#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
AURKAIP1	54998	broad.mit.edu	37	1	1309762	1309762	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:1309762C>G	ENST00000338370.3	-	2	516	c.116G>C	c.(115-117)aGc>aCc	p.S39T	AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S39T|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S39T|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S39T			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	39					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGGCGATGTGCTGTAAAGGGG	0.706																																						uc001afb.1		NaN																	0					0						c.(115-117)AGC>ACC		aurora kinase A interacting protein 1							5.0	8.0	7.0					1																	1309762		2085	4105	6190	SO:0001583	missense	54998				negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	g.chr1:1309762C>G		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.116G>C	1.37:g.1309762C>G	ENSP00000342676:p.Ser39Thr					AURKAIP1_uc001afc.2_Missense_Mutation_p.S39T|AURKAIP1_uc001afd.2_Missense_Mutation_p.S39T|AURKAIP1_uc009vkb.1_Missense_Mutation_p.S39T	p.S39T	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	226	-	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	39					Q5TA36|Q8TBD3	Missense_Mutation	SNP	ENST00000338370.3	37	c.116G>C	CCDS25.1	.	.	.	.	.	.	.	.	.	.	c	15.14	2.746425	0.49257	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.15	3.21	0.36854	.	0.353786	0.29900	N	0.010907	T	0.42517	0.1206	L	0.58810	1.83	0.09310	N	1	B	0.20550	0.046	B	0.20577	0.03	T	0.40384	-0.9566	10	0.59425	D	0.04	-9.359	9.2423	0.37504	0.1656:0.675:0.1594:0.0	.	39	Q9NWT8	AKIP_HUMAN	T	39	ENSP00000340656:S39T;ENSP00000342676:S39T;ENSP00000319778:S39T;ENSP00000368130:S39T	ENSP00000319778:S39T	S	-	2	0	AURKAIP1	1299625	1.000000	0.71417	0.001000	0.08648	0.004000	0.04260	1.453000	0.35167	0.517000	0.28361	0.655000	0.94253	AGC		0.706	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1		NM_017900		7	9	0	0	0	0.00308	0	7	9		
PER3	8863	broad.mit.edu	37	1	7887376	7887376	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:7887376C>T	ENST00000361923.2	+	17	2538	c.2363C>T	c.(2362-2364)gCc>gTc	p.A788V	PER3_ENST00000377532.3_Missense_Mutation_p.A796V|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	788	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCACCTGCCGCCATGGTG	0.701																																						uc001aoo.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2362-2364)GCC>GTC		period 3							42.0	45.0	44.0					1																	7887376		2203	4298	6501	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887376C>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2363C>T	1.37:g.7887376C>T	ENSP00000355031:p.Ala788Val					PER3_uc009vmg.1_Missense_Mutation_p.A796V|PER3_uc009vmh.1_Missense_Mutation_p.A789V|PER3_uc001aop.2_Missense_Mutation_p.A796V|PER3_uc010nzw.1_Missense_Mutation_p.A477V	p.A788V	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	17	2538	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	788			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2363C>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137613	0.37728	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.11063	2.81;2.81	3.81	1.91	0.25777	.	1.024570	0.07849	U	0.964321	T	0.14614	0.0353	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.52577	0.954;0.844;0.903;0.954	P;B;P;P	0.47206	0.541;0.313;0.51;0.541	T	0.25433	-1.0132	10	0.40728	T	0.16	.	7.9527	0.30025	0.0:0.7946:0.0:0.2054	.	788;796;796;788	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	V	796;788	ENSP00000366755:A796V;ENSP00000355031:A788V	ENSP00000355031:A788V	A	+	2	0	PER3	7809963	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.705000	0.25675	0.949000	0.37715	0.561000	0.74099	GCC		0.701	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1		NM_016831		46	85	0	0	0	0.01441	0	46	85		
SLC45A1	50651	broad.mit.edu	37	1	8386045	8386045	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:8386045G>A	ENST00000471889.1	+	4	1043	c.658G>A	c.(658-660)Gac>Aac	p.D220N	SLC45A1_ENST00000377479.2_Missense_Mutation_p.D254N|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D220N			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	220					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTACATGATGGACGTGTGCAG	0.662																																						uc001apb.2		NaN																	0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(658-660)GAC>AAC		DNB5							83.0	78.0	80.0					1																	8386045		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8386045G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.658G>A	1.37:g.8386045G>A	ENSP00000418096:p.Asp220Asn						p.D220N	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	3	658	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	220					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.658G>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418309	0.96092	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.94330	-3.4;-3.4;-3.4	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97328	0.9126	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98202	1.0468	10	0.87932	D	0	-42.7891	17.695	0.88278	0.0:0.0:1.0:0.0	.	220	Q9Y2W3	S45A1_HUMAN	N	220;254;220	ENSP00000418096:D220N;ENSP00000366699:D254N;ENSP00000289877:D220N	ENSP00000289877:D220N	D	+	1	0	SLC45A1	8308632	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.712000	0.98738	2.407000	0.81776	0.561000	0.74099	GAC		0.662	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5				65	167	0	0	0	0.01441	0	65	167		
SLC45A1	50651	broad.mit.edu	37	1	8390858	8390858	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:8390858G>A	ENST00000471889.1	+	5	1690	c.1305G>A	c.(1303-1305)ctG>ctA	p.L435L	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.L469L|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Silent_p.L435L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	435					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGGACATTCTGAGGGTGGGCT	0.662																																						uc001apb.2		NaN																	0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(1303-1305)CTG>CTA		DNB5							43.0	48.0	46.0					1																	8390858		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390858G>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1305G>A	1.37:g.8390858G>A						SLC45A1_uc001apc.2_Silent_p.L133L	p.L435L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	1305	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	435					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1305G>A	CCDS30577.1																																																																																				0.662	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5				28	83	0	0	0	0.013726	0	28	83		
SLC45A1	50651	broad.mit.edu	37	1	8399581	8399581	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:8399581C>T	ENST00000471889.1	+	8	2188	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	SLC45A1_ENST00000377479.2_Silent_p.L635L|SLC45A1_ENST00000289877.8_Silent_p.L601L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	601					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGTTCCTCAGCGTCCGCA	0.637																																						uc001apb.2		NaN																	0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(1801-1803)CTC>CTT		DNB5							123.0	106.0	112.0					1																	8399581		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8399581C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1803C>T	1.37:g.8399581C>T						SLC45A1_uc001apc.2_Silent_p.L299L	p.L601L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	7	1803	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	601			Helical; (Potential).		Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1803C>T	CCDS30577.1																																																																																				0.637	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5				40	85	0	0	0	0.011902	0	40	85		
FBXO2	26232	broad.mit.edu	37	1	11708769	11708769	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:11708769G>A	ENST00000354287.4	-	6	1214	c.873C>T	c.(871-873)agC>agT	p.S291S	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	291	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-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)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CTACCCACACGCTGCTGTTGG	0.657																																						uc001asj.2		NaN																	0					0						c.(871-873)AGC>AGT		F-box only protein 2							35.0	37.0	36.0					1																	11708769		2203	4300	6503	SO:0001819	synonymous_variant	26232				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity	g.chr1:11708769G>A	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.873C>T	1.37:g.11708769G>A						FBXO2_uc009vna.2_Silent_p.S294S	p.S291S	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	6	1215	-	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-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)	291			FBA.		B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Silent	SNP	ENST00000354287.4	37	c.873C>T	CCDS130.1																																																																																				0.657	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1		NM_012168		40	69	0	0	0	0.01441	0	40	69		
PADI1	29943	broad.mit.edu	37	1	17552410	17552410	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:17552410G>A	ENST00000375471.4	+	5	605	c.513G>A	c.(511-513)ctG>ctA	p.L171L		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	171					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACAGCTGGCTGATGTCGCTGG	0.612																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1		NaN																	0					0						c.(511-513)CTG>CTA		peptidylarginine deiminase type I	L-Citrulline(DB00155)						115.0	116.0	116.0					1																	17552410		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17552410G>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.513G>A	1.37:g.17552410G>A							p.L171L	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	5	605	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	171					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.513G>A	CCDS178.1																																																																																				0.612	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1		NM_013358		111	223	0	0	0	0.01441	0	111	223		
ARID1A	8289	broad.mit.edu	37	1	27057835	27057835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:27057835C>T	ENST00000324856.7	+	3	1914	c.1543C>T	c.(1543-1545)Cag>Tag	p.Q515*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q515*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q132*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	515					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)		CCAGTCCTCTCAGCCTCCATA	0.632			"""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.(1543-1545)CAG>TAG		AT rich interactive domain 1A isoform a							306.0	281.0	289.0					1																	27057835		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.chr1:27057835C>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.1543C>T	1.37:g.27057835C>T	ENSP00000320485:p.Gln515*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q515*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q515*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q132*	p.Q515*	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)	3	1916	+		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)	515					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1543C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968726	0.74131	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.33	5.33	0.75918	.	0.120167	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-6.4404	19.2116	0.93757	0.0:1.0:0.0:0.0	.	.	.	.	X	515;515;132	.	ENSP00000320485:Q515X	Q	+	1	0	ARID1A	26930422	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	4.518000	0.60510	2.766000	0.95052	0.655000	0.94253	CAG		0.632	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		237	398	0	0	0	0.01441	0	237	398		
TRNAU1AP	54952	broad.mit.edu	37	1	28898397	28898397	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:28898397G>C	ENST00000373830.3	+	8	738	c.712G>C	c.(712-714)Gat>Cat	p.D238H		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	238					selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						AGAAGTTGGAGATGATGCATT	0.473																																						uc001bqi.2		NaN																	0					0						c.(712-714)GAT>CAT		tRNA selenocysteine associated protein 1							178.0	160.0	166.0					1																	28898397		2203	4300	6503	SO:0001583	missense	54952				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:28898397G>C		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.712G>C	1.37:g.28898397G>C	ENSP00000362936:p.Asp238His					TRNAU1AP_uc001bqh.2_Missense_Mutation_p.D128H|TRNAU1AP_uc010ofw.1_Missense_Mutation_p.D128H	p.D238H	NM_017846	NP_060316	Q9NX07	TSAP1_HUMAN			8	806	+			238					Q86SU7	Missense_Mutation	SNP	ENST00000373830.3	37	c.712G>C	CCDS324.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296201	0.81025	.	.	ENSG00000180098	ENST00000373830	T	0.24538	1.85	5.59	5.59	0.84812	.	0.218642	0.45606	D	0.000351	T	0.29355	0.0731	L	0.46157	1.445	0.49130	D	0.999753	P	0.44309	0.832	B	0.42882	0.401	T	0.02617	-1.1133	10	0.62326	D	0.03	.	16.301	0.82811	0.0:0.0:1.0:0.0	.	238	Q9NX07	TSAP1_HUMAN	H	238	ENSP00000362936:D238H	ENSP00000362936:D238H	D	+	1	0	TRNAU1AP	28770984	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.755000	0.74914	2.651000	0.90000	0.655000	0.94253	GAT		0.473	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1		NM_017846		40	88	0	0	0	0.01441	0	40	88		
BSDC1	55108	broad.mit.edu	37	1	32849566	32849566	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:32849566C>T	ENST00000455895.2	-	4	255	c.222G>A	c.(220-222)atG>atA	p.M74I	BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000413080.1_Missense_Mutation_p.M74I|BSDC1_ENST00000341071.7_Missense_Mutation_p.M91I|BSDC1_ENST00000446293.2_Missense_Mutation_p.M91I|BSDC1_ENST00000449308.1_Missense_Mutation_p.M74I	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	74										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCCTTTCTTCATCTTCTCTG	0.547																																						uc001bvh.3		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(220-222)ATG>ATA		BSD domain containing 1 isoform b							162.0	149.0	154.0					1																	32849566		2203	4300	6503	SO:0001583	missense	55108						protein binding	g.chr1:32849566C>T	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.222G>A	1.37:g.32849566C>T	ENSP00000412173:p.Met74Ile					BSDC1_uc010ohg.1_Missense_Mutation_p.M91I|BSDC1_uc010ohh.1_Intron|BSDC1_uc010ohi.1_Intron|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Intron|BSDC1_uc001bvi.2_Missense_Mutation_p.M91I	p.M74I	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN			4	269	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	74					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.222G>A	CCDS363.2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039614	0.35989	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000325745;ENST00000446293;ENST00000449308;ENST00000530485	.	.	.	5.12	5.12	0.69794	.	0.235838	0.49916	D	0.000137	T	0.27866	0.0686	N	0.11255	0.115	0.31898	N	0.616296	B;B;B	0.14805	0.001;0.011;0.0	B;B;B	0.14578	0.007;0.011;0.0	T	0.19063	-1.0317	9	0.25751	T	0.34	-2.8978	11.8806	0.52574	0.0:0.9184:0.0:0.0816	.	91;91;74	Q9NW68-7;Q9NW68-3;Q9NW68	.;.;BSDC1_HUMAN	I	74;74;91;74;91;74;35	.	ENSP00000317670:M74I	M	-	3	0	BSDC1	32622153	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	3.159000	0.50731	2.764000	0.94973	0.563000	0.77884	ATG		0.547	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3		NM_018045		27	95	0	0	0	0.009535	0	27	95		
AGO4	192670	broad.mit.edu	37	1	36301442	36301442	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:36301442G>A	ENST00000373210.3	+	13	1817	c.1572G>A	c.(1570-1572)gtG>gtA	p.V524V		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	524	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TAGCGGAGGTGAAACGTGTTG	0.368																																						uc001bzj.1		NaN																	0				ovary(1)	1						c.(1570-1572)GTG>GTA		eukaryotic translation initiation factor 2C, 4							55.0	54.0	54.0					1																	36301442		2203	4300	6503	SO:0001819	synonymous_variant	192670				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36301442G>A	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1572G>A	1.37:g.36301442G>A							p.V524V	NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN			13	1762	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	524			Piwi.		A7MD27	Silent	SNP	ENST00000373210.3	37	c.1572G>A	CCDS397.1																																																																																				0.368	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3		NM_017629		8	22	0	0	0	0.00308	0	8	22		
RLF	6018	broad.mit.edu	37	1	40705282	40705282	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:40705282C>G	ENST00000372771.4	+	8	4935	c.4908C>G	c.(4906-4908)atC>atG	p.I1636M		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1636					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GTGCACCCATCCAGAACACTG	0.468																																						uc001cfc.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(4906-4908)ATC>ATG		rearranged L-myc fusion							65.0	64.0	64.0					1																	40705282		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40705282C>G		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4908C>G	1.37:g.40705282C>G	ENSP00000361857:p.Ile1636Met					RLF_uc001cfd.3_Missense_Mutation_p.I1327M	p.I1636M	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	4939	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1636					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.4908C>G	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	0.868	-0.732863	0.03135	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.13657	2.57	6.17	2.05	0.26809	.	1.410800	0.04057	N	0.305734	T	0.06826	0.0174	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.0	T	0.31586	-0.9938	10	0.30854	T	0.27	1.1788	5.6736	0.17735	0.0:0.4885:0.2631:0.2484	.	1329;1636	F5H2M5;Q13129	.;RLF_HUMAN	M	1636;1329	ENSP00000361857:I1636M	ENSP00000361857:I1636M	I	+	3	3	RLF	40477869	0.126000	0.22350	0.601000	0.28877	0.549000	0.35272	0.426000	0.21363	0.481000	0.27557	0.655000	0.94253	ATC		0.468	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1		NM_012421		37	57	0	0	0	0.011902	0	37	57		
SMAP2	64744	broad.mit.edu	37	1	40875495	40875495	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:40875495C>G	ENST00000539317.1	+	4	343	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	130	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GTCTGGACATCAATGCCTTTA	0.373																																						uc001cfj.2		NaN																	0					0						c.(388-390)ATC>ATG		small ArfGAP2							120.0	116.0	117.0					1																	40875495		2203	4300	6503	SO:0001583	missense	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40875495C>G	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.150C>G	1.37:g.40875495C>G	ENSP00000442835:p.Ile50Met					SMAP2_uc010ojh.1_Missense_Mutation_p.I130M|SMAP2_uc001cfk.2_Missense_Mutation_p.I100M|SMAP2_uc010oji.1_Missense_Mutation_p.I47M	p.I130M	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		4	455	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	130			Arf-GAP.		B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	ENST00000539317.1	37	c.390C>G	CCDS55593.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105639	0.37145	.	.	ENSG00000084070	ENST00000435168;ENST00000372718;ENST00000372708;ENST00000539317	T;T;T	0.32272	2.22;2.22;1.46	5.53	4.61	0.57282	.	0.274207	0.42682	D	0.000665	T	0.41213	0.1149	L	0.60067	1.865	0.51012	D	0.999907	D;P;B	0.57571	0.98;0.904;0.409	P;P;B	0.57846	0.828;0.493;0.348	T	0.21930	-1.0231	10	0.35671	T	0.21	-26.6708	7.2635	0.26217	0.1699:0.7451:0.0:0.085	.	50;100;130	B7Z5B5;Q8WU79-2;Q8WU79	.;.;SMAP2_HUMAN	M	130;130;100;50	ENSP00000361803:I130M;ENSP00000361793:I100M;ENSP00000442835:I50M	ENSP00000361793:I100M	I	+	3	3	SMAP2	40648082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.891000	0.39738	1.313000	0.45069	0.655000	0.94253	ATC		0.373	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_022733		16	23	0	0	0	0.007413	0	16	23		
HIVEP3	59269	broad.mit.edu	37	1	42047045	42047045	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:42047045G>T	ENST00000372583.1	-	4	4309	c.3424C>A	c.(3424-3426)Cca>Aca	p.P1142T	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1142T|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1142T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1142T|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1142					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGAGACTGGTGGGGGCAGG	0.602																																						uc001cgz.3		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3424-3426)CCA>ACA		human immunodeficiency virus type I enhancer							105.0	109.0	108.0					1																	42047045		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047045G>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3424C>A	1.37:g.42047045G>T	ENSP00000361664:p.Pro1142Thr					HIVEP3_uc001cha.3_Missense_Mutation_p.P1142T|HIVEP3_uc001cgy.2_RNA	p.P1142T	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	4637	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1142					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.3424C>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	5.726	0.318340	0.10845	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06768	3.27;3.26;3.26;3.27	4.61	4.61	0.57282	.	0.000000	0.44902	D	0.000416	T	0.12135	0.0295	L	0.29908	0.895	0.09310	N	0.999993	D;D	0.60575	0.988;0.979	P;P	0.58721	0.844;0.702	T	0.09907	-1.0653	10	0.42905	T	0.14	0.3247	7.6777	0.28494	0.0885:0.1673:0.7443:0.0	.	1142;1142	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	1142	ENSP00000361665:P1142T;ENSP00000361664:P1142T;ENSP00000247584:P1142T;ENSP00000410828:P1142T	ENSP00000247584:P1142T	P	-	1	0	HIVEP3	41819632	1.000000	0.71417	0.175000	0.22980	0.023000	0.10783	3.675000	0.54605	2.392000	0.81423	0.467000	0.42956	CCA		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1		NM_024503		59	129	1	0	1.05635e-38	0.01441	1.15518e-38	59	129		
PRDX1	5052	broad.mit.edu	37	1	45977057	45977057	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:45977057C>T	ENST00000262746.1	-	6	883	c.544G>A	c.(544-546)Gat>Aat	p.D182N	PRDX1_ENST00000319248.8_Missense_Mutation_p.D182N|PRDX1_ENST00000372079.1_Missense_Mutation_p.D80N	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	182					cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					TTGATGGTATCACTGCCAGGT	0.493																																						uc001cnz.2		NaN																	0					0						c.(544-546)GAT>AAT		peroxiredoxin 1							186.0	193.0	191.0					1																	45977057		2203	4300	6503	SO:0001583	missense	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45977057C>T	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.544G>A	1.37:g.45977057C>T	ENSP00000262746:p.Asp182Asn					PRDX1_uc001coa.2_Missense_Mutation_p.D182N|PRDX1_uc001cob.2_Missense_Mutation_p.D182N|PRDX1_uc001coc.2_Missense_Mutation_p.D182N	p.D182N	NM_181697	NP_859048	Q06830	PRDX1_HUMAN			5	576	-	Acute lymphoblastic leukemia(166;0.155)		182					B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	37	c.544G>A	CCDS522.1	.	.	.	.	.	.	.	.	.	.	C	36	5.700941	0.96812	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079	T;T;T	0.32753	1.44;1.44;1.44	5.04	5.04	0.67666	Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	0.050996	0.85682	N	0.000000	T	0.50701	0.1631	M	0.87971	2.92	0.80722	D	1	P	0.43431	0.807	P	0.46585	0.521	T	0.62215	-0.6901	10	0.72032	D	0.01	-14.0508	18.4088	0.90543	0.0:1.0:0.0:0.0	.	182	Q06830	PRDX1_HUMAN	N	182;182;80	ENSP00000262746:D182N;ENSP00000361152:D182N;ENSP00000361150:D80N	ENSP00000262746:D182N	D	-	1	0	PRDX1	45749644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.783000	0.85696	2.344000	0.79699	0.462000	0.41574	GAT		0.493	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1		NM_181697		157	279	0	0	0	0.01441	0	157	279		
ACOT11	26027	broad.mit.edu	37	1	55066985	55066985	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:55066985G>A	ENST00000371316.3	+	9	1010	c.928G>A	c.(928-930)Gag>Aag	p.E310K	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.E310K	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	310	Acyl coenzyme A hydrolase 2.				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						CCAGGAGGCTGAGACCCACCG	0.642																																					Ovarian(148;1440 1861 22015 32453 51933)	uc001cxm.1		NaN																	0				central_nervous_system(1)	1						c.(928-930)GAG>AAG		thioesterase, adipose associated isoform BFIT1							92.0	86.0	88.0					1																	55066985		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55066985G>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.928G>A	1.37:g.55066985G>A	ENSP00000360366:p.Glu310Lys					ACOT11_uc001cxj.1_Missense_Mutation_p.E188K|ACOT11_uc001cxl.1_Missense_Mutation_p.E310K	p.E310K	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN			9	1010	+			310			Acyl coenzyme A hydrolase 2.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.928G>A	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523221	0.44866	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.10573	2.89;2.86	5.0	5.0	0.66597	.	0.367954	0.25692	N	0.028931	T	0.06280	0.0162	N	0.16478	0.41	0.33823	D	0.629333	B;B	0.25105	0.118;0.036	B;B	0.28305	0.088;0.053	T	0.27806	-1.0063	10	0.12766	T	0.61	-15.5959	7.751	0.28896	0.0838:0.0:0.753:0.1632	.	310;310	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	K	310	ENSP00000340260:E310K;ENSP00000360366:E310K	ENSP00000340260:E310K	E	+	1	0	ACOT11	54839573	1.000000	0.71417	0.990000	0.47175	0.917000	0.54804	5.495000	0.66912	2.312000	0.78011	0.561000	0.74099	GAG		0.642	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1		NM_015547		40	99	0	0	0	0.011902	0	40	99		
DOCK7	85440	broad.mit.edu	37	1	62993932	62993932	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:62993932C>T	ENST00000340370.5	-	30	3750	c.3733G>A	c.(3733-3735)Gat>Aat	p.D1245N	DOCK7_ENST00000251157.5_Missense_Mutation_p.D1276N	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1276					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTTCATAATCATCAGTGGCT	0.408																																						uc001daq.2		NaN																	0				ovary(2)	2						c.(3826-3828)GAT>AAT		dedicator of cytokinesis 7							121.0	102.0	108.0					1																	62993932		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62993932C>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3733G>A	1.37:g.62993932C>T	ENSP00000340742:p.Asp1245Asn					DOCK7_uc001dan.2_Missense_Mutation_p.D1137N|DOCK7_uc001dao.2_Missense_Mutation_p.D1137N|DOCK7_uc001dap.2_Missense_Mutation_p.D1245N|DOCK7_uc001dam.2_Missense_Mutation_p.D456N|DOCK7_uc010oov.1_Intron	p.D1276N	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			31	3860	-			1276					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.3826G>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152972	0.38021	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.25250	1.81;1.81	5.6	5.6	0.85130	.	0.169277	0.52532	D	0.000080	T	0.37812	0.1017	M	0.63843	1.955	0.80722	D	1	P;B;B;B;B	0.40266	0.71;0.015;0.142;0.144;0.052	P;B;B;B;B	0.46026	0.501;0.026;0.144;0.237;0.034	T	0.02933	-1.1092	10	0.25106	T	0.35	.	19.6182	0.95643	0.0:1.0:0.0:0.0	.	1276;1245;1245;1245;1276	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	N	1276;1276;1245	ENSP00000251157:D1276N;ENSP00000340742:D1245N	ENSP00000251157:D1276N	D	-	1	0	DOCK7	62766520	1.000000	0.71417	0.995000	0.50966	0.079000	0.17450	5.666000	0.68059	2.626000	0.88956	0.650000	0.86243	GAT		0.408	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1		NM_033407		14	22	0	0	0	0.001855	0	14	22		
ROR1	4919	broad.mit.edu	37	1	64643839	64643839	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:64643839G>A	ENST00000371079.1	+	9	2490	c.2115G>A	c.(2113-2115)gtG>gtA	p.V705V	ROR1_ENST00000545203.1_Silent_p.V156V	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	705	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTGAGATGGTGAGAAAACGGC	0.458																																						uc001dbj.2		NaN																	0				ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(2113-2115)GTG>GTA		receptor tyrosine kinase-like orphan receptor 1							70.0	71.0	70.0					1																	64643839		2203	4300	6503	SO:0001819	synonymous_variant	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643839G>A	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2115G>A	1.37:g.64643839G>A						uc001dbm.2_5'Flank	p.V705V	NM_005012	NP_005003	Q01973	ROR1_HUMAN			9	2514	+			705			Cytoplasmic (Potential).|Protein kinase.		Q5VVX6|Q66K77|Q92776	Silent	SNP	ENST00000371079.1	37	c.2115G>A	CCDS626.1																																																																																				0.458	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1		NM_005012		23	58	0	0	0	0.014323	0	23	58		
SYDE2	84144	broad.mit.edu	37	1	85624533	85624533	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:85624533T>A	ENST00000341460.5	-	7	3534	c.3485A>T	c.(3484-3486)gAt>gTt	p.D1162V		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1162					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GTTTTTTCGATCCACTGTAGA	0.363																																						uc009wcm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3484-3486)GAT>GTT		synapse defective 1, Rho GTPase, homolog 2							91.0	80.0	84.0					1																	85624533		1850	4091	5941	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85624533T>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3485A>T	1.37:g.85624533T>A	ENSP00000340594:p.Asp1162Val						p.D1162V	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	7	3534	-			1162					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.3485A>T	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003946	0.35320	.	.	ENSG00000097096	ENST00000341460	T	0.43294	0.95	6.17	6.17	0.99709	.	0.224065	0.47852	D	0.000208	T	0.35307	0.0927	M	0.70595	2.14	0.48632	D	0.999687	P	0.35033	0.481	B	0.38880	0.284	T	0.42515	-0.9447	10	0.87932	D	0	.	12.5976	0.56478	0.0:0.0657:0.0:0.9343	.	1162	Q5VT97	SYDE2_HUMAN	V	1162	ENSP00000340594:D1162V	ENSP00000340594:D1162V	D	-	2	0	SYDE2	85397121	1.000000	0.71417	0.514000	0.27761	0.949000	0.60115	2.512000	0.45485	2.371000	0.80710	0.533000	0.62120	GAT		0.363	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2				5	9	0	0	0	0.00308	0	5	9		
BRDT	676	broad.mit.edu	37	1	92433810	92433810	+	Silent	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:92433810C>A	ENST00000362005.3	+	5	856	c.438C>A	c.(436-438)atC>atA	p.I146I	BRDT_ENST00000394530.3_Silent_p.I100I|BRDT_ENST00000399546.2_Silent_p.I146I|BRDT_ENST00000402388.1_Silent_p.I146I|BRDT_ENST00000370389.2_Silent_p.I73I	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	146					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGGAAAGAATCAAGAAAGGTA	0.398																																						uc001dok.3		NaN																	0				stomach(2)|ovary(1)|lung(1)	4						c.(436-438)ATC>ATA		testis-specific bromodomain protein							103.0	106.0	105.0					1																	92433810		2203	4300	6503	SO:0001819	synonymous_variant	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92433810C>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.438C>A	1.37:g.92433810C>A						BRDT_uc001dol.3_Silent_p.I146I|BRDT_uc010osz.1_Silent_p.I146I|BRDT_uc009wdf.2_Silent_p.I73I|BRDT_uc010ota.1_Silent_p.I100I|BRDT_uc010otb.1_Silent_p.I100I|BRDT_uc001dom.3_Silent_p.I146I	p.I146I	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	4	787	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	146					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	c.438C>A	CCDS735.1																																																																																				0.398	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2		NM_207189		12	15	1	0	7.93312e-07	0.00245	8.18569e-07	12	15		
ABCA4	24	broad.mit.edu	37	1	94461703	94461703	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:94461703G>C	ENST00000370225.3	-	49	6864	c.6778C>G	c.(6778-6780)Ctg>Gtg	p.L2260V	ABCA4_ENST00000536513.1_Missense_Mutation_p.L530V|ABCA4_ENST00000535881.1_Missense_Mutation_p.L379V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2260					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGAGGGTGCAGAGGGAGGTCA	0.517																																						uc001dqh.2		NaN																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(6778-6780)CTG>GTG		ATP-binding cassette, sub-family A member 4							78.0	75.0	76.0					1																	94461703		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94461703G>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6778C>G	1.37:g.94461703G>C	ENSP00000359245:p.Leu2260Val						p.L2260V	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	49	6882	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2260			Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6778C>G	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399287	0.25291	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.90844	-2.74;-2.21;-2.32	5.76	-4.64	0.03349	.	2.241280	0.01538	N	0.019094	D	0.88310	0.6402	M	0.67953	2.075	0.58432	D	0.999999	D	0.58620	0.983	P	0.48425	0.577	T	0.79617	-0.1729	10	0.46703	T	0.11	.	16.3119	0.82874	0.3812:0.0:0.6188:0.0	.	2260	P78363	ABCA4_HUMAN	V	1052;2260;530;379	ENSP00000359245:L2260V;ENSP00000439707:L530V;ENSP00000443203:L379V	ENSP00000359245:L2260V	L	-	1	2	ABCA4	94234291	0.126000	0.22350	0.792000	0.32020	0.480000	0.33159	-0.254000	0.08781	-0.900000	0.03896	-0.605000	0.04089	CTG		0.517	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1		NM_000350		22	64	0	0	0	0.004656	0	22	64		
CELSR2	1952	broad.mit.edu	37	1	109793958	109793958	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:109793958C>G	ENST00000271332.3	+	1	1318	c.1257C>G	c.(1255-1257)ctC>ctG	p.L419L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	419	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCAGTACTCCGAGTCACAG	0.547																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NaN																	0				ovary(4)|lung(3)|skin(1)	8						c.(1255-1257)CTC>CTG		cadherin EGF LAG seven-pass G-type receptor 2							82.0	88.0	86.0					1																	109793958		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793958C>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1257C>G	1.37:g.109793958C>G							p.L419L	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1318	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	419			Cadherin 3.|Extracellular (Potential).		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.1257C>G	CCDS796.1																																																																																				0.547	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408		62	85	0	0	0	0.01441	0	62	85		
CELSR2	1952	broad.mit.edu	37	1	109795716	109795716	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:109795716C>T	ENST00000271332.3	+	1	3076	c.3015C>T	c.(3013-3015)agC>agT	p.S1005S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1005	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCTGGTGAGCCGGGCTACAG	0.567																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NaN																	0				ovary(4)|lung(3)|skin(1)	8						c.(3013-3015)AGC>AGT		cadherin EGF LAG seven-pass G-type receptor 2							76.0	73.0	74.0					1																	109795716		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795716C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3015C>T	1.37:g.109795716C>T							p.S1005S	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3076	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1005			Extracellular (Potential).|Cadherin 8.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.3015C>T	CCDS796.1																																																																																				0.567	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408		15	67	0	0	0	0.00499	0	15	67		
