+|+	3|1	3|0	LPHN3|LPHN3	62528028|62528028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.067000|2.067000	0.41461|0.41461	0.622000|0.622000	0.30249|0.30249	0.467000|0.467000	0.42956|0.42956	ATC|CAG		0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1				13	184	0	0	0	0.11911	0	13	184		
TET2	54790	broad.mit.edu	37	4	106156981	106156981	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:106156981G>A	ENST00000540549.1	+	3	2742	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	TET2_ENST00000413648.2_Missense_Mutation_p.E628K|TET2_ENST00000394764.1_Missense_Mutation_p.E628K|TET2_ENST00000305737.2_Missense_Mutation_p.E628K|TET2_ENST00000513237.1_Missense_Mutation_p.E649K|TET2_ENST00000545826.1_Missense_Mutation_p.E628K|TET2_ENST00000380013.4_Missense_Mutation_p.E628K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	628	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AACACAGCTGGAGCACAAGTC	0.478			"""Mis N, F"""		MDS																																	uc003hxk.2		NaN		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		0		p.L590_H650del(1)		haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(1882-1884)GAG>AAG		tet oncogene family member 2 isoform a							70.0	70.0	70.0					4																	106156981		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156981G>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1882G>A	4.37:g.106156981G>A	ENSP00000442788:p.Glu628Lys					TET2_uc011cez.1_Missense_Mutation_p.E649K|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.E628K|TET2_uc003hxi.1_Missense_Mutation_p.E628K	p.E628K	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2268	+		Myeloproliferative disorder(5;0.0393)	628			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1882G>A	CCDS47120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.40|10.40	1.341128|1.341128	0.24339|0.24339	.|.	.|.	ENSG00000168769|ENSG00000168769	ENST00000535110|ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.|T;T;T;T;T;T;T	.|0.36520	.|1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.59|5.59	4.73|4.73	0.59995|0.59995	.|.	.|0.569816	.|0.13210	.|U	.|0.405224	.|T	.|0.42832	.|0.1220	L|L	0.27053|0.27053	0.805|0.805	0.23991|0.23991	N|N	0.996248|0.996248	.|P;P;D	.|0.56746	.|0.877;0.877;0.977	.|B;B;P	.|0.55923	.|0.417;0.417;0.787	.|T	.|0.36359	.|-0.9751	.|10	.|0.72032	.|D	.|0.01	.|.	14.6799|14.6799	0.69009|0.69009	0.0:0.1448:0.8552:0.0|0.0:0.1448:0.8552:0.0	.|.	.|649;628;628	.|E7EQS8;Q6N021;Q6N021-2	.|.;TET2_HUMAN;.	.|K	-1|628;628;628;649;628;628;628	.|ENSP00000306705:E628K;ENSP00000442788:E628K;ENSP00000442867:E628K;ENSP00000425443:E649K;ENSP00000369351:E628K;ENSP00000378245:E628K;ENSP00000391448:E628K	.|ENSP00000265149:E628K	.|E	+|+	.|1	.|0	TET2|TET2	106376430|106376430	0.997000|0.997000	0.39634|0.39634	0.050000|0.050000	0.19076|0.19076	0.086000|0.086000	0.17979|0.17979	2.901000|2.901000	0.48695|0.48695	1.322000|1.322000	0.45245|0.45245	0.650000|0.650000	0.86243|0.86243	.|GAG		0.478	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628		5	29	0	0	0	0.014758	0	5	29		
KIAA1109	84162	broad.mit.edu	37	4	123277009	123277009	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:123277009G>C	ENST00000264501.4	+	83	14737	c.14364G>C	c.(14362-14364)aaG>aaC	p.K4788N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K4788N			Q2LD37	K1109_HUMAN	KIAA1109	4788					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTACTGTGAAGAATTCTAGTT	0.363																																						uc003ieh.2		NaN																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(14362-14364)AAG>AAC		fragile site-associated protein							129.0	127.0	128.0					4																	123277009		1879	4105	5984	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123277009G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14364G>C	4.37:g.123277009G>C	ENSP00000264501:p.Lys4788Asn					KIAA1109_uc003iem.2_Missense_Mutation_p.K1144N	p.K4788N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			81	14409	+			4788					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14364G>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.44|15.44	2.834053|2.834053	0.50951|0.50951	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755|ENST00000306802	T;T;T|.	0.48201|.	0.82;0.82;0.82|.	5.7|5.7	3.97|3.97	0.46021|0.46021	Fragile site-associated protein, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44329|0.44329	0.1288|0.1288	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.995;0.999|.	D;D|.	0.72338|.	0.919;0.977|.	T|T	0.19976|0.19976	-1.0289|-1.0289	10|5	0.08599|.	T|.	0.76|.	.|.	9.1107|9.1107	0.36725|0.36725	0.2778:0.0:0.7222:0.0|0.2778:0.0:0.7222:0.0	.|.	4787;4788|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	N|T	4788;4788;1457;389|1164	ENSP00000264501:K4788N;ENSP00000373390:K4788N;ENSP00000410874:K1457N|.	ENSP00000264501:K4788N|.	K|R	+|+	3|2	2|0	KIAA1109|KIAA1109	123496459|123496459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.004000|1.004000	0.29822|0.29822	0.763000|0.763000	0.33175|0.33175	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		19	29	0	0	0	0.043863	0	19	29		
RXFP1	59350	broad.mit.edu	37	4	159547979	159547979	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr4:159547979G>A	ENST00000307765.5	+	10	1014	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	RXFP1_ENST00000343542.5_Missense_Mutation_p.E255K|RXFP1_ENST00000448688.2_Intron|RXFP1_ENST00000460056.2_Missense_Mutation_p.E174K|RXFP1_ENST00000470033.1_Missense_Mutation_p.E222K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	255					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGGGACCTTGAAGGCAACCA	0.264																																						uc003ipz.2		NaN																	0					0						c.(763-765)GAA>AAA		relaxin/insulin-like family peptide receptor 1							105.0	93.0	97.0					4																	159547979		1790	4045	5835	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159547979G>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.763G>A	4.37:g.159547979G>A	ENSP00000303248:p.Glu255Lys					RXFP1_uc010iqj.1_Missense_Mutation_p.E84K|RXFP1_uc011cja.1_Intron|RXFP1_uc010iqo.2_Missense_Mutation_p.E255K|RXFP1_uc011cjb.1_Missense_Mutation_p.E201K|RXFP1_uc010iqk.2_Missense_Mutation_p.E123K|RXFP1_uc011cjc.1_Missense_Mutation_p.E174K|RXFP1_uc011cjd.1_Missense_Mutation_p.E174K|RXFP1_uc010iql.2_Intron|RXFP1_uc011cje.1_Missense_Mutation_p.E282K|RXFP1_uc010iqm.2_Missense_Mutation_p.E222K|RXFP1_uc011cjf.1_Missense_Mutation_p.E125K|RXFP1_uc010iqn.2_Missense_Mutation_p.E201K	p.E255K	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	10	845	+	all_hematologic(180;0.24)	Renal(120;0.0854)	255			Extracellular (Potential).|LRR 5.		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.763G>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325794	0.81580	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000343542;ENST00000470033;ENST00000440678	T;T;D;T	0.83755	3.62;0.47;-1.76;0.47	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.86343	0.5910	L	0.41079	1.255	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.992;0.979;0.996;0.998;0.998;1.0	D;D;P;D;D;D;D	0.79108	0.992;0.944;0.877;0.958;0.983;0.983;0.992	T	0.82406	-0.0473	10	0.18710	T	0.47	.	16.1396	0.81513	0.0:0.0:1.0:0.0	.	266;282;255;222;125;192;255	B3KV27;B4DGP2;Q9HBX9-4;Q9HBX9-2;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;RXFP1_HUMAN	K	174;255;255;222;125	ENSP00000423306:E174K;ENSP00000303248:E255K;ENSP00000345889:E255K;ENSP00000420712:E222K	ENSP00000303248:E255K	E	+	1	0	RXFP1	159767429	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.774000	0.68906	2.603000	0.88011	0.557000	0.71058	GAA		0.264	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1		NM_021634		10	14	0	0	0	0.069234	0	10	14		
ICE1	23379	broad.mit.edu	37	5	5489267	5489267	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:5489267C>T	ENST00000296564.7	+	19	6847	c.6625C>T	c.(6625-6627)Cca>Tca	p.P2209S		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2209					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCAGATATACCATGGGGTAT	0.383																																						uc003jdm.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(6625-6627)CCA>TCA		hypothetical protein LOC23379							42.0	41.0	42.0					5																	5489267		1821	4093	5914	SO:0001583	missense	23379							g.chr5:5489267C>T																												ENST00000296564.7:c.6625C>T	5.37:g.5489267C>T	ENSP00000296564:p.Pro2209Ser						p.P2209S	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			19	6847	+			2209					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.6625C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004025	0.74932	.	.	ENSG00000164151	ENST00000296564	T	0.69040	-0.37	5.54	5.54	0.83059	.	.	.	.	.	T	0.79724	0.4495	M	0.61703	1.905	0.48762	D	0.999707	D	0.89917	1.0	D	0.87578	0.998	T	0.80881	-0.1184	9	0.87932	D	0	-9.544	15.3319	0.74219	0.0:1.0:0.0:0.0	.	2209	Q9Y2F5	K0947_HUMAN	S	2209	ENSP00000296564:P2209S	ENSP00000296564:P2209S	P	+	1	0	KIAA0947	5542267	0.980000	0.34600	0.860000	0.33809	0.864000	0.49448	4.888000	0.63164	2.763000	0.94921	0.650000	0.86243	CCA		0.383	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1				7	42	0	0	0	0.038147	0	7	42		
ADAMTS12	81792	broad.mit.edu	37	5	33683979	33683979	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:33683979G>A	ENST00000504830.1	-	4	1151	c.816C>T	c.(814-816)ctC>ctT	p.L272L	ADAMTS12_ENST00000352040.3_Silent_p.L272L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	272	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCATGATGGTGAGGATGTAGG	0.468										HNSCC(64;0.19)																												uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(814-816)CTC>CTT		ADAM metallopeptidase with thrombospondin type 1							121.0	113.0	115.0					5																	33683979		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33683979G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.816C>T	5.37:g.33683979G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.L272L	p.L272L	NM_030955	NP_112217	P58397	ATS12_HUMAN			4	979	-			272			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.816C>T	CCDS34140.1																																																																																				0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		30	83	0	0	0	0.050027	0	30	83		
MCTP1	79772	broad.mit.edu	37	5	94248593	94248593	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:94248593C>T	ENST00000515393.1	-	9	1438	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	MCTP1_ENST00000312216.8_Missense_Mutation_p.R259K|MCTP1_ENST00000505078.1_5'UTR|MCTP1_ENST00000505208.1_Missense_Mutation_p.R259K|MCTP1_ENST00000429576.2_Missense_Mutation_p.R213K	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	480	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTTGAGGTCTCTCCCTTCAAT	0.468																																						uc003kkx.2		NaN																	0				ovary(2)	2						c.(1438-1440)AGA>AAA		multiple C2 domains, transmembrane 1 isoform L							198.0	178.0	185.0					5																	94248593		2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94248593C>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1439G>A	5.37:g.94248593C>T	ENSP00000424126:p.Arg480Lys					MCTP1_uc003kkv.2_Missense_Mutation_p.R259K|MCTP1_uc003kkw.2_Missense_Mutation_p.R213K|MCTP1_uc003kkz.2_Missense_Mutation_p.R141K|MCTP1_uc003kku.2_5'UTR	p.R480K	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	9	1439	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	480			C2 2.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.1439G>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	8.817	0.936721	0.18206	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568;ENST00000415885;ENST00000507214	T;T;T;T;T;T;T;T	0.74842	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.88	5.72	4.85	0.62838	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.279831	0.35262	N	0.003321	T	0.52289	0.1725	N	0.05414	-0.055	0.36165	D	0.848366	B;B;B	0.23442	0.085;0.012;0.007	B;B;B	0.30401	0.115;0.015;0.009	T	0.53844	-0.8381	10	0.08837	T	0.75	-9.1122	10.3737	0.44068	0.0:0.8546:0.0:0.1454	.	480;213;259	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	K	480;213;259;200;141;259;81;175;182	ENSP00000424126:R480K;ENSP00000391639:R213K;ENSP00000308957:R259K;ENSP00000423410:R200K;ENSP00000431075:R141K;ENSP00000426438:R259K;ENSP00000426294:R81K;ENSP00000424936:R182K	ENSP00000308957:R259K	R	-	2	0	MCTP1	94274349	1.000000	0.71417	0.985000	0.45067	0.794000	0.44872	2.416000	0.44644	2.689000	0.91719	0.650000	0.86243	AGA		0.468	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3		NM_024717		56	39	0	0	0	0.139131	0	56	39		
RGMB	285704	broad.mit.edu	37	5	98115321	98115321	+	Silent	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:98115321A>G	ENST00000513185.1	+	2	610	c.174A>G	c.(172-174)aaA>aaG	p.K58K	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Silent_p.K99K			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	58					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		GAATCCAGAAATGCACCACGG	0.493																																						uc003knc.2		NaN																	0					0						c.(295-297)AAA>AAG		RGM domain family, member B							191.0	192.0	192.0					5																	98115321		2025	4167	6192	SO:0001819	synonymous_variant	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98115321A>G	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.174A>G	5.37:g.98115321A>G						RGMB_uc003knb.2_Silent_p.K99K	p.K99K	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	4	699	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	58					D6R9A0|Q8NC92	Silent	SNP	ENST00000513185.1	37	c.297A>G																																																																																					0.493	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1		NM_173670		91	82	0	0	0	0.139131	0	91	82		
RAD50	10111	broad.mit.edu	37	5	131925368	131925368	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925368G>C	ENST00000265335.6	+	9	1678	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	RAD50_ENST00000378823.3_Missense_Mutation_p.E292Q			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	431					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGATAGATGAGATAAGAGA	0.284								Homologous recombination																														uc003kxi.2		NaN																	0				lung(2)|ovary(1)|skin(1)	4						c.(1291-1293)GAG>CAG	Homologous_recombination	RAD50 homolog isoform 1							54.0	56.0	56.0					5																	131925368		2203	4299	6502	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131925368G>C	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1291G>C	5.37:g.131925368G>C	ENSP00000265335:p.Glu431Gln					RAD50_uc003kxh.2_Missense_Mutation_p.E292Q	p.E431Q	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1678	+		all_cancers(142;0.0368)|Breast(839;0.198)	431			Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.1291G>C	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906635	0.72868	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.07444	3.4;3.63;3.19	5.51	5.51	0.81932	.	0.232310	0.50627	D	0.000112	T	0.10508	0.0257	L	0.51422	1.61	0.48452	D	0.999655	P	0.36647	0.563	B	0.35931	0.214	T	0.03231	-1.1058	10	0.45353	T	0.12	-11.8195	14.0889	0.64977	0.0747:0.0:0.9253:0.0	.	431	Q92878	RAD50_HUMAN	Q	292;431;431	ENSP00000368100:E292Q;ENSP00000265335:E431Q;ENSP00000400049:E431Q	ENSP00000265335:E431Q	E	+	1	0	RAD50	131953267	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.556000	0.82233	2.747000	0.94245	0.650000	0.86243	GAG		0.284	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5		NM_005732		7	20	0	0	0	0.038147	0	7	20		
RAD50	10111	broad.mit.edu	37	5	131925439	131925439	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925439G>A	ENST00000265335.6	+	9	1749	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	RAD50_ENST00000378823.3_Silent_p.Q315Q			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	454					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAAGAAGCAGAATGAGCTGA	0.353								Homologous recombination																														uc003kxi.2		NaN																	0				lung(2)|ovary(1)|skin(1)	4						c.(1360-1362)CAG>CAA	Homologous_recombination	RAD50 homolog isoform 1							89.0	91.0	90.0					5																	131925439		2203	4300	6503	SO:0001819	synonymous_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131925439G>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1362G>A	5.37:g.131925439G>A						RAD50_uc003kxh.2_Silent_p.Q315Q	p.Q454Q	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1749	+		all_cancers(142;0.0368)|Breast(839;0.198)	454			Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	c.1362G>A	CCDS34233.1																																																																																				0.353	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5		NM_005732		10	18	0	0	0	0.080935	0	10	18		
RAD50	10111	broad.mit.edu	37	5	131925448	131925448	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925448G>A	ENST00000265335.6	+	9	1758	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	RAD50_ENST00000378823.3_Silent_p.L318L			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	457					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAATGAGCTGAAAAATGTGA	0.343								Homologous recombination																														uc003kxi.2		NaN																	0				lung(2)|ovary(1)|skin(1)	4						c.(1369-1371)CTG>CTA	Homologous_recombination	RAD50 homolog isoform 1							88.0	90.0	89.0					5																	131925448		2203	4300	6503	SO:0001819	synonymous_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131925448G>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1371G>A	5.37:g.131925448G>A						RAD50_uc003kxh.2_Silent_p.L318L	p.L457L	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1758	+		all_cancers(142;0.0368)|Breast(839;0.198)	457			Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	c.1371G>A	CCDS34233.1																																																																																				0.343	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5		NM_005732		10	21	0	0	0	0.080935	0	10	21		
RAD50	10111	broad.mit.edu	37	5	131925479	131925479	+	Missense_Mutation	SNP	G	G	A	rs145031602		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:131925479G>A	ENST00000265335.6	+	9	1789	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	RAD50_ENST00000378823.3_Missense_Mutation_p.E329K			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	468					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGCAGTTGGAAGGATCTTC	0.318								Homologous recombination					G|||	1	0.000199681	0.0008	0.0	5008	,	,		16020	0.0		0.0	False		,,,				2504	0.0					uc003kxi.2		NaN																	0				lung(2)|ovary(1)|skin(1)	4						c.(1402-1404)GAA>AAA	Homologous_recombination	RAD50 homolog isoform 1		G	LYS/GLU	5,4401	9.9+/-24.2	0,5,2198	89.0	91.0	90.0		1402	5.5	1.0	5	dbSNP_134	90	0,8598		0,0,4299	yes	missense	RAD50	NM_005732.3	56	0,5,6497	AA,AG,GG		0.0,0.1135,0.0384	benign	468/1313	131925479	5,12999	2203	4299	6502	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131925479G>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1402G>A	5.37:g.131925479G>A	ENSP00000265335:p.Glu468Lys					RAD50_uc003kxh.2_Missense_Mutation_p.E329K	p.E468K	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1789	+		all_cancers(142;0.0368)|Breast(839;0.198)	468			Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.1402G>A	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859149	0.71834	0.001135	0.0	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.07216	3.42;3.66;3.21	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	M	0.67953	2.075	0.80722	D	1	P	0.46656	0.882	P	0.45310	0.476	T	0.01436	-1.1355	10	0.28530	T	0.3	-23.3209	18.7706	0.91890	0.0:0.0:1.0:0.0	.	468	Q92878	RAD50_HUMAN	K	329;468;468	ENSP00000368100:E329K;ENSP00000265335:E468K;ENSP00000400049:E468K	ENSP00000265335:E468K	E	+	1	0	RAD50	131953378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.408000	0.97327	2.747000	0.94245	0.650000	0.86243	GAA		0.318	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5		NM_005732		11	18	0	0	0	0.132662	0	11	18		
SIL1	64374	broad.mit.edu	37	5	138386694	138386694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:138386694G>A	ENST00000394817.2	-	4	425	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Nonsense_Mutation_p.Q96*|SIL1_ENST00000509534.1_Nonsense_Mutation_p.Q103*	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	96	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCCCAGTCTGAAGATTCAGC	0.493									Marinesco-Sjgren syndrome																													uc003ldm.2		NaN																	0					0						c.(286-288)CAG>TAG		SIL1 protein precursor							166.0	151.0	156.0					5																	138386694		2203	4300	6503	SO:0001587	stop_gained	64374	Marinesco-Sj_gren_syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138386694G>A	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.286C>T	5.37:g.138386694G>A	ENSP00000378294:p.Gln96*					SIL1_uc003ldn.2_Nonsense_Mutation_p.Q95*|SIL1_uc003ldo.2_Nonsense_Mutation_p.Q96*|SIL1_uc003ldp.2_Nonsense_Mutation_p.Q96*	p.Q96*	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	303	-			96			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Nonsense_Mutation	SNP	ENST00000394817.2	37	c.286C>T	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702049	0.48307	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000508639;ENST00000513453;ENST00000507002;ENST00000505830	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.4612	14.377	0.66884	0.0:0.0:1.0:0.0	.	.	.	.	X	96;96;75;103;96;96;106;106	.	ENSP00000265195:Q96X	Q	-	1	0	SIL1	138414593	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.363000	0.66104	2.773000	0.95371	0.655000	0.94253	CAG		0.493	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1		NM_022464		47	82	0	0	0	0.139131	0	47	82		
PCDHGA1	56114	broad.mit.edu	37	5	140711698	140711698	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140711698G>A	ENST00000517417.1	+	1	1447	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E483K|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	483	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGCAATGAGAATGCACA	0.537																																						uc003lji.1		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1447-1449)GAG>AAG		protocadherin gamma subfamily A, 1 isoform 1							113.0	121.0	119.0					5																	140711698		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711698G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1447G>A	5.37:g.140711698G>A	ENSP00000431083:p.Glu483Lys					PCDHGA1_uc011dan.1_Missense_Mutation_p.E483K	p.E483K	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1447	+			483			Extracellular (Potential).|Cadherin 5.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1447G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	6.770	0.511030	0.12883	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.51574	4.68;0.7	3.82	2.91	0.33838	Cadherin (4);Cadherin-like (1);	0.321295	0.22123	N	0.064320	T	0.43523	0.1251	L	0.52266	1.64	0.09310	N	0.999999	B;B	0.14805	0.011;0.009	B;B	0.24701	0.049;0.055	T	0.42430	-0.9452	10	0.46703	T	0.11	.	12.8583	0.57899	0.0:0.3118:0.6881:0.0	.	483;483	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	K	483	ENSP00000431083:E483K;ENSP00000367345:E483K	ENSP00000367345:E483K	E	+	1	0	PCDHGA1	140691882	0.000000	0.05858	0.121000	0.21740	0.494000	0.33585	0.184000	0.16939	0.905000	0.36596	0.557000	0.71058	GAG		0.537	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1		NM_018912		39	97	0	0	0	0.092188	0	39	97		
PCDHGA5	56110	broad.mit.edu	37	5	140745310	140745310	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140745310C>G	ENST00000518069.1	+	1	1413	c.1413C>G	c.(1411-1413)atC>atG	p.I471M	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	471	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTCTATCTTCTCTGTGA	0.542																																						uc003lju.1		NaN																	0				ovary(4)	4						c.(1411-1413)ATC>ATG		protocadherin gamma subfamily A, 5 isoform 1							117.0	126.0	123.0					5																	140745310		1961	4172	6133	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745310C>G	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1413C>G	5.37:g.140745310C>G	ENSP00000429834:p.Ile471Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.I471M	p.I471M	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1413	+			471			Extracellular (Potential).|Cadherin 5.		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.1413C>G	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	10.62	1.401183	0.25291	.	.	ENSG00000253485	ENST00000518069	T	0.65178	-0.14	5.18	-0.353	0.12594	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.78842	0.4347	M	0.93638	3.44	0.09310	N	1	D;D	0.76494	0.995;0.999	D;D	0.72338	0.944;0.977	T	0.64859	-0.6308	9	0.87932	D	0	.	2.9422	0.05834	0.1078:0.4114:0.1063:0.3745	.	471;471	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	M	471	ENSP00000429834:I471M	ENSP00000429834:I471M	I	+	3	3	PCDHGA5	140725494	0.000000	0.05858	0.873000	0.34254	0.665000	0.39181	-2.546000	0.00932	-0.045000	0.13468	0.563000	0.77884	ATC		0.542	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1		NM_018918		33	120	0	0	0	0.054565	0	33	120		
PCDHGA8	9708	broad.mit.edu	37	5	140772943	140772943	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr5:140772943G>C	ENST00000398604.2	+	1	563	c.563G>C	c.(562-564)gGa>gCa	p.G188A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	188	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACAATGGAGCCATAAAC	0.632																																						uc003lkd.1		NaN																	0					0						c.(562-564)GGA>GCA		protocadherin gamma subfamily A, 8 isoform 1							50.0	56.0	54.0					5																	140772943		2165	4288	6453	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140772943G>C	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.563G>C	5.37:g.140772943G>C	ENSP00000381605:p.Gly188Ala					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.G188A	p.G188A	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1461	+			188			Extracellular (Potential).|Cadherin 2.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.563G>C	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939157	0.52972	.	.	ENSG00000253767	ENST00000398604	T	0.21031	2.03	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.000000	0.31167	U	0.008134	T	0.57873	0.2083	M	0.94063	3.49	0.48830	D	0.999711	D;D	0.67145	0.996;0.989	D;D	0.65773	0.938;0.923	T	0.70288	-0.4913	10	0.87932	D	0	.	18.8047	0.92032	0.0:0.0:1.0:0.0	.	188;188	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	A	188	ENSP00000381605:G188A	ENSP00000381605:G188A	G	+	2	0	PCDHGA8	140753127	1.000000	0.71417	0.668000	0.29813	0.077000	0.17291	5.168000	0.64978	2.552000	0.86080	0.655000	0.94253	GGA		0.632	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1		NM_032088		12	32	0	0	0	0.080935	0	12	32		
ECI2	10455	broad.mit.edu	37	6	4131046	4131046	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:4131046G>A	ENST00000380118.3	-	3	303	c.267C>T	c.(265-267)aaC>aaT	p.N89N	ECI2_ENST00000380125.2_Silent_p.N59N|ECI2_ENST00000465828.1_Silent_p.N59N|C6orf201_ENST00000380175.4_3'UTR|ECI2_ENST00000361538.2_Silent_p.N59N|ECI2_ENST00000413766.2_5'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	89	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ATTTGGCCTTGTTGATCAAGT	0.448																																						uc003mwf.2		NaN																	0					0						c.(265-267)AAC>AAT		peroxisomal D3,D2-enoyl-CoA isomerase isoform 2							165.0	148.0	154.0					6																	4131046		2203	4300	6503	SO:0001819	synonymous_variant	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4131046G>A	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.267C>T	6.37:g.4131046G>A						PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Silent_p.N59N|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA	p.N89N	NM_206836	NP_996667	O75521	ECI2_HUMAN			3	304	-	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	89			ACB.		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Silent	SNP	ENST00000380118.3	37	c.267C>T	CCDS43420.2																																																																																				0.448	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4		NM_006117		39	139	0	0	0	0.117977	0	39	139		
DSP	1832	broad.mit.edu	37	6	7583321	7583321	+	Silent	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:7583321C>A	ENST00000379802.3	+	24	6167	c.5826C>A	c.(5824-5826)ctC>ctA	p.L1942L	DSP_ENST00000418664.2_Silent_p.L1343L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1942	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGATAAACTCAGACAGCGCC	0.522																																						uc003mxp.1		NaN																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(5824-5826)CTC>CTA		desmoplakin isoform I							74.0	75.0	75.0					6																	7583321		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583321C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5826C>A	6.37:g.7583321C>A						DSP_uc003mxq.1_Silent_p.L1343L	p.L1942L	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6105	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1942			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.5826C>A	CCDS4501.1																																																																																				0.522	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		26	52	1	0	8.24728e-16	0.099896	9.79503e-16	26	52		
HIVEP1	3096	broad.mit.edu	37	6	12123020	12123020	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:12123020G>A	ENST00000379388.2	+	4	3324	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	998					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGAGAACCTGAGCACAGCCC	0.463																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2992-2994)GAG>AAG		human immunodeficiency virus type I enhancer							100.0	104.0	103.0					6																	12123020		1885	4120	6005	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123020G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2992G>A	6.37:g.12123020G>A	ENSP00000368698:p.Glu998Lys					HIVEP1_uc011diq.1_RNA	p.E998K	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	3171	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	998					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2992G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336796	0.60963	.	.	ENSG00000095951	ENST00000379388	T	0.14266	2.52	5.74	5.74	0.90152	.	0.000000	0.36703	N	0.002451	T	0.36580	0.0972	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.16837	-1.0389	9	.	.	.	-29.741	19.9279	0.97110	0.0:0.0:1.0:0.0	.	998	P15822	ZEP1_HUMAN	K	998	ENSP00000368698:E998K	.	E	+	1	0	HIVEP1	12231006	1.000000	0.71417	0.457000	0.27056	0.178000	0.23041	9.827000	0.99397	2.715000	0.92844	0.655000	0.94253	GAG		0.463	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		7	209	0	0	0	0.038147	0	7	209		
NOL7	51406	broad.mit.edu	37	6	13620657	13620657	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:13620657C>T	ENST00000451315.2	+	7	672	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F	NOL7_ENST00000474485.1_3'UTR|RANBP9_ENST00000469916.1_5'Flank|AL441883.1_ENST00000600057.1_Missense_Mutation_p.R66K	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	214						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			GTTCCTGTCTCTTGCCAACAA	0.333																																						uc003naz.2		NaN																	0					0						c.(640-642)CTT>TTT		nucleolar protein 7, 27kDa							99.0	102.0	101.0					6																	13620657		2203	4300	6503	SO:0001583	missense	51406					mitochondrion|nucleolus		g.chr6:13620657C>T	AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.640C>T	6.37:g.13620657C>T	ENSP00000405674:p.Leu214Phe						p.L214F	NM_016167	NP_057251	Q9UMY1	NOL7_HUMAN	Epithelial(50;0.176)		7	672	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	214					Q5T297|Q9Y3U7	Missense_Mutation	SNP	ENST00000451315.2	37	c.640C>T	CCDS4528.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506926	0.64410	.	.	ENSG00000225921	ENST00000451315	.	.	.	5.98	5.09	0.68999	.	0.070370	0.64402	D	0.000020	T	0.54481	0.1861	L	0.32530	0.975	0.44073	D	0.996829	D	0.89917	1.0	D	0.75484	0.986	T	0.62854	-0.6766	9	0.72032	D	0.01	-14.0073	10.4988	0.44794	0.236:0.5423:0.2217:0.0	.	214	Q9UMY1	NOL7_HUMAN	F	214	.	ENSP00000405674:L214F	L	+	1	0	NOL7	13728636	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	1.453000	0.35167	1.489000	0.48450	0.655000	0.94253	CTT		0.333	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039904.1		NM_016167		15	53	0	0	0	0.038395	0	15	53		
CAP2	10486	broad.mit.edu	37	6	17426839	17426839	+	Missense_Mutation	SNP	A	A	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:17426839A>G	ENST00000229922.2	+	3	672	c.140A>G	c.(139-141)gAa>gGa	p.E47G	CAP2_ENST00000465994.1_Missense_Mutation_p.E47G|CAP2_ENST00000493172.1_Missense_Mutation_p.E47G|CAP2_ENST00000378990.2_Missense_Mutation_p.E47G|CAP2_ENST00000489374.1_Missense_Mutation_p.E47G	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	47					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCCTCCGTGGAAGCCTTTGAC	0.537																																						uc003ncb.2		NaN																	0				ovary(1)	1						c.(139-141)GAA>GGA		adenylyl cyclase-associated protein 2							113.0	101.0	105.0					6																	17426839		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17426839A>G	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.140A>G	6.37:g.17426839A>G	ENSP00000229922:p.Glu47Gly					CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.E47G|CAP2_uc011djb.1_Missense_Mutation_p.E47G|CAP2_uc011djc.1_Missense_Mutation_p.E47G|CAP2_uc011djd.1_Missense_Mutation_p.E47G	p.E47G	NM_006366	NP_006357	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		3	383	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	47					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.140A>G	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916240	0.73098	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67	5.57	5.57	0.84162	Adenylate cyclase-associated CAP, N-terminal (2);	0.226285	0.44688	D	0.000438	T	0.29783	0.0744	M	0.83012	2.62	0.35871	D	0.828209	D;D;D;B;D	0.89917	0.999;0.997;0.999;0.432;1.0	D;D;D;B;D	0.81914	0.995;0.992;0.995;0.259;0.991	T	0.22661	-1.0210	10	0.51188	T	0.08	-24.7764	13.2392	0.59987	1.0:0.0:0.0:0.0	.	47;47;47;47;47	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	G	47	ENSP00000229922:E47G;ENSP00000417705:E47G;ENSP00000368275:E47G;ENSP00000417208:E47G;ENSP00000418604:E47G	ENSP00000229922:E47G	E	+	2	0	CAP2	17534818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.263000	0.72521	2.122000	0.65172	0.482000	0.46254	GAA		0.537	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2				30	56	0	0	0	0.059317	0	30	56		
TRIM38	10475	broad.mit.edu	37	6	25972225	25972225	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:25972225G>A	ENST00000357085.3	+	5	1112	c.636G>A	c.(634-636)ctG>ctA	p.L212L	TRIM38_ENST00000349458.3_Silent_p.L212L	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	212					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TGAGTAGACTGAGGGACTATG	0.488																																						uc003nfm.2		NaN																	0					0						c.(634-636)CTG>CTA		tripartite motif-containing 38							75.0	79.0	77.0					6																	25972225		2203	4300	6503	SO:0001819	synonymous_variant	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25972225G>A	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.636G>A	6.37:g.25972225G>A						TRIM38_uc003nfn.2_Silent_p.L194L|TRIM38_uc010jqd.2_5'Flank	p.L212L	NM_006355	NP_006346	O00635	TRI38_HUMAN			5	1071	+			212					B2R862	Silent	SNP	ENST00000357085.3	37	c.636G>A	CCDS4568.1																																																																																				0.488	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2				32	58	0	0	0	0.144211	0	32	58		