MAGI3	260425	broad.mit.edu	37	1	114226131	114226131	+	Missense_Mutation	SNP	G	G	A	rs573108619		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:114226131G>A	ENST00000307546.9	+	21	4016	c.3941G>A	c.(3940-3942)cGa>cAa	p.R1314Q	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1339					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTAAGAGTCGAAGAATAGCA	0.453																																						uc001edk.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3940-3942)CGA>CAA		membrane-associated guanylate kinase-related  3							131.0	119.0	123.0					1																	114226131		1568	3582	5150	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114226131G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3941G>A	1.37:g.114226131G>A	ENSP00000304604:p.Arg1314Gln					MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	p.R1314Q	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	4122	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1339					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.3941G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175124	0.38413	.	.	ENSG00000081026	ENST00000307546;ENST00000546156	T	0.53640	0.61	5.1	-1.55	0.08558	.	0.456846	0.18946	N	0.126813	T	0.10121	0.0248	N	0.17082	0.46	0.09310	N	0.999999	B	0.09022	0.002	B	0.06405	0.002	T	0.26121	-1.0112	10	0.44086	T	0.13	.	6.3307	0.21269	0.4393:0.1194:0.4413:0.0	.	1314	Q5TCQ9-4	.	Q	1314;354	ENSP00000304604:R1314Q	ENSP00000304604:R1314Q	R	+	2	0	MAGI3	114027654	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.410000	0.07151	-0.522000	0.06417	-0.806000	0.03193	CGA		0.453	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1		NM_152900		31	69	0	0	0	0.004878	0	31	69		
WDR3	10885	broad.mit.edu	37	1	118494605	118494605	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:118494605G>A	ENST00000349139.5	+	17	1857	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	604						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATAGGATGGAGCACTCATAGC	0.383																																						uc010oxe.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1810-1812)GCA>ACA		WD repeat-containing protein 3							113.0	124.0	120.0					1																	118494605		2203	4299	6502	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118494605G>A	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1810G>A	1.37:g.118494605G>A	ENSP00000308179:p.Ala604Thr					WDR3_uc001ehi.2_Intron	p.A604T	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	17	1876	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	604			WD 11.			Missense_Mutation	SNP	ENST00000349139.5	37	c.1810G>A	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	2.906	-0.226359	0.06022	.	.	ENSG00000065183	ENST00000349139	T	0.59224	0.28	5.95	1.71	0.24356	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.331422	0.36234	N	0.002716	T	0.09642	0.0237	N	0.02286	-0.61	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14783	-1.0460	10	0.11182	T	0.66	-4.9825	6.6405	0.22906	0.3383:0.1182:0.5435:0.0	.	604	Q9UNX4	WDR3_HUMAN	T	604	ENSP00000308179:A604T	ENSP00000308179:A604T	A	+	1	0	WDR3	118296128	0.819000	0.29175	0.967000	0.41034	0.642000	0.38348	0.316000	0.19469	0.383000	0.24910	0.563000	0.77884	GCA		0.383	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2		NM_006784		3	96	0	0	0	0.004672	0	3	96		
HSD3B2	3284	broad.mit.edu	37	1	119958115	119958115	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:119958115G>C	ENST00000543831.1	+	2	322	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.E25Q	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	25					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GTTGGTGGAAGAGAAGGAACT	0.522																																						uc001ehs.2		NaN																	0				ovary(2)	2						c.(73-75)GAG>CAG		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						112.0	108.0	109.0					1																	119958115		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119958115G>C	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.73G>C	1.37:g.119958115G>C	ENSP00000445122:p.Glu25Gln					HSD3B2_uc001eht.2_Missense_Mutation_p.E25Q|HSD3B2_uc001ehu.2_Missense_Mutation_p.E25Q	p.E25Q	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	1	846	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	25					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.73G>C	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	15.71	2.912789	0.52439	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.88046	-2.33;-2.33;-2.33	3.6	3.6	0.41247	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.140341	0.47455	U	0.000229	D	0.90253	0.6952	M	0.72479	2.2	0.49213	D	0.999766	P;D	0.89917	0.913;1.0	P;D	0.81914	0.779;0.995	D	0.89975	0.4096	9	.	.	.	-8.0428	12.9451	0.58367	0.0:0.0:1.0:0.0	.	25;25	P26439-2;P26439	.;3BHS2_HUMAN	Q	25	ENSP00000445122:E25Q;ENSP00000388292:E25Q;ENSP00000358424:E25Q	.	E	+	1	0	HSD3B2	119759638	1.000000	0.71417	0.993000	0.49108	0.290000	0.27261	5.398000	0.66308	2.028000	0.59812	0.454000	0.30748	GAG		0.522	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1		NM_000198		18	73	0	0	0	0.007413	0	18	73		
SEC22B	9554	broad.mit.edu	37	1	145109581	145109581	+	RNA	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:145109581G>A	ENST00000453618.1	+	0	570							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CCTTCCCTAAGACGTTGGCTT	0.423																																						uc001eml.1		NaN																	0					0						c.(241-243)AAG>AAA		SEC22 vesicle trafficking protein homolog B							461.0	451.0	454.0					1																	145109581		2029	4190	6219			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109581G>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109581G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.K81K	NM_004892	NP_004883	O75396	SC22B_HUMAN			5	383	+			81			Longin.|Cytoplasmic (Potential).		A8K1G0	Silent	SNP	ENST00000453618.1	37	c.243G>A																																																																																					0.423	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5		NM_004892		35	350	0	0	0	0.003271	0	35	350		
HRNR	388697	broad.mit.edu	37	1	152187575	152187575	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:152187575G>A	ENST00000368801.2	-	3	6605	c.6530C>T	c.(6529-6531)tCt>tTt	p.S2177F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2177					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGATCCAGACCCTTGTCG	0.637																																						uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(6529-6531)TCT>TTT		hornerin																																				SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187575G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6530C>T	1.37:g.152187575G>A	ENSP00000357791:p.Ser2177Phe						p.S2177F	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6606	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2177			24.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6530C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.901	0.535782	0.13188	.	.	ENSG00000197915	ENST00000368801	T	0.05925	3.37	3.22	2.26	0.28386	.	.	.	.	.	T	0.03651	0.0104	N	0.21097	0.63	0.09310	N	1	D	0.76494	0.999	D	0.65987	0.94	T	0.38714	-0.9648	9	0.33940	T	0.23	.	4.5699	0.12205	0.1295:0.2328:0.6377:0.0	.	2177	Q86YZ3	HORN_HUMAN	F	2177	ENSP00000357791:S2177F	ENSP00000357791:S2177F	S	-	2	0	HRNR	150454199	0.034000	0.19679	0.008000	0.14137	0.006000	0.05464	0.515000	0.22801	0.650000	0.30769	0.650000	0.86243	TCT		0.637	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		36	295	0	0	0	0.01441	0	36	295		
HRNR	388697	broad.mit.edu	37	1	152192129	152192129	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:152192129G>C	ENST00000368801.2	-	3	2051	c.1976C>G	c.(1975-1977)tCt>tGt	p.S659C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	659					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGACTAGGAGACTGGCCAGA	0.592																																						uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(1975-1977)TCT>TGT		hornerin							158.0	168.0	164.0					1																	152192129		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192129G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1976C>G	1.37:g.152192129G>C	ENSP00000357791:p.Ser659Cys						p.S659C	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2052	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		659			6.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1976C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	9.121	1.009109	0.19199	.	.	ENSG00000197915	ENST00000368801	T	0.05447	3.44	4.05	4.05	0.47172	.	.	.	.	.	T	0.06826	0.0174	L	0.53249	1.67	0.09310	N	1	D	0.67145	0.996	P	0.51453	0.67	T	0.08207	-1.0733	9	0.62326	D	0.03	.	13.7933	0.63155	0.0:0.0:1.0:0.0	.	659	Q86YZ3	HORN_HUMAN	C	659	ENSP00000357791:S659C	ENSP00000357791:S659C	S	-	2	0	HRNR	150458753	0.002000	0.14202	0.003000	0.11579	0.002000	0.02628	1.118000	0.31246	2.079000	0.62486	0.644000	0.83932	TCT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		8	284	0	0	0	0.00308	0	8	284		
FLAD1	80308	broad.mit.edu	37	1	154962840	154962840	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:154962840G>C	ENST00000292180.3	+	5	1712	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000368428.1_Missense_Mutation_p.E5Q|FLAD1_ENST00000315144.10_Missense_Mutation_p.E367Q|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368432.1_Missense_Mutation_p.E367Q	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	464	FAD synthase.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTTGGAAGCTGAGGGCAGCAT	0.602																																						uc001fgf.1		NaN																	0				ovary(2)|skin(1)	3						c.(1390-1392)GAG>CAG		flavin adenine dinucleotide synthetase isoform							64.0	68.0	66.0					1																	154962840		2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154962840G>C		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1390G>C	1.37:g.154962840G>C	ENSP00000292180:p.Glu464Gln					FLAD1_uc001fgd.1_3'UTR|FLAD1_uc001fge.1_Missense_Mutation_p.E367Q|FLAD1_uc001fgg.1_Missense_Mutation_p.E367Q|FLAD1_uc001fgh.1_Intron	p.E464Q	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		5	1744	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		464			FAD synthase.		Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.1390G>C	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174579	0.38413	.	.	ENSG00000160688	ENST00000315144;ENST00000368432;ENST00000292180;ENST00000368428	.	.	.	5.46	2.5	0.30297	Phosphoadenosine phosphosulphate reductase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.165528	0.52532	N	0.000069	T	0.24967	0.0606	N	0.13098	0.295	0.80722	D	1	B	0.22080	0.064	B	0.22753	0.041	T	0.02751	-1.1115	9	0.26408	T	0.33	-12.5344	18.5795	0.91166	0.0:0.6463:0.3537:0.0	.	464	Q8NFF5	FAD1_HUMAN	Q	367;367;464;5	.	ENSP00000292180:E464Q	E	+	1	0	FLAD1	153229464	1.000000	0.71417	0.553000	0.28255	0.996000	0.88848	2.612000	0.46343	0.380000	0.24823	0.655000	0.94253	GAG		0.602	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1		NM_025207		28	108	0	0	0	0.003271	0	28	108		
LMNA	4000	broad.mit.edu	37	1	156105709	156105709	+	Silent	SNP	G	G	A	rs397517914		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:156105709G>A	ENST00000368300.4	+	6	1166	c.954G>A	c.(952-954)gcG>gcA	p.A318A	LMNA_ENST00000347559.2_Silent_p.A318A|LMNA_ENST00000361308.4_Silent_p.A318A|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Silent_p.A219A|LMNA_ENST00000448611.2_Silent_p.A206A|LMNA_ENST00000392353.3_Silent_p.A237A|LMNA_ENST00000368297.1_Silent_p.A237A|LMNA_ENST00000368301.2_Silent_p.A318A|LMNA_ENST00000368299.3_Silent_p.A318A	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	318	Coil 2.|Rod.		A -> T (in CMD1A; no effect on nuclear morphology and lamin A localization). {ECO:0000269|PubMed:20160190}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CCAAGGAGGCGAAGCTTCGAG	0.657									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													uc001fni.2		NaN																	0				ovary(2)	2						c.(952-954)GCG>GCA		lamin A/C isoform 1 precursor							19.0	24.0	22.0					1																	156105709		2203	4298	6501	SO:0001819	synonymous_variant	4000	Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity	g.chr1:156105709G>A	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.954G>A	1.37:g.156105709G>A						LMNA_uc001fnf.1_Silent_p.A318A|LMNA_uc001fng.2_Silent_p.A318A|LMNA_uc001fnh.2_Silent_p.A318A|LMNA_uc009wro.1_Silent_p.A318A|LMNA_uc010pgz.1_Silent_p.A206A|LMNA_uc001fnj.2_Silent_p.A237A|LMNA_uc001fnk.2_Silent_p.A219A|LMNA_uc009wrp.2_Missense_Mutation_p.R46Q|LMNA_uc010pha.1_5'UTR	p.A318A	NM_170707	NP_733821	P02545	LMNA_HUMAN			6	1203	+	Hepatocellular(266;0.158)		318			Coil 2.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	37	c.954G>A	CCDS1129.1																																																																																				0.657	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2		NM_170707		19	41	0	0	0	0.010504	0	19	41		
HAPLN2	60484	broad.mit.edu	37	1	156593740	156593740	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:156593740G>C	ENST00000255039.1	+	4	634	c.227G>C	c.(226-228)gGg>gCg	p.G76A		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	76	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGGAGCCTGGGGAGCTCCGG	0.682																																						uc001fpn.1		NaN																	0					0						c.(226-228)GGG>GCG		brain link protein-1 precursor							14.0	16.0	15.0					1																	156593740		2202	4297	6499	SO:0001583	missense	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156593740G>C	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.227G>C	1.37:g.156593740G>C	ENSP00000255039:p.Gly76Ala					HAPLN2_uc010phq.1_Missense_Mutation_p.G76A	p.G76A	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN			4	634	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		76			Ig-like V-type.		Q5T3J0	Missense_Mutation	SNP	ENST00000255039.1	37	c.227G>C	CCDS1148.1	.	.	.	.	.	.	.	.	.	.	G	8.315	0.823009	0.16678	.	.	ENSG00000132702	ENST00000255039;ENST00000544775;ENST00000456112	T;T	0.69435	-0.4;-0.4	4.11	4.11	0.48088	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.263519	0.33346	N	0.005020	T	0.22205	0.0535	N	0.03608	-0.345	0.09310	N	1	B	0.20368	0.044	B	0.17098	0.017	T	0.07597	-1.0764	10	0.25751	T	0.34	-23.0703	11.4822	0.50333	0.0:0.1823:0.8176:0.0	.	76	Q9GZV7	HPLN2_HUMAN	A	76;49;76	ENSP00000255039:G76A;ENSP00000388835:G76A	ENSP00000255039:G76A	G	+	2	0	HAPLN2	154860364	0.911000	0.30947	0.960000	0.40013	0.783000	0.44284	2.026000	0.41069	2.294000	0.77228	0.561000	0.74099	GGG		0.682	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1		NM_021817		20	9	0	0	0	0.00278	0	20	9		
HAPLN2	60484	broad.mit.edu	37	1	156594201	156594201	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:156594201G>A	ENST00000255039.1	+	5	905	c.498G>A	c.(496-498)gcG>gcA	p.A166A	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	166	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTACGAGGCGAAGCAGGCGT	0.672																																						uc001fpn.1		NaN																	0					0						c.(496-498)GCG>GCA		brain link protein-1 precursor							23.0	22.0	22.0					1																	156594201		2201	4297	6498	SO:0001819	synonymous_variant	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156594201G>A	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.498G>A	1.37:g.156594201G>A							p.A166A	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN			5	905	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		166			Link 1.		Q5T3J0	Silent	SNP	ENST00000255039.1	37	c.498G>A	CCDS1148.1																																																																																				0.672	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1		NM_021817		13	27	0	0	0	0.004007	0	13	27		
CD1A	909	broad.mit.edu	37	1	158226040	158226040	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:158226040T>C	ENST00000289429.5	+	3	1105	c.572T>C	c.(571-573)cTt>cCt	p.L191P		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	191	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTGGGTCTTCTTGATGCAGGA	0.468																																						uc001frt.2		NaN																	0				pancreas(2)|skin(1)	3						c.(571-573)CTT>CCT		CD1A antigen precursor	Antithymocyte globulin(DB00098)						135.0	112.0	120.0					1																	158226040		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226040T>C	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.572T>C	1.37:g.158226040T>C	ENSP00000289429:p.Leu191Pro						p.L191P	NM_001763	NP_001754	P06126	CD1A_HUMAN			3	1105	+	all_hematologic(112;0.0378)		191			Extracellular (Potential).|Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.572T>C	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	t	10.15	1.270203	0.23221	.	.	ENSG00000158477	ENST00000289429	T	0.16897	2.31	4.23	0.44	0.16572	MHC class I, alpha chain, alpha1/alpha2 (1);Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.683218	0.12077	N	0.501670	T	0.13286	0.0322	M	0.87097	2.86	0.09310	N	1	P	0.43231	0.801	P	0.47981	0.563	T	0.20505	-1.0273	10	0.72032	D	0.01	-8.842	1.404	0.02276	0.1761:0.1:0.1832:0.5407	.	191	P06126	CD1A_HUMAN	P	191	ENSP00000289429:L191P	ENSP00000289429:L191P	L	+	2	0	CD1A	156492664	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.164000	0.09983	-0.089000	0.12484	-0.357000	0.07601	CTT		0.468	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2		NM_001763		37	116	0	0	0	0.01441	0	37	116		
OR10Z1	128368	broad.mit.edu	37	1	158576243	158576243	+	Missense_Mutation	SNP	C	C	G	rs140704584	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:158576243C>G	ENST00000361284.1	+	1	15	c.15C>G	c.(13-15)aaC>aaG	p.N5K		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGCAGACCAACGTAACCTCCT	0.468																																						uc010pio.1		NaN																	0				pancreas(1)|skin(1)	2						c.(13-15)AAC>AAG		olfactory receptor, family 10, subfamily Z,							114.0	115.0	114.0					1																	158576243		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576243C>G	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.15C>G	1.37:g.158576243C>G	ENSP00000354707:p.Asn5Lys						p.N5K	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	15	+	all_hematologic(112;0.0378)		5			Extracellular (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.15C>G	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	7.553	0.663161	0.14710	.	.	ENSG00000198967	ENST00000361284	T	0.02158	4.42	5.24	2.94	0.34122	.	0.000000	0.44285	D	0.000475	T	0.08088	0.0202	H	0.95224	3.64	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17018	-1.0383	10	0.87932	D	0	.	6.9292	0.24432	0.0:0.1794:0.0:0.8206	.	5	Q8NGY1	O10Z1_HUMAN	K	5	ENSP00000354707:N5K	ENSP00000354707:N5K	N	+	3	2	OR10Z1	156842867	0.000000	0.05858	0.377000	0.26055	0.011000	0.07611	-1.215000	0.02985	0.451000	0.26802	-1.068000	0.02270	AAC		0.468	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1		NM_001004478		6	66	0	0	0	0.001168	0	6	66		
NCSTN	23385	broad.mit.edu	37	1	160328025	160328025	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:160328025C>T	ENST00000294785.5	+	17	2219	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	NCSTN_ENST00000535857.1_Silent_p.F560F|NCSTN_ENST00000392212.4_Silent_p.F678F|NCSTN_ENST00000368063.1_Silent_p.F678F|NCSTN_ENST00000368065.4_Silent_p.F440F	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	698					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGTCCTTTTCATTGCTCCCC	0.557																																						uc001fvx.2		NaN																	0				ovary(1)|lung(1)	2						c.(2092-2094)TTC>TTT		nicastrin precursor							175.0	142.0	153.0					1																	160328025		2203	4300	6503	SO:0001819	synonymous_variant	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160328025C>T	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.2094C>T	1.37:g.160328025C>T						NCSTN_uc001fvy.2_Silent_p.F678F|NCSTN_uc010pjf.1_Silent_p.F560F|NCSTN_uc001fvz.2_Silent_p.F478F|NCSTN_uc010pjg.1_Silent_p.F440F	p.F698F	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		17	2218	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		698			Cytoplasmic (Potential).		Q5T207|Q5T208|Q86VV5	Silent	SNP	ENST00000294785.5	37	c.2094C>T	CCDS1203.1																																																																																				0.557	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1		NM_015331		51	601	0	0	0	0.01441	0	51	601		
NOS1AP	9722	broad.mit.edu	37	1	162337159	162337159	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:162337159G>T	ENST00000361897.5	+	10	1825	c.1423G>T	c.(1423-1425)Gag>Tag	p.E475*	NOS1AP_ENST00000530878.1_Nonsense_Mutation_p.E470*|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000493151.1_Nonsense_Mutation_p.E180*	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	475					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CGAGAGCGAGGAGCGCGACTC	0.657																																						uc001gbv.2		NaN																	0				lung(2)|upper_aerodigestive_tract(1)	3						c.(1423-1425)GAG>TAG		nitric oxide synthase 1 (neuronal) adaptor							22.0	20.0	21.0					1																	162337159		2202	4299	6501	SO:0001587	stop_gained	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162337159G>T	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1423G>T	1.37:g.162337159G>T	ENSP00000355133:p.Glu475*					NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Nonsense_Mutation_p.E470*|NOS1AP_uc009wut.1_Nonsense_Mutation_p.E180*	p.E475*	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		10	1810	+	all_hematologic(112;0.203)		475					B7ZLF5|O43564|Q3T551|Q5VU95	Nonsense_Mutation	SNP	ENST00000361897.5	37	c.1423G>T	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	54	23.124564	0.99953	.	.	ENSG00000198929	ENST00000530878;ENST00000361897;ENST00000493151	.	.	.	4.82	4.82	0.62117	.	0.253973	0.44688	D	0.000423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.8171	0.85736	0.0:0.0:1.0:0.0	.	.	.	.	X	470;475;180	.	ENSP00000355133:E475X	E	+	1	0	NOS1AP	160603783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.826000	0.92034	2.337000	0.79520	0.655000	0.94253	GAG		0.657	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2		NM_014697		7	97	1	0	0.00198382	0.001984	0.00201778	7	97		
TEDDM1	127670	broad.mit.edu	37	1	182368982	182368982	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:182368982C>T	ENST00000367565.1	-	1	769	c.639G>A	c.(637-639)ctG>ctA	p.L213L		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	213						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						AGATTCCCAACAGGAATGAGG	0.488																																						uc001gpe.2		NaN																	0				ovary(2)	2						c.(637-639)CTG>CTA		putative membrane protein HE9							87.0	79.0	82.0					1																	182368982		2203	4300	6503	SO:0001819	synonymous_variant	127670					integral to membrane		g.chr1:182368982C>T	AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"""putative membrane protein HE9"", ""transmembrane protein 45C"", ""epididymal protein 9"""						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.639G>A	1.37:g.182368982C>T							p.L213L	NM_172000	NP_741997	Q5T9Z0	TEDM1_HUMAN			1	770	-			213			Helical; (Potential).		Q8IVJ0	Silent	SNP	ENST00000367565.1	37	c.639G>A	CCDS30953.1																																																																																				0.488	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091029.1		NM_172000		18	25	0	0	0	0.007413	0	18	25		
LAMC1	3915	broad.mit.edu	37	1	183086502	183086502	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:183086502C>G	ENST00000258341.4	+	9	1869	c.1612C>G	c.(1612-1614)Ctc>Gtc	p.L538V		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	538	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGAAGCATCTCTCGAGTGGTC	0.488																																						uc001gpy.3		NaN																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(1612-1614)CTC>GTC		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						148.0	125.0	133.0					1																	183086502		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183086502C>G	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1612C>G	1.37:g.183086502C>G	ENSP00000258341:p.Leu538Val						p.L538V	NM_002293	NP_002284	P11047	LAMC1_HUMAN			9	1869	+			538			Laminin IV type A.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1612C>G	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	4.795	0.147909	0.09134	.	.	ENSG00000135862	ENST00000258341	T	0.30981	1.51	5.04	3.07	0.35406	Laminin B type IV (1);	0.465777	0.22296	N	0.061922	T	0.14141	0.0342	N	0.13235	0.315	0.30614	N	0.759142	B	0.06786	0.001	B	0.04013	0.001	T	0.27365	-1.0076	10	0.10377	T	0.69	.	6.7368	0.23413	0.0:0.6839:0.1423:0.1737	.	538	P11047	LAMC1_HUMAN	V	538	ENSP00000258341:L538V	ENSP00000258341:L538V	L	+	1	0	LAMC1	181353125	0.944000	0.32072	0.922000	0.36590	0.878000	0.50629	1.842000	0.39250	0.448000	0.26722	0.591000	0.81541	CTC		0.488	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2		NM_002293		24	15	0	0	0	0.007291	0	24	15		
CACNA1S	779	broad.mit.edu	37	1	201030503	201030503	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:201030503G>A	ENST00000362061.3	-	25	3373	c.3147C>T	c.(3145-3147)atC>atT	p.I1049I	CACNA1S_ENST00000367338.3_Silent_p.I1049I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1049	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAATGAGGATGATGTAGATGA	0.512																																						uc001gvv.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3145-3147)ATC>ATT		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						215.0	177.0	190.0					1																	201030503		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201030503G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3147C>T	1.37:g.201030503G>A							p.I1049I	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			25	3374	-			1049			III.|Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.3147C>T	CCDS1407.1																																																																																				0.512	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069		32	33	0	0	0	0.012213	0	32	33		
CTSE	1510	broad.mit.edu	37	1	206320303	206320303	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:206320303G>A	ENST00000358184.2	+	4	564	c.446G>A	c.(445-447)gGa>gAa	p.G149E	CTSE_ENST00000360218.2_Missense_Mutation_p.G149E|CTSE_ENST00000432969.2_Missense_Mutation_p.G74E|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000361052.3_Missense_Mutation_p.G149E	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	149					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGGATCATTGGAGCCGACCAA	0.493																																						uc001hdu.2		NaN																	0				ovary(1)	1						c.(445-447)GGA>GAA		cathepsin E isoform a preproprotein							94.0	93.0	93.0					1																	206320303		2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206320303G>A	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.446G>A	1.37:g.206320303G>A	ENSP00000350911:p.Gly149Glu					CTSE_uc001hdv.2_Missense_Mutation_p.G149E|CTSE_uc010prs.1_Missense_Mutation_p.G74E	p.G149E	NM_001910	NP_001901	P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		4	564	+			149					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.446G>A	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354990	0.61293	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.61392	0.11;0.11;0.35;0.21	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000016	T	0.81749	0.4888	M	0.93763	3.455	0.43480	D	0.995707	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.995;1.0	D	0.87276	0.2289	10	0.72032	D	0.01	.	15.8172	0.78612	0.0:0.0:1.0:0.0	.	74;149;149	B4DNU8;P14091-2;P14091-1	.;.;.	E	149;149;149;74	ENSP00000350911:G149E;ENSP00000354337:G149E;ENSP00000353350:G149E;ENSP00000394607:G74E	ENSP00000350911:G149E	G	+	2	0	CTSE	204486926	1.000000	0.71417	0.788000	0.31933	0.760000	0.43138	5.845000	0.69437	2.009000	0.58944	0.467000	0.42956	GGA		0.493	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1		NM_001910		30	35	0	0	0	0.013726	0	30	35		
IL24	11009	broad.mit.edu	37	1	207072706	207072706	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:207072706A>G	ENST00000294984.2	+	3	360	c.86A>G	c.(85-87)cAg>cGg	p.Q29R	IL24_ENST00000391929.3_Missense_Mutation_p.Q30R|IL24_ENST00000367093.3_Missense_Mutation_p.Q30R|IL24_ENST00000491169.1_Intron	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	29					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					TCTCAAATGCAGATGGTTGTG	0.587																																						uc001hes.1		NaN																	0					0						c.(85-87)CAG>CGG		interleukin 24 isoform 1 precursor							62.0	63.0	63.0					1																	207072706		2203	4300	6503	SO:0001583	missense	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207072706A>G	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.86A>G	1.37:g.207072706A>G	ENSP00000294984:p.Gln29Arg					IL24_uc001het.1_Intron|IL24_uc001heu.1_Missense_Mutation_p.Q30R|IL24_uc001hev.1_Intron|IL24_uc001hew.1_Missense_Mutation_p.Q30R|IL24_uc001hex.1_Intron	p.Q29R	NM_006850	NP_006841	Q13007	IL24_HUMAN			3	360	+	Breast(84;0.201)		29					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	c.86A>G	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	A	3.255	-0.152358	0.06585	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	T;T	0.19105	2.17;2.17	4.33	-0.881	0.10607	.	2.826840	0.00979	N	0.003346	T	0.10551	0.0258	N	0.12746	0.255	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.004	T	0.15178	-1.0446	10	0.12103	T	0.63	.	3.3842	0.07265	0.5428:0.0:0.2903:0.1669	.	30;30;29	Q2YHE5;Q53XZ7;Q13007	.;.;IL24_HUMAN	R	30;29;30	ENSP00000375795:Q30R;ENSP00000294984:Q29R	ENSP00000294984:Q29R	Q	+	2	0	IL24	205139329	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.353000	0.07691	-0.259000	0.09432	-0.605000	0.04089	CAG		0.587	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2		NM_006850		38	29	0	0	0	0.010771	0	38	29		
PFKFB2	5208	broad.mit.edu	37	1	207241622	207241622	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:207241622G>A	ENST00000367080.3	+	10	1079	c.955G>A	c.(955-957)Gag>Aag	p.E319K	PFKFB2_ENST00000411990.2_Missense_Mutation_p.E221K|PFKFB2_ENST00000367079.2_Missense_Mutation_p.E319K|PFKFB2_ENST00000545806.1_Missense_Mutation_p.E286K|PFKFB2_ENST00000541914.1_Missense_Mutation_p.E133K	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	319	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GGTGCCCTATGAGCAGTGGAA	0.473																																						uc001hfg.2		NaN																	0				ovary(1)	1						c.(955-957)GAG>AAG		6-phosphofructo-2-kinase/fructose-2,							89.0	84.0	86.0					1																	207241622		2203	4300	6503	SO:0001583	missense	5208				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr1:207241622G>A		CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.955G>A	1.37:g.207241622G>A	ENSP00000356047:p.Glu319Lys					PFKFB2_uc010psc.1_Missense_Mutation_p.E221K|PFKFB2_uc001hfh.2_Missense_Mutation_p.E319K|PFKFB2_uc009xcc.2_Missense_Mutation_p.E277K|PFKFB2_uc010psd.1_Missense_Mutation_p.E133K	p.E319K	NM_006212	NP_006203	O60825	F262_HUMAN			10	1064	+	Prostate(682;0.19)		319			Fructose-2,6-bisphosphatase.		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	ENST00000367080.3	37	c.955G>A	CCDS31004.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075149	0.94000	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806;ENST00000541914	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.67	4.77	0.60923	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	L	0.28649	0.875	0.80722	D	1	D;D;P;D	0.76494	0.999;0.994;0.837;0.999	D;P;B;D	0.70487	0.969;0.878;0.4;0.962	T	0.70421	-0.4876	10	0.24483	T	0.36	.	13.6914	0.62549	0.0739:0.0:0.9261:0.0	.	133;221;319;319	B4DI16;B4DY91;Q5VVQ3;O60825	.;.;.;F262_HUMAN	K	221;319;319;286;133	ENSP00000408717:E221K;ENSP00000356047:E319K;ENSP00000356046:E319K;ENSP00000439420:E286K;ENSP00000440878:E133K	ENSP00000356046:E319K	E	+	1	0	PFKFB2	205308245	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	9.787000	0.99055	1.414000	0.47017	0.650000	0.86243	GAG		0.473	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1				17	12	0	0	0	0.006122	0	17	12		
USH2A	7399	broad.mit.edu	37	1	216062088	216062088	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:216062088C>T	ENST00000307340.3	-	41	8289	c.7903G>A	c.(7903-7905)Gat>Aat	p.D2635N	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.D2635N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2635	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D2635N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTGGAGTATCAGAGAACAGC	0.498										HNSCC(13;0.011)																												uc001hku.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(7903-7905)GAT>AAT		usherin isoform B							84.0	89.0	88.0					1																	216062088		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216062088C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7903G>A	1.37:g.216062088C>T	ENSP00000305941:p.Asp2635Asn	HNSCC(13;0.011)					p.D2635N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8290	-			2635			Extracellular (Potential).|Fibronectin type-III 13.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7903G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665357	0.88251	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56776	0.44;0.44	5.3	4.36	0.52297	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.159730	0.28706	N	0.014401	T	0.63721	0.2535	L	0.56769	1.78	0.41257	D	0.986755	D	0.76494	0.999	D	0.65323	0.934	T	0.60525	-0.7246	10	0.12103	T	0.63	.	14.8673	0.70427	0.1489:0.8511:0.0:0.0	.	2635	O75445	USH2A_HUMAN	N	2635	ENSP00000305941:D2635N;ENSP00000355910:D2635N	ENSP00000305941:D2635N	D	-	1	0	USH2A	214128711	1.000000	0.71417	0.986000	0.45419	0.964000	0.63967	4.378000	0.59568	1.165000	0.42670	0.655000	0.94253	GAT		0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		15	21	0	0	0	0.00245	0	15	21		
NVL	4931	broad.mit.edu	37	1	224420909	224420909	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:224420909C>G	ENST00000281701.6	-	21	2708	c.2449G>C	c.(2449-2451)Gaa>Caa	p.E817Q	NVL_ENST00000340871.4_Missense_Mutation_p.E628Q|NVL_ENST00000391875.2_Missense_Mutation_p.E711Q|NVL_ENST00000482491.1_Missense_Mutation_p.E541Q|NVL_ENST00000361463.3_3'UTR|NVL_ENST00000469075.1_Missense_Mutation_p.E726Q	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	817						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.E817K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GTACCTTTTTCATTTCCACTC	0.383																																						uc001hok.2		NaN																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2449-2451)GAA>CAA		nuclear VCP-like isoform 1							116.0	107.0	110.0					1																	224420909		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224420909C>G	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.2449G>C	1.37:g.224420909C>G	ENSP00000281701:p.Glu817Gln					NVL_uc001hol.2_Missense_Mutation_p.E711Q|NVL_uc010pvd.1_Missense_Mutation_p.E726Q|NVL_uc010pve.1_Missense_Mutation_p.E628Q|NVL_uc010pvf.1_RNA	p.E817Q	NM_002533	NP_002524	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	21	2492	-			817					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.2449G>C	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.471|9.471	1.095629|1.095629	0.20471|0.20471	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871|ENST00000469968	D;D;D;D;D|.	0.98012|.	-4.66;-4.66;-4.66;-4.66;-4.66|.	5.69|5.69	2.37|2.37	0.29283|0.29283	.|.	1.211400|.	0.05300|.	N|.	0.522739|.	T|.	0.30947|.	0.0781|.	N|N	0.26092|0.26092	0.79|0.79	0.19945|0.19945	N|N	0.999944|0.999944	B;B;B|.	0.30511|.	0.112;0.083;0.282|.	B;B;B|.	0.23275|.	0.045;0.045;0.032|.	T|.	0.20840|.	-1.0263|.	10|.	0.26408|.	T|.	0.33|.	-1.2337|-1.2337	8.1981|8.1981	0.31409|0.31409	0.0:0.7116:0.0:0.2884|0.0:0.7116:0.0:0.2884	.|.	628;726;817|.	B4DMC4;B4DP98;O15381|.	.;.;NVL_HUMAN|.	Q|S	817;711;726;541;628|699	ENSP00000281701:E817Q;ENSP00000375747:E711Q;ENSP00000417826:E726Q;ENSP00000417213:E541Q;ENSP00000341362:E628Q|.	ENSP00000281701:E817Q|.	E|X	-|-	1|2	0|2	NVL|NVL	222487532|222487532	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.866000|0.866000	0.49608|0.49608	1.063000|1.063000	0.30567|0.30567	0.764000|0.764000	0.33197|0.33197	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.383	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2		NM_002533		18	57	0	0	0	0.008871	0	18	57		