HIST1H3B	8358	broad.mit.edu	37	6	26031885	26031885	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:26031885C>G	ENST00000244661.2	-	1	403	c.404G>C	c.(403-405)aGa>aCa	p.R135T		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	135				Missing (in Ref. 2; AAA52651). {ECO:0000305}.	blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CATTTACGCTCTTTCTCCGCG	0.453																																						uc003nfs.1		NaN																	0				ovary(2)	2						c.(403-405)AGA>ACA		histone cluster 1, H3b							56.0	59.0	58.0					6																	26031885		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031885C>G	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.404G>C	6.37:g.26031885C>G	ENSP00000244661:p.Arg135Thr						p.R135T	NM_003537	NP_003528	P68431	H31_HUMAN			1	404	-			135	Missing (in Ref. 2; AAA52651).				A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.404G>C	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	14.51	2.558123	0.45590	.	.	ENSG00000124693	ENST00000244661	T	0.50001	0.76	5.17	5.17	0.71159	.	.	.	.	.	T	0.59824	0.2222	.	.	.	0.36990	D	0.894722	.	.	.	.	.	.	T	0.66168	-0.5991	6	0.87932	D	0	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	.	.	.	T	135	ENSP00000244661:R135T	ENSP00000244661:R135T	R	-	2	0	HIST1H3B	26139864	0.998000	0.40836	0.999000	0.59377	0.033000	0.12548	7.492000	0.81482	2.545000	0.85829	0.561000	0.74099	AGA		0.453	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1		NM_003537		20	71	0	0	0	0.049695	0	20	71		
HIST1H2BC	8347	broad.mit.edu	37	6	26123851	26123851	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:26123851C>T	ENST00000314332.5	-	1	287	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H2BC_ENST00000396984.1_Silent_p.E94E|HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2AC_ENST00000602637.1_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	94					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E94D(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CCGTCTGGATCTCCCTGGAGG	0.597																																						uc003ngk.3		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(280-282)GAG>GAA		histone cluster 1, H2bc							78.0	83.0	81.0					6																	26123851		2203	4300	6503	SO:0001819	synonymous_variant	8347				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26123851C>T	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.282G>A	6.37:g.26123851C>T						HIST1H2BC_uc003ngl.2_Silent_p.E94E|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	p.E94E	NM_003526	NP_003517	P62807	H2B1C_HUMAN			1	304	-			94					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000314332.5	37	c.282G>A	CCDS4584.1																																																																																				0.597	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1		NM_003526		24	153	0	0	0	0.083992	0	24	153		
GABBR1	2550	broad.mit.edu	37	6	29576387	29576387	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:29576387G>A	ENST00000377034.4	-	16	2318	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	GABBR1_ENST00000355973.3_Silent_p.F544F|GABBR1_ENST00000377016.4_Silent_p.F599F|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Silent_p.F544F	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	661					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.F661F(2)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CCTGGCAGACGAAAGGAAACT	0.547																																						uc003nmt.3		NaN																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(5)|liver(1)|skin(1)	7						c.(1981-1983)TTC>TTT		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						95.0	81.0	86.0					6																	29576387		1511	2708	4219	SO:0001819	synonymous_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29576387G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1983C>T	6.37:g.29576387G>A						GABBR1_uc003nmp.3_Silent_p.F544F|GABBR1_uc003nms.3_Silent_p.F544F|GABBR1_uc003nmu.3_Silent_p.F599F|GABBR1_uc011dlr.1_Silent_p.F484F|GABBR1_uc011dls.1_3'UTR	p.F661F	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			16	2319	-			661			Extracellular (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.1983C>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	G	9.555	1.116862	0.20795	.	.	ENSG00000204681	ENST00000485026	.	.	.	4.49	-1.51	0.08664	.	.	.	.	.	T	0.40694	0.1127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41662	-0.9496	4	.	.	.	-17.5261	9.9804	0.41811	0.783:0.0:0.217:0.0	.	.	.	.	C	42	.	.	R	-	1	0	GABBR1	29684366	0.994000	0.37717	0.913000	0.36048	0.922000	0.55478	0.201000	0.17276	-0.450000	0.07107	0.557000	0.71058	CGT		0.547	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3				15	73	0	0	0	0.132662	0	15	73		
LSM2	57819	broad.mit.edu	37	6	31766264	31766264	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31766264G>A	ENST00000375661.5	-	3	318	c.92C>T	c.(91-93)tCt>tTt	p.S31F	VARS_ENST00000375663.3_5'Flank|VARS_ENST00000444930.2_5'Flank|LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	31					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|U6 snRNA binding (GO:0017070)			large_intestine(1)|lung(1)	2						CTGATCCACAGAATGGAGGGT	0.473																																						uc003nxg.2		NaN																	0					0						c.(91-93)TCT>TTT		LSM2 homolog, U6 small nuclear RNA associated							69.0	67.0	68.0					6																	31766264		1510	2708	4218	SO:0001583	missense	57819				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding	g.chr6:31766264G>A	AF182288	CCDS4722.1	6p21.3	2010-02-17	2003-02-17	2003-02-21	ENSG00000204392	ENSG00000204392			13940	protein-coding gene	gene with protein product		607282	"""chromosome 6 open reading frame 28"""	C6orf28		10523320, 8428774	Standard	NM_021177		Approved	G7b, YBL026W	uc003nxg.3	Q9Y333	OTTHUMG00000031121	ENST00000375661.5:c.92C>T	6.37:g.31766264G>A	ENSP00000364813:p.Ser31Phe					VARS_uc003nxe.2_5'Flank|VARS_uc011doi.1_5'Flank	p.S31F	NM_021177	NP_067000	Q9Y333	LSM2_HUMAN			3	301	-			31					Q6FGG1	Missense_Mutation	SNP	ENST00000375661.5	37	c.92C>T	CCDS4722.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630274	0.87660	.	.	ENSG00000204392	ENST00000375661	T	0.50548	0.74	5.2	5.2	0.72013	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.68217	-0.5467	9	0.66056	D	0.02	-21.3388	16.218	0.82241	0.0:0.0:1.0:0.0	.	31	Q9Y333	LSM2_HUMAN	F	31	ENSP00000364813:S31F	ENSP00000364813:S31F	S	-	2	0	LSM2	31874243	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.566000	0.90734	2.434000	0.82447	0.484000	0.47621	TCT		0.473	LSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076205.2		NM_021177		28	55	0	0	0	0.125774	0	28	55		
EHMT2	10919	broad.mit.edu	37	6	31847893	31847893	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31847893C>G	ENST00000375537.4	-	28	3607	c.3601G>C	c.(3601-3603)Gag>Cag	p.E1201Q	EHMT2_ENST00000395728.3_Missense_Mutation_p.E1258Q|EHMT2_ENST00000375530.4_Missense_Mutation_p.E1167Q|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000544672.1_5'Flank|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.E1224Q|SLC44A4_ENST00000375562.4_5'Flank|SLC44A4_ENST00000229729.6_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1201					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGCCGAGCTCGGGCAGCAGC	0.652																																						uc003nxz.1		NaN																	0				ovary(1)	1						c.(3601-3603)GAG>CAG		euchromatic histone-lysine N-methyltransferase 2							46.0	48.0	47.0					6																	31847893		1510	2708	4218	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31847893C>G	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3601G>C	6.37:g.31847893C>G	ENSP00000364687:p.Glu1201Gln					EHMT2_uc003nxv.1_Missense_Mutation_p.E240Q|EHMT2_uc003nxw.1_Missense_Mutation_p.E240Q|EHMT2_uc003nxx.1_Missense_Mutation_p.E399Q|EHMT2_uc003nxy.1_Missense_Mutation_p.E999Q|EHMT2_uc011don.1_Missense_Mutation_p.E1224Q|EHMT2_uc003nya.1_Missense_Mutation_p.E1167Q|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dol.1_5'Flank|SLC44A4_uc011dom.1_5'Flank	p.E1201Q	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			28	3611	-			1201					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.3601G>C	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.956269	0.53293	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70282	-0.47;-0.43;-0.37;-0.47	4.99	4.99	0.66335	.	0.280305	0.33272	N	0.005088	T	0.48390	0.1497	N	0.08118	0	0.42822	D	0.993997	P;P;P;P	0.50369	0.934;0.881;0.811;0.889	P;B;B;B	0.47603	0.551;0.326;0.174;0.301	T	0.57347	-0.7827	10	0.39692	T	0.17	.	17.4317	0.87541	0.0:1.0:0.0:0.0	.	1224;1167;1201;1022	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	Q	1258;1224;1167;1201;1022	ENSP00000379078:E1258Q;ENSP00000364678:E1224Q;ENSP00000364680:E1167Q;ENSP00000364687:E1201Q	ENSP00000364678:E1224Q	E	-	1	0	EHMT2	31955872	0.993000	0.37304	0.896000	0.35187	0.469000	0.32828	3.109000	0.50345	2.478000	0.83669	0.561000	0.74099	GAG		0.652	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5		NM_006709		5	45	0	0	0	0.014758	0	5	45		
ZBTB12	221527	broad.mit.edu	37	6	31867740	31867740	+	Missense_Mutation	SNP	T	T	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:31867740T>A	ENST00000375527.2	-	2	1518	c.1343A>T	c.(1342-1344)gAg>gTg	p.E448V	EHMT2_ENST00000395728.3_5'Flank|EHMT2_ENST00000375537.4_5'Flank|EHMT2_ENST00000375528.4_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375530.4_5'Flank|C2_ENST00000452323.2_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CACACTGGCCTCCAGCACGTT	0.652																																						uc003nyd.1		NaN																	0					0						c.(1342-1344)GAG>GTG		zinc finger and BTB domain containing 12							31.0	28.0	29.0					6																	31867740		2194	4288	6482	SO:0001583	missense	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31867740T>A	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.1343A>T	6.37:g.31867740T>A	ENSP00000364677:p.Glu448Val					EHMT2_uc011don.1_5'Flank|EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	p.E448V	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN			2	1519	-			448					B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	c.1343A>T	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923865	0.52653	.	.	ENSG00000204366	ENST00000375527	T	0.14144	2.53	3.82	3.82	0.43975	.	0.598230	0.16028	U	0.232982	T	0.06050	0.0157	L	0.40543	1.245	0.43091	D	0.994768	B	0.26975	0.165	B	0.26416	0.069	T	0.08700	-1.0709	10	0.72032	D	0.01	.	11.577	0.50866	0.0:0.0:0.0:1.0	.	448	Q9Y330	ZBT12_HUMAN	V	448	ENSP00000364677:E448V	ENSP00000364677:E448V	E	-	2	0	ZBTB12	31975719	0.961000	0.32948	1.000000	0.80357	0.969000	0.65631	1.801000	0.38843	1.373000	0.46208	0.260000	0.18958	GAG		0.652	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2		NM_181842		30	42	0	0	0	0.045705	0	30	42		
C6orf10	10665	broad.mit.edu	37	6	32261160	32261160	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:32261160C>G	ENST00000447241.2	-	23	1462	c.1290G>C	c.(1288-1290)aaG>aaC	p.K430N	C6orf10_ENST00000375015.4_Missense_Mutation_p.K429N|C6orf10_ENST00000442822.2_Missense_Mutation_p.K421N|C6orf10_ENST00000375007.4_Missense_Mutation_p.K428N|C6orf10_ENST00000533191.1_Missense_Mutation_p.K428N|C6orf10_ENST00000527965.1_Missense_Mutation_p.K414N	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	430						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTGCCTCAGTCTTCTCTACTT	0.468																																						uc011dpy.1		NaN																	0				skin(1)	1						c.(1288-1290)AAG>AAC		chromosome 6 open reading frame 10							175.0	198.0	190.0					6																	32261160		1511	2708	4219	SO:0001583	missense	10665					integral to membrane		g.chr6:32261160C>G	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1290G>C	6.37:g.32261160C>G	ENSP00000415517:p.Lys430Asn					C6orf10_uc011dpx.1_Missense_Mutation_p.K212N	p.K430N	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			12	1463	-			430					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.1290G>C	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	C	4.914	0.169871	0.09339	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.04502	3.72;3.62;3.66;3.63;3.66;3.61	3.38	-0.517	0.11947	.	.	.	.	.	T	0.01061	0.0035	L	0.35542	1.07	0.09310	N	1	B;B	0.16603	0.001;0.018	B;B	0.21360	0.001;0.034	T	0.48375	-0.9041	9	0.48119	T	0.1	0.0788	1.1421	0.01767	0.1576:0.3767:0.1601:0.3056	.	430;421	Q5SRN2;C9J9T8	CF010_HUMAN;.	N	421;430;429;428;414;428;427;427	ENSP00000411164:K421N;ENSP00000415517:K430N;ENSP00000364155:K429N;ENSP00000431199:K428N;ENSP00000435103:K414N;ENSP00000364146:K428N	ENSP00000303292:K427N	K	-	3	2	C6orf10	32369138	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.068000	0.11561	-0.471000	0.06891	-1.358000	0.01219	AAG		0.468	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4		NM_006781		39	213	0	0	0	0.069456	0	39	213		
C6orf10	10665	broad.mit.edu	37	6	32261600	32261600	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:32261600C>G	ENST00000447241.2	-	23	1022	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	C6orf10_ENST00000375015.4_Missense_Mutation_p.E283Q|C6orf10_ENST00000442822.2_Missense_Mutation_p.E275Q|C6orf10_ENST00000375007.4_Missense_Mutation_p.E282Q|C6orf10_ENST00000533191.1_Missense_Mutation_p.E282Q|C6orf10_ENST00000527965.1_Missense_Mutation_p.E268Q	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	284						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGTCTTTCTCTAAATCAGTG	0.388																																						uc011dpy.1		NaN																	0				skin(1)	1						c.(850-852)GAG>CAG		chromosome 6 open reading frame 10							251.0	255.0	253.0					6																	32261600		1511	2709	4220	SO:0001583	missense	10665					integral to membrane		g.chr6:32261600C>G	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.850G>C	6.37:g.32261600C>G	ENSP00000415517:p.Glu284Gln					C6orf10_uc011dpx.1_Missense_Mutation_p.E66Q	p.E284Q	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			12	1023	-			284					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.850G>C	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810863	0.50421	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.05717	3.43;3.44;3.4;3.41;3.42;3.4	3.57	0.755	0.18415	.	.	.	.	.	T	0.05547	0.0146	L	0.47716	1.5	0.09310	N	1	P;D	0.67145	0.6;0.996	B;D	0.78314	0.215;0.991	T	0.27905	-1.0060	9	0.37606	T	0.19	-6.5673	3.4968	0.07658	0.0:0.4716:0.1957:0.3326	.	284;275	Q5SRN2;C9J9T8	CF010_HUMAN;.	Q	275;284;283;282;268;282;283;281	ENSP00000411164:E275Q;ENSP00000415517:E284Q;ENSP00000364155:E283Q;ENSP00000431199:E282Q;ENSP00000435103:E268Q;ENSP00000364146:E282Q	ENSP00000303292:E281Q	E	-	1	0	C6orf10	32369578	0.007000	0.16637	0.001000	0.08648	0.559000	0.35586	0.679000	0.25291	0.138000	0.18790	0.557000	0.71058	GAG		0.388	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4		NM_006781		8	280	0	0	0	0.038147	0	8	280		
ZBTB22	9278	broad.mit.edu	37	6	33283569	33283569	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:33283569G>A	ENST00000431845.2	-	2	1276	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.V375V|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CACAGAAGTTGACCTGCTCCT	0.602																																						uc003oeb.2		NaN																	0				ovary(1)	1						c.(1123-1125)GTC>GTT		zinc finger and BTB domain containing 22							134.0	138.0	137.0					6																	33283569		2203	4300	6503	SO:0001819	synonymous_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283569G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1125C>T	6.37:g.33283569G>A						TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.V375V	p.V375V	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	1277	-			375					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.1125C>T	CCDS4775.1																																																																																				0.602	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2				28	131	0	0	0	0.125774	0	28	131		
C6orf222	389384	broad.mit.edu	37	6	36298448	36298448	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:36298448G>C	ENST00000437635.2	-	2	197	c.20C>G	c.(19-21)cCa>cGa	p.P7R		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	7										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGGCCTCCTTGGGCACCTTGG	0.532																																						uc003oly.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(19-21)CCA>CGA		hypothetical protein LOC389384							33.0	37.0	36.0					6																	36298448		2159	4234	6393	SO:0001583	missense	389384							g.chr6:36298448G>C		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.20C>G	6.37:g.36298448G>C	ENSP00000418983:p.Pro7Arg						p.P7R	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			2	198	-			7					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.20C>G	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365246	0.41902	.	.	ENSG00000189325	ENST00000437635	T	0.52526	0.66	4.89	3.09	0.35607	.	0.622148	0.13459	N	0.386297	T	0.36193	0.0958	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.71414	0.973	T	0.15093	-1.0449	10	0.72032	D	0.01	-21.5374	7.9854	0.30210	0.1952:0.0:0.8048:0.0	.	7	P0C671	CF222_HUMAN	R	7	ENSP00000418983:P7R	ENSP00000418983:P7R	P	-	2	0	C6orf222	36406426	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.069000	0.14552	0.577000	0.29470	-0.373000	0.07131	CCA		0.532	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2		NM_001010903		12	80	0	0	0	0.11911	0	12	80		
DNAH8	1769	broad.mit.edu	37	6	38840895	38840895	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:38840895C>G	ENST00000359357.3	+	49	7054	c.6800C>G	c.(6799-6801)tCt>tGt	p.S2267C	DNAH8_ENST00000449981.2_Missense_Mutation_p.S2484C|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2231C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2267	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCAGCAGCTCTGCTCTCAGC	0.502																																						uc003ooe.1		NaN																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(6799-6801)TCT>TGT		dynein, axonemal, heavy polypeptide 8							77.0	80.0	79.0					6																	38840895		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38840895C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6800C>G	6.37:g.38840895C>G	ENSP00000352312:p.Ser2267Cys						p.S2267C	NM_001371	NP_001362					49	7400	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6800C>G		.	.	.	.	.	.	.	.	.	.	C	28.4	4.912827	0.92178	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.20069	2.1;2.1;2.1	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60000	-0.7348	10	0.72032	D	0.01	.	20.0621	0.97678	0.0:1.0:0.0:0.0	.	2267	Q96JB1	DYH8_HUMAN	C	2472;2472;2267;2231	ENSP00000333363:S2472C;ENSP00000352312:S2267C;ENSP00000402294:S2231C	ENSP00000333363:S2472C	S	+	2	0	DNAH8	38948873	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.818000	0.86416	2.750000	0.94351	0.655000	0.94253	TCT		0.502	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		22	94	0	0	0	0.083992	0	22	94		
TCTE1	202500	broad.mit.edu	37	6	44254253	44254253	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:44254253C>T	ENST00000371505.4	-	3	416	c.294G>A	c.(292-294)aaG>aaA	p.K98K	TCTE1_ENST00000371504.1_5'Flank|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	98										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAGCATCTGCTTCAGGATAG	0.582																																						uc003oxi.2		NaN																	0				ovary(2)|skin(2)	4						c.(292-294)AAG>AAA		t-complex-associated testis expressed 1							112.0	103.0	106.0					6																	44254253		2203	4300	6503	SO:0001819	synonymous_variant	202500							g.chr6:44254253C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.294G>A	6.37:g.44254253C>T						SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.K98K	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	450	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		98					B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.294G>A	CCDS4910.1																																																																																				0.582	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1		NM_182539		20	112	0	0	0	0.049695	0	20	112		
SNAP91	9892	broad.mit.edu	37	6	84303326	84303326	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:84303326G>C	ENST00000439399.2	-	18	1883	c.1567C>G	c.(1567-1569)Cct>Gct	p.P523A	SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521743.1_Missense_Mutation_p.P523A|SNAP91_ENST00000428679.2_Missense_Mutation_p.P523A|SNAP91_ENST00000520302.1_Missense_Mutation_p.P521A|SNAP91_ENST00000195649.6_Missense_Mutation_p.P523A|SNAP91_ENST00000521485.1_Missense_Mutation_p.P523A|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.P523A	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	523	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		gcaggagaaggagcagTTGCG	0.622																																						uc011dze.1		NaN																	0				ovary(1)	1						c.(1567-1569)CCT>GCT		synaptosomal-associated protein, 91kDa homolog							16.0	23.0	21.0					6																	84303326		2144	4271	6415	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84303326G>C	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1567C>G	6.37:g.84303326G>C	ENSP00000400459:p.Pro523Ala					SNAP91_uc011dzd.1_Missense_Mutation_p.P26A|SNAP91_uc003pkb.2_Missense_Mutation_p.P486A|SNAP91_uc003pkc.2_Missense_Mutation_p.P521A|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.P521A	p.P523A	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	17	1884	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	523			Ala-rich.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.1567C>G	CCDS47455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.47|10.47	1.358206|1.358206	0.24598|0.24598	.|.	.|.	ENSG00000065609|ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000447888|ENST00000369691	T;T;T;T;T;T;T|.	0.14640|.	2.49;2.49;2.49;2.49;2.5;2.49;2.49|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.772717|.	0.12944|.	N|.	0.426323|.	T|T	0.60599|0.60599	0.2281|0.2281	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.40970|.	0.734;0.39;0.003;0.39|.	B;B;B;B|.	0.37015|.	0.239;0.074;0.005;0.074|.	T|T	0.55866|0.55866	-0.8073|-0.8073	10|5	0.16896|.	T|.	0.51|.	-16.1588|-16.1588	19.6728|19.6728	0.95916|0.95916	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	404;521;523;521|.	B7Z2N2;E5RI02;O60641;E1P549|.	.;.;AP180_HUMAN;.|.	A|C	523;523;523;523;523;521;523;206|139	ENSP00000429776:P523A;ENSP00000358708:P523A;ENSP00000400459:P523A;ENSP00000195649:P523A;ENSP00000412492:P523A;ENSP00000428511:P521A;ENSP00000428215:P523A|.	ENSP00000195649:P523A|.	P|S	-|-	1|2	0|0	SNAP91|SNAP91	84360045|84360045	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.396000|6.396000	0.73234|0.73234	2.646000|2.646000	0.89796|0.89796	0.462000|0.462000	0.41574|0.41574	CCT|TCC		0.622	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1				3	6	0	0	0	0.014758	0	3	6		
AIM1	202	broad.mit.edu	37	6	106968294	106968294	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:106968294C>G	ENST00000369066.3	+	2	2474	c.1987C>G	c.(1987-1989)Caa>Gaa	p.Q663E		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGCCACTCCTCAAAGGCCAGA	0.493																																						uc003prh.2		NaN																	0				breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(1987-1989)CAA>GAA		absent in melanoma 1							49.0	48.0	49.0					6																	106968294		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968294C>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1987C>G	6.37:g.106968294C>G	ENSP00000358062:p.Gln663Glu						p.Q663E	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	2474	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	663					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.1987C>G	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015212	0.35511	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71579	-0.58	5.75	4.87	0.63330	.	1.604860	0.03828	N	0.268591	T	0.50973	0.1647	L	0.56769	1.78	0.32678	N	0.515907	B	0.25105	0.118	B	0.21917	0.037	T	0.20806	-1.0264	10	0.15952	T	0.53	.	12.0146	0.53307	0.1731:0.8269:0.0:0.0	.	663	Q9Y4K1	AIM1_HUMAN	E	1071;663	ENSP00000358062:Q663E	ENSP00000285105:Q1071E	Q	+	1	0	AIM1	107074987	0.009000	0.17119	0.002000	0.10522	0.031000	0.12232	2.581000	0.46077	1.390000	0.46547	0.655000	0.94253	CAA		0.493	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1				16	68	0	0	0	0.146539	0	16	68		
RFX6	222546	broad.mit.edu	37	6	117241560	117241560	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:117241560C>G	ENST00000332958.2	+	12	1286	c.1270C>G	c.(1270-1272)Caa>Gaa	p.Q424E		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	424					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTGGCTCTCAAGCCCTTCT	0.418																																						uc003pxm.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1270-1272)CAA>GAA		regulatory factor X, 6							207.0	184.0	192.0					6																	117241560		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117241560C>G	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1270C>G	6.37:g.117241560C>G	ENSP00000332208:p.Gln424Glu						p.Q424E	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			12	1333	+			424					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1270C>G	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814288	0.70912	.	.	ENSG00000185002	ENST00000332958	T	0.61040	0.14	5.47	5.47	0.80525	.	0.112899	0.64402	D	0.000008	T	0.48040	0.1478	M	0.72894	2.215	0.58432	D	0.999999	P	0.40360	0.714	B	0.34242	0.178	T	0.59506	-0.7442	10	0.56958	D	0.05	-14.13	19.344	0.94356	0.0:1.0:0.0:0.0	.	424	Q8HWS3	RFX6_HUMAN	E	424	ENSP00000332208:Q424E	ENSP00000332208:Q424E	Q	+	1	0	RFX6	117348253	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.436000	0.80404	2.534000	0.85438	0.655000	0.94253	CAA		0.418	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2		NM_173560		27	123	0	0	0	0.108266	0	27	123		
CEP85L	387119	broad.mit.edu	37	6	118845073	118845073	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:118845073C>G	ENST00000368491.3	-	4	1652	c.1031G>C	c.(1030-1032)gGa>gCa	p.G344A	CEP85L_ENST00000360290.3_Missense_Mutation_p.G242A|CEP85L_ENST00000419517.2_Missense_Mutation_p.G344A|CEP85L_ENST00000368488.5_Missense_Mutation_p.G347A|CEP85L_ENST00000392500.3_Missense_Mutation_p.G347A	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	344						centrosome (GO:0005813)|cytoplasm (GO:0005737)											ACGAGATGATCCAGTCAAAAC	0.279																																						uc003pxz.1		NaN																	0				breast(1)	1						c.(1030-1032)GGA>GCA		chromosome 6 open reading frame 204 isoform a							90.0	86.0	87.0					6																	118845073		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118845073C>G	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1031G>C	6.37:g.118845073C>G	ENSP00000357477:p.Gly344Ala					C6orf204_uc003pya.1_Missense_Mutation_p.G347A|C6orf204_uc003pyb.2_Missense_Mutation_p.G344A|C6orf204_uc011ebj.1_Missense_Mutation_p.G242A|C6orf204_uc003pyc.2_Missense_Mutation_p.G347A	p.G344A	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	4	1619	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	344					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1031G>C	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125443	0.56721	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.35048	2.81;2.81;2.81;1.62;1.33;1.64	5.87	4.98	0.66077	.	0.067977	0.64402	D	0.000019	T	0.42698	0.1214	L	0.56769	1.78	0.40105	D	0.976413	D;D;D;D	0.76494	0.995;0.999;0.995;0.999	D;D;D;D	0.67548	0.92;0.952;0.92;0.935	T	0.37009	-0.9724	10	0.40728	T	0.16	-19.1654	13.4254	0.61022	0.1576:0.8424:0.0:0.0	.	347;344;347;344	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	A	344;347;347;347;242;344	ENSP00000357477:G344A;ENSP00000357474:G347A;ENSP00000392131:G347A;ENSP00000376288:G347A;ENSP00000353434:G242A;ENSP00000393317:G344A	ENSP00000353434:G242A	G	-	2	0	C6orf204	118951766	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.386000	0.34419	1.444000	0.47605	0.591000	0.81541	GGA		0.279	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2		NM_001042475		18	77	0	0	0	0.062417	0	18	77		
MAP7	9053	broad.mit.edu	37	6	136667001	136667001	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:136667001C>T	ENST00000354570.3	-	17	2642	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	MAP7_ENST00000544465.1_Silent_p.Q729Q|MAP7_ENST00000438100.2_Silent_p.Q729Q|MAP7_ENST00000432797.2_Silent_p.Q598Q|MAP7_ENST00000454590.1_Silent_p.Q766Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	744					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TACCTGCAGTCTGCTGTGTCT	0.488																																						uc003qgz.2		NaN																	0					0						c.(2230-2232)CAG>CAA		microtubule-associated protein 7							75.0	67.0	70.0					6																	136667001		2203	4300	6503	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136667001C>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.2232G>A	6.37:g.136667001C>T						MAP7_uc011edf.1_Silent_p.Q729Q|MAP7_uc011edg.1_Silent_p.Q774Q|MAP7_uc010kgu.2_Silent_p.Q766Q|MAP7_uc011edh.1_Silent_p.Q729Q|MAP7_uc010kgv.2_Silent_p.Q766Q|MAP7_uc010kgs.2_Silent_p.Q598Q|MAP7_uc011edi.1_Silent_p.Q598Q|MAP7_uc010kgq.1_Silent_p.Q650Q|MAP7_uc003qha.1_Silent_p.Q707Q	p.Q744Q	NM_003980	NP_003971	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	17	2478	-	Colorectal(23;0.24)		744					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.2232G>A	CCDS5178.1																																																																																				0.488	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2		NM_003980		8	31	0	0	0	0.047766	0	8	31		
MTRF1L	54516	broad.mit.edu	37	6	153316427	153316427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:153316427C>A	ENST00000367233.5	-	3	366	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	MTRF1L_ENST00000367230.1_Nonsense_Mutation_p.E123*|MTRF1L_ENST00000367231.5_Nonsense_Mutation_p.E123*|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	123						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TCATCTGTTTCTTCTGAGGGA	0.303																																						uc003qpi.3		NaN																	0					0						c.(367-369)GAA>TAA		mitochondrial translational release factor							24.0	24.0	24.0					6																	153316427		2192	4296	6488	SO:0001587	stop_gained	54516					mitochondrion	translation release factor activity, codon specific	g.chr6:153316427C>A	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.367G>T	6.37:g.153316427C>A	ENSP00000356202:p.Glu123*					MTRF1L_uc003qpl.3_Nonsense_Mutation_p.E123*|MTRF1L_uc011efa.1_Nonsense_Mutation_p.E123*|MTRF1L_uc003qpj.3_5'UTR|MTRF1L_uc003qpk.3_Nonsense_Mutation_p.E123*	p.E123*	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)	3	472	-		Ovarian(120;0.125)	123					B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Nonsense_Mutation	SNP	ENST00000367233.5	37	c.367G>T	CCDS5243.1	.	.	.	.	.	.	.	.	.	.	C	37	6.316695	0.97467	.	.	ENSG00000112031	ENST00000367233;ENST00000367231;ENST00000367230;ENST00000414771	.	.	.	5.43	5.43	0.79202	.	0.150965	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.0908	19.2321	0.93843	0.0:1.0:0.0:0.0	.	.	.	.	X	123;123;123;10	.	ENSP00000356199:E123X	E	-	1	0	MTRF1L	153358120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.648000	0.61425	2.551000	0.86045	0.585000	0.79938	GAA		0.303	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1		NM_019041		5	18	1	0	0.00198382	0.02938	0.00224765	5	18		
IGF2R	3482	broad.mit.edu	37	6	160431725	160431725	+	Missense_Mutation	SNP	C	C	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:160431725C>A	ENST00000356956.1	+	4	569	c.421C>A	c.(421-423)Cct>Act	p.P141T		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	141					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ATAGGGAACTCCTGAATTTGT	0.333																																						uc003qta.2		NaN																	0				ovary(3)	3						c.(421-423)CCT>ACT		insulin-like growth factor 2 receptor precursor							62.0	63.0	63.0					6																	160431725		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160431725C>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.421C>A	6.37:g.160431725C>A	ENSP00000349437:p.Pro141Thr						p.P141T	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	4	569	+		Breast(66;0.000777)|Ovarian(120;0.0305)	141			1.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.421C>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572873	0.86542	.	.	ENSG00000197081	ENST00000356956	T	0.54675	0.56	5.87	5.87	0.94306	Mannose-6-phosphate receptor, binding (1);	0.048654	0.85682	D	0.000000	T	0.77631	0.4159	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82246	-0.0552	10	0.87932	D	0	-1.9395	18.9906	0.92789	0.0:1.0:0.0:0.0	.	141	P11717	MPRI_HUMAN	T	141	ENSP00000349437:P141T	ENSP00000349437:P141T	P	+	1	0	IGF2R	160351715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.399000	0.73248	2.780000	0.95670	0.655000	0.94253	CCT		0.333	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876		9	33	1	0	9.70103e-10	0.069234	1.13094e-09	9	33		
MAP3K4	4216	broad.mit.edu	37	6	161527688	161527688	+	Missense_Mutation	SNP	C	C	G	rs181303287		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:161527688C>G	ENST00000392142.4	+	20	4147	c.3999C>G	c.(3997-3999)caC>caG	p.H1333Q	MAP3K4_ENST00000366919.2_Missense_Mutation_p.H1283Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.H1329Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.H1279Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1333					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGTTATGCACGTTGGCTTGA	0.398																																						uc003qtn.2		NaN																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(3997-3999)CAC>CAG		mitogen-activated protein kinase kinase kinase 4							163.0	150.0	154.0					6																	161527688		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161527688C>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3999C>G	6.37:g.161527688C>G	ENSP00000375986:p.His1333Gln					MAP3K4_uc010kkc.1_Missense_Mutation_p.H1329Q|MAP3K4_uc003qto.2_Missense_Mutation_p.H1283Q|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.H786Q|MAP3K4_uc003qtp.2_Missense_Mutation_p.H269Q|MAP3K4_uc003qtq.2_Missense_Mutation_p.H22Q	p.H1333Q	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	20	4141	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1333					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3999C>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.804294	0.31869	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71579	-0.55;-0.58;-0.57;-0.56	4.61	-5.81	0.02340	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	L	0.27053	0.805	0.54753	D	0.999986	B;B;B;B	0.30709	0.01;0.003;0.123;0.291	B;B;B;B	0.27608	0.041;0.001;0.049;0.081	T	0.17198	-1.0377	10	0.13853	T	0.58	-22.2992	16.1371	0.81494	0.0:0.5369:0.0:0.4631	.	1329;269;1283;1333	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	Q	1283;1333;1283;1329;1279	ENSP00000355886:H1283Q;ENSP00000375986:H1333Q;ENSP00000355887:H1329Q;ENSP00000297332:H1279Q	ENSP00000297332:H1279Q	H	+	3	2	MAP3K4	161447678	0.000000	0.05858	0.967000	0.41034	0.531000	0.34715	-1.864000	0.01650	-1.739000	0.01347	-0.352000	0.07741	CAC		0.398	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3				4	47	0	0	0	0.014758	0	4	47		
RADIL	55698	broad.mit.edu	37	7	4917471	4917471	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:4917471G>T	ENST00000399583.3	-	2	487	c.300C>A	c.(298-300)taC>taA	p.Y100*	RADIL_ENST00000536091.1_Nonsense_Mutation_p.Y100*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	100	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGTCCAGGGCGTACCGCTCCA	0.682																																						uc003snj.1		NaN																	0				lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(298-300)TAC>TAA		Rap GTPase interactor							28.0	34.0	32.0					7																	4917471		2044	4155	6199	SO:0001587	stop_gained	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917471G>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.300C>A	7.37:g.4917471G>T	ENSP00000382492:p.Tyr100*					RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	p.Y100*	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	473	-		Ovarian(82;0.0175)	100			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Nonsense_Mutation	SNP	ENST00000399583.3	37	c.300C>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385461	0.61956	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	.	.	.	5.84	-6.33	0.01988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0777	17.9661	0.89099	0.2488:0.0:0.7512:0.0	.	.	.	.	X	100;74;100;100	.	ENSP00000320946:Y74X	Y	-	3	2	RADIL	4883997	0.078000	0.21339	0.527000	0.27925	0.650000	0.38633	-0.496000	0.06436	-1.110000	0.02992	-0.367000	0.07326	TAC		0.682	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2		NM_018059		14	95	1	0	2.61681e-11	0.11911	3.08311e-11	14	95		