NVL	4931	broad.mit.edu	37	1	224477270	224477270	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:224477270C>T	ENST00000281701.6	-	13	1750	c.1491G>A	c.(1489-1491)caG>caA	p.Q497Q	NVL_ENST00000340871.4_Silent_p.Q308Q|NVL_ENST00000391875.2_Silent_p.Q391Q|NVL_ENST00000482491.1_Silent_p.Q221Q|NVL_ENST00000361463.3_Silent_p.Q391Q|NVL_ENST00000469075.1_Silent_p.Q406Q	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	497						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GATTTTTCTTCTGCTGTTCCT	0.473																																						uc001hok.2		NaN																	0				skin(2)	2						c.(1489-1491)CAG>CAA		nuclear VCP-like isoform 1							109.0	95.0	100.0					1																	224477270		2203	4300	6503	SO:0001819	synonymous_variant	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224477270C>T	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1491G>A	1.37:g.224477270C>T						NVL_uc001hol.2_Silent_p.Q391Q|NVL_uc010pvd.1_Silent_p.Q406Q|NVL_uc010pve.1_Silent_p.Q308Q|NVL_uc010pvf.1_RNA	p.Q497Q	NM_002533	NP_002524	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	13	1534	-			497					B4DMC4|B4DP98|Q96EM7	Silent	SNP	ENST00000281701.6	37	c.1491G>A	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	C	3.162	-0.171964	0.06421	.	.	ENSG00000143748	ENST00000469968	.	.	.	5.61	2.55	0.30701	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18241	-1.0343	4	.	.	.	-0.6415	2.2076	0.03940	0.1533:0.5015:0.1492:0.196	.	.	.	.	K	380	.	.	E	-	1	0	NVL	222543893	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.356000	0.07661	0.831000	0.34780	0.655000	0.94253	GAA		0.473	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2		NM_002533		23	35	0	0	0	0.014323	0	23	35		
PSEN2	5664	broad.mit.edu	37	1	227071519	227071519	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:227071519G>A	ENST00000366783.3	+	5	691	c.255G>A	c.(253-255)gcG>gcA	p.A85A	PSEN2_ENST00000340188.4_Silent_p.A85A|PSEN2_ENST00000422240.2_Silent_p.A85A|PSEN2_ENST00000391872.2_Silent_p.A118A|PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000366782.1_Silent_p.A118A	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	85					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)	p.A85A(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				AATACGGAGCGAAGCACGTGA	0.582																																						uc009xeo.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)	2						c.(253-255)GCG>GCA		presenilin 2 isoform 1							130.0	113.0	119.0					1																	227071519		2203	4300	6503	SO:0001819	synonymous_variant	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227071519G>A	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.255G>A	1.37:g.227071519G>A						PSEN2_uc009xep.1_Silent_p.A85A|PSEN2_uc001hqk.2_RNA	p.A85A	NM_000447	NP_000438	P49810	PSN2_HUMAN			5	682	+		Prostate(94;0.0771)	85			Cytoplasmic (Potential).		A8K8D4|B1AP21|Q96P32	Silent	SNP	ENST00000366783.3	37	c.255G>A	CCDS1556.1																																																																																				0.582	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1		NM_000447		34	131	0	0	0	0.004878	0	34	131		
LYST	1130	broad.mit.edu	37	1	235972637	235972637	+	Missense_Mutation	SNP	G	G	A	rs115019462		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:235972637G>A	ENST00000389794.3	-	5	1655	c.1481C>T	c.(1480-1482)tCg>tTg	p.S494L	LYST_ENST00000536965.1_Missense_Mutation_p.S494L|LYST_ENST00000389793.2_Missense_Mutation_p.S494L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	494					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTACACATCGAATGATGAAG	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21748	0.0		0.0	False		,,,				2504	0.0					uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(1480-1482)TCG>TTG		lysosomal trafficking regulator							111.0	109.0	110.0					1																	235972637		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972637G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1481C>T	1.37:g.235972637G>A	ENSP00000374444:p.Ser494Leu					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S494L	p.S494L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1656	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	494					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.1481C>T	CCDS31062.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.7	4.322242	0.81580	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.65732	-0.17;-0.17;2.69	5.65	5.65	0.86999	.	0.111097	0.64402	D	0.000006	T	0.76463	0.3991	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.69375	-0.5162	10	0.15066	T	0.55	.	19.7382	0.96215	0.0:0.0:1.0:0.0	.	494;494	Q99698-3;Q99698	.;LYST_HUMAN	L	494	ENSP00000374444:S494L;ENSP00000374443:S494L;ENSP00000438315:S494L	ENSP00000374443:S494L	S	-	2	0	LYST	234039260	1.000000	0.71417	0.687000	0.30102	0.989000	0.77384	9.476000	0.97823	2.653000	0.90120	0.650000	0.86243	TCG		0.398	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				26	47	0	0	0	0.00632	0	26	47		
GPR158	57512	broad.mit.edu	37	10	25465209	25465209	+	Missense_Mutation	SNP	C	C	A	rs375860575		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:25465209C>A	ENST00000376351.3	+	1	1219	c.860C>A	c.(859-861)tCt>tAt	p.S287Y	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	287					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACTCTTTCCTCTGCCATCTAC	0.612																																						uc001isj.2		NaN																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(859-861)TCT>TAT		G protein-coupled receptor 158 precursor							29.0	34.0	32.0					10																	25465209		2202	4300	6502	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25465209C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.860C>A	10.37:g.25465209C>A	ENSP00000365529:p.Ser287Tyr					LOC100128811_uc010qde.1_5'Flank	p.S287Y	NM_020752	NP_065803	Q5T848	GP158_HUMAN			1	920	+			287			Extracellular (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.860C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361842	0.61403	.	.	ENSG00000151025	ENST00000376351	T	0.60797	0.16	5.09	5.09	0.68999	.	0.290182	0.31859	N	0.006951	T	0.49270	0.1547	N	0.24115	0.695	0.41348	D	0.987348	B	0.29136	0.234	B	0.32149	0.141	T	0.53114	-0.8484	10	0.66056	D	0.02	.	18.6774	0.91534	0.0:1.0:0.0:0.0	.	287	Q5T848	GP158_HUMAN	Y	287	ENSP00000365529:S287Y	ENSP00000365529:S287Y	S	+	2	0	GPR158	25505215	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.314000	0.78988	2.650000	0.89964	0.655000	0.94253	TCT		0.612	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2		XM_166110		28	22	1	0	1.56738e-10	0.004289	1.64344e-10	28	22		
ARMC4	55130	broad.mit.edu	37	10	28151397	28151397	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:28151397C>A	ENST00000305242.5	-	18	2857	c.2765G>T	c.(2764-2766)gGa>gTa	p.G922V	ARMC4_ENST00000537576.1_Missense_Mutation_p.G614V|ARMC4_ENST00000545014.1_Missense_Mutation_p.G447V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	922					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGGAACAACTCCATGATCTGT	0.343																																						uc009xky.2		NaN																	0				ovary(4)|skin(2)	6						c.(2764-2766)GGA>GTA		armadillo repeat containing 4							183.0	160.0	168.0					10																	28151397		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28151397C>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2765G>T	10.37:g.28151397C>A	ENSP00000306410:p.Gly922Val					ARMC4_uc010qds.1_Missense_Mutation_p.G447V|ARMC4_uc010qdt.1_Missense_Mutation_p.G614V|ARMC4_uc001itz.2_Missense_Mutation_p.G922V	p.G922V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			18	2863	-			922			ARM 8.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2765G>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659509	0.88154	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;T	0.93859	-3.3;-3.3;-0.3	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.78314	0.991;0.97	D	0.96615	0.9455	10	0.87932	D	0	-34.636	20.2789	0.98501	0.0:1.0:0.0:0.0	.	447;922	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	V	614;922;447	ENSP00000443208:G614V;ENSP00000306410:G922V;ENSP00000441076:G447V	ENSP00000306410:G922V	G	-	2	0	ARMC4	28191403	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	6.072000	0.71238	2.788000	0.95919	0.650000	0.86243	GGA		0.343	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1		NM_018076		62	61	1	0	1.91123e-38	0.01441	2.08684e-38	62	61		
MPP7	143098	broad.mit.edu	37	10	28409311	28409311	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:28409311G>C	ENST00000375732.1	-	10	958	c.699C>G	c.(697-699)atC>atG	p.I233M	MPP7_ENST00000445954.2_Missense_Mutation_p.I108M|MPP7_ENST00000540098.1_Missense_Mutation_p.I233M|MPP7_ENST00000375719.3_Missense_Mutation_p.I233M|MPP7_ENST00000337532.5_Missense_Mutation_p.I233M			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	233	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AGAGGGCTTTGATAAACATCT	0.338																																						uc001iua.1		NaN																	0				ovary(1)	1						c.(697-699)ATC>ATG		palmitoylated membrane protein 7							62.0	60.0	61.0					10																	28409311		2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28409311G>C	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.699C>G	10.37:g.28409311G>C	ENSP00000364884:p.Ile233Met					MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.I233M|MPP7_uc009xla.2_Missense_Mutation_p.I233M|MPP7_uc010qdv.1_RNA	p.I233M	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			12	1103	-			233			SH3.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.699C>G	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	8.217	0.801651	0.16397	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000445954	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.45	5.45	0.79879	Src homology-3 domain (4);Variant SH3 (1);	0.204066	0.52532	D	0.000069	T	0.58133	0.2101	N	0.01352	-0.895	0.48901	D	0.999729	B	0.09022	0.002	B	0.15052	0.012	T	0.57825	-0.7744	10	0.29301	T	0.29	.	9.4752	0.38867	0.0746:0.1444:0.781:0.0	.	233	Q5T2T1	MPP7_HUMAN	M	233;233;233;233;108	ENSP00000364884:I233M;ENSP00000337907:I233M;ENSP00000438693:I233M;ENSP00000364871:I233M;ENSP00000405397:I108M	ENSP00000337907:I233M	I	-	3	3	MPP7	28449317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.949000	0.40313	2.697000	0.92050	0.643000	0.83706	ATC		0.338	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1		NM_173496		31	36	0	0	0	0.010818	0	31	36		
WAC	51322	broad.mit.edu	37	10	28897267	28897267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:28897267C>T	ENST00000354911.4	+	8	1233	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	WAC_ENST00000375664.4_Nonsense_Mutation_p.Q313*|WAC_ENST00000375646.1_Nonsense_Mutation_p.Q210*|WAC_ENST00000428935.1_Nonsense_Mutation_p.Q313*|WAC_ENST00000347934.4_Nonsense_Mutation_p.Q255*	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	358					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCCCTTACTTCAGGACCCAAA	0.458																																						uc001iuf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1072-1074)CAG>TAG		WW domain-containing adapter with a coiled-coil							80.0	72.0	75.0					10																	28897267		2203	4300	6503	SO:0001587	stop_gained	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28897267C>T	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1072C>T	10.37:g.28897267C>T	ENSP00000346986:p.Gln358*					WAC_uc001iud.2_Nonsense_Mutation_p.Q313*|WAC_uc001iue.2_Nonsense_Mutation_p.Q48*|WAC_uc009xlb.2_Nonsense_Mutation_p.Q313*|WAC_uc001iug.2_Nonsense_Mutation_p.Q255*|WAC_uc001iuh.2_Nonsense_Mutation_p.Q313*	p.Q358*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			8	1157	+			358					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Nonsense_Mutation	SNP	ENST00000354911.4	37	c.1072C>T	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	41	8.717477	0.98927	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000424454	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.707	19.6979	0.96034	0.0:1.0:0.0:0.0	.	.	.	.	X	313;210;255;358;313;313	.	ENSP00000311106:Q255X	Q	+	1	0	WAC	28937273	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.409000	0.80053	2.728000	0.93425	0.591000	0.81541	CAG		0.458	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1		NM_100264		6	37	0	0	0	0.001984	0	6	37		
ANKRD30A	91074	broad.mit.edu	37	10	37430773	37430773	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:37430773G>A	ENST00000602533.1	+	7	879	c.780G>A	c.(778-780)acG>acA	p.T260T	ANKRD30A_ENST00000374660.1_Silent_p.T260T|ANKRD30A_ENST00000361713.1_Silent_p.T260T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	316					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						CACCTGACACGGCTGAAAGCT	0.493																																						uc001iza.1		NaN																	0				ovary(7)|breast(1)|skin(1)	9						c.(778-780)ACG>ACA		ankyrin repeat domain 30A							54.0	56.0	55.0					10																	37430773		1872	4110	5982	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430773G>A	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.780G>A	10.37:g.37430773G>A							p.T260T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	879	+			316					Q5W025	Silent	SNP	ENST00000602533.1	37	c.780G>A																																																																																					0.493	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		3	71	0	0	0	0.004672	0	3	71		
TMEM72	643236	broad.mit.edu	37	10	45430144	45430144	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:45430144G>C	ENST00000544540.1	+	4	520	c.36G>C	c.(34-36)ctG>ctC	p.L12L	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	130						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						ACTTCCTTCTGAGCAAGCGGA	0.602																																						uc001jbn.2		NaN																	0					0						c.(388-390)CTG>CTC		transmembrane protein 72							74.0	76.0	76.0					10																	45430144		1568	3582	5150	SO:0001819	synonymous_variant	643236					integral to membrane		g.chr10:45430144G>C	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.36G>C	10.37:g.45430144G>C						uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Silent_p.L12L	p.L130L	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN			5	587	+			130			Helical; (Potential).		A1L181|Q5T740	Silent	SNP	ENST00000544540.1	37	c.390G>C																																																																																					0.602	TMEM72-201	KNOWN	basic	protein_coding	protein_coding			NM_001123376		16	148	0	0	0	0.004007	0	16	148		
FRMPD2	143162	broad.mit.edu	37	10	49393605	49393605	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:49393605G>A	ENST00000374201.3	-	18	2652	c.2350C>T	c.(2350-2352)Cgt>Tgt	p.R784C	FRMPD2_ENST00000305531.3_Missense_Mutation_p.R759C|FRMPD2_ENST00000407470.4_Missense_Mutation_p.R752C	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	784	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.R784C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCAAAACCACGATGTGGGTCA	0.502																																						uc001jgi.2		NaN																	1	Substitution - Missense(1)		skin(1)	large_intestine(1)	1						c.(2350-2352)CGT>TGT		FERM and PDZ domain containing 2 isoform 3							167.0	141.0	149.0					10																	49393605		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49393605G>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2350C>T	10.37:g.49393605G>A	ENSP00000363317:p.Arg784Cys					FRMPD2_uc001jgh.2_Missense_Mutation_p.R752C|FRMPD2_uc001jgj.2_Missense_Mutation_p.R762C	p.R784C	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	18	2457	-			784			PDZ 1.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.2350C>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137170	0.56936	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.27720	1.65;1.65;1.65	5.44	4.54	0.55810	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.40040	0.1101	L	0.45581	1.43	0.09310	N	1	B;D;D	0.89917	0.022;1.0;0.998	B;P;P	0.59703	0.011;0.862;0.804	T	0.15780	-1.0425	9	0.38643	T	0.18	.	7.2374	0.26077	0.0867:0.0:0.7345:0.1788	.	759;784;752	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	C	784;759;752	ENSP00000363317:R784C;ENSP00000307079:R759C;ENSP00000384339:R752C	ENSP00000307079:R759C	R	-	1	0	FRMPD2	49063611	0.651000	0.27340	0.007000	0.13788	0.356000	0.29392	3.240000	0.51368	1.303000	0.44873	0.655000	0.94253	CGT		0.502	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3		NM_152428		19	111	0	0	0	0.00333	0	19	111		
PCDH15	65217	broad.mit.edu	37	10	55826641	55826641	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:55826641G>C	ENST00000320301.6	-	18	2490	c.2096C>G	c.(2095-2097)tCa>tGa	p.S699*	PCDH15_ENST00000373955.1_Nonsense_Mutation_p.S699*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.S677*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.S706*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.S699*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.S699*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.S310*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.S677*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.S628*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.S704*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.S662*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.S706*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.S699*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	699	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTGGCAGTTGAGGTCTTAAA	0.368										HNSCC(58;0.16)																												uc001jju.1		NaN																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2095-2097)TCA>TGA		protocadherin 15 isoform CD1-4 precursor							78.0	74.0	75.0					10																	55826641		2203	4300	6503	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55826641G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2096C>G	10.37:g.55826641G>C	ENSP00000322604:p.Ser699*	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Nonsense_Mutation_p.S704*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.S699*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.S711*|PCDH15_uc010qht.1_Nonsense_Mutation_p.S706*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.S699*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.S677*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.S699*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.S662*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.S628*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.S704*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.S699*|PCDH15_uc010qia.1_Nonsense_Mutation_p.S677*|PCDH15_uc010qib.1_Nonsense_Mutation_p.S677*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.S699*	p.S699*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			18	2491	-		Melanoma(3;0.117)|Lung SC(717;0.238)	699			Cadherin 6.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.2096C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	43	10.492314	0.99415	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9349	0.92582	0.0:0.0:1.0:0.0	.	.	.	.	X	706;704;699;699;310;706;662;699;677;677;699;699;704;628;699	.	ENSP00000322604:S699X	S	-	2	0	PCDH15	55496647	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	8.034000	0.88864	2.773000	0.95371	0.655000	0.94253	TCA		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056		6	89	0	0	0	0.001984	0	6	89		
ARID5B	84159	broad.mit.edu	37	10	63852165	63852165	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:63852165G>C	ENST00000279873.7	+	10	3353	c.2943G>C	c.(2941-2943)gtG>gtC	p.V981V	ARID5B_ENST00000309334.5_Silent_p.V738V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	981					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CTCACCATGTGAGACTGGAGA	0.537																																						uc001jlt.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(2941-2943)GTG>GTC		AT rich interactive domain 5B (MRF1-like)							70.0	76.0	74.0					10																	63852165		2203	4300	6503	SO:0001819	synonymous_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852165G>C	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2943G>C	10.37:g.63852165G>C							p.V981V	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			10	2969	+	Prostate(12;0.016)|all_hematologic(501;0.215)		981					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	c.2943G>C	CCDS31208.1																																																																																				0.537	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1		XM_084482		32	131	0	0	0	0.013726	0	32	131		
STOX1	219736	broad.mit.edu	37	10	70645249	70645249	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:70645249T>C	ENST00000298596.6	+	3	1780	c.1697T>C	c.(1696-1698)aTa>aCa	p.I566T	STOX1_ENST00000399169.4_Missense_Mutation_p.I566T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.I456T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	566						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TCCATTTACATAAATGACCCT	0.418																																						uc001jos.2		NaN																	0				kidney(1)|skin(1)	2						c.(1696-1698)ATA>ACA		storkhead box 1 isoform a							98.0	88.0	91.0					10																	70645249		1880	4095	5975	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645249T>C	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1697T>C	10.37:g.70645249T>C	ENSP00000298596:p.Ile566Thr					STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.I456T	p.I566T	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN			3	1784	+			566					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.1697T>C	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	T	0.066	-1.212721	0.01555	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.73575	-0.76;-0.76;-0.44	5.76	4.64	0.57946	.	1.470720	0.03972	N	0.291873	T	0.60945	0.2308	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.49293	-0.8955	10	0.37606	T	0.19	.	2.9011	0.05706	0.0:0.1565:0.2731:0.5704	.	566	Q6ZVD7	STOX1_HUMAN	T	566;566;456	ENSP00000382121:I566T;ENSP00000298596:I566T;ENSP00000394509:I456T	ENSP00000298596:I566T	I	+	2	0	STOX1	70315255	0.000000	0.05858	0.061000	0.19648	0.006000	0.05464	-0.306000	0.08178	2.204000	0.70986	0.482000	0.46254	ATA		0.418	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3		NM_152709		14	62	0	0	0	0.003163	0	14	62		
KIAA1279	26128	broad.mit.edu	37	10	70748916	70748916	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:70748916G>A	ENST00000361983.4	+	1	430	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	110					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CGACACGGAGGAGCTGTCGGC	0.682																																						uc001joy.2		NaN																	0				ovary(1)	1						c.(328-330)GAG>AAG		KIF1 binding protein							22.0	24.0	24.0					10																	70748916		2203	4298	6501	SO:0001583	missense	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70748916G>A	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.328G>A	10.37:g.70748916G>A	ENSP00000354848:p.Glu110Lys						p.E110K	NM_015634	NP_056449	Q96EK5	KBP_HUMAN			1	424	+			110					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	c.328G>A	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	G	37	6.350137	0.97494	.	.	ENSG00000198954	ENST00000361983	T	0.59772	0.24	5.75	5.75	0.90469	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.76542	-0.2921	10	0.56958	D	0.05	-13.3852	19.9375	0.97146	0.0:0.0:1.0:0.0	.	110	Q96EK5	KBP_HUMAN	K	110	ENSP00000354848:E110K	ENSP00000354848:E110K	E	+	1	0	KIAA1279	70418922	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.372000	0.97165	2.717000	0.92951	0.650000	0.86243	GAG		0.682	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1		NM_015634		31	35	0	0	0	0.00623	0	31	35		
PALD1	27143	broad.mit.edu	37	10	72300935	72300935	+	Silent	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:72300935C>A	ENST00000263563.6	+	16	2254	c.1986C>A	c.(1984-1986)ctC>ctA	p.L662L		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	662						cytosol (GO:0005829)											TCAGCTGCCTCAGCGGCCAGG	0.607																																						uc001jrd.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1984-1986)CTC>CTA		KIAA1274							59.0	64.0	62.0					10																	72300935		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72300935C>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1986C>A	10.37:g.72300935C>A						KIAA1274_uc001jre.3_5'UTR	p.L662L	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			16	2267	+			662					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.1986C>A	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	c	9.545	1.114487	0.20795	.	.	ENSG00000107719	ENST00000426268	.	.	.	3.52	2.55	0.30701	.	.	.	.	.	T	0.56307	0.1976	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52961	-0.8505	4	.	.	.	-11.8628	7.8159	0.29258	0.0:0.7118:0.1825:0.1058	.	.	.	.	K	43	.	.	Q	+	1	0	KIAA1274	71970941	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.716000	0.37981	1.812000	0.52913	0.435000	0.28638	CAG		0.607	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2		NM_014431		62	67	1	0	1.80625e-27	0.01441	1.96021e-27	62	67		
PSAP	5660	broad.mit.edu	37	10	73581638	73581638	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:73581638T>C	ENST00000394936.3	-	8	1051	c.904A>G	c.(904-906)Att>Gtt	p.I302V	PSAP_ENST00000394934.1_Missense_Mutation_p.I304V			P07602	SAP_HUMAN	prosaposin	302					blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GGTACCTTAATGGGCTCCACC	0.527																																						uc001jsm.2		NaN																	0				ovary(1)	1						c.(904-906)ATT>GTT		prosaposin isoform a preproprotein							97.0	88.0	91.0					10																	73581638		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73581638T>C	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.904A>G	10.37:g.73581638T>C	ENSP00000378394:p.Ile302Val					PSAP_uc001jsl.2_Missense_Mutation_p.I26V	p.I302V	NM_002778	NP_002769	P07602	SAP_HUMAN			8	1008	-			302					P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.904A>G	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	T	6.120	0.390466	0.11581	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	D;D	0.89810	-2.57;-2.57	5.42	-7.43	0.01383	.	0.747405	0.13449	N	0.387030	T	0.76870	0.4048	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.62742	-0.6790	10	0.13470	T	0.59	-11.1109	4.7091	0.12863	0.1008:0.4554:0.2389:0.2049	.	302	P07602	SAP_HUMAN	V	302;302;305;304;308;228	ENSP00000378394:I302V;ENSP00000378392:I304V	ENSP00000350063:I305V	I	-	1	0	PSAP	73251644	0.084000	0.21492	0.005000	0.12908	0.950000	0.60333	-0.525000	0.06214	-1.320000	0.02283	-0.256000	0.11100	ATT		0.527	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1		NM_002778		26	58	0	0	0	0.013726	0	26	58		
GHITM	27069	broad.mit.edu	37	10	85903844	85903844	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:85903844G>A	ENST00000372134.3	+	4	516	c.323G>A	c.(322-324)gGa>gAa	p.G108E		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	108					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						AATGAGATTGGAGCTATTGAA	0.398																																						uc001kcs.1		NaN																	0					0						c.(322-324)GGA>GAA		growth hormone inducible transmembrane protein							223.0	223.0	223.0					10																	85903844		1967	4145	6112	SO:0001583	missense	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85903844G>A	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.323G>A	10.37:g.85903844G>A	ENSP00000361207:p.Gly108Glu					GHITM_uc010qma.1_Missense_Mutation_p.E64K|GHITM_uc010qmb.1_Missense_Mutation_p.G38E	p.G108E	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN			4	527	+			108			Mitochondrial intermembrane (Potential).		A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	c.323G>A	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735196	0.89482	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406	.	.	.	6.16	5.26	0.73747	.	0.138784	0.64402	D	0.000004	T	0.79233	0.4411	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.81441	-0.0931	9	0.49607	T	0.09	-15.1935	14.5111	0.67787	0.0709:0.0:0.9291:0.0	.	108	Q9H3K2	GHITM_HUMAN	E	108;95;108	.	ENSP00000361207:G108E	G	+	2	0	GHITM	85893824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.306000	0.96204	1.623000	0.50342	0.650000	0.86243	GGA		0.398	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1		NM_014394		55	40	0	0	0	0.01441	0	55	40		
PIK3AP1	118788	broad.mit.edu	37	10	98408463	98408463	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:98408463C>G	ENST00000339364.5	-	7	1257	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E202Q|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	380					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCGTGTTTCTCAGCGATGGTG	0.572																																						uc001kmq.2		NaN																	0				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(1138-1140)GAG>CAG		phosphoinositide-3-kinase adaptor protein 1							111.0	85.0	94.0					10																	98408463		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98408463C>G	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1138G>C	10.37:g.98408463C>G	ENSP00000339826:p.Glu380Gln					PIK3AP1_uc001kmp.2_Missense_Mutation_p.E202Q	p.E380Q	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	7	1266	-		Colorectal(252;0.0442)	380					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1138G>C	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282413	0.95489	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.53423	0.62;0.63	5.79	5.79	0.91817	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71550	0.3353	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73550	-0.3947	10	0.72032	D	0.01	-27.9662	19.0248	0.92929	0.0:1.0:0.0:0.0	.	380	Q6ZUJ8	BCAP_HUMAN	Q	380;202	ENSP00000339826:E380Q;ENSP00000360151:E202Q	ENSP00000339826:E380Q	E	-	1	0	PIK3AP1	98398453	1.000000	0.71417	0.959000	0.39883	0.979000	0.70002	7.752000	0.85141	2.736000	0.93811	0.561000	0.74099	GAG		0.572	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2		NM_152309		25	23	0	0	0	0.008361	0	25	23		
RRP12	23223	broad.mit.edu	37	10	99160214	99160214	+	Missense_Mutation	SNP	C	C	T	rs367633522		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:99160214C>T	ENST00000370992.4	-	2	328	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RRP12_ENST00000414986.1_Missense_Mutation_p.E73K|RRP12_ENST00000315563.6_Missense_Mutation_p.E73K|RP11-452K12.7_ENST00000422848.1_RNA	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	73						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E73K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCGGGGCTTCGCTTTTGCCC	0.562																																						uc001knf.2		NaN																	1	Substitution - Missense(1)		cervix(1)	ovary(2)|central_nervous_system(1)	3						c.(217-219)GAA>AAA		ribosomal RNA processing 12 homolog isoform 1		C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	95.0	91.0	92.0		217,217	2.8	0.1	10		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RRP12	NM_001145114.1,NM_015179.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	73/1237,73/1298	99160214	1,13005	2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99160214C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.217G>A	10.37:g.99160214C>T	ENSP00000360031:p.Glu73Lys					RRP12_uc010qou.1_Missense_Mutation_p.E73K|RRP12_uc009xvn.2_Missense_Mutation_p.E73K	p.E73K	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	2	356	-		Colorectal(252;0.162)	73					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.217G>A	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868698	0.32977	0.0	1.16E-4	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986	T;T;T	0.30981	1.54;1.51;1.52	5.7	2.76	0.32466	.	0.620996	0.17041	N	0.189319	T	0.20495	0.0493	L	0.40543	1.245	0.52501	D	0.999955	B;B;B	0.29909	0.001;0.001;0.261	B;B;B	0.18263	0.0;0.001;0.021	T	0.04140	-1.0974	10	0.33940	T	0.23	-0.1604	7.1766	0.25749	0.0:0.5848:0.2673:0.1479	.	73;73;73	E9PCK7;Q5JTH9-2;Q5JTH9	.;.;RRP12_HUMAN	K	73	ENSP00000360031:E73K;ENSP00000324315:E73K;ENSP00000414863:E73K	ENSP00000324315:E73K	E	-	1	0	RRP12	99150204	0.563000	0.26594	0.093000	0.20910	0.104000	0.19210	2.370000	0.44240	0.308000	0.22923	0.462000	0.41574	GAA		0.562	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4		NM_015179		50	49	0	0	0	0.01441	0	50	49		
GSTO1	9446	broad.mit.edu	37	10	106022765	106022765	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:106022765G>A	ENST00000369713.5	+	4	589	c.395G>A	c.(394-396)aGa>aAa	p.R132K	GSTO1_ENST00000539281.1_Missense_Mutation_p.R104K|GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Intron	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	132	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	AGCTTTATTAGAAGCCAAAAT	0.368																																						uc001kya.2		NaN																	0					0						c.(394-396)AGA>AAA		glutathione-S-transferase omega 1	Glutathione(DB00143)						85.0	82.0	83.0					10																	106022765		2203	4300	6503	SO:0001583	missense	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106022765G>A	AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.395G>A	10.37:g.106022765G>A	ENSP00000358727:p.Arg132Lys						p.R132K	NM_004832	NP_004823	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	4	404	+		Colorectal(252;0.102)|Breast(234;0.122)	132			GST C-terminal.		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	ENST00000369713.5	37	c.395G>A	CCDS7555.1	.	.	.	.	.	.	.	.	.	.	G	4.359	0.066120	0.08388	.	.	ENSG00000148834	ENST00000539281;ENST00000369713;ENST00000445155	T;T;T	0.13538	2.58;2.58;2.58	4.83	2.84	0.33178	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.676437	0.15504	N	0.258893	T	0.10637	0.0260	L	0.38175	1.15	0.09310	N	1	B	0.19706	0.038	B	0.21917	0.037	T	0.22800	-1.0206	10	0.28530	T	0.3	-8.1428	8.0941	0.30818	0.0904:0.1604:0.7492:0.0	.	132	P78417	GSTO1_HUMAN	K	104;132;104	ENSP00000441488:R104K;ENSP00000358727:R132K;ENSP00000406708:R104K	ENSP00000358727:R132K	R	+	2	0	GSTO1	106012755	0.001000	0.12720	0.013000	0.15412	0.043000	0.13939	0.491000	0.22419	1.394000	0.46624	0.655000	0.94253	AGA		0.368	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1		NM_004832		11	13	0	0	0	0.001855	0	11	13		
GPAM	57678	broad.mit.edu	37	10	113928632	113928632	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:113928632G>C	ENST00000348367.4	-	10	1070	c.873C>G	c.(871-873)ctC>ctG	p.L291L	GPAM_ENST00000423155.1_Silent_p.L291L|GPAM_ENST00000369425.1_Silent_p.L291L			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	291					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AAGCTCTATAGAGAACATCTT	0.408																																					Ovarian(161;1017 2606 18293 52943)	uc009xxy.1		NaN																	0				ovary(1)|skin(1)	2						c.(871-873)CTC>CTG		mitochondrial glycerol 3-phosphate							134.0	125.0	128.0					10																	113928632		2203	4300	6503	SO:0001819	synonymous_variant	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113928632G>C	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.873C>G	10.37:g.113928632G>C						GPAM_uc001kzp.2_Silent_p.L291L|GPAM_uc001kzq.1_Silent_p.L291L	p.L291L	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	10	1071	-			291					Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	c.873C>G	CCDS7570.1																																																																																				0.408	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1		NM_020918		31	30	0	0	0	0.006999	0	31	30		
GPAM	57678	broad.mit.edu	37	10	113928680	113928680	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:113928680G>A	ENST00000348367.4	-	10	1022	c.825C>T	c.(823-825)ttC>ttT	p.F275F	GPAM_ENST00000423155.1_Silent_p.F275F|GPAM_ENST00000369425.1_Silent_p.F275F			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	275					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.F275F(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TTCGTCGTATGAAGAAGCCCC	0.373																																					Ovarian(161;1017 2606 18293 52943)	uc009xxy.1		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(823-825)TTC>TTT		mitochondrial glycerol 3-phosphate							113.0	109.0	111.0					10																	113928680		2203	4300	6503	SO:0001819	synonymous_variant	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113928680G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.825C>T	10.37:g.113928680G>A						GPAM_uc001kzp.2_Silent_p.F275F|GPAM_uc001kzq.1_Silent_p.F275F	p.F275F	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	10	1023	-			275					Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	c.825C>T	CCDS7570.1																																																																																				0.373	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1		NM_020918		27	34	0	0	0	0.004289	0	27	34		