DNAH11	8701	broad.mit.edu	37	7	21920409	21920409	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:21920409G>A	ENST00000409508.3	+	75	12316	c.12285G>A	c.(12283-12285)ctG>ctA	p.L4095L	DNAH11_ENST00000328843.6_Silent_p.L4102L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4102	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGGAGACTGAGGTTTGGCC	0.478									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(12304-12306)CTG>CTA		dynein, axonemal, heavy chain 11							113.0	113.0	113.0					7																	21920409		1864	4092	5956	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21920409G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12285G>A	7.37:g.21920409G>A							p.L4102L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			76	12337	+			4102			AAA 6 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.12306G>A																																																																																					0.478	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		39	117	0	0	0	0.092188	0	39	117		
STEAP1B	256227	broad.mit.edu	37	7	22533267	22533267	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:22533267C>T	ENST00000406890.2	-	3	310	c.216G>A	c.(214-216)ctG>ctA	p.L72L	STEAP1B_ENST00000404369.4_Silent_p.L91L	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	72						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						TTACTTCCCTCAGAAGAGTGT	0.403																																						uc003svh.2		NaN																	0					0						c.(214-216)CTG>CTA		SubName: Full=cDNA FLJ60218, highly similar to Six transmembrane epithelial antigen ofprostate 1;							85.0	71.0	76.0					7																	22533267		692	1591	2283	SO:0001819	synonymous_variant	256227					integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:22533267C>T		CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.216G>A	7.37:g.22533267C>T						MGC87042_uc010kum.1_Silent_p.L91L	p.L72L			Q6NZ63	STEAL_HUMAN			3	313	-			72			Helical; (Potential).		B5MCI2	Silent	SNP	ENST00000406890.2	37	c.216G>A	CCDS55094.1																																																																																				0.403	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326617.2				12	86	0	0	0	0.132662	0	12	86		
MALSU1	115416	broad.mit.edu	37	7	23349004	23349004	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:23349004G>C	ENST00000466681.1	+	4	700	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	183					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											GATGCTTCCAGAAACCAGAGA	0.388																																						uc003swd.1		NaN																	0					0						c.(547-549)GAA>CAA		hypothetical protein LOC115416							144.0	139.0	141.0					7																	23349004		2203	4300	6503	SO:0001583	missense	115416					mitochondrion		g.chr7:23349004G>C	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.547G>C	7.37:g.23349004G>C	ENSP00000419370:p.Glu183Gln					C7orf30_uc003swe.2_RNA	p.E183Q	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		4	579	+			183					A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	c.547G>C	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268207	0.80469	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.61	4.67	0.58626	.	0.113428	0.56097	D	0.000023	T	0.62636	0.2444	L	0.58101	1.795	0.40404	D	0.979672	P	0.49862	0.929	P	0.48952	0.596	T	0.66658	-0.5868	9	0.51188	T	0.08	-6.0147	15.9785	0.80089	0.0:0.1348:0.8652:0.0	.	183	Q96EH3	CG030_HUMAN	Q	183	.	ENSP00000419370:E183Q	E	+	1	0	C7orf30	23315529	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.484000	0.81180	2.645000	0.89757	0.591000	0.81541	GAA		0.388	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2		NM_138446		18	93	0	0	0	0.043863	0	18	93		
PPP1R9A	55607	broad.mit.edu	37	7	94919414	94919414	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:94919414G>A	ENST00000433881.1	+	16	3628	c.3096G>A	c.(3094-3096)atG>atA	p.M1032I	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.M1032I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.M1308I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.M1187I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.M1187I|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.M1230I			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1032	Interacts with TGN38. {ECO:0000250}.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCTTGGAATGACAGCATCCC	0.413										HNSCC(28;0.073)																												uc003unp.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(3094-3096)ATG>ATA		protein phosphatase 1, regulatory (inhibitor)							50.0	54.0	53.0					7																	94919414		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94919414G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.3096G>A	7.37:g.94919414G>A	ENSP00000398870:p.Met1032Ile	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.M1308I|PPP1R9A_uc011kif.1_Missense_Mutation_p.M1230I|PPP1R9A_uc003unq.2_Missense_Mutation_p.M1187I|PPP1R9A_uc011kig.1_Missense_Mutation_p.M1024I|PPP1R9A_uc003unr.2_Missense_Mutation_p.M321I	p.M1032I	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	3378	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		1032			Interacts with TGN38 (By similarity).|SAM.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.3096G>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	7.280	0.608984	0.14066	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.79247	-1.25;-1.25;2.52;-1.25;-1.25;2.52	4.87	2.05	0.26809	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.225767	0.45361	N	0.000361	T	0.46870	0.1415	N	0.01535	-0.81	0.21386	N	0.999705	B;B;B;B;B;B	0.09022	0.0;0.0;0.001;0.002;0.0;0.0	B;B;B;B;B;B	0.12156	0.002;0.001;0.003;0.007;0.001;0.001	T	0.38286	-0.9668	10	0.22109	T	0.4	.	8.2139	0.31499	0.1441:0.0:0.7253:0.1307	.	1024;1230;1308;1248;1187;1032	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;E9PCK6;Q9ULJ8	.;.;.;.;.;NEB1_HUMAN	I	1308;1032;1187;1032;1230;1187	ENSP00000405514:M1308I;ENSP00000344524:M1032I;ENSP00000411342:M1187I;ENSP00000398870:M1032I;ENSP00000289495:M1230I;ENSP00000402893:M1187I	ENSP00000289495:M1230I	M	+	3	0	PPP1R9A	94757350	0.996000	0.38824	0.937000	0.37676	0.155000	0.21991	0.887000	0.28254	0.761000	0.33130	0.655000	0.94253	ATG		0.413	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1		NM_001166160		11	51	0	0	0	0.080935	0	11	51		
LAMB4	22798	broad.mit.edu	37	7	107674733	107674733	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:107674733G>C	ENST00000388781.3	-	31	4821	c.4738C>G	c.(4738-4740)Caa>Gaa	p.Q1580E	LAMB4_ENST00000205386.4_Missense_Mutation_p.Q1580E|AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Missense_Mutation_p.Q1580E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1580	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGAGTGATTTGAGCTTGTTGT	0.328																																						uc010ljo.1		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(4738-4740)CAA>GAA		laminin, beta 4 precursor							282.0	268.0	273.0					7																	107674733		2202	4299	6501	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107674733G>C	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4738C>G	7.37:g.107674733G>C	ENSP00000373433:p.Gln1580Glu					LAMB4_uc003vey.2_Missense_Mutation_p.Q1580E|LAMB4_uc010ljp.1_Missense_Mutation_p.Q549E	p.Q1580E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			31	4822	-			1580			Potential.|Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4738C>G	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.400185	0.01165	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.73681	1.6;1.6;-0.77;1.62	5.3	1.26	0.21427	.	1.938930	0.02549	N	0.095479	T	0.49372	0.1553	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.001	T	0.51180	-0.8738	10	0.02654	T	1	.	3.7735	0.08650	0.0874:0.3045:0.4514:0.1567	.	1580;1580	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	E	1580;1580;606;1580	ENSP00000205386:Q1580E;ENSP00000373433:Q1580E;ENSP00000416562:Q606E;ENSP00000373432:Q1580E	ENSP00000205386:Q1580E	Q	-	1	0	LAMB4	107461969	0.001000	0.12720	0.359000	0.25824	0.748000	0.42578	0.467000	0.22035	0.768000	0.33290	0.655000	0.94253	CAA		0.328	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1		XM_209857		42	81	0	0	0	0.11126	0	42	81		
POT1	25913	broad.mit.edu	37	7	124503594	124503594	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:124503594G>A	ENST00000357628.3	-	8	954	c.356C>T	c.(355-357)tCa>tTa	p.S119L	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	119					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATACTTGCTTGAAGTGCGAGG	0.423																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NaN																	0				central_nervous_system(1)	1						c.(355-357)TCA>TTA		protection of telomeres 1 isoform 1							138.0	130.0	133.0					7																	124503594		2203	4299	6502	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124503594G>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.356C>T	7.37:g.124503594G>A	ENSP00000350249:p.Ser119Leu					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_5'UTR|POT1_uc003vln.2_RNA	p.S119L	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			8	957	-			119					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.356C>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813118	0.70912	.	.	ENSG00000128513	ENST00000357628;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T	0.54071	0.59	5.44	5.44	0.79542	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	0.129541	0.53938	D	0.000055	T	0.50326	0.1609	L	0.51422	1.61	0.80722	D	1	B	0.16802	0.019	B	0.15052	0.012	T	0.42085	-0.9472	10	0.38643	T	0.18	.	18.2686	0.90060	0.0:0.0:1.0:0.0	.	119	Q9NUX5	POTE1_HUMAN	L	119;119;119;119;118	ENSP00000350249:S119L	ENSP00000265391:S118L	S	-	2	0	POT1	124290830	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.611000	0.82962	2.543000	0.85770	0.650000	0.86243	TCA		0.423	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1				14	102	0	0	0	0.105934	0	14	102		
NUP205	23165	broad.mit.edu	37	7	135262738	135262738	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:135262738C>T	ENST00000285968.6	+	6	869	c.843C>T	c.(841-843)atC>atT	p.I281I	NUP205_ENST00000440390.2_Silent_p.I75I	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	281					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)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTTTTGATATCAGTTTTATAG	0.363																																						uc003vsw.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(841-843)ATC>ATT		nucleoporin 205kDa							113.0	103.0	106.0					7																	135262738		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135262738C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.843C>T	7.37:g.135262738C>T						NUP205_uc011kqa.1_RNA	p.I281I	NM_015135	NP_055950	Q92621	NU205_HUMAN			6	874	+			281					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.843C>T	CCDS34759.1																																																																																				0.363	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1				10	52	0	0	0	0.069234	0	10	52		
OR6B1	135946	broad.mit.edu	37	7	143701978	143701978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:143701978G>T	ENST00000408922.2	+	1	957	c.889G>T	c.(889-891)Gaa>Taa	p.E297*		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K296fs*1(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					AGAGGTCAAGGAAGCTCTGAA	0.433																																						uc003wdt.1		NaN																	1	Deletion - Frameshift(1)		breast(1)	ovary(1)	1						c.(889-891)GAA>TAA		olfactory receptor, family 6, subfamily B,							56.0	53.0	54.0					7																	143701978		1883	4102	5985	SO:0001587	stop_gained	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701978G>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.889G>T	7.37:g.143701978G>T	ENSP00000386151:p.Glu297*						p.E297*	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	889	+	Melanoma(164;0.0783)		297			Cytoplasmic (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Nonsense_Mutation	SNP	ENST00000408922.2	37	c.889G>T	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656914	0.88154	.	.	ENSG00000221813	ENST00000408922	.	.	.	5.11	4.21	0.49690	.	0.648819	0.12565	U	0.457838	.	.	.	.	.	.	0.41886	D	0.990342	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	8.408	0.32627	0.0:0.1701:0.6537:0.1762	.	.	.	.	X	297	.	ENSP00000386151:E297X	E	+	1	0	OR6B1	143332911	0.013000	0.17824	1.000000	0.80357	0.971000	0.66376	1.497000	0.35649	1.348000	0.45733	0.655000	0.94253	GAA		0.433	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1				16	64	1	0	1.02788e-11	0.0333	1.21427e-11	16	64		
AOC1	26	broad.mit.edu	37	7	150554983	150554983	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr7:150554983G>A	ENST00000493429.1	+	4	2009	c.1425G>A	c.(1423-1425)atG>atA	p.M475I	AOC1_ENST00000467291.1_Missense_Mutation_p.M475I|AOC1_ENST00000416793.2_Missense_Mutation_p.M475I|AOC1_ENST00000360937.4_Missense_Mutation_p.M475I			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	475					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	ACGGGGTGATGGAGGCCAAGA	0.577																																						uc003why.1		NaN																	0				ovary(2)|breast(2)|skin(2)	6						c.(1423-1425)ATG>ATA		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						72.0	78.0	76.0					7																	150554983		2130	4244	6374	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554983G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1425G>A	7.37:g.150554983G>A	ENSP00000418614:p.Met475Ile					ABP1_uc003whz.1_Missense_Mutation_p.M475I|ABP1_uc003wia.1_Missense_Mutation_p.M475I	p.M475I	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	5643	+	all_neural(206;0.219)		475					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1425G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.439991	0.25900	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	4.96	4.96	0.65561	Copper amine oxidase, C-terminal (3);	0.182426	0.64402	D	0.000018	T	0.01905	0.0060	N	0.17838	0.53	0.58432	D	0.999998	B;B	0.09022	0.002;0.002	B;B	0.17098	0.012;0.017	T	0.39961	-0.9588	10	0.02654	T	1	-20.4185	16.083	0.81017	0.0:0.0:1.0:0.0	.	475;475	C9J690;P19801	.;ABP1_HUMAN	I	475;475;475;1;475;351	ENSP00000418614:M475I;ENSP00000418328:M475I;ENSP00000354193:M475I;ENSP00000411613:M475I	ENSP00000354193:M475I	M	+	3	0	ABP1	150185916	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.174000	0.42482	2.735000	0.93741	0.561000	0.74099	ATG		0.577	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1		NM_001091		38	71	0	0	0	0.086207	0	38	71		
TRIM35	23087	broad.mit.edu	37	8	27168708	27168708	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:27168708G>C	ENST00000305364.4	-	1	128	c.45C>G	c.(43-45)ttC>ttG	p.F15L	PTK2B_ENST00000544172.1_5'Flank|TRIM35_ENST00000521253.1_Missense_Mutation_p.F15L|PTK2B_ENST00000397501.1_5'Flank|PTK2B_ENST00000338238.4_5'Flank	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	15					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACTCCTCCTTGAAGGAGCGGG	0.706																																						uc003xfl.1		NaN																	0					0						c.(43-45)TTC>TTG		tripartite motif-containing 35 isoform 2							11.0	15.0	14.0					8																	27168708		2184	4277	6461	SO:0001583	missense	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27168708G>C	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.45C>G	8.37:g.27168708G>C	ENSP00000301924:p.Phe15Leu					PTK2B_uc003xfn.1_5'Flank|PTK2B_uc003xfo.1_5'Flank|TRIM35_uc010lup.1_Missense_Mutation_p.F15L|TRIM35_uc003xfm.1_RNA	p.F15L	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	1	127	-		Ovarian(32;2.61e-05)	15					Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	37	c.45C>G	CCDS6056.2	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385967	0.42308	.	.	ENSG00000104228	ENST00000305364;ENST00000380544;ENST00000521253	T;T	0.14640	2.49;2.49	5.46	2.52	0.30459	Zinc finger, RING/FYVE/PHD-type (1);	0.092452	0.48286	D	0.000198	T	0.03263	0.0095	N	0.01656	-0.775	0.37056	D	0.897845	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.37731	-0.9693	10	0.02654	T	1	.	5.6098	0.17398	0.1756:0.2688:0.5556:0.0	.	15;15	E5RGB3;Q9UPQ4	.;TRI35_HUMAN	L	15	ENSP00000301924:F15L;ENSP00000428770:F15L	ENSP00000301924:F15L	F	-	3	2	TRIM35	27224625	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.804000	0.27098	0.675000	0.31264	0.555000	0.69702	TTC		0.706	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2		NM_171982		5	5	0	0	0	0.021553	0	5	5		
TRAM1	23471	broad.mit.edu	37	8	71508503	71508503	+	Silent	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:71508503C>G	ENST00000262213.2	-	5	649	c.480G>C	c.(478-480)ctG>ctC	p.L160L	TRAM1_ENST00000536748.1_Silent_p.L129L|TRAM1_ENST00000521425.1_Silent_p.L74L|TRAM1_ENST00000521049.1_Intron	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	160	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CTTACGTCATCAGGTTATGGG	0.363																																					Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.1		NaN																	0				ovary(1)	1						c.(478-480)CTG>CTC		translocation associated membrane protein 1							134.0	133.0	133.0					8																	71508503		2203	4300	6503	SO:0001819	synonymous_variant	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71508503C>G	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.480G>C	8.37:g.71508503C>G						TRAM1_uc011lfc.1_Silent_p.L129L	p.L160L	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		5	650	-			160			Helical; (Potential).|TLC.		B4E0K2	Silent	SNP	ENST00000262213.2	37	c.480G>C	CCDS6207.1																																																																																				0.363	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1		NM_014294		19	79	0	0	0	0.038395	0	19	79		
KCNB2	9312	broad.mit.edu	37	8	73848919	73848919	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:73848919C>T	ENST00000523207.1	+	3	1917	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	443					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TTGAGCGGGCCAAAAGGAACG	0.458																																						uc003xzb.2		NaN																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1327-1329)GCC>GCT		potassium voltage-gated channel, Shab-related							70.0	74.0	73.0					8																	73848919		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848919C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1329C>T	8.37:g.73848919C>T							p.A443A	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1917	+	Breast(64;0.137)		443			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1329C>T	CCDS6209.1																																																																																				0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1		NM_004770		21	95	0	0	0	0.069288	0	21	95		
FABP9	646480	broad.mit.edu	37	8	82373707	82373707	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:82373707C>G	ENST00000379071.2	-	1	107	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	18					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			ATGTAATCCTCAAAGTTTTCA	0.393																																						uc011lfo.1		NaN																	0					0						c.(52-54)GAG>CAG		fatty acid binding protein 9, testis							149.0	156.0	153.0					8																	82373707		2203	4300	6503	SO:0001583	missense	646480						lipid binding|transporter activity	g.chr8:82373707C>G			8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"""Fatty acid binding protein family"""	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.52G>C	8.37:g.82373707C>G	ENSP00000368362:p.Glu18Gln						p.E18Q	NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	Epithelial(68;0.186)		1	52	-			18						Missense_Mutation	SNP	ENST00000379071.2	37	c.52G>C		.	.	.	.	.	.	.	.	.	.	C	21.8	4.204782	0.79127	.	.	ENSG00000205186	ENST00000379071	T	0.10099	2.91	5.21	4.34	0.51931	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.219508	0.44688	D	0.000422	T	0.26521	0.0648	M	0.82056	2.57	0.40745	D	0.982866	D	0.58620	0.983	P	0.55345	0.774	T	0.06110	-1.0845	10	0.66056	D	0.02	.	11.0331	0.47785	0.0:0.9128:0.0:0.0872	.	18	Q0Z7S8	FABP9_HUMAN	Q	18	ENSP00000368362:E18Q	ENSP00000368362:E18Q	E	-	1	0	FABP9	82536262	1.000000	0.71417	0.984000	0.44739	0.983000	0.72400	5.054000	0.64275	1.426000	0.47256	0.563000	0.77884	GAG		0.393	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2		NM_001080526		26	127	0	0	0	0.116897	0	26	127		
TMEM67	91147	broad.mit.edu	37	8	94767171	94767171	+	Missense_Mutation	SNP	C	C	T	rs146838062		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:94767171C>T	ENST00000453321.3	+	1	87	c.29C>T	c.(28-30)gCa>gTa	p.A10V	TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	10					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GCTGGGGTGGCAATGGCGGTT	0.642																																						uc011lgk.1		NaN																	0				ovary(2)	2						c.(28-30)GCA>GTA		meckelin isoform 1							80.0	84.0	83.0					8																	94767171		2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94767171C>T	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.29C>T	8.37:g.94767171C>T	ENSP00000389998:p.Ala10Val					TMEM67_uc010mau.2_Missense_Mutation_p.A10V|TMEM67_uc010mav.2_Missense_Mutation_p.A10V|TMEM67_uc010mat.1_Intron|TMEM67_uc010maw.2_Missense_Mutation_p.A10V|TMEM67_uc003yga.3_Intron	p.A10V	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		1	100	+	Breast(36;4.14e-07)		10			Helical; (Potential).		B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.29C>T	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407370	0.42715	.	.	ENSG00000164953	ENST00000453321;ENST00000453906	D;D	0.97404	-4.37;-3.92	5.35	0.359	0.16088	.	0.637140	0.15419	N	0.263343	D	0.92133	0.7506	L	0.40543	1.245	0.19575	N	0.999968	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.09377	0.001;0.003;0.004	D	0.83950	0.0316	10	0.72032	D	0.01	-0.0028	0.5998	0.00742	0.3019:0.3278:0.1306:0.2397	.	10;10;10	Q5HYA8;F8WCQ6;E5RH38	MKS3_HUMAN;.;.	V	10	ENSP00000389998:A10V;ENSP00000403035:A10V	ENSP00000389998:A10V	A	+	2	0	TMEM67	94836347	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.201000	0.09464	-0.113000	0.11958	0.585000	0.79938	GCA		0.642	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2		NM_153704		23	107	0	0	0	0.099896	0	23	107		
DPYS	1807	broad.mit.edu	37	8	105463544	105463544	+	Missense_Mutation	SNP	C	C	T	rs368802826		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:105463544C>T	ENST00000351513.2	-	2	485	c.353G>A	c.(352-354)cGa>cAa	p.R118Q		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	118					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCCAGCTTCGCCAGGTCTC	0.522																																						uc003yly.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(352-354)CGA>CAA		dihydropyrimidinase		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	105.0	91.0	96.0		353	5.5	1.0	8		96	0,8600		0,0,4300	no	missense	DPYS	NM_001385.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	118/520	105463544	1,13005	2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105463544C>T	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.353G>A	8.37:g.105463544C>T	ENSP00000276651:p.Arg118Gln						p.R118Q	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	482	-			118						Missense_Mutation	SNP	ENST00000351513.2	37	c.353G>A	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	34	5.387074	0.95988	2.27E-4	0.0	ENSG00000147647	ENST00000351513	D	0.90676	-2.71	5.5	5.5	0.81552	Amidohydrolase 1 (1);	0.060299	0.64402	D	0.000006	D	0.92522	0.7625	L	0.52206	1.635	0.52501	D	0.999951	D	0.71674	0.998	P	0.62298	0.9	D	0.92111	0.5696	10	0.56958	D	0.05	-15.0402	13.244	0.60014	0.0:0.9187:0.0:0.0813	.	118	Q14117	DPYS_HUMAN	Q	118	ENSP00000276651:R118Q	ENSP00000276651:R118Q	R	-	2	0	DPYS	105532720	0.998000	0.40836	0.960000	0.40013	0.958000	0.62258	3.708000	0.54845	2.861000	0.98227	0.655000	0.94253	CGA		0.522	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1		NM_001385		7	42	0	0	0	0.02938	0	7	42		
MFSD3	113655	broad.mit.edu	37	8	145737627	145737627	+	IGR	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:145737627C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.E1046K|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCCTTCTCCTCAGCGGTCAAG	0.637																																						uc003zdj.2		NaN								N|F|S						osteosarcoma|skin basal and sqamous cell			0				breast(2)|lung(1)|skin(1)	4						c.(3136-3138)GAG>AAG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4							34.0	38.0	37.0					8																	145737627		2047	4202	6249	SO:0001628	intergenic_variant	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145737627C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737627C>T							p.E1046K	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		19	3168	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1046						Missense_Mutation	SNP	ENST00000301327.4	37	c.3136G>A	CCDS6431.1																																																																																				0.637	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2		NM_138431		11	37	0	0	0	0.105934	0	11	37		
ARHGAP39	80728	broad.mit.edu	37	8	145770988	145770988	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr8:145770988C>G	ENST00000276826.5	-	5	2367	c.2166G>C	c.(2164-2166)tgG>tgC	p.W722C	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.W722C|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.W722C|ARHGAP39_ENST00000528810.1_5'UTR			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	722	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACTCGCTGCTCCAGGCCAGCA	0.592																																						uc003zdt.1		NaN																	0					0						c.(2164-2166)TGG>TGC		KIAA1688 protein							77.0	69.0	72.0					8																	145770988		2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145770988C>G		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2166G>C	8.37:g.145770988C>G	ENSP00000276826:p.Trp722Cys					ARHGAP39_uc011llk.1_Missense_Mutation_p.W722C|ARHGAP39_uc003zds.1_Missense_Mutation_p.W722C	p.W722C	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			7	2721	-			722			MyTH4.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2166G>C		.	.	.	.	.	.	.	.	.	.	C	20.8	4.056755	0.76074	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.72942	-0.7;-0.46;-0.7	5.22	5.22	0.72569	MyTH4 domain (1);	0.000000	0.85682	D	0.000000	D	0.86456	0.5937	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88814	0.3294	10	0.66056	D	0.02	-16.0013	16.272	0.82626	0.0:1.0:0.0:0.0	.	722;722	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	C	722	ENSP00000276826:W722C;ENSP00000366522:W722C;ENSP00000445075:W722C	ENSP00000276826:W722C	W	-	3	0	ARHGAP39	145741796	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.663000	0.83820	2.427000	0.82271	0.650000	0.86243	TGG		0.592	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1				12	33	0	0	0	0.09319	0	12	33		
GLDC	2731	broad.mit.edu	37	9	6592946	6592946	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:6592946C>G	ENST00000321612.6	-	10	1456	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	436					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTCAAGGTATCAAAGAACAGG	0.507																																						uc003zkc.2		NaN																	0				ovary(2)	2						c.(1306-1308)GAT>CAT		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						83.0	75.0	78.0					9																	6592946		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6592946C>G	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1306G>C	9.37:g.6592946C>G	ENSP00000370737:p.Asp436His						p.D436H	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	10	1499	-		Acute lymphoblastic leukemia(23;0.161)	436					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1306G>C	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192884	0.78902	.	.	ENSG00000178445	ENST00000321612	D	0.97279	-4.32	5.74	5.74	0.90152	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98523	0.9507	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99316	1.0905	10	0.87932	D	0	-29.5806	19.9214	0.97087	0.0:1.0:0.0:0.0	.	436	P23378	GCSP_HUMAN	H	436	ENSP00000370737:D436H	ENSP00000370737:D436H	D	-	1	0	GLDC	6582946	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	6.868000	0.75516	2.716000	0.92895	0.563000	0.77884	GAT		0.507	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2		NM_000170		18	90	0	0	0	0.038395	0	18	90		
MPDZ	8777	broad.mit.edu	37	9	13176368	13176368	+	Missense_Mutation	SNP	G	G	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:13176368G>C	ENST00000319217.7	-	20	2945	c.2698C>G	c.(2698-2700)Ctg>Gtg	p.L900V	MPDZ_ENST00000381022.2_Missense_Mutation_p.L900V|MPDZ_ENST00000546205.1_Missense_Mutation_p.L900V|MPDZ_ENST00000541718.1_Missense_Mutation_p.L900V|MPDZ_ENST00000536827.1_Missense_Mutation_p.L900V|MPDZ_ENST00000447879.1_Missense_Mutation_p.L900V|MPDZ_ENST00000381015.4_Missense_Mutation_p.L900V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	900					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AGTTCCTCCAGAGACATATGC	0.378																																						uc010mia.1		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(2698-2700)CTG>GTG		multiple PDZ domain protein							49.0	42.0	44.0					9																	13176368		1846	4092	5938	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13176368G>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2698C>G	9.37:g.13176368G>C	ENSP00000320006:p.Leu900Val					MPDZ_uc003zkz.3_5'Flank|MPDZ_uc010mhy.2_Missense_Mutation_p.L900V|MPDZ_uc010mhz.2_Missense_Mutation_p.L900V|MPDZ_uc011lmn.1_Missense_Mutation_p.L900V|MPDZ_uc003zlb.3_Missense_Mutation_p.L900V	p.L900V	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	19	2755	-			900					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.2698C>G		.	.	.	.	.	.	.	.	.	.	G	7.955	0.745622	0.15710	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11063	2.86;2.81;2.81;2.84;2.88;2.86;2.86	5.48	-0.594	0.11664	.	0.978539	0.08296	N	0.967648	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	B;B;B	0.23650	0.002;0.001;0.089	B;B;B	0.23574	0.002;0.003;0.047	T	0.44267	-0.9339	10	0.27785	T	0.31	.	0.6577	0.00837	0.2601:0.3291:0.1721:0.2386	.	900;900;900	B7ZMI4;O75970-3;O75970-2	.;.;.	V	900;900;900;900;900;900;850;900	ENSP00000320006:L900V;ENSP00000439807:L900V;ENSP00000370410:L900V;ENSP00000444151:L900V;ENSP00000415208:L900V;ENSP00000370403:L900V;ENSP00000446358:L900V	ENSP00000320006:L900V	L	-	1	2	MPDZ	13166368	0.877000	0.30153	0.941000	0.38009	0.891000	0.51852	0.375000	0.20518	0.118000	0.18165	-0.339000	0.08088	CTG		0.378	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		4	26	0	0	0	0.009096	0	4	26		
ZCCHC7	84186	broad.mit.edu	37	9	37126696	37126696	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:37126696C>T	ENST00000336755.5	+	2	473	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.L122F|ZCCHC7_ENST00000534928.1_Intron	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	123						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TTCTTCTTCTCTTCAATCTAA	0.368																																						uc003zzq.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(367-369)CTT>TTT		zinc finger, CCHC domain containing 7							131.0	133.0	132.0					9																	37126696		2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37126696C>T	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.367C>T	9.37:g.37126696C>T	ENSP00000337839:p.Leu123Phe					ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.L122F|ZCCHC7_uc010mlt.2_Missense_Mutation_p.L122F|ZCCHC7_uc003zzs.1_Missense_Mutation_p.L122F	p.L123F	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	2	540	+			123					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.367C>T	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	C	2.592	-0.294869	0.05568	.	.	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.45668	1.46;0.89	4.97	-0.508	0.11980	.	0.807615	0.10732	N	0.640535	T	0.25644	0.0624	L	0.40543	1.245	0.09310	N	1	P;P	0.44380	0.834;0.744	B;B	0.36845	0.234;0.165	T	0.15321	-1.0441	10	0.52906	T	0.07	-6.7685	2.2386	0.04014	0.2333:0.4651:0.1055:0.196	.	123;123	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	F	123;122	ENSP00000337839:L123F;ENSP00000316365:L122F	ENSP00000316365:L122F	L	+	1	0	ZCCHC7	37116696	0.000000	0.05858	0.006000	0.13384	0.039000	0.13416	-0.484000	0.06528	-0.178000	0.10672	-0.196000	0.12772	CTT		0.368	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2		NM_032226		25	196	0	0	0	0.083992	0	25	196		
TRPM3	80036	broad.mit.edu	37	9	73230868	73230868	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:73230868C>G	ENST00000377111.2	-	17	2689	c.2446G>C	c.(2446-2448)Gag>Cag	p.E816Q	TRPM3_ENST00000360823.2_Missense_Mutation_p.E678Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E678Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E663Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E665Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E675Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E843Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E675Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E820Q|TRPM3_ENST00000377110.3_Missense_Mutation_p.E816Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E688Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E688Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	841					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTGGGCTTCTCTGGTTCTTCT	0.458																																						uc004aid.2		NaN																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(2446-2448)GAG>CAG		transient receptor potential cation channel,							252.0	221.0	232.0					9																	73230868		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73230868C>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2446G>C	9.37:g.73230868C>G	ENSP00000366315:p.Glu816Gln					TRPM3_uc004ahu.2_Missense_Mutation_p.E646Q|TRPM3_uc004ahv.2_Missense_Mutation_p.E618Q|TRPM3_uc004ahw.2_Missense_Mutation_p.E688Q|TRPM3_uc004ahx.2_Missense_Mutation_p.E675Q|TRPM3_uc004ahy.2_Missense_Mutation_p.E678Q|TRPM3_uc004ahz.2_Missense_Mutation_p.E665Q|TRPM3_uc004aia.2_Missense_Mutation_p.E663Q|TRPM3_uc004aib.2_Missense_Mutation_p.E653Q|TRPM3_uc004aic.2_Missense_Mutation_p.E816Q	p.E816Q	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			17	2690	-			841			Extracellular (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2446G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.23|14.23	2.473182|2.473182	0.43942|0.43942	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	D;D;D;D;D;D;D;D;D;D;D|.	0.81996|.	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.178896|.	0.49305|.	D|.	0.000145|.	T|T	0.56949|0.56949	0.2020|0.2020	N|N	0.25647|0.25647	0.755|0.755	0.53005|0.53005	D|D	0.999969|0.999969	B;B;P;B;B;P;B;B|.	0.38167|.	0.004;0.162;0.621;0.112;0.004;0.621;0.157;0.037|.	B;B;B;B;B;B;B;B|.	0.35607|.	0.026;0.091;0.206;0.063;0.012;0.206;0.133;0.012|.	T|T	0.49925|0.49925	-0.8887|-0.8887	10|5	0.21014|.	T|.	0.42|.	-25.2732|-25.2732	19.1491|19.1491	0.93481|0.93481	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	816;816;806;820;678;675;788;663|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	Q|T	816;816;688;678;675;820;675;663;688;678;843|664	ENSP00000366315:E816Q;ENSP00000366314:E816Q;ENSP00000366310:E688Q;ENSP00000354066:E678Q;ENSP00000366309:E675Q;ENSP00000350140:E820Q;ENSP00000386127:E675Q;ENSP00000379581:E663Q;ENSP00000379587:E688Q;ENSP00000350791:E678Q;ENSP00000389542:E843Q|.	ENSP00000350140:E820Q|.	E|R	-|-	1|2	0|0	TRPM3|TRPM3	72420688|72420688	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.963000|0.963000	0.63663|0.63663	5.346000|5.346000	0.65992|0.65992	2.765000|2.765000	0.95021|0.95021	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5		NM_206945		21	77	0	0	0	0.062417	0	21	77		
ALG2	85365	broad.mit.edu	37	9	101980827	101980827	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:101980827C>T	ENST00000476832.1	-	2	701	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	ALG2_ENST00000319033.6_Missense_Mutation_p.E121K	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TCCAGCTTTTCAGGAACAACT	0.448																																						uc004azf.2		NaN																	0				ovary(2)	2						c.(640-642)GAA>AAA		alpha-1,3-mannosyltransferase ALG2							102.0	105.0	104.0					9																	101980827		2203	4300	6503	SO:0001583	missense	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980827C>T	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.640G>A	9.37:g.101980827C>T	ENSP00000417764:p.Glu214Lys					ALG2_uc004azg.2_Missense_Mutation_p.E121K	p.E214K	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			2	710	-		Acute lymphoblastic leukemia(62;0.0559)	214					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000476832.1	37	c.640G>A	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672738	0.47781	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	T;T	0.78707	-1.2;-1.2	5.38	4.44	0.53790	.	0.524251	0.22074	N	0.064983	T	0.68165	0.2971	L	0.38175	1.15	0.50632	D	0.999885	B;B	0.09022	0.002;0.002	B;B	0.19666	0.015;0.026	T	0.61317	-0.7087	10	0.11182	T	0.66	-19.5304	16.0317	0.80582	0.1344:0.8655:0.0:0.0	.	121;214	Q9H553-2;Q9H553	.;ALG2_HUMAN	K	214;121	ENSP00000417764:E214K;ENSP00000326609:E121K	ENSP00000432675:E121K	E	-	1	0	ALG2	101020648	0.986000	0.35501	0.973000	0.42090	0.985000	0.73830	4.612000	0.61169	2.683000	0.91414	0.650000	0.86243	GAA		0.448	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1		NM_033087		26	69	0	0	0	0.0918	0	26	69		