FAM160B1	57700	broad.mit.edu	37	10	116621198	116621198	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:116621198G>A	ENST00000369248.4	+	17	2532	c.2197G>A	c.(2197-2199)Gac>Aac	p.D733N	FAM160B1_ENST00000369250.3_Intron	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	733										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TACCAGTATTGACCACATCAC	0.368																																						uc001lcb.2		NaN																	0				lung(1)	1						c.(2197-2199)GAC>AAC		hypothetical protein LOC57700 isoform a							122.0	114.0	117.0					10																	116621198		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116621198G>A	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.2197G>A	10.37:g.116621198G>A	ENSP00000358251:p.Asp733Asn					FAM160B1_uc001lcc.2_Intron	p.D733N	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			17	2532	+			733					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.2197G>A	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788630	0.70337	.	.	ENSG00000151553	ENST00000369248	T	0.51817	0.69	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	L	0.49350	1.555	0.80722	D	1	D	0.54207	0.965	P	0.49361	0.608	T	0.52653	-0.8547	10	0.45353	T	0.12	-20.5274	19.7142	0.96108	0.0:0.0:1.0:0.0	.	733	Q5W0V3	F16B1_HUMAN	N	733	ENSP00000358251:D733N	ENSP00000358251:D733N	D	+	1	0	FAM160B1	116611188	1.000000	0.71417	0.981000	0.43875	0.891000	0.51852	9.827000	0.99397	2.738000	0.93877	0.591000	0.81541	GAC		0.368	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1		XM_049351		24	23	0	0	0	0.004656	0	24	23		
TRUB1	142940	broad.mit.edu	37	10	116734976	116734976	+	Silent	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:116734976A>T	ENST00000298746.3	+	8	949	c.888A>T	c.(886-888)acA>acT	p.T296T		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	296					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ACAAATGGACAATTGATGACA	0.433																																						uc001lcd.2		NaN																	0					0						c.(886-888)ACA>ACT		TruB pseudouridine (psi) synthase homolog 1							173.0	156.0	161.0					10																	116734976		2203	4300	6503	SO:0001819	synonymous_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116734976A>T	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.888A>T	10.37:g.116734976A>T						TRUB1_uc010qsl.1_Silent_p.T198T	p.T296T	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	8	949	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	296					B2R716|Q53ES2	Silent	SNP	ENST00000298746.3	37	c.888A>T	CCDS7591.1																																																																																				0.433	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1		NM_139169		69	69	0	0	0	0.01441	0	69	69		
FAM45A	404636	broad.mit.edu	37	10	120892117	120892117	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:120892117T>C	ENST00000361432.2	+	8	919	c.893T>C	c.(892-894)aTa>aCa	p.I298T	FAM45A_ENST00000535029.1_3'UTR|FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Missense_Mutation_p.I147T	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	298										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AGCCACGTTATACAGGTAACT	0.522																																						uc001ldw.2		NaN																	0				ovary(1)	1						c.(892-894)ATA>ACA		hypothetical protein LOC404636							147.0	143.0	145.0					10																	120892117		2203	4300	6503	SO:0001583	missense	404636							g.chr10:120892117T>C	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.893T>C	10.37:g.120892117T>C	ENSP00000354688:p.Ile298Thr					FAM45A_uc010qsv.1_Missense_Mutation_p.I290T|FAM45A_uc010qsw.1_Missense_Mutation_p.I147T|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Missense_Mutation_p.I225T|FAM45A_uc010qsz.1_Missense_Mutation_p.I187T	p.I298T	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	8	937	+		Lung NSC(174;0.094)|all_lung(145;0.123)	298					B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	c.893T>C	CCDS7609.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.542350	0.65198	.	.	ENSG00000119979	ENST00000361432;ENST00000544016	.	.	.	5.65	5.65	0.86999	.	0.045500	0.85682	D	0.000000	T	0.67924	0.2945	M	0.68952	2.095	0.58432	D	0.999998	D;D;D;D	0.61080	0.979;0.989;0.988;0.989	P;P;P;P	0.54140	0.558;0.672;0.743;0.581	T	0.72500	-0.4274	9	0.87932	D	0	.	14.4619	0.67456	0.0:0.0:0.0:1.0	.	225;147;290;298	B4DNL9;B4DMU4;Q8TCE6-2;Q8TCE6	.;.;.;FA45A_HUMAN	T	298;147	.	ENSP00000354688:I298T	I	+	2	0	FAM45A	120882107	1.000000	0.71417	0.856000	0.33681	0.807000	0.45602	7.280000	0.78610	2.146000	0.66826	0.533000	0.62120	ATA		0.522	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1		NM_207009		113	54	0	0	0	0.01441	0	113	54		
ATE1	11101	broad.mit.edu	37	10	123658448	123658448	+	Intron	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:123658448A>G	ENST00000224652.6	-	7	1028				ATE1_ENST00000535655.1_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.F277L|ATE1_ENST00000369043.3_Missense_Mutation_p.F284L|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.F188L	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GACGACTTGAACTCTGGGTCC	0.438																																						uc001lfp.2		NaN																	0					0						c.(850-852)TTC>CTC		arginyltransferase 1 isoform 2							171.0	141.0	151.0					10																	123658448		2203	4300	6503	SO:0001627	intron_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123658448A>G	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.942+932T>C	10.37:g.123658448A>G						ATE1_uc001lfq.2_Intron|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_Missense_Mutation_p.F188L|ATE1_uc010qtt.1_Missense_Mutation_p.F277L|ATE1_uc001lfr.2_Intron|ATE1_uc009xzu.2_Intron	p.F284L	NM_007041	NP_008972	O95260	ATE1_HUMAN			7	932	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	284					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.850T>C	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	A	31	5.066675	0.93898	.	.	ENSG00000107669	ENST00000369043;ENST00000369040;ENST00000540606	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79627	0.4478	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	D;D;D	0.78314	0.979;0.991;0.987	T	0.82281	-0.0535	9	0.72032	D	0.01	-11.8598	15.8843	0.79232	1.0:0.0:0.0:0.0	.	277;188;284	F5GXE4;B4E107;O95260-2	.;.;.	L	284;188;277	.	ENSP00000358036:F188L	F	-	1	0	ATE1	123648438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.923000	0.92808	2.164000	0.68074	0.533000	0.62120	TTC		0.438	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_001001976		44	27	0	0	0	0.01441	0	44	27		
TACC2	10579	broad.mit.edu	37	10	123844550	123844550	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:123844550C>G	ENST00000369005.1	+	4	2875	c.2535C>G	c.(2533-2535)ctC>ctG	p.L845L	TACC2_ENST00000515603.1_Silent_p.L845L|TACC2_ENST00000453444.2_Silent_p.L845L|TACC2_ENST00000515273.1_Silent_p.L845L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.L845L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	845					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TTGACGTGCTCAAGGAGCAGG	0.527																																						uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2533-2535)CTC>CTG		transforming, acidic coiled-coil containing							135.0	136.0	136.0					10																	123844550		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844550C>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2535C>G	10.37:g.123844550C>G						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.L845L|TACC2_uc010qtv.1_Silent_p.L845L	p.L845L	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	2895	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	845					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.2535C>G	CCDS7626.1																																																																																				0.527	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				103	66	0	0	0	0.01441	0	103	66		
PPP2R2D	55844	broad.mit.edu	37	10	133757494	133757494	+	5'UTR	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:133757494A>G	ENST00000422256.2	+	0	304				PPP2R2D_ENST00000470416.1_Intron			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		AAGCCCATGGATCTTATGGTA	0.343																																						uc001lks.2		NaN																	0				skin(1)	1						c.(400-402)GAT>GGT		protein phosphatase 2, regulatory subunit B,							123.0	103.0	109.0					10																	133757494		1861	4091	5952	SO:0001623	5_prime_UTR_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133757494A>G	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.-182A>G	10.37:g.133757494A>G						PPP2R2D_uc001lkr.2_Intron|PPP2R2D_uc001lkt.2_Intron|PPP2R2D_uc009yay.2_Missense_Mutation_p.D2G	p.D134G	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	4	644	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	167					A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	ENST00000422256.2	37	c.401A>G		.	.	.	.	.	.	.	.	.	.	A	15.42	2.829668	0.50845	.	.	ENSG00000175470	ENST00000455566	T	0.35048	1.33	3.89	3.89	0.44902	WD40 repeat-like-containing domain (1);	0.047538	0.85682	D	0.000000	T	0.42337	0.1198	.	.	.	0.80722	D	1	B	0.30741	0.293	B	0.43155	0.41	T	0.42120	-0.9470	9	0.44086	T	0.13	-19.3609	13.225	0.59909	1.0:0.0:0.0:0.0	.	167	Q66LE6	2ABD_HUMAN	G	136	ENSP00000399970:D136G	ENSP00000399970:D136G	D	+	2	0	PPP2R2D	133607484	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.328000	0.72915	1.786000	0.52430	0.533000	0.62120	GAT		0.343	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_018461		8	8	0	0	0	0.00308	0	8	8		
SYCE1	93426	broad.mit.edu	37	10	135369290	135369290	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:135369290G>A	ENST00000343131.5	-	10	817	c.713C>T	c.(712-714)gCc>gTc	p.A238V	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.A202V|SYCE1_ENST00000432597.2_Missense_Mutation_p.A202V	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	238					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTACACTGTGGCTGCAGCCTC	0.632																																						uc001lno.2		NaN																	0				ovary(1)	1						c.(712-714)GCC>GTC		synaptonemal complex central element protein 1							40.0	43.0	42.0					10																	135369290		2203	4300	6503	SO:0001583	missense	93426				cell division	central element		g.chr10:135369290G>A	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.713C>T	10.37:g.135369290G>A	ENSP00000341282:p.Ala238Val					CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.A110V|SYCE1_uc009ybn.2_Missense_Mutation_p.A238V|SYCE1_uc001lnn.2_Missense_Mutation_p.A202V	p.A238V	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	10	818	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	238			Potential.		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.713C>T	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400874	0.42613	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.47177	0.85;0.97;0.97;2.94	4.38	3.47	0.39725	.	0.079537	0.51477	D	0.000087	T	0.48077	0.1480	M	0.62723	1.935	0.20307	N	0.999915	P;P;P	0.45957	0.705;0.869;0.869	B;P;P	0.45276	0.439;0.475;0.475	T	0.47407	-0.9120	10	0.72032	D	0.01	2.0695	10.4365	0.44439	0.0:0.1975:0.8025:0.0	.	110;238;202	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	V	238;202;202;238	ENSP00000303978:A238V;ENSP00000411779:A202V;ENSP00000357503:A202V;ENSP00000341282:A238V	ENSP00000303978:A238V	A	-	2	0	SYCE1	135219280	0.325000	0.24660	0.025000	0.17156	0.451000	0.32288	1.912000	0.39946	1.413000	0.46997	0.655000	0.94253	GCC		0.632	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_201564		52	32	0	0	0	0.01441	0	52	32		
FRG2B	441581	broad.mit.edu	37	10	135439041	135439041	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:135439041G>T	ENST00000425520.1	-	4	451	c.399C>A	c.(397-399)caC>caA	p.H133Q	FRG2B_ENST00000443774.1_Missense_Mutation_p.H134Q	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	133						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTTCACTGTTGTGCACAGGAG	0.532																																						uc010qvg.1		NaN																	0					0						c.(397-399)CAC>CAA		FSHD region gene 2 family, member B							63.0	75.0	71.0					10																	135439041		2191	4293	6484	SO:0001583	missense	441581					nucleus		g.chr10:135439041G>T	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.399C>A	10.37:g.135439041G>T	ENSP00000401310:p.His133Gln						p.H133Q	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	452	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	133					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.399C>A	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	8.402	0.842176	0.16963	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.42900	0.96;0.96	.	.	.	.	3.771100	0.00628	N	0.000471	T	0.44180	0.1281	N	0.14661	0.345	0.09310	N	1	D	0.53462	0.96	D	0.66497	0.944	T	0.41556	-0.9502	8	0.36615	T	0.2	0.8546	.	.	.	.	133	Q96QU4	FRG2B_HUMAN	Q	134;133	ENSP00000408343:H134Q;ENSP00000401310:H133Q	ENSP00000401310:H133Q	H	-	3	2	FRG2B	135289031	0.064000	0.20934	0.155000	0.22561	0.156000	0.22039	0.308000	0.19314	0.119000	0.18210	0.121000	0.15741	CAC		0.532	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1		NM_001080998		38	59	1	0	1.90571e-15	0.004289	2.02499e-15	38	59		
TRPM5	29850	broad.mit.edu	37	11	2432685	2432685	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:2432685C>G	ENST00000155858.6	-	18	2687	c.2679G>C	c.(2677-2679)gcG>gcC	p.A893A	TRPM5_ENST00000533060.1_Silent_p.A893A|TRPM5_ENST00000528453.1_Silent_p.A893A|TRPM5_ENST00000452833.1_Silent_p.A895A	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTGCAGCAGCGCCTGGGTGG	0.632																																					NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2677-2679)GCG>GCC		transient receptor potential cation channel,							33.0	37.0	36.0					11																	2432685		2202	4295	6497	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2432685C>G	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2679G>C	11.37:g.2432685C>G						TRPM5_uc010qxl.1_Silent_p.A893A|TRPM5_uc009ydn.2_Silent_p.A895A	p.A893A	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	18	2688	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	893			Helical; (Potential).			Silent	SNP	ENST00000155858.6	37	c.2679G>C	CCDS31340.1																																																																																				0.632	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1		NM_014555		44	30	0	0	0	0.009718	0	44	30		
OR6A2	8590	broad.mit.edu	37	11	6816047	6816047	+	Missense_Mutation	SNP	C	C	T	rs187052918	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:6816047C>T	ENST00000332601.3	-	1	1081	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	298					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTTGATTGCGCAGGCAGTA	0.488													C|||	2	0.000399361	0.0	0.0014	5008	,	,		21325	0.0		0.001	False		,,,				2504	0.0					uc001mes.1		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(892-894)CGC>CAC		olfactory receptor, family 6, subfamily A,		C	HIS/ARG	0,4402		0,0,2201	136.0	128.0	131.0		893	2.1	0.9	11		131	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR6A2	NM_003696.2	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	298/328	6816047	1,12993	2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816047C>T	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.893G>A	11.37:g.6816047C>T	ENSP00000330384:p.Arg298His						p.R298H	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1093	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	298			Cytoplasmic (Potential).		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.893G>A	CCDS7772.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.53	1.965876	0.34659	0.0	1.16E-4	ENSG00000184933	ENST00000332601	T	0.41065	1.01	5.04	2.14	0.27477	.	0.000000	0.52532	D	0.000076	T	0.56673	0.2001	M	0.61703	1.905	0.24939	N	0.991867	D	0.89917	1.0	D	0.65874	0.939	T	0.52764	-0.8532	10	0.87932	D	0	.	11.7726	0.51967	0.0:0.7766:0.0:0.2234	.	298	O95222	OR6A2_HUMAN	H	298	ENSP00000330384:R298H	ENSP00000330384:R298H	R	-	2	0	OR6A2	6772623	0.149000	0.22717	0.907000	0.35723	0.167000	0.22549	3.587000	0.53957	0.131000	0.18576	-0.797000	0.03246	CGC		0.488	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1		NM_003696		30	73	0	0	0	0.003755	0	30	73		
C11orf16	56673	broad.mit.edu	37	11	8947368	8947368	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:8947368G>C	ENST00000326053.5	-	5	952	c.846C>G	c.(844-846)ctC>ctG	p.L282L	C11orf16_ENST00000528998.1_5'Flank|C11orf16_ENST00000525780.1_Silent_p.L282L	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	282										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GGCAGCCACAGAGGCAGCCCT	0.592																																						uc001mhb.3		NaN																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(844-846)CTC>CTG		hypothetical protein LOC56673							61.0	62.0	62.0					11																	8947368		2201	4296	6497	SO:0001819	synonymous_variant	56673							g.chr11:8947368G>C	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.846C>G	11.37:g.8947368G>C						C11orf16_uc001mhc.3_Silent_p.L282L	p.L282L	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	5	970	-			282					Q53FB2|Q8N6Y9	Silent	SNP	ENST00000326053.5	37	c.846C>G	CCDS7794.1																																																																																				0.592	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1		NM_020643		88	78	0	0	0	0.01441	0	88	78		
IPO7	10527	broad.mit.edu	37	11	9435902	9435902	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:9435902G>A	ENST00000379719.3	+	5	722	c.580G>A	c.(580-582)Gat>Aat	p.D194N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	194					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGACCAGTCTGATCAGTCTGT	0.398																																						uc001mho.2		NaN																	0				lung(1)|breast(1)	2						c.(580-582)GAT>AAT		importin 7							126.0	117.0	120.0					11																	9435902		2201	4296	6497	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9435902G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.580G>A	11.37:g.9435902G>A	ENSP00000369042:p.Asp194Asn						p.D194N	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	5	722	+			194					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.580G>A	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685682	0.47991	.	.	ENSG00000205339	ENST00000379719	T	0.67171	-0.25	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.313839	0.39083	N	0.001463	T	0.58793	0.2147	L	0.36672	1.1	0.35675	D	0.813626	B	0.02656	0.0	B	0.04013	0.001	T	0.58983	-0.7539	10	0.19590	T	0.45	.	19.3998	0.94623	0.0:0.0:1.0:0.0	.	194	O95373	IPO7_HUMAN	N	194	ENSP00000369042:D194N	ENSP00000369042:D194N	D	+	1	0	IPO7	9392478	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.466000	0.60148	2.576000	0.86940	0.650000	0.86243	GAT		0.398	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1		NM_006391		66	68	0	0	0	0.01441	0	66	68		
PDE3B	5140	broad.mit.edu	37	11	14665990	14665990	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:14665990C>T	ENST00000282096.4	+	1	722	c.369C>T	c.(367-369)ttC>ttT	p.F123F	PDE3B_ENST00000534317.1_3'UTR|PSMA1_ENST00000418988.2_5'Flank|PDE3B_ENST00000455098.2_Silent_p.F123F	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	123					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GCCCCCTCTTCAGCATCGCCT	0.716																																						uc001mln.2		NaN																	0					0						c.(367-369)TTC>TTT		phosphodiesterase 3B							33.0	36.0	35.0					11																	14665990		2199	4294	6493	SO:0001819	synonymous_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14665990C>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.369C>T	11.37:g.14665990C>T						PDE3B_uc001mlm.2_Silent_p.F123F|PDE3B_uc010rcr.1_Silent_p.F123F|PSMA1_uc001mll.2_5'Flank	p.F123F	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			1	722	+			123			Helical; (Potential).		B7ZM37|O00639|Q14408|Q6SEI4	Silent	SNP	ENST00000282096.4	37	c.369C>T	CCDS7817.1																																																																																				0.716	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1		NM_000922		33	32	0	0	0	0.00623	0	33	32		
E2F8	79733	broad.mit.edu	37	11	19256466	19256466	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:19256466C>T	ENST00000527884.1	-	5	823	c.591G>A	c.(589-591)ggG>ggA	p.G197G	E2F8_ENST00000250024.4_Silent_p.G197G|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	197					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TATTCTCCTCCCCGATGCTCT	0.428																																						uc001mpm.2		NaN																	0				skin(1)	1						c.(589-591)GGG>GGA		E2F family member 8							135.0	110.0	118.0					11																	19256466		2199	4293	6492	SO:0001819	synonymous_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19256466C>T		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.591G>A	11.37:g.19256466C>T						E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.G197G	p.G197G	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			5	1113	-			197					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	ENST00000527884.1	37	c.591G>A	CCDS7849.1																																																																																				0.428	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1		NM_024680		15	86	0	0	0	0.010504	0	15	86		
MYBPC3	4607	broad.mit.edu	37	11	47350217	47350217	+	IGR	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:47350217A>G	ENST00000545968.1	-	0	4217				MADD_ENST00000402192.2_Missense_Mutation_p.I1541V|MADD_ENST00000311027.5_Missense_Mutation_p.I1601V|MADD_ENST00000349238.3_Missense_Mutation_p.I1562V|MADD_ENST00000395336.3_Silent_p.K1577K|MADD_ENST00000342922.4_Missense_Mutation_p.I1542V|MADD_ENST00000402799.1_Missense_Mutation_p.I1499V|MADD_ENST00000406482.1_Silent_p.K1475K|MADD_ENST00000407859.3_Missense_Mutation_p.I1519V|MADD_ENST00000395344.3_Missense_Mutation_p.I1495V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac						cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGTTCCTGAAATTAAAGAAGT	0.577																																						uc001ner.1		NaN																	0				ovary(5)|skin(4)|central_nervous_system(2)	11						c.(4801-4803)ATT>GTT		MAP-kinase activating death domain-containing							104.0	87.0	93.0					11																	47350217		2201	4298	6499	SO:0001628	intergenic_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47350217A>G	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896			11.37:g.47350217A>G						MADD_uc001neq.2_Missense_Mutation_p.I1542V|MADD_uc001nev.1_Silent_p.K1475K|MADD_uc001nes.1_Missense_Mutation_p.I1519V|MADD_uc001net.1_Missense_Mutation_p.I1562V|MADD_uc009yln.1_Missense_Mutation_p.I1495V|MADD_uc001neu.1_Missense_Mutation_p.I1499V|MADD_uc001nex.2_Silent_p.K1577K|MADD_uc001nez.2_Missense_Mutation_p.I1498V|MADD_uc001new.2_Missense_Mutation_p.I1541V	p.I1601V	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	35	4992	+			1601					A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.4801A>G	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.085929	0.36758	.	.	ENSG00000110514	ENST00000342922;ENST00000402799;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000402192	T;T;T;T;T;T;T	0.05319	3.59;3.46;3.59;3.58;3.46;3.46;3.59	5.84	5.84	0.93424	.	0.048617	0.85682	D	0.000000	T	0.04318	0.0119	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B	0.16603	0.004;0.005;0.007;0.018;0.008;0.007;0.018	B;B;B;B;B;B;B	0.18263	0.002;0.003;0.006;0.019;0.012;0.021;0.019	T	0.51052	-0.8754	10	0.16420	T	0.52	-14.8792	16.2106	0.82151	1.0:0.0:0.0:0.0	.	1495;1495;1499;1562;1519;1601;1542	B5MEE5;A8K8S7;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;MADD_HUMAN;.	V	1542;1499;1562;1601;1519;1495;1541	ENSP00000343902:I1542V;ENSP00000385585:I1499V;ENSP00000304505:I1562V;ENSP00000310933:I1601V;ENSP00000384204:I1519V;ENSP00000378753:I1495V;ENSP00000384287:I1541V	ENSP00000310933:I1601V	I	+	1	0	MADD	47306793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.673000	0.91186	2.238000	0.73509	0.397000	0.26171	ATT		0.577	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3				13	43	0	0	0	0.003163	0	13	43		
OR9G4	283189	broad.mit.edu	37	11	56510978	56510978	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:56510978C>T	ENST00000302957.3	-	1	309	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATGCGCTTATCTTCTGAGACA	0.458																																						uc010rjo.1		NaN																	0				ovary(2)|skin(1)	3						c.(310-312)GAT>AAT		olfactory receptor, family 9, subfamily G,							96.0	99.0	98.0					11																	56510978		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510978C>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.310G>A	11.37:g.56510978C>T	ENSP00000307515:p.Asp104Asn						p.D104N	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	310	-			104			Extracellular (Potential).		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.310G>A	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862575	0.32884	.	.	ENSG00000172457	ENST00000302957	T	0.03004	4.08	5.07	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001059	T	0.07773	0.0195	L	0.31207	0.915	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.32903	-0.9889	10	0.16896	T	0.51	-16.7393	8.9359	0.35700	0.0:0.7657:0.1525:0.0818	.	104	Q8NGQ1	OR9G4_HUMAN	N	104	ENSP00000307515:D104N	ENSP00000307515:D104N	D	-	1	0	OR9G4	56267554	0.000000	0.05858	0.839000	0.33178	0.961000	0.63080	0.092000	0.15066	1.358000	0.45922	0.643000	0.83706	GAT		0.458	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1		NM_001005284		57	77	0	0	0	0.01441	0	57	77		
MRPL16	54948	broad.mit.edu	37	11	59578113	59578113	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:59578113G>A	ENST00000300151.4	-	1	232	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	7					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						GCACTAGCGCGAGCCAGCAGC	0.652																																						uc001noh.2		NaN																	0				central_nervous_system(1)	1						c.(19-21)CGC>TGC		mitochondrial ribosomal protein L16 precursor							48.0	55.0	53.0					11																	59578113		2201	4292	6493	SO:0001583	missense	54948						rRNA binding	g.chr11:59578113G>A	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.19C>T	11.37:g.59578113G>A	ENSP00000300151:p.Arg7Cys						p.R7C	NM_017840	NP_060310	Q9NX20	RM16_HUMAN			1	233	-			7					Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	c.19C>T	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621708	0.46736	.	.	ENSG00000166902	ENST00000300151	T	0.29142	1.58	5.02	3.08	0.35506	.	0.346678	0.32548	N	0.005960	T	0.21881	0.0527	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.19778	-1.0295	10	0.87932	D	0	-4.7869	7.1421	0.25562	0.0939:0.1731:0.733:0.0	.	7	Q9NX20	RM16_HUMAN	C	7	ENSP00000300151:R7C	ENSP00000300151:R7C	R	-	1	0	MRPL16	59334689	0.938000	0.31826	0.033000	0.17914	0.032000	0.12392	2.651000	0.46674	1.312000	0.45043	0.650000	0.86243	CGC		0.652	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1		NM_017840		45	80	0	0	0	0.01441	0	45	80		
MS4A4A	51338	broad.mit.edu	37	11	60070049	60070049	+	Silent	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:60070049A>G	ENST00000337908.4	+	5	495	c.405A>G	c.(403-405)ggA>ggG	p.G135G	MS4A4A_ENST00000532114.1_Intron|MS4A4A_ENST00000395016.3_Silent_p.G116G|MS4A4A_ENST00000355131.3_Silent_p.G116G	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	135						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GTAGTCTAGGAATGAATATCA	0.393																																						uc001noz.2		NaN																	0					0						c.(403-405)GGA>GGG		membrane-spanning 4-domains, subfamily A, member							158.0	136.0	144.0					11																	60070049		2203	4300	6503	SO:0001819	synonymous_variant	51338					integral to membrane	receptor activity	g.chr11:60070049A>G	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.405A>G	11.37:g.60070049A>G						MS4A4A_uc001npa.2_Silent_p.G116G|MS4A4A_uc001npb.2_Silent_p.G116G|MS4A4A_uc001npc.2_Intron	p.G135G	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN			5	415	+			135			Cytoplasmic (Potential).		Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Silent	SNP	ENST00000337908.4	37	c.405A>G	CCDS7982.1																																																																																				0.393	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2				14	69	0	0	0	0.004007	0	14	69		
DDB1	1642	broad.mit.edu	37	11	61099151	61099151	+	Missense_Mutation	SNP	G	G	A	rs35597036		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:61099151G>A	ENST00000301764.7	-	2	471	c.74C>T	c.(73-75)tCg>tTg	p.S25L	DDB1_ENST00000450997.2_Missense_Mutation_p.S25L|DAK_ENST00000394900.3_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	25	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCTTCGGCCGAAGTAAAGTG	0.468								Nucleotide excision repair (NER)																														uc001nrc.3		NaN																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(73-75)TCG>TTG	NER	damage-specific DNA binding protein 1		G	LEU/SER	0,4406		0,0,2203	89.0	89.0	89.0		74	5.2	1.0	11	dbSNP_126	89	5,8593	4.3+/-15.6	0,5,4294	yes	missense	DDB1	NM_001923.3	145	0,5,6497	AA,AG,GG		0.0582,0.0,0.0384	probably-damaging	25/1141	61099151	5,12999	2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61099151G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.74C>T	11.37:g.61099151G>A	ENSP00000301764:p.Ser25Leu					DDB1_uc010rle.1_Missense_Mutation_p.S25L|DDB1_uc010rlf.1_Missense_Mutation_p.S25L|DDB1_uc001nrd.2_Missense_Mutation_p.S25L|DDB1_uc009ynl.1_Missense_Mutation_p.S25L|DAK_uc001nre.2_5'Flank	p.S25L	NM_001923	NP_001914	Q16531	DDB1_HUMAN			2	300	-			25			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.74C>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	34	5.346337	0.95807	0.0	5.82E-4	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000543658;ENST00000542337;ENST00000543627	T;T	0.50001	1.42;0.76	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.86178	2.8	0.37866	D	0.929872	P;D;D;D	0.76494	0.934;0.999;0.998;0.996	P;P;P;P	0.59056	0.706;0.851;0.643;0.714	T	0.78628	-0.2130	10	0.72032	D	0.01	-5.2047	18.7258	0.91713	0.0:0.0:1.0:0.0	rs35597036	25;25;25;25	B4DG00;F5GY55;B7Z2A1;Q16531	.;.;.;DDB1_HUMAN	L	25	ENSP00000301764:S25L;ENSP00000388705:S25L	ENSP00000301764:S25L	S	-	2	0	DDB1	60855727	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.755000	0.98912	2.417000	0.82017	0.563000	0.77884	TCG		0.468	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1		NM_001923		19	70	0	0	0	0.003954	0	19	70		
FADS1	3992	broad.mit.edu	37	11	61570834	61570834	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:61570834C>T	ENST00000350997.7	-	9	1481		c.e9+1		FADS1_ENST00000460649.1_Splice_Site|FADS1_ENST00000542506.1_Splice_Site|FADS1_ENST00000536991.1_Splice_Site|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Splice_Site	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1						alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTGTCCCTTACCTGGGTGGAA	0.458																																						uc010rlm.1		NaN																	0				central_nervous_system(1)	1						c.e9+1		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						179.0	173.0	175.0					11																	61570834		1947	4164	6111	SO:0001630	splice_region_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61570834C>T		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1248+1G>A	11.37:g.61570834C>T						FADS1_uc001nsh.2_Splice_Site_p.Q275_splice	p.Q416_splice	NM_013402	NP_037534	O60427	FADS1_HUMAN			9	1376	-								A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Splice_Site	SNP	ENST00000350997.7	37	c.1248_splice	CCDS8011.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105144	0.77096	.	.	ENSG00000149485	ENST00000543488;ENST00000350997;ENST00000412725;ENST00000536991;ENST00000433932;ENST00000460649;ENST00000542506	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1317	0.86728	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FADS1	61327410	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.188000	0.77739	2.205000	0.71048	0.655000	0.94253	.		0.458	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2		NM_013402	Intron	78	196	0	0	0	0.01441	0	78	196		
FADS1	3992	broad.mit.edu	37	11	61580784	61580784	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:61580784C>T	ENST00000350997.7	-	2	649	c.417G>A	c.(415-417)aaG>aaA	p.K139K	FADS2_ENST00000257261.6_5'Flank|MIR1908_ENST00000410394.1_RNA|FADS1_ENST00000542506.1_5'UTR|FADS1_ENST00000541683.1_5'Flank|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_5'UTR	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	82					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATATACTTCTTCACAAGGC	0.532																																						uc010rlm.1		NaN																	0				central_nervous_system(1)	1						c.(415-417)AAG>AAA		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						128.0	137.0	134.0					11																	61580784		2099	4233	6332	SO:0001819	synonymous_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61580784C>T		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.417G>A	11.37:g.61580784C>T						FADS2_uc001nsj.2_5'Flank|FADS1_uc001nsh.2_5'UTR|FADS1_uc010rln.1_5'UTR	p.K139K	NM_013402	NP_037534	O60427	FADS1_HUMAN			2	545	-			82			Cytoplasmic (Potential).|Cytochrome b5 heme-binding.		A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	c.417G>A	CCDS8011.2																																																																																				0.532	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2		NM_013402		103	154	0	0	0	0.01441	0	103	154		
EML3	256364	broad.mit.edu	37	11	62376050	62376050	+	Silent	SNP	G	G	A	rs138198368		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:62376050G>A	ENST00000394773.2	-	9	1381	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	EML3_ENST00000494176.2_Silent_p.F330F|EML3_ENST00000278845.4_Silent_p.F359F|EML3_ENST00000529309.1_Silent_p.F358F|EML3_ENST00000531557.1_Silent_p.F141F|EML3_ENST00000438258.1_5'Flank|RP11-831H9.3_ENST00000532626.1_RNA	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	358						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CACCCCGCTCGAAGGCCCCCA	0.597																																						uc001ntu.1		NaN																	0				ovary(1)	1						c.(1072-1074)TTC>TTT		echinoderm microtubule associated protein like		G		1,4403	2.1+/-5.4	0,1,2201	108.0	124.0	119.0		1074	-1.1	1.0	11	dbSNP_134	119	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	EML3	NM_153265.2		0,4,6497	AA,AG,GG		0.0349,0.0227,0.0308		358/897	62376050	4,12998	2202	4299	6501	SO:0001819	synonymous_variant	256364					cytoplasm|microtubule	protein binding	g.chr11:62376050G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1074C>T	11.37:g.62376050G>A						EML3_uc001ntr.1_Silent_p.F330F|EML3_uc001nts.1_Silent_p.F330F|EML3_uc001ntt.1_Silent_p.F242F|EML3_uc010rly.1_Silent_p.F358F|EML3_uc009yny.1_Silent_p.F141F	p.F358F	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN			9	1382	-			358			WD 2.		Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	c.1074C>T	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	G	8.331	0.826577	0.16749	2.27E-4	3.49E-4	ENSG00000149499	ENST00000394776	.	.	.	5.3	-1.15	0.09709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.7128	10.0554	0.42241	0.582:0.0:0.418:0.0	.	.	.	.	X	353	.	.	R	-	1	2	EML3	62132626	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	0.531000	0.23052	-0.218000	0.10018	-0.379000	0.06801	CGA		0.597	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1		NM_153265		51	348	0	0	0	0.01441	0	51	348		
TAF6L	10629	broad.mit.edu	37	11	62554200	62554200	+	Missense_Mutation	SNP	C	C	T	rs200048334	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:62554200C>T	ENST00000294168.3	+	11	1502	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	RP11-727F15.12_ENST00000601484.1_RNA|TMEM179B_ENST00000333449.4_5'Flank|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_5'Flank	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	434					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCTTCTCTTTCGGTGACCCTG	0.692											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0029	5008	,	,		11203	0.0		0.0	False		,,,				2504	0.0					uc001nvc.2		NaN																	0				ovary(3)	3						c.(1300-1302)TCG>TTG		TAF6-like RNA polymerase II							17.0	20.0	19.0					11																	62554200		2192	4293	6485	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62554200C>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1301C>T	11.37:g.62554200C>T	ENSP00000294168:p.Ser434Leu		OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1062	TMEM179B_uc001nvd.3_5'Flank	p.S434L	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN			11	1402	+			434					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.1301C>T	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051879	0.55218	.	.	ENSG00000162227	ENST00000294168	T	0.46063	0.88	4.76	3.85	0.44370	.	0.289804	0.33792	N	0.004549	T	0.26991	0.0661	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07947	-1.0746	10	0.56958	D	0.05	-0.2319	9.2251	0.37402	0.0:0.9006:0.0:0.0994	.	434	Q9Y6J9	TAF6L_HUMAN	L	434	ENSP00000294168:S434L	ENSP00000294168:S434L	S	+	2	0	TAF6L	62310776	0.004000	0.15560	0.270000	0.24601	0.921000	0.55340	1.946000	0.40283	1.360000	0.45960	0.561000	0.74099	TCG		0.692	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1		NM_006473		25	45	0	0	0	0.008361	0	25	45		
SLC22A8	9376	broad.mit.edu	37	11	62760793	62760793	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:62760793C>G	ENST00000336232.2	-	11	1680	c.1545G>C	c.(1543-1545)aaG>aaC	p.K515N	SLC22A8_ENST00000430500.2_Missense_Mutation_p.K515N|SLC22A8_ENST00000535878.1_Missense_Mutation_p.K392N|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000311438.8_3'UTR|SLC22A8_ENST00000545207.1_Missense_Mutation_p.K424N	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	515					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCTTTGGCTTCTTTGCCCGCA	0.632																																						uc001nwo.2		NaN																	0				skin(2)|ovary(1)	3						c.(1543-1545)AAG>AAC		solute carrier family 22 member 8							56.0	55.0	55.0					11																	62760793		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62760793C>G	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1545G>C	11.37:g.62760793C>G	ENSP00000337335:p.Lys515Asn					SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_3'UTR|SLC22A8_uc009yom.2_Missense_Mutation_p.K392N|SLC22A8_uc010rmm.1_Missense_Mutation_p.K424N|SLC22A8_uc009yon.2_Missense_Mutation_p.K515N	p.K515N	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			11	1681	-			515			Extracellular (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.1545G>C	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208501	0.39003	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000430500	T;T;T;T	0.68025	-0.27;-0.3;-0.24;-0.27	5.26	3.37	0.38596	.	0.975127	0.08424	N	0.947938	T	0.46151	0.1378	N	0.08118	0	0.23076	N	0.998336	B	0.19935	0.04	B	0.17433	0.018	T	0.37865	-0.9687	10	0.54805	T	0.06	.	6.7706	0.23591	0.1751:0.7343:0.0:0.0906	.	515	Q8TCC7	S22A8_HUMAN	N	515;501;424;392;515	ENSP00000337335:K515N;ENSP00000441658:K424N;ENSP00000443368:K392N;ENSP00000398548:K515N	ENSP00000337335:K515N	K	-	3	2	SLC22A8	62517369	0.636000	0.27207	0.058000	0.19502	0.339000	0.28857	1.802000	0.38853	0.700000	0.31782	0.491000	0.48974	AAG		0.632	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1		NM_004254		10	28	0	0	0	0.010729	0	10	28		
MARK2	2011	broad.mit.edu	37	11	63666130	63666130	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:63666130G>A	ENST00000509502.2	+	5	752	c.289G>A	c.(289-291)Gag>Aag	p.E97K	MARK2_ENST00000425897.2_Missense_Mutation_p.E97K|MARK2_ENST00000408948.3_Missense_Mutation_p.E97K|MARK2_ENST00000508192.1_Missense_Mutation_p.E130K|MARK2_ENST00000377810.3_Missense_Mutation_p.E97K|MARK2_ENST00000502399.3_Missense_Mutation_p.E130K|MARK2_ENST00000315032.8_Missense_Mutation_p.E130K|MARK2_ENST00000350490.7_Missense_Mutation_p.E130K|MARK2_ENST00000377809.4_Missense_Mutation_p.E130K|MARK2_ENST00000361128.5_Missense_Mutation_p.E130K|MARK2_ENST00000513765.2_Missense_Mutation_p.E97K|MARK2_ENST00000402010.2_Missense_Mutation_p.E130K|MARK2_ENST00000413835.2_Missense_Mutation_p.E130K	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.E97*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTTGTCATGGAGTACGCTAG	0.498																																						uc001nxw.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	stomach(1)|ovary(1)|lung(1)	3						c.(388-390)GAG>AAG		MAP/microtubule affinity-regulating kinase 2							161.0	148.0	153.0					11																	63666130		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63666130G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.289G>A	11.37:g.63666130G>A	ENSP00000423974:p.Glu97Lys					MARK2_uc001nxx.2_Missense_Mutation_p.E130K|MARK2_uc001nxy.2_Missense_Mutation_p.E130K|MARK2_uc001nxv.3_Missense_Mutation_p.E130K|MARK2_uc001nxz.3_Missense_Mutation_p.E97K|MARK2_uc009yoy.2_Missense_Mutation_p.E97K	p.E130K	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			5	967	+			130			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.388G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113682	0.94339	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.26	5.26	0.73747	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	0.78868	0.4351	H	0.96518	3.835	0.80722	D	1	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;0.999;1.0	D	0.85379	0.1118	10	0.87932	D	0	.	16.42	0.83755	0.0:0.0:1.0:0.0	.	97;97;130;130;130;130	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	K	130;130;130;130;97;130;130;130;130;97;97;97;97;97;97	ENSP00000385751:E130K;ENSP00000326632:E130K;ENSP00000367040:E130K;ENSP00000389184:E130K;ENSP00000367041:E97K;ENSP00000425765:E130K;ENSP00000355091:E130K;ENSP00000294247:E130K;ENSP00000444956:E97K;ENSP00000437509:E97K;ENSP00000423974:E97K;ENSP00000421075:E97K;ENSP00000386128:E97K;ENSP00000415494:E97K	ENSP00000326632:E130K	E	+	1	0	MARK2	63422706	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.489000	0.81451	2.735000	0.93741	0.563000	0.77884	GAG		0.498	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2		NM_017490		47	121	0	0	0	0.01441	0	47	121		
PLCB3	5331	broad.mit.edu	37	11	64030227	64030227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:64030227C>T	ENST00000540288.1	+	19	2405	c.2302C>T	c.(2302-2304)Cag>Tag	p.Q768*	PLCB3_ENST00000279230.6_Nonsense_Mutation_p.Q768*|PLCB3_ENST00000325234.5_Nonsense_Mutation_p.Q701*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	768	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCGGACCTCTCAGGGGAACTC	0.637																																						uc001nzb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(2302-2304)CAG>TAG		phospholipase C beta 3							131.0	120.0	124.0					11																	64030227		2201	4297	6498	SO:0001587	stop_gained	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64030227C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2302C>T	11.37:g.64030227C>T	ENSP00000443631:p.Gln768*					PLCB3_uc009ypg.1_Nonsense_Mutation_p.Q768*|PLCB3_uc009yph.1_Nonsense_Mutation_p.Q701*|PLCB3_uc009ypi.2_Nonsense_Mutation_p.Q768*	p.Q768*	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			19	2302	+			768			C2.		A5PKZ6|G5E960|Q8N1A4	Nonsense_Mutation	SNP	ENST00000540288.1	37	c.2302C>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	40	7.955197	0.98580	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	.	.	.	5.21	5.21	0.72293	.	0.236737	0.43747	D	0.000532	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	17.5322	0.87818	0.0:1.0:0.0:0.0	.	.	.	.	X	768;768;701	.	ENSP00000279230:Q768X	Q	+	1	0	PLCB3	63786803	0.986000	0.35501	0.948000	0.38648	0.941000	0.58515	2.841000	0.48223	2.437000	0.82529	0.591000	0.81541	CAG		0.637	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				165	227	0	0	0	0.01441	0	165	227		
CAPN1	823	broad.mit.edu	37	11	64972254	64972254	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:64972254C>G	ENST00000527323.1	+	10	1506	c.1266C>G	c.(1264-1266)gcC>gcG	p.A422A	CAPN1_ENST00000524773.1_Silent_p.A422A|CAPN1_ENST00000279247.6_Silent_p.A422A|CAPN1_ENST00000533820.1_Silent_p.A422A|CAPN1_ENST00000533129.1_Silent_p.A422A			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	422	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TCGTGCTCGCCCTTATGCAGA	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009yqd.1		NaN																	0				ovary(1)	1						c.(1264-1266)GCC>GCG		calpain 1, large subunit							45.0	54.0	51.0					11																	64972254		2076	4203	6279	SO:0001819	synonymous_variant	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64972254C>G	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1266C>G	11.37:g.64972254C>G			OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080	CAPN1_uc001odf.1_Silent_p.A422A|CAPN1_uc001odg.1_Silent_p.A422A|CAPN1_uc010roa.1_Silent_p.A163A	p.A422A	NM_005186	NP_005177	P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	11	1377	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	422			Domain III.		Q2TTR0|Q6DHV4	Silent	SNP	ENST00000527323.1	37	c.1266C>G	CCDS44644.1																																																																																				0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1				39	84	0	0	0	0.009718	0	39	84		
KCNK7	10089	broad.mit.edu	37	11	65363055	65363055	+	Silent	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:65363055C>A	ENST00000340313.4	-	1	412	c.189G>T	c.(187-189)ctG>ctT	p.L63L	KCNK7_ENST00000394217.2_Silent_p.L63L|KCNK7_ENST00000394216.2_Silent_p.L63L|KCNK7_ENST00000342202.4_Silent_p.L63L	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	63					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GCAGCTCTTCCAGAGCTCCGG	0.687																																						uc001oes.2		NaN																	0					0						c.(187-189)CTG>CTT		potassium channel, subfamily K, member 7 isoform							15.0	16.0	16.0					11																	65363055		2194	4292	6486	SO:0001819	synonymous_variant	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65363055C>A	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.189G>T	11.37:g.65363055C>A						KCNK7_uc001oeq.2_Silent_p.L63L|KCNK7_uc001oer.2_Silent_p.L63L|KCNK7_uc001oeu.2_Silent_p.L63L	p.L63L	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN			1	413	-			63					Q3SYI2|Q9Y2U3|Q9Y2U4	Silent	SNP	ENST00000340313.4	37	c.189G>T	CCDS31608.1																																																																																				0.687	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1		NM_005714		8	7	1	0	0.000157383	0.00308	0.000160996	8	7		
SLC29A2	3177	broad.mit.edu	37	11	66134033	66134033	+	Missense_Mutation	SNP	C	C	T	rs141666252		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:66134033C>T	ENST00000357440.2	-	8	964	c.736G>A	c.(736-738)Gag>Aag	p.E246K	SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000546034.1_Missense_Mutation_p.E246K|SLC29A2_ENST00000544554.1_Missense_Mutation_p.E246K	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	246					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ATCCCGTTCTCATCTGGGGTG	0.577																																						uc001oht.2		NaN																	0				ovary(1)	1						c.(736-738)GAG>AAG		solute carrier family 29 (nucleoside		C	LYS/GLU	2,4398	4.2+/-10.8	0,2,2198	43.0	42.0	42.0		736	4.3	1.0	11	dbSNP_134	42	0,8590		0,0,4295	no	missense	SLC29A2	NM_001532.2	56	0,2,6493	TT,TC,CC		0.0,0.0455,0.0154	benign	246/457	66134033	2,12988	2200	4295	6495	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66134033C>T	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.736G>A	11.37:g.66134033C>T	ENSP00000350024:p.Glu246Lys					SLC29A2_uc001ohs.2_Missense_Mutation_p.E126K|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.E126K|SLC29A2_uc001ohu.2_Missense_Mutation_p.E246K|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank	p.E246K	NM_001532	NP_001523	Q14542	S29A2_HUMAN			8	965	-			246					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.736G>A	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212228	0.58452	4.55E-4	0.0	ENSG00000174669	ENST00000357440;ENST00000544554;ENST00000546034	T;T;T	0.66280	-0.2;-0.2;-0.2	5.24	4.32	0.51571	.	0.981968	0.08373	N	0.955730	T	0.50837	0.1639	N	0.17345	0.48	0.24354	N	0.994905	P	0.49185	0.92	P	0.47603	0.551	T	0.22695	-1.0209	10	0.14656	T	0.56	-6.6317	9.6104	0.39659	0.0:0.903:0.0:0.097	.	246	Q14542	S29A2_HUMAN	K	246	ENSP00000350024:E246K;ENSP00000439456:E246K;ENSP00000440329:E246K	ENSP00000350024:E246K	E	-	1	0	SLC29A2	65890609	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	1.522000	0.35921	1.213000	0.43380	0.644000	0.83932	GAG		0.577	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1		NM_001532		25	66	0	0	0	0.012213	0	25	66		
INPPL1	3636	broad.mit.edu	37	11	71949115	71949115	+	Silent	SNP	C	C	T	rs34634942		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:71949115C>T	ENST00000298229.2	+	27	3786	c.3582C>T	c.(3580-3582)agC>agT	p.S1194S	PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Silent_p.S952S|INPPL1_ENST00000541756.1_Silent_p.S952S	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1194					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGCGGGCCAGCGGGCTGGGCG	0.652											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001osf.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(3580-3582)AGC>AGT		inositol polyphosphate phosphatase-like 1							18.0	19.0	19.0					11																	71949115		2196	4289	6485	SO:0001819	synonymous_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71949115C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3582C>T	11.37:g.71949115C>T			OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1133	INPPL1_uc001osg.2_Silent_p.S952S	p.S1194S	NM_001567	NP_001558	O15357	SHIP2_HUMAN			27	3729	+			1194					B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	c.3582C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	8.920	0.960934	0.18583	.	.	ENSG00000165458	ENST00000320683	.	.	.	4.84	0.961	0.19638	.	.	.	.	.	T	0.57007	0.2024	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49072	-0.8977	4	.	.	.	.	9.0712	0.36493	0.0:0.7108:0.0:0.2892	.	.	.	.	V	56	.	.	A	+	2	0	INPPL1	71626763	0.997000	0.39634	0.731000	0.30826	0.883000	0.51084	1.725000	0.38074	0.019000	0.15079	-0.216000	0.12614	GCG		0.652	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1		NM_001567		10	53	0	0	0	0.001855	0	10	53		
ARHGEF17	9828	broad.mit.edu	37	11	73066682	73066682	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:73066682C>G	ENST00000263674.3	+	4	3908	c.3558C>G	c.(3556-3558)ctC>ctG	p.L1186L	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1186	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTGCCTTTCTCAAGTTCCTAG	0.557																																						uc001otu.2		NaN																	0					0						c.(3556-3558)CTC>CTG		Rho guanine nucleotide exchange factor (GEF) 17							90.0	87.0	88.0					11																	73066682		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73066682C>G	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3558C>G	11.37:g.73066682C>G							p.L1186L	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			4	3579	+			1186			DH.		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.3558C>G	CCDS8221.1																																																																																				0.557	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		NM_014786		34	88	0	0	0	0.01441	0	34	88		
MYO7A	4647	broad.mit.edu	37	11	76903243	76903243	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:76903243T>A	ENST00000409709.3	+	31	4344	c.4072T>A	c.(4072-4074)Tcc>Acc	p.S1358T	MYO7A_ENST00000458637.2_Missense_Mutation_p.S1358T|MYO7A_ENST00000409619.2_Missense_Mutation_p.S1347T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1358	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCACAGCCCCTCCGAGGACAA	0.622											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oyb.2		NaN																	0				ovary(3)|breast(1)	4						c.(4072-4074)TCC>ACC		myosin VIIA isoform 1							98.0	110.0	106.0					11																	76903243		2152	4248	6400	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76903243T>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4072T>A	11.37:g.76903243T>A	ENSP00000386331:p.Ser1358Thr		OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	MYO7A_uc010rsm.1_Missense_Mutation_p.S1347T|MYO7A_uc001oyc.2_Missense_Mutation_p.S1358T|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.S569T	p.S1358T	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			31	4344	+			1358			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4072T>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	T	0.049	-1.256933	0.01457	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	4.68	1.92	0.25849	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.573808	0.16632	N	0.206008	T	0.29321	0.0730	N	0.01417	-0.88	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.33777	-0.9855	10	0.02654	T	1	.	1.162	0.01808	0.2766:0.1063:0.1382:0.4789	.	1347;1358;1358	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	T	1358;1358;1347;569;1357;1327;1234;539	ENSP00000386331:S1358T;ENSP00000392185:S1358T;ENSP00000386635:S1347T;ENSP00000417017:S539T	ENSP00000345075:S1234T	S	+	1	0	MYO7A	76580891	0.000000	0.05858	0.789000	0.31954	0.240000	0.25518	0.806000	0.27126	0.639000	0.30564	0.386000	0.25728	TCC		0.622	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1		NM_000260		79	107	0	0	0	0.01441	0	79	107		
SYTL2	54843	broad.mit.edu	37	11	85456690	85456690	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:85456690C>T	ENST00000528231.1	-	3	656	c.379G>A	c.(379-381)Gca>Aca	p.A127T	SYTL2_ENST00000389960.4_Missense_Mutation_p.A127T|SYTL2_ENST00000524452.1_Missense_Mutation_p.A127T|SYTL2_ENST00000527523.1_Missense_Mutation_p.A79T|SYTL2_ENST00000316356.4_Missense_Mutation_p.A127T	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	127					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCGGGCTTGCTGGTGCTGCA	0.532																																						uc010rth.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(379-381)GCA>ACA		synaptotagmin-like 2 isoform g							161.0	145.0	151.0					11																	85456690		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85456690C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.379G>A	11.37:g.85456690C>T	ENSP00000431701:p.Ala127Thr					SYTL2_uc010rtg.1_Missense_Mutation_p.A127T|SYTL2_uc010rti.1_Missense_Mutation_p.A127T|SYTL2_uc010rtj.1_Missense_Mutation_p.A79T|SYTL2_uc001pbf.3_Missense_Mutation_p.A127T	p.A127T	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	3	655	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	127					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.379G>A	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441869	0.25900	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.26518	1.84;1.81;1.85;1.73;1.84	6.02	-1.38	0.09027	.	.	.	.	.	T	0.13670	0.0331	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.09022	0.001;0.002;0.001;0.001	B;B;B;B	0.09377	0.004;0.003;0.001;0.004	T	0.31971	-0.9924	8	.	.	.	.	4.7266	0.12943	0.2485:0.4513:0.0:0.3002	.	79;127;127;127	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13	.;.;SYTL2_HUMAN;.	T	127;127;127;79;127	ENSP00000374610:A127T;ENSP00000318803:A127T;ENSP00000431701:A127T;ENSP00000434010:A79T;ENSP00000435238:A127T	.	A	-	1	0	SYTL2	85134338	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.712000	0.05013	-0.086000	0.12550	-0.157000	0.13467	GCA		0.532	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927		78	192	0	0	0	0.01441	0	78	192		
TYR	7299	broad.mit.edu	37	11	88911234	88911234	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:88911234C>T	ENST00000263321.5	+	1	615	c.113C>T	c.(112-114)cCg>cTg	p.P38L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	38					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	TGCTGTCCACCGTGGAGCGGG	0.547																																						uc001pcs.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(112-114)CCG>CTG		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						68.0	65.0	66.0					11																	88911234		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911234C>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.113C>T	11.37:g.88911234C>T	ENSP00000263321:p.Pro38Leu						p.P38L	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	195	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	38			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.113C>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	2.876	-0.232789	0.05983	.	.	ENSG00000077498	ENST00000263321	D	0.99070	-5.39	6.07	1.65	0.23941	.	0.827463	0.11514	N	0.556429	D	0.96445	0.8840	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	D	0.91761	0.5420	9	.	.	.	.	5.5667	0.17175	0.1344:0.5517:0.0:0.3138	.	38	P14679	TYRO_HUMAN	L	38	ENSP00000263321:P38L	.	P	+	2	0	TYR	88550882	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-0.025000	0.12413	0.444000	0.26612	0.655000	0.94253	CCG		0.547	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2		NM_000372		48	50	0	0	0	0.01441	0	48	50		
GPR83	10888	broad.mit.edu	37	11	94134384	94134384	+	Silent	SNP	G	G	T	rs368324551		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:94134384G>T	ENST00000243673.2	-	1	201	c.30C>A	c.(28-30)ctC>ctA	p.L10L	GPR83_ENST00000539203.2_Silent_p.L10L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	10					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCAAGGGGAGGAGACAGAGCA	0.711																																						uc001pet.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(28-30)CTC>CTA		G protein-coupled receptor 83 precursor							21.0	23.0	22.0					11																	94134384		2199	4285	6484	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134384G>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.30C>A	11.37:g.94134384G>T							p.L10L	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			1	202	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	10					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.30C>A	CCDS8297.1																																																																																				0.711	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1		NM_016540		18	46	1	0	2.94398e-08	0.007413	3.06432e-08	18	46		
KDM4E	390245	broad.mit.edu	37	11	94759441	94759441	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:94759441G>C	ENST00000450979.2	+	1	1020	c.720G>C	c.(718-720)cgG>cgC	p.R240R		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	240	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						CCTTCCTGCGGCACAAAGTGG	0.562																																						uc010ruf.1		NaN																	0					0						c.(718-720)CGG>CGC		lysine (K)-specific demethylase 4D-like							37.0	37.0	37.0					11																	94759441		692	1591	2283	SO:0001819	synonymous_variant	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759441G>C	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.720G>C	11.37:g.94759441G>C							p.R240R	NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN			1	1020	+			240			JmjC.			Silent	SNP	ENST00000450979.2	37	c.720G>C	CCDS44713.1																																																																																				0.562	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1		NM_001161630		17	20	0	0	0	0.006122	0	17	20		
CWF19L2	143884	broad.mit.edu	37	11	107205622	107205622	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:107205622T>A	ENST00000282251.5	-	16	2451	c.2424A>T	c.(2422-2424)aaA>aaT	p.K808N		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	808							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTCTGATATCTTTTGAAGAGA	0.338																																						uc010rvp.1		NaN																	0					0						c.(2422-2424)AAA>AAT		CWF19-like 2, cell cycle control							100.0	108.0	105.0					11																	107205622		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107205622T>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2424A>T	11.37:g.107205622T>A	ENSP00000282251:p.Lys808Asn					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.K808N	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	16	2454	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	808					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.2424A>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961614	0.53400	.	.	ENSG00000152404	ENST00000282251;ENST00000409771	T	0.31769	1.48	5.24	2.92	0.33932	Cwf19-like protein, C-terminal domain-2 (1);	0.194789	0.53938	D	0.000042	T	0.46852	0.1414	M	0.87682	2.9	0.80722	D	1	P	0.46142	0.873	P	0.51945	0.685	T	0.37478	-0.9704	10	0.41790	T	0.15	-26.7303	7.5698	0.27900	0.0:0.2369:0.0:0.7631	.	808	Q2TBE0	C19L2_HUMAN	N	808;66	ENSP00000282251:K808N	ENSP00000282251:K808N	K	-	3	2	CWF19L2	106710832	1.000000	0.71417	0.999000	0.59377	0.605000	0.37080	1.894000	0.39768	0.322000	0.23283	-0.263000	0.10527	AAA		0.338	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2		NM_152434		12	77	0	0	0	0.003163	0	12	77		
KDELC2	143888	broad.mit.edu	37	11	108357021	108357021	+	Missense_Mutation	SNP	G	G	A	rs200282748		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:108357021G>A	ENST00000323468.5	-	3	612	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	KDELC2_ENST00000434945.2_Missense_Mutation_p.P127S|KDELC2_ENST00000532730.1_5'Flank|KDELC2_ENST00000375648.1_Missense_Mutation_p.P127S	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	183						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		AACCTTTTGGGGACTTCTTTT	0.423																																						uc001pkj.2		NaN																	0				ovary(1)	1						c.(547-549)CCC>TCC		KDEL (Lys-Asp-Glu-Leu) containing 2 precursor		G	SER/PRO	0,3724		0,0,1862	169.0	154.0	159.0		547	4.7	1.0	11		159	3,8191		0,3,4094	yes	missense	KDELC2	NM_153705.4	74	0,3,5956	AA,AG,GG		0.0366,0.0,0.0252	probably-damaging	183/508	108357021	3,11915	1862	4097	5959	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108357021G>A	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.547C>T	11.37:g.108357021G>A	ENSP00000315386:p.Pro183Ser					KDELC2_uc001pki.2_Missense_Mutation_p.P127S	p.P183S	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	3	613	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	183					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.547C>T	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823917	0.90873	0.0	3.66E-4	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.21031	2.03;2.03;2.03	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	M	0.78049	2.395	0.80722	D	1	P;P	0.51240	0.943;0.93	P;P	0.52109	0.69;0.563	T	0.25467	-1.0131	10	0.44086	T	0.13	-15.7051	18.9021	0.92446	0.0:0.0:1.0:0.0	.	183;127	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	S	183;127;127	ENSP00000315386:P183S;ENSP00000413429:P127S;ENSP00000364799:P127S	ENSP00000315386:P183S	P	-	1	0	KDELC2	107862231	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	7.367000	0.79558	2.871000	0.98454	0.655000	0.94253	CCC		0.423	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1		NM_153705		67	76	0	0	0	0.01441	0	67	76		
PCSK7	9159	broad.mit.edu	37	11	117089803	117089803	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:117089803G>C	ENST00000320934.3	-	11	2031	c.1401C>G	c.(1399-1401)ctC>ctG	p.L467L	PCSK7_ENST00000540028.1_Silent_p.L108L	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	467	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCAGGCGTTGAGGAGGCCGA	0.602			T	IGH@	MLCLS																																	uc001pqr.2		NaN		Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0					0						c.(1399-1401)CTC>CTG		proprotein convertase subtilisin/kexin type 7							67.0	53.0	58.0					11																	117089803		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117089803G>C	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1401C>G	11.37:g.117089803G>C							p.L467L	NM_004716	NP_004707	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	11	1602	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	467			Catalytic.|Extracellular (Potential).		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.1401C>G	CCDS8382.1																																																																																				0.602	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2		NM_004716		25	17	0	0	0	0.009535	0	25	17		
DSCAML1	57453	broad.mit.edu	37	11	117392001	117392001	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:117392001C>T	ENST00000321322.6	-	6	1238	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E143K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	353	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCACCAGCTCCGTGTTGCGA	0.627																																						uc001prh.1		NaN																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1237-1239)GAG>AAG		Down syndrome cell adhesion molecule like 1							100.0	84.0	89.0					11																	117392001		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117392001C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1237G>A	11.37:g.117392001C>T	ENSP00000315465:p.Glu413Lys					DSCAML1_uc001pri.1_Missense_Mutation_p.E217K	p.E413K	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1239	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	353			Extracellular (Potential).|Ig-like C2-type 4.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1237G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391322	0.62066	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66638	-0.22;-0.22	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69324	0.3098	L	0.48935	1.535	0.80722	D	1	P;P	0.41710	0.76;0.689	P;P	0.50708	0.547;0.648	T	0.63346	-0.6658	9	0.15066	T	0.55	.	17.7518	0.88436	0.0:1.0:0.0:0.0	.	143;353	G3V1B5;Q8TD84	.;DSCL1_HUMAN	K	143;413;120	ENSP00000434335:E143K;ENSP00000315465:E413K	ENSP00000315465:E413K	E	-	1	0	DSCAML1	116897211	1.000000	0.71417	0.937000	0.37676	0.943000	0.58893	4.739000	0.62080	2.417000	0.82017	0.609000	0.83330	GAG		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693		100	81	0	0	0	0.01441	0	100	81		
VPS11	55823	broad.mit.edu	37	11	118948319	118948319	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:118948319C>T	ENST00000300793.6	+	10	1573	c.1531C>T	c.(1531-1533)Cat>Tat	p.H511Y	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	512					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CCATGCACATCATGAGTGGTA	0.517																																						uc010ryx.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1534-1536)CAT>TAT		vacuolar protein sorting 11							73.0	78.0	76.0					11																	118948319		2003	4170	6173	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118948319C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1531C>T	11.37:g.118948319C>T	ENSP00000475301:p.His511Tyr					VPS11_uc010ryy.1_Missense_Mutation_p.H358Y	p.H512Y	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	10	1576	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	512			Clathrin.		Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.1534C>T																																																																																					0.517	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_021729		8	14	0	0	0	0.004482	0	8	14		
H2AFX	3014	broad.mit.edu	37	11	118965872	118965872	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:118965872C>T	ENST00000530167.1	-	1	305	c.233G>A	c.(232-234)cGa>cAa	p.R78Q		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	78				R -> L (in Ref. 2; CAG33360). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GGGGATGATTCGCGTCTTCTT	0.682								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pvg.2		NaN																	0					0						c.(232-234)CGA>CAA	Chromatin_Structure|Direct_reversal_of_damage	H2A histone family, member X							87.0	86.0	86.0					11																	118965872		2200	4295	6495	SO:0001583	missense	3014				DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	g.chr11:118965872C>T	X14850	CCDS8410.1	11q23.3	2011-01-27						"""Histones / Replication-independent"""	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.233G>A	11.37:g.118965872C>T	ENSP00000434024:p.Arg78Gln		OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	H2AFX_uc001pvh.1_RNA	p.R78Q	NM_002105	NP_002096	P16104	H2AX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	306	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	78	R -> L (in Ref. 2; CAG33360).				Q4ZGJ7|Q6IAS5	Missense_Mutation	SNP	ENST00000530167.1	37	c.233G>A	CCDS8410.1	.	.	.	.	.	.	.	.	.	.	C	37	6.460887	0.97585	.	.	ENSG00000188486	ENST00000530167;ENST00000375167	T;T	0.69175	-0.38;-0.38	5.92	5.92	0.95590	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.64402	D	0.000007	D	0.89001	0.6591	H	0.97415	4	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.92136	0.5716	10	0.87932	D	0	.	19.2987	0.94134	0.0:1.0:0.0:0.0	.	78	P16104	H2AX_HUMAN	Q	78	ENSP00000434024:R78Q;ENSP00000364310:R78Q	ENSP00000364310:R78Q	R	-	2	0	H2AFX	118471082	1.000000	0.71417	0.968000	0.41197	0.971000	0.66376	7.684000	0.84104	2.809000	0.96659	0.655000	0.94253	CGA		0.682	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2		NM_002105		38	225	0	0	0	0.01441	0	38	225		
MCAM	4162	broad.mit.edu	37	11	119181614	119181614	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:119181614C>T	ENST00000264036.4	-	14	1660		c.e14-1		MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule						anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGCTTTCTCTCTGCGCCACAA	0.632																																						uc001pwf.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.e14-1		melanoma cell adhesion molecule							68.0	77.0	74.0					11																	119181614		2199	4295	6494	SO:0001630	splice_region_variant	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119181614C>T	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1646-1G>A	11.37:g.119181614C>T						MCAM_uc001pwg.1_Splice_Site	p.E549_splice	NM_006500	NP_006491	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	14	1675	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)						O95812|Q59E86|Q6PHR3|Q6ZTR2	Splice_Site	SNP	ENST00000264036.4	37	c.1646_splice	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204454	0.38905	.	.	ENSG00000076706	ENST00000264036	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4979	0.75669	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCAM	118686824	1.000000	0.71417	0.999000	0.59377	0.312000	0.27988	4.148000	0.58085	2.693000	0.91896	0.561000	0.74099	.		0.632	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			Intron	34	182	0	0	0	0.007835	0	34	182		
MCAM	4162	broad.mit.edu	37	11	119182861	119182861	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:119182861C>T	ENST00000264036.4	-	9	1058	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	MCAM_ENST00000392814.1_Silent_p.V297V|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	348	Ig-like C2-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGCGGGACTCACTCGGACGT	0.627																																						uc001pwf.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1042-1044)GTG>GTA		melanoma cell adhesion molecule							50.0	51.0	51.0					11																	119182861		2199	4295	6494	SO:0001819	synonymous_variant	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119182861C>T	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1044G>A	11.37:g.119182861C>T						MCAM_uc001pwg.1_5'Flank	p.V348V	NM_006500	NP_006491	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	9	1073	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	348			Ig-like C2-type 2.|Extracellular (Potential).		O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	ENST00000264036.4	37	c.1044G>A	CCDS31690.1																																																																																				0.627	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2				15	93	0	0	0	0.00499	0	15	93		