ORM2	5005	broad.mit.edu	37	9	117093120	117093120	+	Silent	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:117093120G>A	ENST00000431067.2	+	3	342	c.306G>A	c.(304-306)gaG>gaA	p.E102E	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	102				E -> D (in Ref. 3; BAG35159). {ECO:0000305}.	acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	TCCAGCGGGAGAATGGGACCG	0.542																																					NSCLC(65;867 1308 1814 2391 12508)	uc004bil.2		NaN																	0					0						c.(304-306)GAG>GAA		orosomucoid 2 precursor							79.0	76.0	77.0					9																	117093120		2203	4300	6503	SO:0001819	synonymous_variant	5005				acute-phase response|regulation of immune system process|transport	extracellular space	binding	g.chr9:117093120G>A		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.306G>A	9.37:g.117093120G>A						ORM1_uc011lxo.1_Intron	p.E102E	NM_000608	NP_000599	P19652	A1AG2_HUMAN			3	422	+		Myeloproliferative disorder(63;0.163)	102	E -> D (in Ref. 3; BAG35159).				B2R5L2|Q16571|Q5T538|Q6IB74	Silent	SNP	ENST00000431067.2	37	c.306G>A	CCDS6804.1																																																																																				0.542	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1		NM_000608		32	18	0	0	0	0.064281	0	32	18		
SETX	23064	broad.mit.edu	37	9	135205429	135205429	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:135205429G>A	ENST00000224140.5	-	10	1738	c.1556C>T	c.(1555-1557)tCt>tTt	p.S519F	SETX_ENST00000393220.1_Missense_Mutation_p.S519F|SETX_ENST00000372169.2_Missense_Mutation_p.S519F	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	519					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGACAGTGAAGATATCATTGC	0.448																																						uc004cbk.2		NaN																	0				ovary(2)|skin(1)	3						c.(1555-1557)TCT>TTT		senataxin							127.0	131.0	129.0					9																	135205429		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205429G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1556C>T	9.37:g.135205429G>A	ENSP00000224140:p.Ser519Phe					SETX_uc004cbj.2_Missense_Mutation_p.S138F|SETX_uc010mzt.2_Missense_Mutation_p.S138F	p.S519F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1739	-		Myeloproliferative disorder(178;0.204)	519					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.1556C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697773	0.68386	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.81908	-1.55;-1.55;-1.55	5.92	5.92	0.95590	.	0.803066	0.10976	N	0.613191	D	0.87708	0.6245	L	0.29908	0.895	0.09310	N	0.999992	D;D;D	0.89917	0.958;0.998;1.0	P;P;D	0.68943	0.66;0.879;0.961	T	0.81369	-0.0964	10	0.56958	D	0.05	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	519;519;519	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	F	519	ENSP00000224140:S519F;ENSP00000361242:S519F;ENSP00000376913:S519F	ENSP00000224140:S519F	S	-	2	0	SETX	134195250	0.894000	0.30519	0.010000	0.14722	0.890000	0.51754	6.722000	0.74735	2.801000	0.96364	0.650000	0.86243	TCT		0.448	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3		NM_015046		5	142	0	0	0	0.014758	0	5	142		
TSC1	7248	broad.mit.edu	37	9	135778175	135778175	+	Splice_Site	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:135778175C>G	ENST00000298552.3	-	18	2430		c.e18-1		TSC1_ENST00000440111.2_Splice_Site|TSC1_ENST00000545250.1_Splice_Site	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1						activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACTGATCTTTCTAGCAGAGAC	0.423			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cca.2		NaN	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			1	Unknown(1)	p.?(1)	bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.e18-1		tuberous sclerosis 1 protein isoform 1							161.0	142.0	148.0					9																	135778175		2203	4300	6503	SO:0001630	splice_region_variant	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135778175C>G	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2209-1G>C	9.37:g.135778175C>G			OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1620	TSC1_uc004ccb.3_Splice_Site_p.K736_splice|TSC1_uc011mcq.1_Splice_Site_p.K686_splice|TSC1_uc011mcr.1_Intron	p.K737_splice	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	18	2443	-								B7Z897|Q5VVN5	Splice_Site	SNP	ENST00000298552.3	37	c.2209_splice	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509449	0.85282	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7927	0.91980	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSC1	134767996	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.369000	0.79578	2.676000	0.91093	0.655000	0.94253	.		0.423	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			Intron	45	24	0	0	0	0.117977	0	45	24		
SEC16A	9919	broad.mit.edu	37	9	139358996	139358996	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139358996G>A	ENST00000371706.3	-	7	3821	c.3788C>T	c.(3787-3789)tCt>tTt	p.S1263F	SEC16A_ENST00000313050.7_Missense_Mutation_p.S1441F|SEC16A_ENST00000290037.6_Missense_Mutation_p.S1263F|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1263F			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1263					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTTTCAGGAGAAGTTGGTCT	0.438																																						uc004chx.2		NaN																	0					0						c.(4321-4323)TCT>TTT		SEC16 homolog A							71.0	75.0	74.0					9																	139358996		1859	4098	5957	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139358996G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3788C>T	9.37:g.139358996G>A	ENSP00000360771:p.Ser1263Phe					SEC16A_uc004chv.3_Missense_Mutation_p.S831F|SEC16A_uc004chw.2_Missense_Mutation_p.S1441F|SEC16A_uc010nbn.2_Missense_Mutation_p.S1441F	p.S1441F	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	9	4631	-		Myeloproliferative disorder(178;0.0511)	1263					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.4322C>T		.	.	.	.	.	.	.	.	.	.	G	27.9	4.872870	0.91587	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T	0.31510	1.89;1.49;1.89;1.89;1.89	5.79	5.79	0.91817	.	0.159807	0.56097	D	0.000036	T	0.54255	0.1847	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.999;0.998	P;D;D;P	0.72338	0.853;0.977;0.953;0.898	T	0.52609	-0.8553	10	0.72032	D	0.01	-26.9708	19.02	0.92910	0.0:0.0:1.0:0.0	.	1441;1263;1263;831	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	F	1441;163;1263;1263;1263;831	ENSP00000325827:S1441F;ENSP00000403525:S163F;ENSP00000360771:S1263F;ENSP00000290037:S1263F;ENSP00000387583:S1263F	ENSP00000290037:S1263F	S	-	2	0	SEC16A	138478817	1.000000	0.71417	0.822000	0.32727	0.996000	0.88848	9.726000	0.98782	2.737000	0.93849	0.655000	0.94253	TCT		0.438	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		XM_088459		16	44	0	0	0	0.132662	0	16	44		
C9orf172	389813	broad.mit.edu	37	9	139739870	139739870	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139739870C>T	ENST00000436881.1	+	1	1004	c.1004C>T	c.(1003-1005)cCa>cTa	p.P335L		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	335	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						CGCACCTTCCCAATCCAGGAA	0.692																																						uc011meh.1		NaN																	0					0						c.(1003-1005)CCA>CTA		chromosome 9 open reading frame 172							18.0	20.0	20.0					9																	139739870		1951	4127	6078	SO:0001583	missense	389813							g.chr9:139739870C>T		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.1004C>T	9.37:g.139739870C>T	ENSP00000412388:p.Pro335Leu					PHPT1_uc004cjp.2_5'Flank	p.P335L	NM_001080482	NP_001073951	C9J069	CI172_HUMAN			1	1004	+			335			Pro-rich.			Missense_Mutation	SNP	ENST00000436881.1	37	c.1004C>T	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	2.420	-0.333311	0.05278	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.5	3.5	0.40072	.	.	.	.	.	T	0.37100	0.0991	L	0.27053	0.805	0.49687	D	0.999811	P	0.42941	0.794	B	0.43052	0.406	T	0.27739	-1.0065	8	0.02654	T	1	.	12.5892	0.56434	0.0:1.0:0.0:0.0	.	335	C9J069	CI172_HUMAN	L	335	.	ENSP00000412388:P335L	P	+	2	0	C9orf172	138859691	0.869000	0.29996	0.685000	0.30070	0.521000	0.34408	2.129000	0.42055	1.794000	0.52575	0.537000	0.68136	CCA		0.692	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001080482		6	22	0	0	0	0.021553	0	6	22		
C9orf172	389813	broad.mit.edu	37	9	139741083	139741083	+	Missense_Mutation	SNP	C	C	G			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:139741083C>G	ENST00000436881.1	+	1	2217	c.2217C>G	c.(2215-2217)atC>atG	p.I739M	PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000545326.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739										endometrium(2)|large_intestine(1)|lung(6)	9						TCTCGCGCATCGCGCGTGTCG	0.706																																						uc011meh.1		NaN																	0					0						c.(2215-2217)ATC>ATG		chromosome 9 open reading frame 172							9.0	11.0	10.0					9																	139741083		1837	4006	5843	SO:0001583	missense	389813							g.chr9:139741083C>G		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2217C>G	9.37:g.139741083C>G	ENSP00000412388:p.Ile739Met					PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	p.I739M	NM_001080482	NP_001073951	C9J069	CI172_HUMAN			1	2217	+			739						Missense_Mutation	SNP	ENST00000436881.1	37	c.2217C>G	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	14.03	2.414929	0.42817	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.11	-0.602	0.11634	.	.	.	.	.	T	0.56543	0.1992	M	0.62723	1.935	0.46849	D	0.999229	D	0.60575	0.988	P	0.59288	0.855	T	0.56890	-0.7904	8	0.62326	D	0.03	-10.0417	3.2828	0.06921	0.3686:0.4158:0.0:0.2156	.	739	C9J069	CI172_HUMAN	M	739	.	ENSP00000412388:I739M	I	+	3	3	C9orf172	138860904	0.147000	0.22687	1.000000	0.80357	0.642000	0.38348	-0.709000	0.05030	0.021000	0.15133	0.165000	0.16767	ATC		0.706	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001080482		6	11	0	0	0	0.021553	0	6	11		
NRARP	441478	broad.mit.edu	37	9	140196037	140196037	+	Silent	SNP	C	C	T	rs531591289	byFrequency	TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr9:140196037C>T	ENST00000356628.2	-	1	666	c.344G>A	c.(343-345)tGa>tAa	p.*115*		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	0					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CGGCGGGCATCACCGGCCGCT	0.731													C|||	2	0.000399361	0.0008	0.0	5008	,	,		6392	0.0		0.0	False		,,,				2504	0.001					uc004cmo.2		NaN																	0					0						c.(343-345)TGA>TAA		NOTCH-regulated ankyrin repeat protein							5.0	7.0	6.0					9																	140196037		1974	4029	6003	SO:0001819	synonymous_variant	441478				negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway			g.chr9:140196037C>T		CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"""Ankyrin repeat domain containing"""	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.344G>A	9.37:g.140196037C>T						C9orf167_uc011mew.1_Intron	p.*115*	NM_001004354	NP_001004354	Q7Z6K4	NRARP_HUMAN	STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)	1	667	-	all_cancers(76;0.0926)		115					B8A4K5	Silent	SNP	ENST00000356628.2	37	c.344G>A	CCDS35188.1																																																																																				0.731	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343196.1		NM_001004354		4	6	0	0	0	0.009096	0	4	6		
SCML2	10389	broad.mit.edu	37	X	18283889	18283889	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:18283889G>A	ENST00000251900.4	-	8	923	c.764C>T	c.(763-765)tCt>tTt	p.S255F	SCML2_ENST00000398048.3_5'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	255					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GGAAGGAGAAGACTCTGTTTT	0.363																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2		NaN																	0					0						c.(763-765)TCT>TTT		sex comb on midleg-like 2							96.0	88.0	91.0					X																	18283889		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18283889G>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.764C>T	X.37:g.18283889G>A	ENSP00000251900:p.Ser255Phe					SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.S255F|SCML2_uc011miz.1_Missense_Mutation_p.S189F|SCML2_uc010nfc.2_5'UTR	p.S255F	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			8	921	-	Hepatocellular(33;0.183)		255					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.764C>T	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204653	0.58234	.	.	ENSG00000102098	ENST00000251900;ENST00000442000	T	0.19669	2.13	5.65	5.65	0.86999	.	1.146320	0.06262	N	0.694112	T	0.35219	0.0924	L	0.55481	1.735	0.80722	D	1	P;P	0.48016	0.904;0.836	P;P	0.46510	0.519;0.519	T	0.11446	-1.0587	10	0.72032	D	0.01	.	16.9471	0.86232	0.0:0.0:1.0:0.0	.	223;255	B4DZR9;Q9UQR0	.;SCML2_HUMAN	F	255;223	ENSP00000251900:S255F	ENSP00000251900:S255F	S	-	2	0	SCML2	18193810	1.000000	0.71417	0.132000	0.22025	0.475000	0.33008	7.422000	0.80217	2.380000	0.81148	0.468000	0.43344	TCT		0.363	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1		NM_006089		24	26	0	0	0	0.069288	0	24	26		
RPGR	6103	broad.mit.edu	37	X	38147258	38147258	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:38147258C>T	ENST00000339363.3	-	14	1776	c.1609G>A	c.(1609-1611)Gct>Act	p.A537T	RPGR_ENST00000309513.3_Missense_Mutation_p.A475T|RPGR_ENST00000318842.7_Missense_Mutation_p.A537T|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.A537T|RPGR_ENST00000378505.2_Missense_Mutation_p.A537T|RPGR_ENST00000338898.3_3'UTR			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	537	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCAGTAAGAGCTGTATCCTGC	0.338																																						uc004ded.1		NaN																	0				ovary(1)	1						c.(1609-1611)GCT>ACT		retinitis pigmentosa GTPase regulator isoform C							213.0	171.0	185.0					X																	38147258		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38147258C>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1609G>A	X.37:g.38147258C>T	ENSP00000343671:p.Ala537Thr					RPGR_uc004deb.2_Missense_Mutation_p.A537T|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_Intron	p.A537T	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			14	1777	-			537			Glu-rich.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1609G>A		.	.	.	.	.	.	.	.	.	.	C	0.672	-0.801481	0.02841	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T	0.36520	2.24;3.62;3.62;1.33;1.25	4.07	-1.59	0.08453	.	0.790702	0.10976	U	0.613176	T	0.14141	0.0342	N	0.14661	0.345	0.09310	N	1	B;B	0.33637	0.296;0.42	B;B	0.30782	0.091;0.12	T	0.16928	-1.0386	10	0.22109	T	0.4	.	0.577	0.00705	0.1724:0.3002:0.177:0.3504	.	537;537	E9PE28;Q92834-2	.;.	T	537;475;537;537;537	ENSP00000343671:A537T;ENSP00000308783:A475T;ENSP00000322219:A537T;ENSP00000339531:A537T;ENSP00000367766:A537T	ENSP00000308783:A475T	A	-	1	0	RPGR	38032202	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	-0.660000	0.05317	-0.245000	0.09625	0.540000	0.68198	GCT		0.338	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_000328		23	52	0	0	0	0.069288	0	23	52		
KDM6A	7403	broad.mit.edu	37	X	44966654	44966654	+	Splice_Site	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:44966654G>A	ENST00000377967.4	+	27	3919		c.e27-1		KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCCCACAATAGGTATTGTCTT	0.368			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.e27-1		ubiquitously transcribed tetratricopeptide							104.0	90.0	95.0					X																	44966654		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44966654G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3879-1G>A	X.37:g.44966654G>A						KDM6A_uc011mkz.1_Splice_Site_p.K1345_splice|KDM6A_uc011mla.1_Splice_Site_p.K1248_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1300_splice|KDM6A_uc011mlc.1_Splice_Site_p.K997_splice|KDM6A_uc011mld.1_Splice_Site_p.K932_splice	p.K1293_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN			27	4254	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37	c.3879_splice	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136348	0.77662	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797;ENST00000431196	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7555	0.91830	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44851598	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.471000	0.97696	2.374000	0.81015	0.594000	0.82650	.		0.368	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140	Intron	22	21	0	0	0	0.069288	0	22	21		
IGBP1	3476	broad.mit.edu	37	X	69353901	69353901	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:69353901C>T	ENST00000342206.6	+	1	603	c.104C>T	c.(103-105)tCc>tTc	p.S35F	IGBP1_ENST00000356413.4_Missense_Mutation_p.S35F			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	35					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CCCGCCGGTTCCCGGATAGTC	0.562											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	uc004dxv.2		NaN																	0				kidney(1)|pancreas(1)	2						c.(103-105)TCC>TTC		immunoglobulin binding protein 1							47.0	43.0	44.0					X																	69353901		2203	4300	6503	SO:0001583	missense	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69353901C>T	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.104C>T	X.37:g.69353901C>T	ENSP00000363661:p.Ser35Phe		OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1114	IGBP1_uc004dxw.2_Missense_Mutation_p.S35F	p.S35F	NM_001551	NP_001542	P78318	IGBP1_HUMAN			1	603	+			35					Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	c.104C>T	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.337847	0.81911	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.52983	0.64;0.64	4.74	4.74	0.60224	.	0.108809	0.64402	D	0.000004	T	0.68769	0.3037	M	0.81497	2.545	0.46356	D	0.999007	D	0.71674	0.998	D	0.70227	0.968	T	0.74054	-0.3788	10	0.87932	D	0	.	14.2804	0.66208	0.0:1.0:0.0:0.0	.	35	P78318	IGBP1_HUMAN	F	35	ENSP00000363661:S35F;ENSP00000348784:S35F	ENSP00000363661:S35F	S	+	2	0	IGBP1	69270626	0.993000	0.37304	0.896000	0.35187	0.760000	0.43138	3.529000	0.53532	2.337000	0.79520	0.597000	0.82753	TCC		0.562	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1				14	39	0	0	0	0.043863	0	14	39		