MCAM	4162	broad.mit.edu	37	11	119183625	119183625	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:119183625C>G	ENST00000264036.4	-	6	608	c.594G>C	c.(592-594)tcG>tcC	p.S198S	MCAM_ENST00000392814.1_Silent_p.S147S|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	198	Ig-like V-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ACAAACCACTCGACTCCACAG	0.562																																						uc001pwf.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(592-594)TCG>TCC		melanoma cell adhesion molecule							83.0	80.0	81.0					11																	119183625		2199	4295	6494	SO:0001819	synonymous_variant	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119183625C>G	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.594G>C	11.37:g.119183625C>G						MCAM_uc001pwg.1_5'Flank	p.S198S	NM_006500	NP_006491	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	6	623	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	198			Ig-like V-type 2.|Extracellular (Potential).		O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	ENST00000264036.4	37	c.594G>C	CCDS31690.1																																																																																				0.562	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2				18	94	0	0	0	0.008871	0	18	94		
PANX3	116337	broad.mit.edu	37	11	124489817	124489817	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:124489817G>C	ENST00000284288.2	+	4	1232	c.1165G>C	c.(1165-1167)Gat>Cat	p.D389H	TBRG1_ENST00000375005.4_5'Flank|TBRG1_ENST00000441174.3_5'Flank	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	389					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTCGGCATGTGATGAACACCC	0.418																																						uc001qah.2		NaN																	0					0						c.(1165-1167)GAT>CAT		pannexin 3							81.0	78.0	79.0					11																	124489817		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489817G>C	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.1165G>C	11.37:g.124489817G>C	ENSP00000284288:p.Asp389His					TBRG1_uc001qak.3_5'Flank|TBRG1_uc001qaj.3_5'Flank|TBRG1_uc001qal.3_5'Flank|TBRG1_uc001qam.3_5'Flank|TBRG1_uc009zbf.2_5'Flank|TBRG1_uc009zbg.2_5'Flank|TBRG1_uc001qai.1_5'Flank	p.D389H	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	1165	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	389			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000284288.2	37	c.1165G>C	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486970	0.63962	.	.	ENSG00000154143	ENST00000284288	T	0.21734	1.99	4.88	4.88	0.63580	.	0.184057	0.36740	N	0.002431	T	0.25082	0.0609	N	0.08118	0	0.37815	D	0.928163	D	0.89917	1.0	D	0.68765	0.96	T	0.31503	-0.9941	10	0.72032	D	0.01	-10.4148	13.3917	0.60827	0.0:0.0:1.0:0.0	.	389	Q96QZ0	PANX3_HUMAN	H	389	ENSP00000284288:D389H	ENSP00000284288:D389H	D	+	1	0	PANX3	123995027	0.998000	0.40836	0.965000	0.40720	0.631000	0.37964	3.091000	0.50199	2.532000	0.85374	0.561000	0.74099	GAT		0.418	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1				34	47	0	0	0	0.006999	0	34	47		
PKNOX2	63876	broad.mit.edu	37	11	125280125	125280125	+	Missense_Mutation	SNP	G	G	C	rs572689602		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:125280125G>C	ENST00000298282.9	+	8	893	c.622G>C	c.(622-624)Gga>Cga	p.G208R	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.G144R	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	208					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.G208R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TTCCATGTCCGGAGTCTCCAA	0.572																																						uc001qbu.2		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(3)	3						c.(622-624)GGA>CGA		PBX/knotted 1 homeobox 2							124.0	129.0	127.0					11																	125280125		2066	4220	6286	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125280125G>C	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.622G>C	11.37:g.125280125G>C	ENSP00000298282:p.Gly208Arg					PKNOX2_uc010saz.1_Missense_Mutation_p.G179R|PKNOX2_uc010sba.1_Missense_Mutation_p.G179R|PKNOX2_uc010sbb.1_Missense_Mutation_p.G144R|PKNOX2_uc001qbv.2_5'Flank	p.G208R	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	8	936	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	208					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.622G>C	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317008	0.60524	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.84516	-1.86;-1.86;-1.85;-1.85	5.62	5.62	0.85841	.	0.092956	0.44902	D	0.000403	T	0.80829	0.4698	L	0.32530	0.975	0.48288	D	0.999629	B;B	0.30542	0.284;0.199	B;B	0.32090	0.14;0.062	T	0.76683	-0.2869	10	0.30854	T	0.27	-6.3419	19.2564	0.93947	0.0:0.0:1.0:0.0	.	144;208	F5GZ15;Q96KN3	.;PKNX2_HUMAN	R	179;179;208;144;196	ENSP00000434732:G179R;ENSP00000433971:G179R;ENSP00000298282:G208R;ENSP00000441470:G144R	ENSP00000298282:G208R	G	+	1	0	PKNOX2	124785335	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.309000	0.43699	2.633000	0.89246	0.655000	0.94253	GGA		0.572	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3				108	217	0	0	0	0.01441	0	108	217		
JAM3	83700	broad.mit.edu	37	11	134010623	134010623	+	Missense_Mutation	SNP	G	G	A	rs370631910		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:134010623G>A	ENST00000299106.4	+	3	373	c.214G>A	c.(214-216)Gat>Aat	p.D72N	JAM3_ENST00000529443.2_Missense_Mutation_p.D117N|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Missense_Mutation_p.D72N			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	72	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GAAAATTCAAGATGAACAAAC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		16461	0.0		0.0	False		,,,				2504	0.001					uc001qhb.1		NaN																	0				ovary(1)	1						c.(349-351)GAT>AAT		junctional adhesion molecule 3 precursor							137.0	120.0	126.0					11																	134010623		2201	4297	6498	SO:0001583	missense	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134010623G>A	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.214G>A	11.37:g.134010623G>A	ENSP00000299106:p.Asp72Asn					JAM3_uc009zcz.1_Missense_Mutation_p.D117N	p.D117N	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	3	373	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	72			Extracellular (Potential).|Ig-like V-type.		B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	c.349G>A	CCDS8494.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.726|4.726	0.134931|0.134931	0.09032|0.09032	.|.	.|.	ENSG00000166086|ENSG00000166086	ENST00000299106;ENST00000441717|ENST00000531698;ENST00000529443	T|.	0.22539|.	1.95|.	5.68|5.68	1.8|1.8	0.24995|0.24995	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.497241|.	0.24368|.	N|.	0.039133|.	T|T	0.33381|0.33381	0.0861|0.0861	N|N	0.17631|0.17631	0.505|0.505	0.33984|0.33984	D|D	0.648276|0.648276	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.12156|.	0.007;0.007|.	T|T	0.40232|0.40232	-0.9574|-0.9574	10|5	0.08381|.	T|.	0.77|.	.|.	9.0264|9.0264	0.36232|0.36232	0.4762:0.0:0.5238:0.0|0.4762:0.0:0.5238:0.0	.|.	72;72|.	B3KWG9;Q9BX67|.	.;JAM3_HUMAN|.	N|K	117;72|76	ENSP00000395742:D72N|.	ENSP00000299106:D117N|.	D|R	+|+	1|2	0|0	JAM3|JAM3	133515833|133515833	0.352000|0.352000	0.24895|0.24895	0.981000|0.981000	0.43875|0.43875	0.930000|0.930000	0.56654|0.56654	1.122000|1.122000	0.31295|0.31295	0.351000|0.351000	0.24027|0.24027	-0.244000|-0.244000	0.11960|0.11960	GAT|AGA		0.438	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4		NM_032801		6	58	0	0	0	0.00308	0	6	58		
GLB1L2	89944	broad.mit.edu	37	11	134238561	134238561	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:134238561A>G	ENST00000535456.2	+	10	1101	c.913A>G	c.(913-915)Att>Gtt	p.I305V	GLB1L2_ENST00000339772.7_Missense_Mutation_p.I305V|GLB1L2_ENST00000389881.3_Missense_Mutation_p.I305V|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	305					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGTGTCTGCCATTGTGGACGC	0.532																																						uc001qhp.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(913-915)ATT>GTT		galactosidase, beta 1-like 2 precursor							81.0	77.0	79.0					11																	134238561		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134238561A>G		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.913A>G	11.37:g.134238561A>G	ENSP00000444628:p.Ile305Val					GLB1L2_uc009zdg.1_RNA	p.I305V	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	10	1101	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	305					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.913A>G	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.347|8.347	0.829997|0.829997	0.16749|0.16749	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000525089;ENST00000533324|ENST00000339772;ENST00000535456;ENST00000389881	.|D;D;D	.|0.97870	.|-4.58;-4.58;-4.58	5.19|5.19	2.84|2.84	0.33178|0.33178	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.310590	.|0.34178	.|N	.|0.004187	D|D	0.94159|0.94159	0.8126|0.8126	L|L	0.48986|0.48986	1.54|1.54	0.34009|0.34009	D|D	0.65126|0.65126	.|B	.|0.31893	.|0.345	.|B	.|0.33392	.|0.163	D|D	0.90863|0.90863	0.4740|0.4740	5|10	.|0.25751	.|T	.|0.34	-21.8868|-21.8868	3.1877|3.1877	0.06607|0.06607	0.5553:0.2105:0.2342:0.0|0.5553:0.2105:0.2342:0.0	.|.	.|305	.|Q8IW92	.|GLBL2_HUMAN	R|V	243;132|305	.|ENSP00000344659:I305V;ENSP00000444628:I305V;ENSP00000374531:I305V	.|ENSP00000344659:I305V	H|I	+|+	2|1	0|0	GLB1L2|GLB1L2	133743771|133743771	0.974000|0.974000	0.33945|0.33945	0.971000|0.971000	0.41717|0.41717	0.021000|0.021000	0.10359|0.10359	0.503000|0.503000	0.22610|0.22610	0.781000|0.781000	0.33589|0.33589	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.532	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2		NM_138342		12	72	0	0	0	0.001855	0	12	72		
IQSEC3	440073	broad.mit.edu	37	12	284199	284199	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:284199G>C	ENST00000538872.1	+	14	3667	c.3549G>C	c.(3547-3549)taG>taC	p.*1183Y	RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000537151.1_Intron|IQSEC3_ENST00000326261.4_Nonstop_Mutation_p.*1183Y			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	0					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCCTGGTGTAGACTCTGCCCC	0.692																																						uc001qhw.1		NaN																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(2638-2640)TAG>TAC		IQ motif and Sec7 domain 3							6.0	6.0	6.0					12																	284199		1403	3299	4702	SO:0001578	stop_lost	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:284199G>C	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.3549G>C	12.37:g.284199G>C	ENSP00000437554:p.*1183Tyrext*108						p.*880Y	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	11	2646	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		880			PH.		A6NIF2|A6NKV9|Q8TB43	Nonstop_Mutation	SNP	ENST00000538872.1	37	c.2640G>C	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	6.427	0.446954	0.12223	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	.	.	.	3.87	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9631	0.53019	0.1013:0.0:0.8987:0.0	.	.	.	.	Y	1183	.	.	X	+	3	2	IQSEC3	154460	1.000000	0.71417	0.966000	0.40874	0.395000	0.30598	4.224000	0.58593	2.029000	0.59856	0.298000	0.19748	TAG		0.692	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3		XM_495902		16	15	0	0	0	0.006122	0	16	15		
WNK1	65125	broad.mit.edu	37	12	862795	862795	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:862795G>T	ENST00000315939.6	+	1	707	c.64G>T	c.(64-66)Gct>Tct	p.A22S	WNK1_ENST00000537687.1_Missense_Mutation_p.A22S|WNK1_ENST00000535572.1_Missense_Mutation_p.A22S|WNK1_ENST00000530271.2_Missense_Mutation_p.A22S|WNK1_ENST00000447667.2_Missense_Mutation_p.A22S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	22					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTCGCCGCCGGCTCCTGCCCC	0.682																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NaN																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(64-66)GCT>TCT		WNK lysine deficient protein kinase 1							18.0	22.0	20.0					12																	862795		2199	4293	6492	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:862795G>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.64G>T	12.37:g.862795G>T	ENSP00000313059:p.Ala22Ser					WNK1_uc001qin.2_Missense_Mutation_p.A22S|WNK1_uc001qip.3_Missense_Mutation_p.A22S	p.A22S	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		1	571	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		22					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.64G>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537031	0.27475	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.70869	-0.42;-0.39;-0.39;-0.52;-0.39	3.76	1.89	0.25635	.	0.285831	0.24745	N	0.035956	T	0.51534	0.1680	L	0.28274	0.84	0.80722	D	1	B;B;B	0.15141	0.011;0.012;0.012	B;B;B	0.14023	0.009;0.01;0.008	T	0.42155	-0.9468	10	0.56958	D	0.05	-7.6954	4.1879	0.10407	0.222:0.1915:0.5865:0.0	.	22;22;22	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	S	22	ENSP00000441972:A22S;ENSP00000313059:A22S;ENSP00000444465:A22S;ENSP00000392542:A22S;ENSP00000433548:A22S	ENSP00000313059:A22S	A	+	1	0	WNK1	733056	1.000000	0.71417	0.996000	0.52242	0.760000	0.43138	2.051000	0.41307	0.375000	0.24679	0.305000	0.20034	GCT		0.682	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979		20	37	1	0	1.10923e-09	0.00278	1.15626e-09	20	37		
NRIP2	83714	broad.mit.edu	37	12	2944040	2944040	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:2944040G>A	ENST00000337508.4	-	1	150	c.110C>T	c.(109-111)cCc>cTc	p.P37L		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	37					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTCGGTGGGGGCGTCACCGA	0.632																																						uc001qlc.2		NaN																	0				ovary(1)	1						c.(109-111)CCC>CTC		nuclear receptor interacting protein 2							65.0	60.0	62.0					12																	2944040		2203	4300	6503	SO:0001583	missense	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2944040G>A	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.110C>T	12.37:g.2944040G>A	ENSP00000337501:p.Pro37Leu					NRIP2_uc010sed.1_Missense_Mutation_p.P37L|uc009zdz.1_5'Flank	p.P37L	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		1	182	-			37					A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	c.110C>T	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660167	0.29515	.	.	ENSG00000053702	ENST00000337508;ENST00000546074	.	.	.	3.88	-4.44	0.03557	.	6.443430	0.00610	N	0.000419	T	0.24586	0.0596	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09818	-1.0657	9	0.37606	T	0.19	8.2326	1.6637	0.02797	0.1148:0.2107:0.3187:0.3559	.	37	Q9BQI9	NRIP2_HUMAN	L	37	.	ENSP00000337501:P37L	P	-	2	0	NRIP2	2814301	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.720000	0.04969	-0.427000	0.07350	-0.439000	0.05793	CCC		0.632	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4		NM_031474		44	94	0	0	0	0.011902	0	44	94		
C1S	716	broad.mit.edu	37	12	7175803	7175803	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:7175803G>A	ENST00000406697.1	+	14	1867	c.1239G>A	c.(1237-1239)gtG>gtA	p.V413V	C1S_ENST00000360817.5_Silent_p.V413V|C1S_ENST00000402681.3_Silent_p.V246V|C1S_ENST00000328916.3_Silent_p.V413V|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	413	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGAATGAGGTGCTGGGCCCGG	0.552																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2		NaN																	0				skin(1)	1						c.(1237-1239)GTG>GTA		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						242.0	188.0	206.0					12																	7175803		2203	4300	6503	SO:0001819	synonymous_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7175803G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1239G>A	12.37:g.7175803G>A						C1S_uc001qsk.2_Silent_p.V413V|C1S_uc001qsl.2_Silent_p.V413V|C1S_uc009zfr.2_Silent_p.V246V|C1S_uc009zfs.2_RNA	p.V413V	NM_201442	NP_958850	P09871	C1S_HUMAN			14	1958	+			413			Sushi 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	c.1239G>A	CCDS31735.1																																																																																				0.552	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1		NM_001734		44	106	0	0	0	0.01441	0	44	106		
A2M	2	broad.mit.edu	37	12	9242527	9242527	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:9242527C>G	ENST00000318602.7	-	21	2996	c.2689G>C	c.(2689-2691)Gac>Cac	p.D897H		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	897					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	ATGACTGTGTCTTTCCTTCCG	0.378																																						uc001qvk.1		NaN																	0				central_nervous_system(4)|skin(1)	5						c.(2689-2691)GAC>CAC		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						71.0	68.0	69.0					12																	9242527		1870	4102	5972	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9242527C>G	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2689G>C	12.37:g.9242527C>G	ENSP00000323929:p.Asp897His					A2M_uc009zgk.1_Missense_Mutation_p.D747H	p.D897H	NM_000014	NP_000005	P01023	A2MG_HUMAN			21	2802	-			897					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2689G>C	CCDS44827.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.116842|4.116842	0.77323|0.77323	.|.	.|.	ENSG00000175899|ENSG00000175899	ENST00000318602;ENST00000540099|ENST00000543436	T|T	0.57107|0.34472	0.42|1.36	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74884|0.74884	0.3775|0.3775	H|H	0.97415|0.97415	4|4	0.53688|0.53688	D|D	0.999977|0.999977	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.83287|0.83287	-0.0035|-0.0035	10|7	0.87932|0.56958	D|D	0|0.05	.|.	18.364|18.364	0.90384|0.90384	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	897|.	P01023|.	A2MG_HUMAN|.	H|N	897;912|144	ENSP00000323929:D897H|ENSP00000443302:K144N	ENSP00000323929:D897H|ENSP00000443302:K144N	D|K	-|-	1|3	0|2	A2M|A2M	9133794|9133794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	7.101000|7.101000	0.76997|0.76997	2.674000|2.674000	0.91012|0.91012	0.655000|0.655000	0.94253|0.94253	GAC|AAG		0.378	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2		NM_000014		16	42	0	0	0	0.00499	0	16	42		
MANSC1	54682	broad.mit.edu	37	12	12483694	12483694	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:12483694A>G	ENST00000535902.1	-	4	1126	c.563T>C	c.(562-564)aTg>aCg	p.M188T	MANSC1_ENST00000396349.3_Missense_Mutation_p.M154T|MANSC1_ENST00000545735.1_Missense_Mutation_p.M107T			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	188						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TGCTTCATCCATCTTAAATAG	0.418																																						uc001rai.1		NaN																	0					0						c.(562-564)ATG>ACG		MANSC domain containing 1 precursor							74.0	75.0	75.0					12																	12483694		2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12483694A>G	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.563T>C	12.37:g.12483694A>G	ENSP00000438205:p.Met188Thr					MANSC1_uc010shm.1_Missense_Mutation_p.M122T|MANSC1_uc001raj.1_Missense_Mutation_p.M154T|MANSC1_uc009zht.1_Missense_Mutation_p.M107T	p.M188T	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	821	-		Prostate(47;0.0865)	188			Extracellular (Potential).		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.563T>C	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	A	0.333	-0.955126	0.02285	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.21031	2.35;2.35;2.03	5.03	-4.65	0.03339	.	1.824160	0.03011	N	0.149400	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.20773	-1.0265	10	0.31617	T	0.26	-4.8219	1.847	0.03161	0.2529:0.3448:0.279:0.1234	.	122;154;188	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	T	188;154;107;107	ENSP00000438205:M188T;ENSP00000379638:M154T;ENSP00000445303:M107T	ENSP00000347765:M107T	M	-	2	0	MANSC1	12374961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.081000	0.11321	-0.398000	0.07679	-0.415000	0.06103	ATG		0.418	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1		NM_018050		21	38	0	0	0	0.004656	0	21	38		
SLCO1A2	6579	broad.mit.edu	37	12	21453315	21453315	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:21453315C>T	ENST00000307378.6	-	9	1597	c.877G>A	c.(877-879)Gag>Aag	p.E293K	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E161K|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E293K|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E291K|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E161K	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	293					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 membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTCTTGACCTCTTCTTTTTGT	0.299																																						uc001rer.2		NaN																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(877-879)GAG>AAG		organic anion transporting polypeptide A							94.0	96.0	96.0					12																	21453315		2202	4300	6502	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21453315C>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.877G>A	12.37:g.21453315C>T	ENSP00000305974:p.Glu293Lys					SLCO1A2_uc001res.2_Missense_Mutation_p.E293K|SLCO1A2_uc010siq.1_Missense_Mutation_p.E161K|SLCO1A2_uc010sio.1_Missense_Mutation_p.E161K|SLCO1A2_uc010sip.1_Missense_Mutation_p.E161K|SLCO1A2_uc001ret.2_Missense_Mutation_p.E291K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E273K	p.E293K	NM_021094	NP_066580	P46721	SO1A2_HUMAN			7	1128	-			293			Cytoplasmic (Potential).		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.877G>A	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	4.014	-0.000084	0.07819	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.42	0.377	0.16198	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.474300	0.01153	N	0.006475	T	0.19685	0.0473	N	0.05199	-0.095	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.10450	0.003;0.003;0.005	T	0.26155	-1.0111	10	0.05351	T	0.99	.	5.1128	0.14819	0.0:0.4899:0.1388:0.3713	.	273;291;293	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	K	293;293;161;161;291	ENSP00000305974:E293K;ENSP00000393973:E293K;ENSP00000394854:E161K;ENSP00000439401:E161K;ENSP00000375088:E291K	ENSP00000305974:E293K	E	-	1	0	SLCO1A2	21344582	0.026000	0.19158	0.000000	0.03702	0.091000	0.18340	0.724000	0.25954	0.057000	0.16193	0.462000	0.41574	GAG		0.299	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3		NM_021094		3	15	0	0	0	0.009096	0	3	15		
SLCO1A2	6579	broad.mit.edu	37	12	21453473	21453473	+	Missense_Mutation	SNP	C	C	T	rs371960486		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:21453473C>T	ENST00000307378.6	-	9	1439	c.719G>A	c.(718-720)cGt>cAt	p.R240H	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.R108H|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.R240H|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.R238H|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.R108H	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	240					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 membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACCGACCCAACGAGTGTCAGT	0.383																																						uc001rer.2		NaN																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(718-720)CGT>CAT		organic anion transporting polypeptide A		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	73.0	63.0	66.0		719,719	5.6	1.0	12		66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLCO1A2	NM_021094.3,NM_134431.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	240/671,240/671	21453473	1,13005	2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21453473C>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.719G>A	12.37:g.21453473C>T	ENSP00000305974:p.Arg240His					SLCO1A2_uc001res.2_Missense_Mutation_p.R240H|SLCO1A2_uc010siq.1_Missense_Mutation_p.R108H|SLCO1A2_uc010sio.1_Missense_Mutation_p.R108H|SLCO1A2_uc010sip.1_Missense_Mutation_p.R108H|SLCO1A2_uc001ret.2_Missense_Mutation_p.R238H|SLCO1A2_uc001reu.2_Missense_Mutation_p.R220H	p.R240H	NM_021094	NP_066580	P46721	SO1A2_HUMAN			7	970	-			240			Extracellular (Potential).		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.719G>A	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209820	0.95069	0.0	1.16E-4	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	H	0.95679	3.705	0.51482	D	0.999926	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	D	0.85634	0.1272	10	0.87932	D	0	.	19.5156	0.95162	0.0:1.0:0.0:0.0	.	220;238;240	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	H	240;240;108;108;238	ENSP00000305974:R240H;ENSP00000393973:R240H;ENSP00000394854:R108H;ENSP00000439401:R108H;ENSP00000375088:R238H	ENSP00000305974:R240H	R	-	2	0	SLCO1A2	21344740	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.116000	0.77119	2.605000	0.88082	0.563000	0.77884	CGT		0.383	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3		NM_021094		3	25	0	0	0	0.004672	0	3	25		
STK38L	23012	broad.mit.edu	37	12	27470859	27470859	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:27470859A>G	ENST00000389032.3	+	11	1155	c.986A>G	c.(985-987)cAa>cGa	p.Q329R	STK38L_ENST00000539577.1_Missense_Mutation_p.Q236R	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GAAACACCTCAAGAAACGTAC	0.383																																						uc001rhr.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5						c.(985-987)CAA>CGA		serine/threonine kinase 38 like							63.0	63.0	63.0					12																	27470859		2203	4300	6503	SO:0001583	missense	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27470859A>G	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.986A>G	12.37:g.27470859A>G	ENSP00000373684:p.Gln329Arg					STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Missense_Mutation_p.Q236R|STK38L_uc010sjn.1_Missense_Mutation_p.Q67R|STK38L_uc010sjo.1_5'UTR	p.Q329R	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN			11	1185	+	Colorectal(261;0.0847)		329			Protein kinase.			Missense_Mutation	SNP	ENST00000389032.3	37	c.986A>G	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654752	0.47467	.	.	ENSG00000211455	ENST00000389032;ENST00000539577	T;T	0.41400	1.0;1.0	4.65	4.65	0.58169	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	0.31734	0.0806	N	0.17248	0.465	0.80722	D	1	B;B	0.27700	0.186;0.151	B;B	0.36766	0.168;0.232	T	0.10497	-1.0627	10	0.17832	T	0.49	.	15.1411	0.72612	1.0:0.0:0.0:0.0	.	236;329	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	R	329;236	ENSP00000373684:Q329R;ENSP00000446386:Q236R	ENSP00000373684:Q329R	Q	+	2	0	STK38L	27362126	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.071000	0.93980	2.313000	0.78055	0.455000	0.32223	CAA		0.383	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1		NM_015000		11	21	0	0	0	0.013537	0	11	21		
DENND5B	160518	broad.mit.edu	37	12	31632937	31632937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:31632937C>A	ENST00000389082.5	-	3	754	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	DENND5B_ENST00000354285.4_Nonsense_Mutation_p.E186*|DENND5B_ENST00000306833.6_Nonsense_Mutation_p.E199*|DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000536562.1_Nonsense_Mutation_p.E199*	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	164					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTATCTCCTTCATCAAGACTA	0.423																																						uc001rki.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(490-492)GAA>TAA		DENN/MADD domain containing 5B							144.0	139.0	141.0					12																	31632937		2016	4192	6208	SO:0001587	stop_gained	160518					integral to membrane		g.chr12:31632937C>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.490G>T	12.37:g.31632937C>A	ENSP00000373734:p.Glu164*					DENND5B_uc001rkh.1_Nonsense_Mutation_p.E199*|DENND5B_uc009zjq.1_Nonsense_Mutation_p.E83*|DENND5B_uc001rkj.2_Nonsense_Mutation_p.E186*|DENND5B_uc001rkk.1_Nonsense_Mutation_p.E86*	p.E164*	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			3	676	-			164					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Nonsense_Mutation	SNP	ENST00000389082.5	37	c.490G>T	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110274	0.56398	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	.	.	.	4.65	3.76	0.43208	.	0.132949	0.49305	D	0.000147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-11.5887	12.9324	0.58294	0.0:0.9215:0.0:0.0785	.	.	.	.	X	164;199;199;186;116	.	ENSP00000306482:E199X	E	-	1	0	DENND5B	31524204	0.964000	0.33143	0.118000	0.21660	0.773000	0.43773	4.134000	0.57990	1.182000	0.42928	0.655000	0.94253	GAA		0.423	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		40	79	1	0	1.76056e-25	0.011902	1.90193e-25	40	79		
KMT2D	8085	broad.mit.edu	37	12	49443747	49443747	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:49443747G>C	ENST00000301067.7	-	11	3623	c.3624C>G	c.(3622-3624)atC>atG	p.I1208M		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1208					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)	p.I935I(1)|p.I1208I(1)									TCAGATTAGAGATCTCGTTAA	0.607																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		2	Substitution - coding silent(2)		kidney(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3622-3624)ATC>ATG		myeloid/lymphoid or mixed-lineage leukemia 2							48.0	53.0	51.0					12																	49443747		1982	4160	6142	SO:0001583	missense	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.chr12:49443747G>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.3624C>G	12.37:g.49443747G>C	ENSP00000301067:p.Ile1208Met	HNSCC(34;0.089)					p.I1208M	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3624	-			1208					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.3624C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	9.306	1.054319	0.19907	.	.	ENSG00000167548	ENST00000301067	D	0.81908	-1.55	5.53	3.71	0.42584	.	0.000000	0.39210	N	0.001430	T	0.68604	0.3019	N	0.14661	0.345	0.28665	N	0.905932	P	0.35272	0.493	B	0.32928	0.155	T	0.65307	-0.6200	10	0.87932	D	0	.	10.839	0.46704	0.1543:0.0:0.8457:0.0	.	1208	O14686	MLL2_HUMAN	M	1208	ENSP00000301067:I1208M	ENSP00000301067:I1208M	I	-	3	3	MLL2	47730014	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.802000	0.38853	0.701000	0.31803	0.655000	0.94253	ATC		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				26	43	0	0	0	0.004656	0	26	43		
LMBR1L	55716	broad.mit.edu	37	12	49494208	49494208	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:49494208G>A	ENST00000267102.8	-	15	1545	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	LMBR1L_ENST00000547382.1_Silent_p.V381V|LMBR1L_ENST00000395141.4_Silent_p.V396V	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	401					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTGAGCTTAGGACCAGGAGAC	0.498																																						uc001rth.3		NaN																	0				pancreas(1)	1						c.(1201-1203)GTC>GTT		lipocalin-interacting membrane receptor							139.0	144.0	143.0					12																	49494208		2203	4300	6503	SO:0001819	synonymous_variant	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49494208G>A	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.1203C>T	12.37:g.49494208G>A						LMBR1L_uc001rtg.3_Silent_p.V396V|LMBR1L_uc001rti.3_Silent_p.V381V	p.V401V	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN			15	1545	-			401			Helical; (Potential).		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	c.1203C>T	CCDS8780.2																																																																																				0.498	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1		NM_018113		49	105	0	0	0	0.01441	0	49	105		
TROAP	10024	broad.mit.edu	37	12	49724323	49724323	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:49724323G>T	ENST00000257909.3	+	13	1771	c.1695G>T	c.(1693-1695)gaG>gaT	p.E565D	TROAP_ENST00000551245.1_Missense_Mutation_p.E565D|TROAP_ENST00000547923.1_Missense_Mutation_p.E273D	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	565	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTGAGCCTGAGATACCGGAGT	0.592																																						uc001rtx.3		NaN																	0				ovary(1)	1						c.(1693-1695)GAG>GAT		tastin isoform 1							70.0	68.0	69.0					12																	49724323		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724323G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1695G>T	12.37:g.49724323G>T	ENSP00000257909:p.Glu565Asp					TROAP_uc009zlh.2_Missense_Mutation_p.E565D|TROAP_uc001rty.2_Missense_Mutation_p.E273D	p.E565D	NM_005480	NP_005471	Q12815	TROAP_HUMAN			13	1862	+			565			4 X 33 AA approximate tandem repeats.|Cys-rich.|2.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1695G>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	6.035	0.374865	0.11409	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	3.06	-1.07	0.09968	.	.	.	.	.	T	0.26011	0.0634	N	0.22421	0.69	0.09310	N	1	B;B;B	0.29955	0.263;0.263;0.263	B;B;B	0.35353	0.201;0.201;0.047	T	0.34527	-0.9825	8	0.13853	T	0.58	.	7.4997	0.27511	0.4947:0.0:0.5053:0.0	.	565;273;565	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	D	565;565;273	.	ENSP00000257909:E565D	E	+	3	2	TROAP	48010590	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.432000	0.06956	-0.682000	0.05197	-0.657000	0.03884	GAG		0.592	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1		NM_005480		15	56	1	0	4.14922e-12	0.004007	4.37632e-12	15	56		
NCKAP5L	57701	broad.mit.edu	37	12	50189089	50189089	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:50189089C>T	ENST00000335999.6	-	8	2755	c.2554G>A	c.(2554-2556)Gac>Aac	p.D852N		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	848	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTACCACAGTCTGCCCAGGGA	0.647																																						uc009zlk.2		NaN																	0				central_nervous_system(1)	1						c.(2554-2556)GAC>AAC		NCK-associated protein 5-like							88.0	92.0	91.0					12																	50189089		1929	4120	6049	SO:0001583	missense	57701							g.chr12:50189089C>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2554G>A	12.37:g.50189089C>T	ENSP00000337998:p.Asp852Asn					NCKAP5L_uc001rvc.3_Missense_Mutation_p.D56N|NCKAP5L_uc001rvb.2_Missense_Mutation_p.D445N	p.D852N	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			8	2756	-			848			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.2554G>A	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.30|15.30	2.792191|2.792191	0.50102|0.50102	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000335999;ENST00000354423|ENST00000433948	T|.	0.44482|.	0.92|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.154127|.	0.30620|.	N|.	0.009238|.	T|T	0.54759|0.54759	0.1878|0.1878	L|L	0.36672|0.36672	1.1|1.1	0.37959|0.37959	D|D	0.932893|0.932893	P;B;P|.	0.50272|.	0.933;0.361;0.933|.	P;B;P|.	0.51324|.	0.548;0.214;0.666|.	T|T	0.55611|0.55611	-0.8114|-0.8114	10|5	0.32370|.	T|.	0.25|.	-12.3227|-12.3227	11.4517|11.4517	0.50156|0.50156	0.0:0.9153:0.0:0.0847|0.0:0.9153:0.0:0.0847	.|.	826;848;848|.	E2QRB5;Q9HCH0;Q9HCH0-2|.	.;NCK5L_HUMAN;.|.	N|K	852;826|566	ENSP00000337998:D852N|.	ENSP00000337998:D852N|.	D|R	-|-	1|2	0|0	NCKAP5L|NCKAP5L	48475356|48475356	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.804000|0.804000	0.45430|0.45430	2.325000|2.325000	0.43840|0.43840	2.601000|2.601000	0.87937|0.87937	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.647	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2		XM_035497		32	146	0	0	0	0.00623	0	32	146		
LIMA1	51474	broad.mit.edu	37	12	50615999	50615999	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:50615999G>C	ENST00000341247.4	-	4	584	c.435C>G	c.(433-435)atC>atG	p.I145M	LIMA1_ENST00000552823.1_De_novo_Start_InFrame|LIMA1_ENST00000552008.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552783.1_De_novo_Start_InFrame|LIMA1_ENST00000394943.3_Missense_Mutation_p.I145M|LIMA1_ENST00000552909.1_De_novo_Start_InFrame	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	145					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CACCGTCCTTGATGTGGGGAT	0.453																																						uc001rwj.3		NaN																	0				ovary(1)	1						c.(433-435)ATC>ATG		LIM domain and actin binding 1 isoform b							182.0	143.0	156.0					12																	50615999		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50615999G>C	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.435C>G	12.37:g.50615999G>C	ENSP00000340184:p.Ile145Met					LIMA1_uc001rwh.3_Translation_Start_Site|LIMA1_uc001rwi.3_Translation_Start_Site|LIMA1_uc001rwk.3_Missense_Mutation_p.I145M|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.I145M	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			4	609	-			145					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.435C>G	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662545	0.29515	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000420992	D;T	0.84660	-1.88;-1.15	5.87	-4.11	0.03928	.	1.941310	0.02136	N	0.056762	T	0.74898	0.3777	L	0.40543	1.245	0.19775	N	0.99996	B;B	0.31790	0.34;0.34	B;B	0.24701	0.055;0.055	T	0.60875	-0.7176	10	0.51188	T	0.08	.	2.9054	0.05719	0.4184:0.1802:0.3064:0.095	.	154;145	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	M	145;145;64	ENSP00000378400:I145M;ENSP00000340184:I145M	ENSP00000340184:I145M	I	-	3	3	LIMA1	48902266	0.000000	0.05858	0.000000	0.03702	0.845000	0.48019	-0.512000	0.06313	-0.751000	0.04734	0.655000	0.94253	ATC		0.453	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357		11	53	0	0	0	0.010729	0	11	53		
LIMA1	51474	broad.mit.edu	37	12	50616215	50616215	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:50616215C>T	ENST00000341247.4	-	4	368	c.219G>A	c.(217-219)aaG>aaA	p.K73K	LIMA1_ENST00000552823.1_5'Flank|LIMA1_ENST00000552008.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Silent_p.K73K|LIMA1_ENST00000552909.1_5'Flank	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	73					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCCACTTCTTCTTTAACACAG	0.498																																						uc001rwj.3		NaN																	0				ovary(1)	1						c.(217-219)AAG>AAA		LIM domain and actin binding 1 isoform b							97.0	97.0	97.0					12																	50616215		2203	4300	6503	SO:0001819	synonymous_variant	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50616215C>T	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.219G>A	12.37:g.50616215C>T						LIMA1_uc001rwh.3_5'UTR|LIMA1_uc001rwi.3_5'UTR|LIMA1_uc001rwk.3_Silent_p.K73K|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.K73K	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			4	393	-			73					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	37	c.219G>A	CCDS8802.1																																																																																				0.498	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357		58	89	0	0	0	0.01441	0	58	89		
ATF1	466	broad.mit.edu	37	12	51207891	51207891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:51207891C>T	ENST00000262053.3	+	5	449	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	ATF1_ENST00000539132.1_Nonsense_Mutation_p.Q8*	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	143					cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	AGGCAGTACTCAGCAAGGTAC	0.468			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																	uc001rww.3		NaN		Dom	yes		12	12q13	466	T	activating transcription factor 1			"""E, M"""	EWSR1|FUS		malignant melanoma of soft parts |angiomatoid fibrous histiocytoma 	EWSR1/ATF1(323)|FUS/ATF1(4)	0				soft_tissue(321)|ovary(2)|NS(2)|bone(2)|skin(2)	329						c.(427-429)CAG>TAG		activating transcription factor 1							107.0	96.0	100.0					12																	51207891		2203	4300	6503	SO:0001587	stop_gained	466				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway			g.chr12:51207891C>T	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.427C>T	12.37:g.51207891C>T	ENSP00000262053:p.Gln143*					ATF1_uc010smu.1_Nonsense_Mutation_p.Q8*	p.Q143*	NM_005171	NP_005162	P18846	ATF1_HUMAN			5	705	+			143					B4DRF9|P25168|Q9H4A8	Nonsense_Mutation	SNP	ENST00000262053.3	37	c.427C>T	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676489	0.67928	.	.	ENSG00000123268	ENST00000552510;ENST00000262053;ENST00000539132;ENST00000552487	.	.	.	4.93	4.02	0.46733	.	0.098275	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-18.1939	13.3802	0.60762	0.0:0.9186:0.0:0.0814	.	.	.	.	X	143;143;8;143	.	ENSP00000262053:Q143X	Q	+	1	0	ATF1	49494158	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.535000	0.82014	2.463000	0.83235	0.561000	0.74099	CAG		0.468	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1		NM_005171		14	63	0	0	0	0.001855	0	14	63		
NCKAP1L	3071	broad.mit.edu	37	12	54920519	54920519	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:54920519C>T	ENST00000293373.6	+	21	2443	c.2364C>T	c.(2362-2364)ctC>ctT	p.L788L	NCKAP1L_ENST00000545638.2_Silent_p.L738L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	788					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCACCACACTCTACACAAACT	0.512																																						uc001sgc.3		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(2362-2364)CTC>CTT		NCK-associated protein 1-like							109.0	89.0	96.0					12																	54920519		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54920519C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2364C>T	12.37:g.54920519C>T						NCKAP1L_uc010sox.1_Silent_p.L330L|NCKAP1L_uc010soy.1_Silent_p.L738L	p.L788L	NM_005337	NP_005328	P55160	NCKPL_HUMAN			21	2443	+			788					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.2364C>T	CCDS31813.1																																																																																				0.512	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1		NM_005337		15	20	0	0	0	0.004007	0	15	20		
STAT2	6773	broad.mit.edu	37	12	56749506	56749506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:56749506G>A	ENST00000314128.4	-	4	390	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	STAT2_ENST00000557235.1_Nonsense_Mutation_p.Q119*|STAT2_ENST00000418572.2_Nonsense_Mutation_p.Q119*			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	123					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGGGCCCTCTGAGCCTGGATC	0.453																																						uc001slc.2		NaN																	0				ovary(1)|lung(1)|kidney(1)	3						c.(367-369)CAG>TAG		signal transducer and activator of transcription							130.0	134.0	132.0					12																	56749506		2203	4300	6503	SO:0001587	stop_gained	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56749506G>A	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.367C>T	12.37:g.56749506G>A	ENSP00000315768:p.Gln123*					STAT2_uc001sld.2_Nonsense_Mutation_p.Q119*|STAT2_uc010sqn.1_Nonsense_Mutation_p.Q119*	p.Q123*	NM_005419	NP_005410	P52630	STAT2_HUMAN			4	445	-			123					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Nonsense_Mutation	SNP	ENST00000314128.4	37	c.367C>T	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365614	0.82463	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	.	.	.	5.18	4.28	0.50868	.	0.611875	0.17238	N	0.181663	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-8.4419	11.8074	0.52163	0.0:0.1762:0.8238:0.0	.	.	.	.	X	123;119;123;119	.	ENSP00000315768:Q123X	Q	-	1	0	STAT2	55035773	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.114000	0.41911	1.527000	0.49086	0.561000	0.74099	CAG		0.453	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1		NM_005419		44	74	0	0	0	0.01441	0	44	74		
STAC3	246329	broad.mit.edu	37	12	57638146	57638146	+	Silent	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:57638146T>A	ENST00000332782.2	-	10	1011	c.810A>T	c.(808-810)ccA>ccT	p.P270P	STAC3_ENST00000546246.2_Silent_p.P84P|STAC3_ENST00000554578.1_Silent_p.P231P	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	270	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TCTTCTCTCCTGGCCTGGGAG	0.587											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001snp.2		NaN																	0				ovary(2)|skin(1)	3						c.(808-810)CCA>CCT		SH3 and cysteine rich domain 3							73.0	67.0	69.0					12																	57638146		2203	4300	6503	SO:0001819	synonymous_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57638146T>A	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.810A>T	12.37:g.57638146T>A			OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Silent_p.P231P|STAC3_uc010srm.1_Silent_p.P84P	p.P270P	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			10	1005	-			270			SH3 1.		B4DUK9|Q96HU5	Silent	SNP	ENST00000332782.2	37	c.810A>T	CCDS8936.1																																																																																				0.587	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2		NM_145064		19	71	0	0	0	0.010504	0	19	71		
C12orf56	115749	broad.mit.edu	37	12	64784273	64784273	+	Missense_Mutation	SNP	G	G	T	rs377465987		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:64784273G>T	ENST00000543942.2	-	1	699	c.73C>A	c.(73-75)Ctg>Atg	p.L25M	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.L25M	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	25										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TCGGGCGGCAGATGCCGCCGC	0.682																																						uc001ssa.3		NaN																	0					0						c.(73-75)CTG>ATG		hypothetical protein LOC115749							28.0	32.0	31.0					12																	64784273		1933	4125	6058	SO:0001583	missense	115749							g.chr12:64784273G>T		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.73C>A	12.37:g.64784273G>T	ENSP00000446101:p.Leu25Met					uc001srx.2_Intron	p.L25M	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	1	73	-			25						Missense_Mutation	SNP	ENST00000543942.2	37	c.73C>A		.	.	.	.	.	.	.	.	.	.	G	10.22	1.291024	0.23564	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716;ENST00000543259	.	.	.	4.19	2.35	0.29111	.	0.221635	0.29932	N	0.010828	T	0.54498	0.1862	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.38478	-0.9659	8	.	.	.	-4.5434	6.6521	0.22967	0.2212:0.0:0.7788:0.0	.	25	Q8IXR9-2	.	M	25;25;25;12	.	.	L	-	1	2	C12orf56	63070540	0.986000	0.35501	0.007000	0.13788	0.013000	0.08279	0.645000	0.24782	0.514000	0.28300	-0.680000	0.03767	CTG		0.682	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2		NM_001099676		29	46	1	0	9.65021e-13	0.010818	1.01935e-12	29	46		
IRAK3	11213	broad.mit.edu	37	12	66605248	66605248	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:66605248C>G	ENST00000261233.4	+	5	880	c.459C>G	c.(457-459)atC>atG	p.I153M	IRAK3_ENST00000457197.2_Missense_Mutation_p.I92M	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AATCTTCCATCAGCTTTCAAA	0.343																																						uc001sth.2		NaN																	0				lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(457-459)ATC>ATG		interleukin-1 receptor-associated kinase 3							58.0	57.0	57.0					12																	66605248		2202	4298	6500	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66605248C>G	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.459C>G	12.37:g.66605248C>G	ENSP00000261233:p.Ile153Met					IRAK3_uc010ssy.1_Missense_Mutation_p.I92M	p.I153M	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	5	561	+			153						Missense_Mutation	SNP	ENST00000261233.4	37	c.459C>G	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608481	0.46527	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.35421	1.31;1.31	5.94	5.04	0.67666	.	0.116646	0.56097	N	0.000037	T	0.45856	0.1363	L	0.29908	0.895	0.43683	D	0.996124	D;D	0.76494	0.999;0.998	D;D	0.73380	0.98;0.921	T	0.33085	-0.9882	9	.	.	.	-11.3632	13.2084	0.59811	0.0:0.8406:0.1594:0.0	.	92;153	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	M	153;92	ENSP00000261233:I153M;ENSP00000409852:I92M	.	I	+	3	3	IRAK3	64891515	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	0.686000	0.25392	1.500000	0.48636	0.557000	0.71058	ATC		0.343	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1				10	14	0	0	0	0.010729	0	10	14		
FRS2	10818	broad.mit.edu	37	12	69968139	69968139	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:69968139G>A	ENST00000550389.1	+	7	1177	c.931G>A	c.(931-933)Ggg>Agg	p.G311R	FRS2_ENST00000299293.2_Missense_Mutation_p.G311R|FRS2_ENST00000397997.2_Missense_Mutation_p.G311R|FRS2_ENST00000549921.1_Missense_Mutation_p.G311R	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	311					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AAATATAAATGGGCTATCTAT	0.458																																						uc001suy.2		NaN																	0				prostate(1)|kidney(1)	2						c.(931-933)GGG>AGG		fibroblast growth factor receptor substrate 2							74.0	74.0	74.0					12																	69968139		1923	4124	6047	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968139G>A	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.931G>A	12.37:g.69968139G>A	ENSP00000447241:p.Gly311Arg					FRS2_uc001suz.2_Missense_Mutation_p.G311R|FRS2_uc009zrj.2_Missense_Mutation_p.G311R|FRS2_uc009zrk.2_Missense_Mutation_p.G311R	p.G311R	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1441	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		311					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.931G>A	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.272125	0.40194	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	6.04	6.04	0.98038	.	0.309039	0.32401	N	0.006148	T	0.27027	0.0662	L	0.47190	1.495	0.45250	D	0.998257	B	0.09022	0.002	B	0.11329	0.006	T	0.04216	-1.0968	9	.	.	.	-19.6021	11.5124	0.50500	0.1064:0.0:0.8936:0.0	.	311	Q8WU20	FRS2_HUMAN	R	311	ENSP00000299293:G311R;ENSP00000450048:G311R;ENSP00000447241:G311R;ENSP00000381083:G311R	.	G	+	1	0	FRS2	68254406	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.286000	0.72665	2.881000	0.98747	0.650000	0.86243	GGG		0.458	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1		NM_006654		28	48	0	0	0	0.007291	0	28	48		
CCER1	196477	broad.mit.edu	37	12	91347544	91347544	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:91347544C>T	ENST00000358859.2	-	1	1409	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	326	Glu-rich.																tccacatattcagcctcttcg	0.547																																						uc001tbj.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(976-978)GAA>AAA		hypothetical protein LOC196477							178.0	149.0	159.0					12																	91347544		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347544C>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.976G>A	12.37:g.91347544C>T	ENSP00000351727:p.Glu326Lys						p.E326K	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	1410	-			326			Potential.|Glu-rich.		Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.976G>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	5.747	0.322318	0.10900	.	.	ENSG00000197651	ENST00000358859	T	0.32515	1.45	4.72	2.9	0.33743	.	1.719210	0.03784	N	0.261849	T	0.18923	0.0454	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	10	0.36615	T	0.2	-1.1638	8.0073	0.30332	0.0:0.8112:0.0:0.1888	.	326	Q8TC90	CL012_HUMAN	K	326	ENSP00000351727:E326K	ENSP00000351727:E326K	E	-	1	0	C12orf12	89871675	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.084000	0.11268	0.703000	0.31848	-0.700000	0.03674	GAA		0.547	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2		NM_152638		10	23	0	0	0	0.008291	0	10	23		
CHST11	50515	broad.mit.edu	37	12	105151459	105151459	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:105151459G>A	ENST00000303694.5	+	3	1376	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	CHST11_ENST00000549260.1_Missense_Mutation_p.E308K	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	313					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						AACTACTGATGAAATGACCAC	0.463																																						uc001tkx.1		NaN																	0					0						c.(937-939)GAA>AAA		carbohydrate sulfotransferase 11							74.0	70.0	71.0					12																	105151459		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151459G>A	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.937G>A	12.37:g.105151459G>A	ENSP00000305725:p.Glu313Lys					CHST11_uc001tky.2_Missense_Mutation_p.E308K|uc001tkz.2_5'Flank	p.E313K	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN			4	1228	+			313			Lumenal (Potential).		A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.937G>A	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450785	0.43531	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.73363	-0.74;-0.74	5.25	5.25	0.73442	.	0.275444	0.41712	D	0.000824	T	0.62466	0.2430	N	0.17594	0.5	0.80722	D	1	B;B	0.29646	0.213;0.253	B;B	0.31101	0.076;0.124	T	0.59043	-0.7528	10	0.25106	T	0.35	-15.9531	18.8531	0.92240	0.0:0.0:1.0:0.0	.	308;313	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	K	308;313	ENSP00000450004:E308K;ENSP00000305725:E313K	ENSP00000305725:E313K	E	+	1	0	CHST11	103675589	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.557000	0.60782	2.467000	0.83353	0.555000	0.69702	GAA		0.463	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2		NM_018413		12	30	0	0	0	0.001855	0	12	30		
FOXN4	121643	broad.mit.edu	37	12	109719382	109719382	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:109719382G>C	ENST00000299162.5	-	9	1228	c.1124C>G	c.(1123-1125)tCt>tGt	p.S375C	FOXN4_ENST00000355216.1_Missense_Mutation_p.S195C	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	375					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						TGGTGCTGGAGAGTCTGGAGC	0.682																																						uc001toe.3		NaN																	0				ovary(1)|lung(1)	2						c.(1123-1125)TCT>TGT		forkhead box N4							41.0	28.0	32.0					12																	109719382		2202	4300	6502	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719382G>C	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1124C>G	12.37:g.109719382G>C	ENSP00000299162:p.Ser375Cys					FOXN4_uc009zvg.2_Missense_Mutation_p.S172C|FOXN4_uc001tof.3_Missense_Mutation_p.S195C	p.S375C	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			9	1229	-			375					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.1124C>G	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262324	0.80358	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95853	-3.83;-3.46	4.76	4.76	0.60689	.	0.755242	0.12858	N	0.433372	D	0.97688	0.9242	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.97566	1.0101	10	0.87932	D	0	-22.9694	17.3305	0.87262	0.0:0.0:1.0:0.0	.	375;375	A6H901;Q96NZ1	.;FOXN4_HUMAN	C	195;375	ENSP00000347354:S195C;ENSP00000299162:S375C	ENSP00000299162:S375C	S	-	2	0	FOXN4	108203765	1.000000	0.71417	0.951000	0.38953	0.814000	0.46013	9.062000	0.93920	2.639000	0.89480	0.555000	0.69702	TCT		0.682	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1		XM_062735		10	22	0	0	0	0.008291	0	10	22		
UBE3B	89910	broad.mit.edu	37	12	109940905	109940905	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:109940905T>A	ENST00000342494.3	+	14	1955	c.1360T>A	c.(1360-1362)Tct>Act	p.S454T	UBE3B_ENST00000434735.2_Missense_Mutation_p.S454T|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.S454T	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	454					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						ACGGGTCGACTCTGCAGAAGT	0.512																																						uc001top.2		NaN																	0				ovary(2)|lung(2)	4						c.(1360-1362)TCT>ACT		ubiquitin protein ligase E3B							130.0	117.0	121.0					12																	109940905		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109940905T>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1360T>A	12.37:g.109940905T>A	ENSP00000340596:p.Ser454Thr					UBE3B_uc001toq.2_Missense_Mutation_p.S454T|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.S454T	p.S454T	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			14	1963	+			454					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.1360T>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.988942	0.74589	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.48836	1.17;0.8;1.42;1.17	5.81	5.81	0.92471	.	0.096213	0.64402	D	0.000001	T	0.43166	0.1235	L	0.44542	1.39	0.80722	D	1	B	0.16396	0.017	B	0.20577	0.03	T	0.25012	-1.0144	10	0.41790	T	0.15	-3.7624	15.004	0.71498	0.0:0.0:0.0:1.0	.	454	Q7Z3V4	UBE3B_HUMAN	T	454	ENSP00000391529:S454T;ENSP00000280774:S454T;ENSP00000443131:S454T;ENSP00000340596:S454T	ENSP00000280774:S454T	S	+	1	0	UBE3B	108425288	1.000000	0.71417	0.402000	0.26371	0.869000	0.49853	7.277000	0.78572	2.213000	0.71641	0.533000	0.62120	TCT		0.512	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		19	87	0	0	0	0.008871	0	19	87		
BRAP	8315	broad.mit.edu	37	12	112087755	112087755	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:112087755G>A	ENST00000327551.6	-	11	1453	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	BRAP_ENST00000539060.1_Missense_Mutation_p.S289F|BRAP_ENST00000419234.4_Missense_Mutation_p.S468F			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TCTTTCCACAGACTGCTTTTC	0.338																																					Pancreas(146;846 1904 7830 25130 26065)	uc001tsn.3		NaN																	0				lung(1)	1						c.(1402-1404)TCT>TTT		BRCA1 associated protein							194.0	175.0	181.0					12																	112087755		2202	4299	6501	SO:0001583	missense	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112087755G>A	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1313C>T	12.37:g.112087755G>A	ENSP00000330813:p.Ser438Phe					BRAP_uc010syh.1_Missense_Mutation_p.S289F|BRAP_uc009zvv.2_Missense_Mutation_p.S438F	p.S468F	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN			11	1597	-			468			Potential.		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37	c.1403C>T		.	.	.	.	.	.	.	.	.	.	G	16.89	3.246841	0.59103	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.47177	0.85;0.87;0.85	5.65	5.65	0.86999	.	0.204257	0.52532	D	0.000072	T	0.50274	0.1606	L	0.46157	1.445	0.58432	D	0.999997	P;P	0.46395	0.61;0.877	B;P	0.45037	0.135;0.467	T	0.47812	-0.9088	10	0.45353	T	0.12	-12.0767	19.7049	0.96069	0.0:0.0:1.0:0.0	.	289;468	B4DRM1;Q7Z569	.;BRAP_HUMAN	F	468;289;438;250	ENSP00000403524:S468F;ENSP00000441659:S289F;ENSP00000330813:S438F	ENSP00000330813:S438F	S	-	2	0	BRAP	110572138	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.782000	0.62396	2.657000	0.90304	0.650000	0.86243	TCT		0.338	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2				3	38	0	0	0	0.009096	0	3	38		
SRRM4	84530	broad.mit.edu	37	12	119583320	119583320	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:119583320C>T	ENST00000267260.4	+	9	1294	c.906C>T	c.(904-906)gcC>gcT	p.A302A		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	302	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAGCTCAGCCAGGTCTCGGG	0.622																																						uc001txa.1		NaN																	0				ovary(2)	2						c.(904-906)GCC>GCT		KIAA1853 protein							26.0	32.0	30.0					12																	119583320		1974	4154	6128	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583320C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.906C>T	12.37:g.119583320C>T							p.A302A	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			9	1198	+			302			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.906C>T	CCDS44994.1																																																																																				0.622	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2		NM_194286		3	17	0	0	0	0.001168	0	3	17		
COQ5	84274	broad.mit.edu	37	12	120947870	120947870	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:120947870C>G	ENST00000288532.6	-	4	671	c.631G>C	c.(631-633)Gat>Cat	p.D211H	COQ5_ENST00000445328.2_Missense_Mutation_p.D137H	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	211					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGTAAATATCAAACTTGTCA	0.448																																						uc001tyn.2		NaN																	0				ovary(1)	1						c.(631-633)GAT>CAT		coenzyme Q5 homolog, methyltransferase							226.0	189.0	202.0					12																	120947870		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120947870C>G	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.631G>C	12.37:g.120947870C>G	ENSP00000288532:p.Asp211His					COQ5_uc001tyo.2_Missense_Mutation_p.D130H|COQ5_uc010szj.1_Missense_Mutation_p.D137H	p.D211H	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN			4	651	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		211					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.631G>C	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203231	0.95033	.	.	ENSG00000110871	ENST00000288532;ENST00000445328;ENST00000552443;ENST00000547943;ENST00000551769	D;D;T;T;D	0.87650	-2.28;-2.28;-1.0;-0.94;-2.28	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.94791	0.8318	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.95001	0.8143	10	0.72032	D	0.01	.	18.9769	0.92740	0.0:1.0:0.0:0.0	.	137;211	B4DP72;Q5HYK3	.;COQ5_HUMAN	H	211;137;130;161;130	ENSP00000288532:D211H;ENSP00000401798:D137H;ENSP00000449863:D130H;ENSP00000449874:D161H;ENSP00000450001:D130H	ENSP00000288532:D211H	D	-	1	0	COQ5	119432253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.561000	0.82288	2.773000	0.95371	0.655000	0.94253	GAT		0.448	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2		NM_032314		38	59	0	0	0	0.01441	0	38	59		
P2RX7	5027	broad.mit.edu	37	12	121615184	121615184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:121615184C>T	ENST00000546057.1	+	11	1266	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000541446.1_Nonsense_Mutation_p.Q86*|P2RX7_ENST00000535250.1_Nonsense_Mutation_p.Q285*|P2RX7_ENST00000328963.5_Nonsense_Mutation_p.Q205*	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	375					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGTGCTGTCAGCCCTGTGT	0.532																																						uc001tzm.2		NaN																	0				large_intestine(2)|lung(1)|breast(1)|skin(1)	5						c.(1123-1125)CAG>TAG		purinergic receptor P2X7							117.0	103.0	108.0					12																	121615184		2203	4300	6503	SO:0001587	stop_gained	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121615184C>T	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1123C>T	12.37:g.121615184C>T	ENSP00000442349:p.Gln375*					P2RX7_uc001tzn.2_Nonsense_Mutation_p.Q285*|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_Nonsense_Mutation_p.Q86*|P2RX7_uc001tzq.2_Nonsense_Mutation_p.Q205*	p.Q375*	NM_002562	NP_002553	Q99572	P2RX7_HUMAN			11	1219	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		375					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Nonsense_Mutation	SNP	ENST00000546057.1	37	c.1123C>T	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172407	0.94807	.	.	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250;ENST00000541446	.	.	.	5.69	-7.73	0.01245	.	1.875210	0.02511	N	0.091577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3306	10.0638	0.42290	0.4198:0.4396:0.1406:0.0	.	.	.	.	X	375;205;285;86	.	ENSP00000330696:Q205X	Q	+	1	0	P2RX7	120099567	0.000000	0.05858	0.000000	0.03702	0.877000	0.50540	-0.875000	0.04205	-1.811000	0.01229	-0.340000	0.08031	CAG		0.532	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1		NM_002562		13	58	0	0	0	0.00245	0	13	58		
KDM2B	84678	broad.mit.edu	37	12	121878735	121878735	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:121878735G>A	ENST00000377071.4	-	21	3566	c.3494C>T	c.(3493-3495)tCg>tTg	p.S1165L	KDM2B_ENST00000377069.4_Missense_Mutation_p.S1096L|KDM2B_ENST00000542973.1_Missense_Mutation_p.S533L|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1165					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCAAAGGGCCGAGACCGCGAT	0.637																																						uc001uat.2		NaN																	0				ovary(1)|skin(1)	2						c.(3493-3495)TCG>TTG		F-box and leucine-rich repeat protein 10 isoform							35.0	42.0	40.0					12																	121878735		2124	4249	6373	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121878735G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3494C>T	12.37:g.121878735G>A	ENSP00000366271:p.Ser1165Leu					KDM2B_uc001uaq.2_Missense_Mutation_p.S605L|KDM2B_uc010szy.1_Missense_Mutation_p.S605L|KDM2B_uc001uar.2_Missense_Mutation_p.S756L|KDM2B_uc001uas.2_Missense_Mutation_p.S1096L|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.S413L|KDM2B_uc010szx.1_Missense_Mutation_p.S413L|KDM2B_uc001uap.2_RNA	p.S1165L	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			21	3598	-			1165			LRR 3.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3494C>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	36	5.946166	0.97134	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.32272	1.46;1.46;1.46	6.07	6.07	0.98685	.	0.664124	0.13159	N	0.409199	T	0.53302	0.1788	M	0.66560	2.04	0.80722	D	1	P;D;D;P	0.89917	0.914;1.0;1.0;0.729	B;D;D;B	0.79108	0.305;0.992;0.992;0.227	T	0.43621	-0.9380	10	0.02654	T	1	-11.2896	20.6439	0.99570	0.0:0.0:1.0:0.0	.	605;1165;1096;608	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	L	1153;533;1096;1165;608;1168	ENSP00000437821:S533L;ENSP00000366269:S1096L;ENSP00000366271:S1165L	ENSP00000261824:S1168L	S	-	2	0	KDM2B	120363118	1.000000	0.71417	0.968000	0.41197	0.840000	0.47671	9.793000	0.99091	2.884000	0.98904	0.655000	0.94253	TCG		0.637	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2		NM_032590		28	87	0	0	0	0.00623	0	28	87		
RSRC2	65117	broad.mit.edu	37	12	122991412	122991412	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:122991412T>C	ENST00000331738.7	-	9	1239	c.1094A>G	c.(1093-1095)aAt>aGt	p.N365S	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.N317S	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	365							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		AAATTTGACATTTTGGTCCTT	0.343																																						uc001ucr.2		NaN																	0				ovary(1)	1						c.(1093-1095)AAT>AGT		arginine/serine-rich coiled-coil 2 isoform a							194.0	186.0	188.0					12																	122991412		2203	4300	6503	SO:0001583	missense	65117							g.chr12:122991412T>C	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1094A>G	12.37:g.122991412T>C	ENSP00000330188:p.Asn365Ser					RSRC2_uc001uco.2_Missense_Mutation_p.N134S|RSRC2_uc001ucp.2_Missense_Mutation_p.N306S|RSRC2_uc001ucq.2_Missense_Mutation_p.N133S|RSRC2_uc001ucs.2_Missense_Mutation_p.N134S|RSRC2_uc001uct.2_Missense_Mutation_p.N317S|RSRC2_uc001ucu.2_Missense_Mutation_p.N366S	p.N365S	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	9	1240	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		365					Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.1094A>G	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367533	0.82463	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773	T;T	0.43294	0.95;0.96	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	L	0.47716	1.5	0.58432	D	0.999999	P;P;P	0.49696	0.892;0.782;0.927	B;B;D	0.67725	0.42;0.42;0.953	T	0.47045	-0.9147	10	0.22109	T	0.4	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	317;365;134	Q7L4I2-2;Q7L4I2;B3KMH4	.;RSRC2_HUMAN;.	S	365;317;366	ENSP00000330188:N365S;ENSP00000346678:N317S	ENSP00000330188:N365S	N	-	2	0	RSRC2	121557365	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.638000	0.83328	2.308000	0.77769	0.533000	0.62120	AAT		0.343	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3		NM_023012		34	51	0	0	0	0.006999	0	34	51		
ABCB9	23457	broad.mit.edu	37	12	123434347	123434347	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:123434347C>T	ENST00000542678.1	-	4	3673	c.835G>A	c.(835-837)Gag>Aag	p.E279K	ABCB9_ENST00000442028.2_Missense_Mutation_p.E279K|ABCB9_ENST00000346530.5_Missense_Mutation_p.E279K|ABCB9_ENST00000392439.3_Missense_Mutation_p.E279K|ABCB9_ENST00000344275.7_Missense_Mutation_p.E279K|ABCB9_ENST00000540285.1_Missense_Mutation_p.E279K|ABCB9_ENST00000280560.8_Missense_Mutation_p.E279K|ABCB9_ENST00000442833.2_Missense_Mutation_p.E279K			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	279	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GTGCGGTTCTCATCAAAGAAG	0.572																																					Ovarian(49;786 1333 9175 38236)	uc001udm.3		NaN																	0					0						c.(835-837)GAG>AAG		ATP-binding cassette, sub-family B (MDR/TAP),							122.0	123.0	123.0					12																	123434347		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123434347C>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.835G>A	12.37:g.123434347C>T	ENSP00000440288:p.Glu279Lys					ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.E279K|ABCB9_uc010taj.1_Missense_Mutation_p.E279K|ABCB9_uc001udp.2_Missense_Mutation_p.E279K|ABCB9_uc001udq.2_Missense_Mutation_p.E61K|ABCB9_uc001udr.2_Missense_Mutation_p.E279K	p.E279K	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	4	1145	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		279			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.835G>A	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959664	0.74016	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000536976;ENST00000541424	T;D;T;T;T;T;T;T	0.91180	-1.28;-2.8;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.054850	0.64402	D	0.000001	D	0.87398	0.6167	N	0.16478	0.41	0.53688	D	0.999972	B;B;B;B;B	0.34103	0.41;0.34;0.051;0.175;0.437	P;B;B;B;B	0.45276	0.475;0.236;0.173;0.07;0.348	T	0.82343	-0.0504	10	0.08179	T	0.78	-42.8476	20.1278	0.97990	0.0:1.0:0.0:0.0	.	279;279;61;279;279	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	K	279;279;279;279;279;279;41;58	ENSP00000280560:E279K;ENSP00000441734:E279K;ENSP00000280559:E279K;ENSP00000376234:E279K;ENSP00000440288:E279K;ENSP00000394898:E279K;ENSP00000443433:E41K;ENSP00000440138:E58K	ENSP00000280560:E279K	E	-	1	0	ABCB9	122000300	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.616000	0.67709	2.768000	0.95171	0.561000	0.74099	GAG		0.572	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1		NM_019624		23	74	0	0	0	0.005443	0	23	74		
DNAH10	196385	broad.mit.edu	37	12	124330151	124330151	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:124330151G>A	ENST00000409039.3	+	30	5036	c.5011G>A	c.(5011-5013)Gac>Aac	p.D1671N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1671	Stem. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGCAGAGTCGACTGGATGCT	0.532																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5011-5013)GAC>AAC		dynein, axonemal, heavy chain 10							34.0	37.0	36.0					12																	124330151		2020	4184	6204	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124330151G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5011G>A	12.37:g.124330151G>A	ENSP00000386770:p.Asp1671Asn						p.D1671N	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	30	5036	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1671			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5011G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714575	0.68730	.	.	ENSG00000197653	ENST00000409039	T	0.22945	1.93	5.77	5.77	0.91146	.	0.097942	0.36519	U	0.002554	T	0.35068	0.0919	M	0.62266	1.93	0.80722	D	1	D	0.54964	0.969	P	0.45474	0.482	T	0.03829	-1.1000	10	0.32370	T	0.25	.	19.9983	0.97395	0.0:0.0:1.0:0.0	.	1671	Q8IVF4	DYH10_HUMAN	N	1671	ENSP00000386770:D1671N	ENSP00000386770:D1671N	D	+	1	0	DNAH10	122896104	1.000000	0.71417	0.994000	0.49952	0.334000	0.28698	7.785000	0.85724	2.724000	0.93272	0.561000	0.74099	GAC		0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				25	32	0	0	0	0.013726	0	25	32		
DNAH10	196385	broad.mit.edu	37	12	124345611	124345611	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:124345611A>G	ENST00000409039.3	+	38	6473	c.6448A>G	c.(6448-6450)Ata>Gta	p.I2150V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2150	AAA 2. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGTGAGTGTCATAGAACTCTA	0.483																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6448-6450)ATA>GTA		dynein, axonemal, heavy chain 10							82.0	80.0	81.0					12																	124345611		1893	4126	6019	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124345611A>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6448A>G	12.37:g.124345611A>G	ENSP00000386770:p.Ile2150Val						p.I2150V	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	38	6473	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2150			AAA 2 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.6448A>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634418	0.29068	.	.	ENSG00000197653	ENST00000409039	T	0.54071	0.59	5.59	5.59	0.84812	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	U	0.000001	T	0.45034	0.1322	L	0.39085	1.19	0.48135	D	0.999595	B	0.29341	0.242	B	0.29353	0.101	T	0.34576	-0.9823	10	0.33141	T	0.24	.	15.7608	0.78080	1.0:0.0:0.0:0.0	.	2150	Q8IVF4	DYH10_HUMAN	V	2150	ENSP00000386770:I2150V	ENSP00000386770:I2150V	I	+	1	0	DNAH10	122911564	1.000000	0.71417	0.999000	0.59377	0.618000	0.37518	7.421000	0.80204	2.125000	0.65367	0.533000	0.62120	ATA		0.483	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				27	32	0	0	0	0.010818	0	27	32		