MED12	9968	broad.mit.edu	37	X	70356862	70356862	+	Missense_Mutation	SNP	A	A	C			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:70356862A>C	ENST00000374080.3	+	38	5566	c.5534A>C	c.(5533-5535)aAc>aCc	p.N1845T	MED12_ENST00000333646.6_Missense_Mutation_p.N1845T|MED12_ENST00000374102.1_Missense_Mutation_p.N1845T			Q93074	MED12_HUMAN	mediator complex subunit 12	1845	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TACACCCAGAACCAGCCACTA	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(5533-5535)AAC>ACC		mediator complex subunit 12							16.0	18.0	18.0					X																	70356862		2003	4154	6157	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70356862A>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5534A>C	X.37:g.70356862A>C	ENSP00000363193:p.Asn1845Thr					MED12_uc011mpq.1_Missense_Mutation_p.N1845T|MED12_uc004dyz.2_Missense_Mutation_p.N1845T|MED12_uc004dza.2_Missense_Mutation_p.N1692T|MED12_uc010nla.2_Missense_Mutation_p.N471T	p.N1845T	NM_005120	NP_005111	Q93074	MED12_HUMAN			38	5733	+	Renal(35;0.156)		1845			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.5534A>C	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	16.49|16.49	3.138709|3.138709	0.56936|0.56936	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750|ENST00000444034	T;T;T;T;T|.	0.60040|.	0.22;0.24;0.24;0.24;1.2|.	3.78|3.78	3.78|3.78	0.43462|0.43462	Mediator complex, subunit Med12, catenin-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64472|0.64472	0.2601|0.2601	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.62365|.	0.989;0.991;0.989;0.991|.	D;D;D;D|.	0.74023|.	0.969;0.982;0.969;0.982|.	T|T	0.64118|0.64118	-0.6482|-0.6482	10|5	0.46703|.	T|.	0.11|.	-16.0047|-16.0047	12.2263|12.2263	0.54461|0.54461	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1845;1692;1845;1845|.	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074|.	.;.;.;MED12_HUMAN|.	T|P	1845;1845;1845;1845;1813;590|66	ENSP00000333125:N1845T;ENSP00000363215:N1845T;ENSP00000363193:N1845T;ENSP00000414203:N1813T;ENSP00000408388:N590T|.	ENSP00000333125:N1845T|.	N|T	+|+	2|1	0|0	MED12|MED12	70273587|70273587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	6.805000|6.805000	0.75191|0.75191	1.517000|1.517000	0.48917|0.48917	0.390000|0.390000	0.25778|0.25778	AAC|ACC		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		4	17	0	0	0	0.080935	0	4	17		
RBM41	55285	broad.mit.edu	37	X	106359927	106359927	+	Silent	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:106359927C>T	ENST00000372479.3	-	2	108	c.78G>A	c.(76-78)ctG>ctA	p.L26L	RBM41_ENST00000372487.1_Silent_p.L26L|RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000203616.8_Silent_p.L26L	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	26							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GGAGGCTTTTCAGCTGCCTCT	0.443																																						uc004emz.2		NaN																	0				ovary(1)	1						c.(76-78)CTG>CTA		RNA binding motif protein 41							142.0	111.0	121.0					X																	106359927		2203	4300	6503	SO:0001819	synonymous_variant	55285						nucleotide binding|RNA binding	g.chrX:106359927C>T	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.78G>A	X.37:g.106359927C>T						RBM41_uc004emy.1_Silent_p.L26L	p.L26L	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN			2	109	-			26					Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Silent	SNP	ENST00000372479.3	37	c.78G>A	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245014	0.22796	.	.	ENSG00000089682	ENST00000434854	.	.	.	5.73	0.792	0.18625	.	.	.	.	.	T	0.50973	0.1647	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34576	-0.9823	4	.	.	.	.	5.0902	0.14704	0.0:0.4602:0.2826:0.2572	.	.	.	.	K	24	.	.	E	-	1	0	RBM41	106246583	0.812000	0.29077	0.998000	0.56505	0.988000	0.76386	-0.170000	0.09897	-0.032000	0.13758	-0.306000	0.09157	GAA		0.443	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1		NM_018301		18	42	0	0	0	0.055883	0	18	42		
PGRMC1	10857	broad.mit.edu	37	X	118374364	118374364	+	Missense_Mutation	SNP	G	G	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:118374364G>A	ENST00000217971.7	+	2	532	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PGRMC1_ENST00000535419.1_Intron	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	141	Cytochrome b5 heme-binding.				axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)	p.D141N(1)		lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	TGAGTACGATGACCTTTCTGA	0.483																																						uc004erb.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(421-423)GAC>AAC		progesterone receptor membrane component 1							137.0	122.0	127.0					X																	118374364		2203	4300	6503	SO:0001583	missense	10857					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding	g.chrX:118374364G>A		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.421G>A	X.37:g.118374364G>A	ENSP00000217971:p.Asp141Asn					PGRMC1_uc011mts.1_Intron	p.D141N	NM_006667	NP_006658	O00264	PGRC1_HUMAN			2	537	+			141			Cytochrome b5 heme-binding.|Cytoplasmic (Potential).		B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	ENST00000217971.7	37	c.421G>A	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	28.3	4.909199	0.92107	.	.	ENSG00000101856	ENST00000217971	T	0.78246	-1.16	4.98	4.98	0.66077	Cytochrome b5 (3);	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91018	0.4855	10	0.59425	D	0.04	-0.7907	16.3327	0.83049	0.0:0.0:1.0:0.0	.	141	O00264	PGRC1_HUMAN	N	141	ENSP00000217971:D141N	ENSP00000217971:D141N	D	+	1	0	PGRMC1	118258392	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.468000	0.97676	2.054000	0.61138	0.509000	0.49947	GAC		0.483	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1		NM_006667		29	97	0	0	0	0.125774	0	29	97		
GPR101	83550	broad.mit.edu	37	X	136112888	136112888	+	Missense_Mutation	SNP	C	C	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chrX:136112888C>T	ENST00000298110.1	-	1	945	c.946G>A	c.(946-948)Ggc>Agc	p.G316S		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCCATGCTGCCGTCGCTGGCC	0.597																																						uc011mwh.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(946-948)GGC>AGC		G protein-coupled receptor 101							316.0	234.0	262.0					X																	136112888		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112888C>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.946G>A	X.37:g.136112888C>T	ENSP00000298110:p.Gly316Ser						p.G316S	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	946	-	Acute lymphoblastic leukemia(192;0.000127)		316			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.946G>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	8.288	0.816995	0.16607	.	.	ENSG00000165370	ENST00000298110	T	0.63580	-0.05	4.42	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.237984	0.21978	N	0.066353	T	0.41119	0.1145	L	0.29908	0.895	0.09310	N	1	P	0.34724	0.465	B	0.31290	0.127	T	0.29610	-1.0006	10	0.05959	T	0.93	-11.3996	9.5808	0.39486	0.0:0.8944:0.0:0.1056	.	316	Q96P66	GP101_HUMAN	S	316	ENSP00000298110:G316S	ENSP00000298110:G316S	G	-	1	0	GPR101	135940554	0.000000	0.05858	0.008000	0.14137	0.048000	0.14542	0.009000	0.13219	1.220000	0.43490	0.600000	0.82982	GGC		0.597	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1				39	283	0	0	0	0.074837	0	39	283		
ELF3	1999	broad.mit.edu	37	1	201981484	201981494	+	Frame_Shift_Del	DEL	CTGATGAGCTC	CTGATGAGCTC	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08			CTGATGAGCTC	-	CTGATGAGCTC	CTGATGAGCTC		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:201981484_201981494delCTGATGAGCTC	ENST00000359651.3	+	3	3590_3600	c.398_408delCTGATGAGCTC	c.(397-408)tctgatgagctcfs	p.SDEL133fs	ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367284.5_Frame_Shift_Del_p.SDEL133fs|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Del_p.SDEL133fs					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCCAGCTCTTCTGATGAGCTCAGTTGGATCA	0.583																																						uc001gxg.3		NaN																	0					0						c.(397-408)TCTGATGAGCTCfs		E74-like factor 3 (ets domain transcription																																				SO:0001589	frameshift_variant	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981484_201981494delCTGATGAGCTC	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.398_408delCTGATGAGCTC	1.37:g.201981484_201981494delCTGATGAGCTC	ENSP00000352673:p.Ser133fs					ELF3_uc001gxi.3_Frame_Shift_Del_p.S133fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.S133fs	p.S133fs	NM_004433	NP_004424	P78545	ELF3_HUMAN			3	3590_3600	+			133_136						Frame_Shift_Del	DEL	ENST00000359651.3	37	c.398_408delCTGATGAGCTC	CCDS1419.1																																																																																				0.583	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		66	66	NaN	NaN	NaN	NaN	NaN	66	66	---	---
SRP9	6726	broad.mit.edu	37	1	225977051	225977051	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr1:225977051delA	ENST00000304786.7	+	3	363	c.251delA	c.(250-252)gaafs	p.E84fs	SRP9_ENST00000366839.4_3'UTR|SRP9_ENST00000366838.1_3'UTR	NM_003133.5	NP_003124.1	P49458	SRP09_HUMAN	signal recognition particle 9kDa	84					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|negative regulation of translational elongation (GO:0045900)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|signal recognition particle receptor complex (GO:0005785)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|RNA binding (GO:0003723)|signal recognition particle binding (GO:0005047)			endometrium(1)|kidney(1)|skin(1)	3						GTTACCATGGAAACTGAGTGA	0.363																																						uc001hpg.2		NaN																	0					0						c.(250-252)GAAfs		signal recognition particle 9kDa isoform 2							31.0	30.0	30.0					1																	225977051		2200	4278	6478	SO:0001589	frameshift_variant	6726				negative regulation of translational elongation|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr1:225977051delA	BC015094	CCDS1546.1, CCDS44323.1	1q42.12	2010-06-03	2002-08-29		ENSG00000143742	ENSG00000143742			11304	protein-coding gene	gene with protein product		600707	"""signal recognition particle 9kD"""			7730321	Standard	NM_001130440		Approved		uc001hpg.3	P49458	OTTHUMG00000037738	ENST00000304786.7:c.251delA	1.37:g.225977051delA	ENSP00000305230:p.Glu84fs					SRP9_uc001hpf.3_RNA|SRP9_uc001hph.2_3'UTR|SRP9_uc001hpi.3_RNA	p.E84fs	NM_003133	NP_003124	P49458	SRP09_HUMAN			3	379	+			84					A8K0N0|Q6NVX0|Q8WTW0	Frame_Shift_Del	DEL	ENST00000304786.7	37	c.251delA	CCDS1546.1																																																																																				0.363	SRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092054.1		NM_003133		16	15	NaN	NaN	NaN	NaN	NaN	16	15	---	---
CALHM2	51063	broad.mit.edu	37	10	105209459	105209459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr10:105209459delC	ENST00000260743.5	-	3	763	c.240delG	c.(238-240)tggfs	p.W80fs	CALHM2_ENST00000369788.3_Frame_Shift_Del_p.W80fs|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000393235.1_Frame_Shift_Del_p.W80fs	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	80					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCACGAGGTTCCAGGTGTGGT	0.662																																						uc001kwz.2		NaN																	0				skin(1)	1						c.(238-240)TGGfs		calcium homeostasis modulator 2							56.0	62.0	60.0					10																	105209459		2203	4300	6503	SO:0001589	frameshift_variant	51063					integral to membrane		g.chr10:105209459delC	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.240delG	10.37:g.105209459delC	ENSP00000260743:p.Trp80fs					CALHM2_uc001kxa.2_Frame_Shift_Del_p.W80fs|CALHM2_uc001kxc.2_Frame_Shift_Del_p.W80fs|CALHM2_uc001kxb.2_Frame_Shift_Del_p.W80fs|CALHM2_uc001kxd.1_Frame_Shift_Del_p.W80fs	p.W80fs	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			2	626	-			80					D3DR94|O95893|Q6ZUV9	Frame_Shift_Del	DEL	ENST00000260743.5	37	c.240delG	CCDS7549.1																																																																																				0.662	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1		NM_015916		28	104	NaN	NaN	NaN	NaN	NaN	28	104	---	---
KIAA0100	9703	broad.mit.edu	37	17	26966333	26966334	+	Splice_Site	INS	-	-	T			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:26966333_26966334insT	ENST00000528896.2	-	11	1302_1303	c.1228_1229insA	c.(1228-1230)aga>aAga	p.R410fs	KIAA0100_ENST00000544884.1_Splice_Site_p.R267fs|KIAA0100_ENST00000389003.3_Splice_Site_p.R267fs	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	410						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCTT	0.436																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1228-1230)AGAfs		hypothetical protein LOC9703 precursor																																				SO:0001630	splice_region_variant	9703					extracellular region		g.chr17:26966333_26966334insT	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1229+1->A	17.37:g.26966340_26966340dupT						KIAA0100_uc002hbv.2_Frame_Shift_Ins_p.R410fs	p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN			11	1327_1328	-	Lung NSC(42;0.00431)		410					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Frame_Shift_Ins	INS	ENST00000528896.2	37	c.1228_1229insA	CCDS32595.1																																																																																				0.436	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680	Frame_Shift_Ins	97	135	NaN	NaN	NaN	NaN	NaN	97	135	---	---
CARD14	79092	broad.mit.edu	37	17	78156494	78156494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr17:78156494delC	ENST00000573882.1	+	5	790	c.254delC	c.(253-255)gccfs	p.A85fs	CARD14_ENST00000344227.2_Frame_Shift_Del_p.A85fs|CARD14_ENST00000570421.1_Frame_Shift_Del_p.A85fs|CARD14_ENST00000392434.2_5'Flank			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	85	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AAGAACGGGGCCATCGCCTTC	0.592																																						uc002jxw.1		NaN																	0				ovary(4)|skin(1)	5						c.(253-255)GCCfs		caspase recruitment domain protein 14 isoform 1							133.0	100.0	111.0					17																	78156494		2203	4300	6503	SO:0001589	frameshift_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78156494delC	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.254delC	17.37:g.78156494delC	ENSP00000458715:p.Ala85fs					CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Frame_Shift_Del_p.A85fs|CARD14_uc010wud.1_5'Flank	p.A85fs	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		3	449	+	all_neural(118;0.0952)		85			CARD.		B8QQJ3|Q9BVB5	Frame_Shift_Del	DEL	ENST00000573882.1	37	c.254delC	CCDS11768.1																																																																																				0.592	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1				19	41	NaN	NaN	NaN	NaN	NaN	19	41	---	---
MUC16	94025	broad.mit.edu	37	19	9073469	9073470	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr19:9073469_9073470insA	ENST00000397910.4	-	3	14179_14180	c.13976_13977insT	c.(13975-13977)ttcfs	p.F4659fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4661	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTACTGAGAAAATATCTGG	0.455																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(13975-13977)TTCfs		mucin 16																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073469_9073470insA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13977dupT	19.37:g.9073473_9073473dupA	ENSP00000381008:p.Phe4659fs						p.F4659fs	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	14180_14181	-			4661			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.13976_13977insT	CCDS54212.1																																																																																				0.455	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		53	116	NaN	NaN	NaN	NaN	NaN	53	116	---	---
WDR43	23160	broad.mit.edu	37	2	29117734	29117735	+	In_Frame_Ins	INS	-	-	CCT			TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr2:29117734_29117735insCCT	ENST00000407426.3	+	1	226_227	c.170_171insCCT	c.(169-174)cacctc>caCCTcctc	p.58_59insL		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	58						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CCTTCCGCGCACCTCAGTGGTA	0.678																																						uc002rmo.2		NaN																	0				ovary(1)	1						c.(169-171)CAC>CACCTC		WD repeat domain 43																																				SO:0001652	inframe_insertion	23160					nucleolus		g.chr2:29117734_29117735insCCT	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.171_173dupCCT	2.37:g.29117735_29117737dupCCT	ENSP00000384302:p.Leu58_Leu58dup						p.58_59insL	NM_015131	NP_055946	Q15061	WDR43_HUMAN			1	202_203	+	Acute lymphoblastic leukemia(172;0.155)		58_59			WD 2.		Q15395|Q92577	In_Frame_Ins	INS	ENST00000407426.3	37	c.170_171insCCT	CCDS46251.1																																																																																				0.678	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1		XM_087089		8	12	NaN	NaN	NaN	NaN	NaN	8	12	---	---
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-	rs568155311		TCGA-GD-A2C5-01A-12D-A17V-08	TCGA-GD-A2C5-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b142863-b963-4cc9-8f8f-c72503c93390	60e4591c-6ce7-4a65-8355-653f5c41cd2e	g.chr6:146755630_146755632delGAC	ENST00000282753.1	+	8	3518_3520	c.3283_3285delGAC	c.(3283-3285)gacdel	p.D1099del	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.D1099del			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCGCCCGCGGACGACGACGACG	0.65																																						uc010khw.1		NaN																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(3283-3285)GACdel		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755630_146755632delGAC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3283_3285delGAC	6.37:g.146755639_146755641delGAC	ENSP00000282753:p.Asp1099del					GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.D1099del	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3753_3755	+		Ovarian(120;0.0387)	1099			Asp/Glu-rich (acidic).|Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3283_3285delGAC	CCDS5209.1																																																																																				0.650	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1		NM_000838		7	788	NaN	NaN	NaN	NaN	NaN	7	788	---	---