TMEM132B	114795	broad.mit.edu	37	12	125834468	125834468	+	Missense_Mutation	SNP	C	C	T	rs369009903		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:125834468C>T	ENST00000299308.3	+	2	531	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	175						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCCAGCTGTCGGCTGCAAGG	0.612																																						uc001uhe.1		NaN																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(523-525)CGG>TGG		transmembrane protein 132B		C	TRP/ARG	1,4013		0,1,2006	55.0	60.0	59.0		523	3.3	1.0	12		59	0,8404		0,0,4202	no	missense	TMEM132B	NM_052907.2	101	0,1,6208	TT,TC,CC		0.0,0.0249,0.0081	probably-damaging	175/1079	125834468	1,12417	2007	4202	6209	SO:0001583	missense	114795					integral to membrane		g.chr12:125834468C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.523C>T	12.37:g.125834468C>T	ENSP00000299308:p.Arg175Trp						p.R175W	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	531	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		175			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.523C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779270	0.70107	2.49E-4	0.0	ENSG00000139364	ENST00000299308	T	0.13657	2.57	5.34	3.32	0.38043	.	.	.	.	.	T	0.27663	0.0680	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	P	0.59288	0.855	T	0.01795	-1.1272	9	0.51188	T	0.08	.	10.2513	0.43370	0.2022:0.7154:0.0:0.0823	.	175	Q14DG7	T132B_HUMAN	W	175	ENSP00000299308:R175W	ENSP00000299308:R175W	R	+	1	2	TMEM132B	124400421	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	1.906000	0.39887	1.250000	0.43966	0.655000	0.94253	CGG		0.612	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1		NM_052907		35	49	0	0	0	0.009718	0	35	49		
GOLGA3	2802	broad.mit.edu	37	12	133384936	133384936	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:133384936G>C	ENST00000450791.2	-	4	902	c.719C>G	c.(718-720)tCa>tGa	p.S240*	GOLGA3_ENST00000537452.1_Nonsense_Mutation_p.S240*|GOLGA3_ENST00000204726.3_Nonsense_Mutation_p.S240*|GOLGA3_ENST00000456883.2_Nonsense_Mutation_p.S240*|GOLGA3_ENST00000545875.1_Nonsense_Mutation_p.S240*			Q08378	GOGA3_HUMAN	golgin A3	240	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GATTTTGCTTGATTTGGAAGT	0.532																																						uc001ukz.1		NaN																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(718-720)TCA>TGA		Golgi autoantigen, golgin subfamily a, 3							138.0	156.0	150.0					12																	133384936		2203	4300	6503	SO:0001587	stop_gained	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384936G>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.719C>G	12.37:g.133384936G>C	ENSP00000410378:p.Ser240*					GOLGA3_uc001ula.1_Nonsense_Mutation_p.S240*|GOLGA3_uc001ulb.2_Nonsense_Mutation_p.S240*	p.S240*	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1278	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	240			Golgi-targeting domain.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Nonsense_Mutation	SNP	ENST00000450791.2	37	c.719C>G	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	42	9.242309	0.99111	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	.	.	.	5.34	3.51	0.40186	.	0.478120	0.24176	N	0.040843	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.7408	0.51792	0.1435:0.0:0.8565:0.0	.	.	.	.	X	240	.	ENSP00000204726:S240X	S	-	2	0	GOLGA3	131895009	1.000000	0.71417	0.921000	0.36526	0.800000	0.45204	3.977000	0.56874	0.749000	0.32854	0.585000	0.79938	TCA		0.532	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2		NM_005895		89	126	0	0	0	0.01441	0	89	126		
MICU2	221154	broad.mit.edu	37	13	22178097	22178097	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:22178097C>G	ENST00000382374.4	-	1	256	c.191G>C	c.(190-192)aGt>aCt	p.S64T		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	64					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										GACTGTAAAACTGCCATCCCG	0.672																																						uc001uof.2		NaN																	0					0						c.(190-192)AGT>ACT		EF-hand domain family, member A1							25.0	26.0	26.0					13																	22178097		2202	4300	6502	SO:0001583	missense	221154						calcium ion binding	g.chr13:22178097C>G	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.191G>C	13.37:g.22178097C>G	ENSP00000371811:p.Ser64Thr						p.S64T	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)	1	213	-		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	64					Q8N0T6|Q8NAX8	Missense_Mutation	SNP	ENST00000382374.4	37	c.191G>C	CCDS9297.1	.	.	.	.	.	.	.	.	.	.	C	3.260	-0.151375	0.06585	.	.	ENSG00000165487	ENST00000382374	T	0.42900	0.96	5.01	0.0299	0.14165	.	0.752589	0.13272	N	0.400416	T	0.22126	0.0533	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26395	-1.0104	10	0.10377	T	0.69	-14.2994	5.0627	0.14566	0.0:0.4477:0.2941:0.2582	.	64	Q8IYU8	EFHA1_HUMAN	T	64	ENSP00000371811:S64T	ENSP00000371811:S64T	S	-	2	0	EFHA1	21076097	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.202000	0.09451	0.014000	0.14944	0.561000	0.74099	AGT		0.672	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1		NM_152726		18	98	0	0	0	0.00632	0	18	98		
MIPEP	4285	broad.mit.edu	37	13	24449002	24449002	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:24449002G>A	ENST00000382172.3	-	5	684	c.586C>T	c.(586-588)Cat>Tat	p.H196Y		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	196					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TTGTCTAGATGGATTCCACTA	0.323																																						uc001uox.3		NaN																	0				central_nervous_system(1)	1						c.(586-588)CAT>TAT		mitochondrial intermediate peptidase precursor							126.0	132.0	130.0					13																	24449002		2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24449002G>A		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.586C>T	13.37:g.24449002G>A	ENSP00000371607:p.His196Tyr						p.H196Y	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	5	686	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	196					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.586C>T	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514150	0.85389	.	.	ENSG00000027001	ENST00000382172	T	0.09445	2.98	5.68	5.68	0.88126	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.07214	-1.0784	10	0.62326	D	0.03	.	19.1345	0.93420	0.0:0.0:1.0:0.0	.	196	Q99797	MIPEP_HUMAN	Y	196	ENSP00000371607:H196Y	ENSP00000371607:H196Y	H	-	1	0	MIPEP	23347002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.474000	0.90413	2.834000	0.97654	0.655000	0.94253	CAT		0.323	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1				27	109	0	0	0	0.010818	0	27	109		
POLR1D	51082	broad.mit.edu	37	13	28197305	28197305	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:28197305G>A	ENST00000302979.3	+	3	1342	c.320G>A	c.(319-321)tGc>tAc	p.C107Y	POLR1D_ENST00000399696.1_Missense_Mutation_p.C107Y|POLR1D_ENST00000399697.3_Intron|POLR1D_ENST00000465887.1_Intron|LNX2_ENST00000316334.3_5'Flank	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	107					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		ATGAATGTCTGCCAACATGTG	0.423																																						uc010tdm.1		NaN																	0					0						c.(319-321)TGC>TAC		polymerase (RNA) I polypeptide D isoform 1							88.0	90.0	89.0					13																	28197305		2203	4300	6503	SO:0001583	missense	51082				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr13:28197305G>A	AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000302979.3:c.320G>A	13.37:g.28197305G>A	ENSP00000302478:p.Cys107Tyr					LNX2_uc001url.3_5'Flank|LNX2_uc001urm.1_5'Flank|POLR1D_uc010aam.2_Intron|POLR1D_uc001urq.2_Intron|POLR1D_uc001uro.2_Missense_Mutation_p.C107Y|POLR1D_uc001urp.2_Intron	p.C107Y	NM_015972	NP_057056	Q9Y2S0	RPAC2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)	3	1350	+		Lung SC(185;0.0161)	107					Q5TBX2|Q96BR3	Missense_Mutation	SNP	ENST00000302979.3	37	c.320G>A	CCDS9325.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048131	0.75846	.	.	ENSG00000186184	ENST00000302979;ENST00000399696	D;D	0.93426	-3.22;-3.22	4.97	4.97	0.65823	DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	.	.	.	.	D	0.96642	0.8904	M	0.86502	2.82	0.54753	D	0.999982	D	0.69078	0.997	D	0.68483	0.958	D	0.96379	0.9280	9	0.51188	T	0.08	-5.7899	14.5216	0.67853	0.0:0.0:1.0:0.0	.	107	Q9Y2S0	RPAC2_HUMAN	Y	107	ENSP00000302478:C107Y;ENSP00000382603:C107Y	ENSP00000302478:C107Y	C	+	2	0	POLR1D	27095305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.765000	0.62271	2.696000	0.92011	0.650000	0.86243	TGC		0.423	POLR1D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044305.1		NM_015972, NM_152705		37	95	0	0	0	0.011902	0	37	95		
KL	9365	broad.mit.edu	37	13	33638310	33638310	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:33638310G>A	ENST00000380099.3	+	5	3034	c.3026G>A	c.(3025-3027)aGa>aAa	p.R1009K	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	1009					acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAAGGCAGAAGAAGTTACAAA	0.323																																						uc001uus.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(3025-3027)AGA>AAA		klotho precursor							33.0	35.0	34.0					13																	33638310		2201	4298	6499	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33638310G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.3026G>A	13.37:g.33638310G>A	ENSP00000369442:p.Arg1009Lys						p.R1009K	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	5	3034	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	1009			Cytoplasmic (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.3026G>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918104	0.33815	.	.	ENSG00000133116	ENST00000380099	T	0.19669	2.13	4.7	4.7	0.59300	.	0.155042	0.56097	D	0.000024	T	0.10766	0.0263	N	0.12182	0.205	0.50039	D	0.999842	B	0.34015	0.435	B	0.25140	0.058	T	0.15178	-1.0446	10	0.09590	T	0.72	-14.7815	17.17	0.86827	0.0:0.0:1.0:0.0	.	1009	Q9UEF7	KLOT_HUMAN	K	1009	ENSP00000369442:R1009K	ENSP00000369442:R1009K	R	+	2	0	KL	32536310	1.000000	0.71417	0.998000	0.56505	0.749000	0.42624	4.193000	0.58385	2.590000	0.87494	0.655000	0.94253	AGA		0.323	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1				10	25	0	0	0	0.010729	0	10	25		
RFXAP	5994	broad.mit.edu	37	13	37394043	37394043	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:37394043G>A	ENST00000255476.2	+	1	683	c.549G>A	c.(547-549)ctG>ctA	p.L183L		NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	183					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		ACCAGGCCCTGAACTGCGGTG	0.557																																						uc001uvu.1		NaN																	0				ovary(1)	1						c.(547-549)CTG>CTA		regulatory factor X-associated protein							64.0	59.0	60.0					13																	37394043		2203	4300	6503	SO:0001819	synonymous_variant	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37394043G>A	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.549G>A	13.37:g.37394043G>A							p.L183L	NM_000538	NP_000529	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	1	705	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	183					B2R9T8|Q5VZM6|Q8TC40	Silent	SNP	ENST00000255476.2	37	c.549G>A	CCDS9359.1																																																																																				0.557	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1		NM_000538		18	18	0	0	0	0.012319	0	18	18		
NHLRC3	387921	broad.mit.edu	37	13	39621833	39621833	+	Silent	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:39621833T>C	ENST00000379600.3	+	7	1136	c.814T>C	c.(814-816)Ttg>Ctg	p.L272L	NHLRC3_ENST00000470258.1_Silent_p.L75L|NHLRC3_ENST00000379599.2_Silent_p.L205L	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	272						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TGGGAAGTACTTGATTGTGGC	0.423																																						uc001uxc.2		NaN																	0				skin(1)	1						c.(814-816)TTG>CTG		NHL repeat containing 3 isoform a							69.0	68.0	68.0					13																	39621833		2203	4300	6503	SO:0001819	synonymous_variant	387921					extracellular region		g.chr13:39621833T>C		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.814T>C	13.37:g.39621833T>C						NHLRC3_uc001uxd.2_Silent_p.L205L|NHLRC3_uc001uxe.2_Silent_p.L75L	p.L272L	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	7	1136	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	272					B2RTZ2|B4DTL0|Q69YI9	Silent	SNP	ENST00000379600.3	37	c.814T>C	CCDS31961.1																																																																																				0.423	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2		NM_001012754		23	16	0	0	0	0.004656	0	23	16		
AKAP11	11215	broad.mit.edu	37	13	42876628	42876628	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:42876628C>T	ENST00000025301.2	+	8	3921	c.3746C>T	c.(3745-3747)tCa>tTa	p.S1249L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1249					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTAAACCCCTCAGACGAAAAT	0.363																																						uc001uys.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3745-3747)TCA>TTA		A-kinase anchor protein 11							65.0	69.0	68.0					13																	42876628		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876628C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3746C>T	13.37:g.42876628C>T	ENSP00000025301:p.Ser1249Leu						p.S1249L	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	3921	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1249					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3746C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	7.014	0.557271	0.13436	.	.	ENSG00000023516	ENST00000025301	T	0.50277	0.75	4.88	3.12	0.35913	.	0.426946	0.20508	N	0.090944	T	0.38878	0.1057	L	0.40543	1.245	0.47862	D	0.999537	B	0.14805	0.011	B	0.16289	0.015	T	0.18777	-1.0326	10	0.44086	T	0.13	.	12.2864	0.54795	0.0:0.8566:0.0:0.1434	.	1249	Q9UKA4	AKA11_HUMAN	L	1249	ENSP00000025301:S1249L	ENSP00000025301:S1249L	S	+	2	0	AKAP11	41774628	0.843000	0.29541	0.008000	0.14137	0.013000	0.08279	3.559000	0.53756	0.710000	0.31997	0.655000	0.94253	TCA		0.363	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2		NM_016248		28	32	0	0	0	0.013726	0	28	32		
AKAP11	11215	broad.mit.edu	37	13	42877371	42877371	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:42877371G>A	ENST00000025301.2	+	8	4664	c.4489G>A	c.(4489-4491)Gaa>Aaa	p.E1497K		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1497					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGGATATGAAGAAGATAATGA	0.398																																						uc001uys.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4489-4491)GAA>AAA		A-kinase anchor protein 11							120.0	118.0	119.0					13																	42877371		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877371G>A	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4489G>A	13.37:g.42877371G>A	ENSP00000025301:p.Glu1497Lys						p.E1497K	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4664	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1497					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4489G>A	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	7.972	0.749218	0.15710	.	.	ENSG00000023516	ENST00000025301	T	0.49720	0.77	5.99	4.26	0.50523	.	0.533866	0.20164	N	0.097898	T	0.29093	0.0723	N	0.12182	0.205	0.32085	N	0.592614	B	0.06786	0.001	B	0.10450	0.005	T	0.26608	-1.0098	10	0.23302	T	0.38	.	12.2802	0.54759	0.1355:0.0:0.8645:0.0	.	1497	Q9UKA4	AKA11_HUMAN	K	1497	ENSP00000025301:E1497K	ENSP00000025301:E1497K	E	+	1	0	AKAP11	41775371	1.000000	0.71417	0.004000	0.12327	0.005000	0.04900	4.633000	0.61318	1.547000	0.49401	0.655000	0.94253	GAA		0.398	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2		NM_016248		42	40	0	0	0	0.01441	0	42	40		
PCDH8	5100	broad.mit.edu	37	13	53418738	53418738	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:53418738C>A	ENST00000377942.3	-	3	3373	c.3170G>T	c.(3169-3171)gGc>gTc	p.G1057V	PCDH8_ENST00000338862.4_Missense_Mutation_p.G960V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1057					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGGTACCTGCCAGGAGGGGA	0.547																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NaN																	0				breast(1)	1						c.(3169-3171)GGC>GTC		protocadherin 8 isoform 1 precursor							69.0	74.0	72.0					13																	53418738		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53418738C>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.3170G>T	13.37:g.53418738C>A	ENSP00000367177:p.Gly1057Val					PCDH8_uc001vhj.2_Missense_Mutation_p.G960V	p.G1057V	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3373	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	1057			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.3170G>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972859	0.34848	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.52526	0.74;0.66	6.07	3.34	0.38264	.	0.164390	0.28940	N	0.013660	T	0.23846	0.0577	N	0.08118	0	0.48236	D	0.999611	B;B	0.16396	0.017;0.01	B;B	0.15870	0.014;0.01	T	0.09862	-1.0655	10	0.72032	D	0.01	.	4.6737	0.12701	0.1138:0.4888:0.3107:0.0866	.	960;1057	O95206-2;O95206	.;PCDH8_HUMAN	V	1057;960;583;900	ENSP00000367177:G1057V;ENSP00000341350:G960V	ENSP00000341350:G960V	G	-	2	0	PCDH8	52316739	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.588000	0.46137	1.583000	0.49898	0.655000	0.94253	GGC		0.547	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2		NM_002590		38	39	1	0	3.09479e-21	0.006999	3.32818e-21	38	39		
MYCBP2	23077	broad.mit.edu	37	13	77743847	77743847	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:77743847C>T	ENST00000544440.2	-	39	5700	c.5683G>A	c.(5683-5685)Gat>Aat	p.D1895N	MYCBP2_ENST00000357337.6_Missense_Mutation_p.D1895N|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D1933N					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)		GGAATGTCATCAGCTAAAAAA	0.398																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(5683-5685)GAT>AAT		MYC binding protein 2							59.0	62.0	61.0					13																	77743847		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77743847C>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.5683G>A	13.37:g.77743847C>T	ENSP00000444596:p.Asp1895Asn					MYCBP2_uc010aev.2_Missense_Mutation_p.D1299N	p.D1895N	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	40	5774	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1895						Missense_Mutation	SNP	ENST00000544440.2	37	c.5683G>A		.	.	.	.	.	.	.	.	.	.	C	22.0	4.234251	0.79688	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28255	1.62;1.62;1.62	4.95	4.95	0.65309	.	0.142257	0.51477	D	0.000093	T	0.17408	0.0418	N	0.08118	0	0.51482	D	0.999927	B	0.26635	0.155	B	0.20384	0.029	T	0.08269	-1.0730	10	0.15066	T	0.55	.	18.5628	0.91107	0.0:1.0:0.0:0.0	.	1895	O75592	MYCB2_HUMAN	N	1895;1933;1895	ENSP00000349892:D1895N;ENSP00000384288:D1933N;ENSP00000444596:D1895N	ENSP00000349892:D1895N	D	-	1	0	MYCBP2	76641848	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.706000	0.84615	2.448000	0.82819	0.650000	0.86243	GAT		0.398	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		20	34	0	0	0	0.007413	0	20	34		
RBM26	64062	broad.mit.edu	37	13	79943007	79943007	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:79943007C>G	ENST00000438737.2	-	6	1193	c.753G>C	c.(751-753)ttG>ttC	p.L251F	RBM26_ENST00000461008.1_5'Flank|RBM26_ENST00000438724.1_Missense_Mutation_p.L251F|RBM26_ENST00000267229.7_Missense_Mutation_p.L251F			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	251					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TAGTGCTGCTCAAAGTAGGTA	0.398																																						uc001vkz.2		NaN																	0				ovary(1)	1						c.(751-753)TTG>TTC		RNA binding motif protein 26							195.0	181.0	186.0					13																	79943007		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79943007C>G	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.753G>C	13.37:g.79943007C>G	ENSP00000387531:p.Leu251Phe					RBM26_uc001vky.2_Missense_Mutation_p.L251F|RBM26_uc001vla.2_Missense_Mutation_p.L251F|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA	p.L251F	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	6	767	-		Acute lymphoblastic leukemia(28;0.0279)	251					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.753G>C		.	.	.	.	.	.	.	.	.	.	C	16.79	3.220116	0.58560	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.48201	0.82;0.82	5.78	3.16	0.36331	.	0.000000	0.64402	D	0.000001	T	0.56746	0.2006	L	0.47716	1.5	0.54753	D	0.999986	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.87578	0.998;0.994;0.991	T	0.50329	-0.8841	9	.	.	.	-5.9632	8.5959	0.33714	0.0:0.6516:0.0:0.3484	.	251;251;251	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	F	251;252;251;251	ENSP00000267229:L251F;ENSP00000390222:L251F	.	L	-	3	2	RBM26	78841008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.277000	0.33167	0.379000	0.24794	0.585000	0.79938	TTG		0.398	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118		3	131	0	0	0	0.009096	0	3	131		
NALCN	259232	broad.mit.edu	37	13	102029158	102029158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:102029158C>T	ENST00000251127.6	-	6	618	c.537G>A	c.(535-537)tgG>tgA	p.W179*	NALCN_ENST00000376196.3_Nonsense_Mutation_p.W179*|NALCN_ENST00000376200.5_Nonsense_Mutation_p.W179*|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	179					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGAAACACTCCATATTTGTT	0.308																																						uc001vox.1		NaN																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(535-537)TGG>TGA		voltage gated channel like 1							112.0	124.0	120.0					13																	102029158		2203	4300	6503	SO:0001587	stop_gained	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029158C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.537G>A	13.37:g.102029158C>T	ENSP00000251127:p.Trp179*					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Nonsense_Mutation_p.W179*|NALCN_uc001vpa.2_Nonsense_Mutation_p.W179*	p.W179*	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			6	726	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		179			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	c.537G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930480	0.92389	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	.	.	.	4.92	4.92	0.64577	.	0.122943	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	13.5627	0.61799	0.0:0.9227:0.0:0.0773	.	.	.	.	X	179	.	ENSP00000251127:W179X	W	-	3	0	NALCN	100827159	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.398000	0.79919	2.283000	0.76528	0.650000	0.86243	TGG		0.308	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867		19	105	0	0	0	0.014323	0	19	105		
TPP2	7174	broad.mit.edu	37	13	103279421	103279421	+	Silent	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:103279421C>A	ENST00000376065.4	+	7	880	c.844C>A	c.(844-846)Cgg>Agg	p.R282R	TPP2_ENST00000376052.3_Silent_p.R282R	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	282	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAACCTGAACGGAATGGGGT	0.463																																						uc001vpi.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(844-846)CGG>AGG		tripeptidyl peptidase II							139.0	134.0	135.0					13																	103279421		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103279421C>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.844C>A	13.37:g.103279421C>A							p.R282R	NM_003291	NP_003282	P29144	TPP2_HUMAN			7	947	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		282					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.844C>A	CCDS9502.1																																																																																				0.463	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2				31	92	1	0	5.8336e-16	0.003271	6.21728e-16	31	92		
ATP11A	23250	broad.mit.edu	37	13	113532536	113532536	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:113532536G>C	ENST00000487903.1	+	29	3421	c.3333G>C	c.(3331-3333)aaG>aaC	p.K1111N	ATP11A_ENST00000283558.8_Missense_Mutation_p.K1111N|ATP11A_ENST00000375630.2_Intron|ATP11A_ENST00000375645.3_Missense_Mutation_p.K1111N			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1111					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTAAGACTAAGAGCCAGTGCC	0.527																																						uc001vsi.3		NaN																	0				large_intestine(2)|ovary(2)	4						c.(3331-3333)AAG>AAC		ATPase, class VI, type 11A isoform a							217.0	174.0	188.0					13																	113532536		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113532536G>C	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3333G>C	13.37:g.113532536G>C	ENSP00000420387:p.Lys1111Asn					ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA	p.K1111N	NM_015205	NP_056020	P98196	AT11A_HUMAN			29	3421	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	1111			Cytoplasmic (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.3333G>C	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	7.105	0.574937	0.13623	.	.	ENSG00000068650	ENST00000487903;ENST00000375645;ENST00000283558	T;T;T	0.39997	1.05;1.05;1.05	4.52	2.22	0.28083	.	.	.	.	.	T	0.33411	0.0862	L	0.50333	1.59	0.28221	N	0.926512	B	0.17852	0.024	B	0.17722	0.019	T	0.23190	-1.0195	9	0.27082	T	0.32	.	6.7757	0.23619	0.4852:0.0:0.5148:0.0	.	1111	P98196	AT11A_HUMAN	N	1111	ENSP00000420387:K1111N;ENSP00000364796:K1111N;ENSP00000283558:K1111N	ENSP00000283558:K1111N	K	+	3	2	ATP11A	112580537	1.000000	0.71417	0.893000	0.35052	0.660000	0.38997	0.888000	0.28268	0.780000	0.33566	0.462000	0.41574	AAG		0.527	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3		NM_015205		30	66	0	0	0	0.012213	0	30	66		
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						uc001vup.2		NaN																	8	Substitution - coding silent(8)		lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	skin(1)	1						c.(271-273)CTG>TTG		UPF3 regulator of nonsense transcripts homolog A							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA	p.L91L	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	308	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2				3	19	0	0	0	0.004672	0	3	19		
RPGRIP1	57096	broad.mit.edu	37	14	21792872	21792872	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:21792872C>G	ENST00000400017.2	+	14	1858	c.1858C>G	c.(1858-1860)Ctg>Gtg	p.L620V	RPGRIP1_ENST00000307974.4_Silent_p.L28L|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.L620V|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.L582V	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	620					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGATATTTCTCTGCTGCATCA	0.493																																						uc001wag.2		NaN																	0				ovary(4)|breast(2)|pancreas(1)	7						c.(1858-1860)CTG>GTG		retinitis pigmentosa GTPase regulator							132.0	126.0	128.0					14																	21792872		2018	4177	6195	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21792872C>G	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1858C>G	14.37:g.21792872C>G	ENSP00000382895:p.Leu620Val					RPGRIP1_uc001wah.2_Missense_Mutation_p.L262V|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.L85V|RPGRIP1_uc001wak.2_Missense_Mutation_p.L95V|RPGRIP1_uc010aim.2_Intron|RPGRIP1_uc001wal.2_Silent_p.L28L|RPGRIP1_uc001wam.2_5'UTR	p.L620V	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	14	1858	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	620					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1858C>G	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	9.448	1.089712	0.20390	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000554303	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	5.53	2.72	0.32119	.	0.558650	0.18524	N	0.138671	T	0.81202	0.4773	L	0.51422	1.61	0.80722	D	1	P;P;P	0.50272	0.933;0.933;0.89	P;P;B	0.44811	0.461;0.461;0.272	T	0.73467	-0.3973	10	0.15499	T	0.54	0.4128	5.6329	0.17520	0.0:0.6278:0.1435:0.2286	.	95;236;620	G3V3I7;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	V	582;620;620;95;82	ENSP00000451219:L582V;ENSP00000382895:L620V;ENSP00000206660:L620V;ENSP00000451262:L95V;ENSP00000450426:L82V	ENSP00000206660:L620V	L	+	1	2	RPGRIP1	20862712	0.000000	0.05858	0.433000	0.26760	0.914000	0.54420	1.095000	0.30964	0.441000	0.26529	0.655000	0.94253	CTG		0.493	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1		NM_020366		17	85	0	0	0	0.012319	0	17	85		
AJUBA	84962	broad.mit.edu	37	14	23444283	23444283	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:23444283G>T	ENST00000262713.2	-	5	1645	c.1270C>A	c.(1270-1272)Cca>Aca	p.P424T	AJUBA_ENST00000397388.3_Missense_Mutation_p.P7T|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.P424T	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	424	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										AAACAGCCTGGATGATAGGAC	0.517																																						uc001whz.2		NaN																	0					0						c.(1270-1272)CCA>ACA		ajuba isoform 1							111.0	104.0	106.0					14																	23444283		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444283G>T	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1270C>A	14.37:g.23444283G>T	ENSP00000262713:p.Pro424Thr					JUB_uc001why.2_Missense_Mutation_p.P7T	p.P424T	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	5	1646	-	all_cancers(95;4.6e-05)		424			LIM zinc-binding 2.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1270C>A	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548912	0.86127	.	.	ENSG00000129474	ENST00000262713;ENST00000397388;ENST00000361265;ENST00000553592;ENST00000556731;ENST00000553911	D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	6.17	5.29	0.74685	Zinc finger, LIM-type (4);	0.063358	0.64402	D	0.000006	D	0.93347	0.7879	M	0.86502	2.82	0.58432	D	0.999998	D	0.57571	0.98	D	0.67548	0.952	D	0.93213	0.6602	10	0.41790	T	0.15	.	13.1187	0.59314	0.0763:0.0:0.9237:0.0	.	424	Q96IF1	JUB_HUMAN	T	424;7;424;7;7;7	ENSP00000262713:P424T;ENSP00000380543:P7T;ENSP00000354491:P424T;ENSP00000452369:P7T;ENSP00000451649:P7T;ENSP00000452325:P7T	ENSP00000262713:P424T	P	-	1	0	JUB	22514123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.370000	0.97159	1.630000	0.50440	0.655000	0.94253	CCA		0.517	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2				29	103	1	0	1.06801e-11	0.009535	1.1248e-11	29	103		
CEBPE	1053	broad.mit.edu	37	14	23588121	23588121	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:23588121C>T	ENST00000206513.5	-	1	704	c.180G>A	c.(178-180)gtG>gtA	p.V60V		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	60					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GCGCTGGCTTCACGGCAAAGA	0.632																																					NSCLC(63;1230 1818 14565 22565)	uc001wiv.1		NaN																	0				ovary(2)	2						c.(178-180)GTG>GTA		CCAAT/enhancer binding protein epsilon							47.0	51.0	49.0					14																	23588121		2203	4300	6503	SO:0001819	synonymous_variant	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23588121C>T		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.180G>A	14.37:g.23588121C>T							p.V60V	NM_001805	NP_001796	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	1	354	-	all_cancers(95;4.6e-05)		60					Q15745|Q8IYI2|Q99803	Silent	SNP	ENST00000206513.5	37	c.180G>A	CCDS9589.1																																																																																				0.632	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2		NM_001805		33	62	0	0	0	0.004289	0	33	62		
CTSG	1511	broad.mit.edu	37	14	25044606	25044606	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:25044606C>G	ENST00000216336.2	-	2	104	c.68G>C	c.(67-69)gGa>gCa	p.G23A		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	23	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CTCCCGGCCTCCGATGATCTC	0.567																																						uc001wpq.2		NaN																	0				ovary(2)	2						c.(67-69)GGA>GCA		cathepsin G preproprotein							98.0	101.0	100.0					14																	25044606		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25044606C>G	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.68G>C	14.37:g.25044606C>G	ENSP00000216336:p.Gly23Ala						p.G23A	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	2	105	-			23			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.68G>C	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519793	0.64634	.	.	ENSG00000100448	ENST00000216336	D	0.95554	-3.74	5.38	5.38	0.77491	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37095	N	0.002246	D	0.98235	0.9416	M	0.93150	3.385	0.42825	D	0.994007	D	0.89917	1.0	D	0.83275	0.996	D	0.99320	1.0906	10	0.87932	D	0	.	15.0163	0.71588	0.0:1.0:0.0:0.0	.	23	P08311	CATG_HUMAN	A	23	ENSP00000216336:G23A	ENSP00000216336:G23A	G	-	2	0	CTSG	24114446	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	4.705000	0.61838	2.687000	0.91594	0.655000	0.94253	GGA		0.567	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2		NM_001911		108	128	0	0	0	0.01441	0	108	128		
AP4S1	11154	broad.mit.edu	37	14	31535513	31535513	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:31535513G>A	ENST00000542754.2	+	2	504	c.111G>A	c.(109-111)aaG>aaA	p.K37K	AP4S1_ENST00000313566.6_Silent_p.K37K|AP4S1_ENST00000554345.1_Silent_p.K37K|AP4S1_ENST00000554609.1_Silent_p.K37K|AP4S1_ENST00000216366.4_Silent_p.K37K|AP4S1_ENST00000334725.4_Silent_p.K37K	NM_001128126.2|NM_001254728.1	NP_001121598.1|NP_001241657.1	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit	37						coated pit (GO:0005905)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		AAGTCATAAAGAGCTGTCTCT	0.393																																					Pancreas(128;620 2365 4508 44145)	uc001wqy.3		NaN																	0					0						c.(109-111)AAG>AAA		adaptor-related protein complex 4, sigma 1							116.0	121.0	120.0					14																	31535513		2203	4300	6503	SO:0001819	synonymous_variant	11154					coated pit|Golgi apparatus	protein transporter activity	g.chr14:31535513G>A	AB030654	CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1	14q12	2012-06-29			ENSG00000100478	ENSG00000100478			575	protein-coding gene	gene with protein product		607243				10436028, 21620353	Standard	NM_007077		Approved	CLA20, AP47B, SPG52	uc001wqw.4	Q9Y587	OTTHUMG00000140202	ENST00000542754.2:c.111G>A	14.37:g.31535513G>A						AP4S1_uc001wqw.3_Silent_p.K37K|AP4S1_uc001wqx.3_Silent_p.K37K|AP4S1_uc010amh.2_Silent_p.K37K|AP4S1_uc001wqz.3_RNA	p.K37K	NM_001128126	NP_001121598	Q9Y587	AP4S1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)	2	493	+	Hepatocellular(127;0.0877)|Breast(36;0.176)		37					G3V2N8|Q6IAQ4|Q86U36|Q9BVE7	Silent	SNP	ENST00000542754.2	37	c.111G>A	CCDS45093.1																																																																																				0.393	AP4S1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409723.1				20	72	0	0	0	0.00278	0	20	72		
PPP2R3C	55012	broad.mit.edu	37	14	35557192	35557192	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:35557192G>A	ENST00000261475.5	-	12	1491	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	380					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TCTTGTCCATGGATTTTCATT	0.308																																						uc001wss.2		NaN																	0				ovary(1)	1						c.(1138-1140)CAT>TAT		serine/threonine-protein phosphatase 2A							87.0	85.0	86.0					14																	35557192		2203	4299	6502	SO:0001583	missense	55012					centrosome|nucleus	calcium ion binding	g.chr14:35557192G>A	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.1138C>T	14.37:g.35557192G>A	ENSP00000261475:p.His380Tyr					PPP2R3C_uc001wst.2_Missense_Mutation_p.H264Y|PPP2R3C_uc010tpr.1_Missense_Mutation_p.H264Y|PPP2R3C_uc001wsu.2_RNA	p.H380Y	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)	12	1492	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		380					B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	c.1138C>T	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565583	0.86439	.	.	ENSG00000092020	ENST00000261475;ENST00000555219	T;T	0.66815	-0.23;-0.2	5.64	5.64	0.86602	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72622	0.3483	L	0.53729	1.69	0.80722	D	1	D	0.63880	0.993	P	0.57776	0.827	T	0.65721	-0.6099	10	0.02654	T	1	-14.0224	20.0626	0.97684	0.0:0.0:1.0:0.0	.	380	Q969Q6	P2R3C_HUMAN	Y	380;55	ENSP00000261475:H380Y;ENSP00000452173:H55Y	ENSP00000261475:H380Y	H	-	1	0	PPP2R3C	34626943	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.164000	0.94755	2.807000	0.96579	0.591000	0.81541	CAT		0.308	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1		NM_017917		13	24	0	0	0	0.004007	0	13	24		
GMFB	2764	broad.mit.edu	37	14	54948149	54948149	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:54948149C>T	ENST00000358056.3	-	4	446	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	GMFB_ENST00000554908.1_3'UTR|GMFB_ENST00000553566.1_5'UTR	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	60	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of protein kinase activity (GO:0006469)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						TCAGGTAGTTCATCTTTAAGT	0.378																																						uc010tqz.1		NaN																	0					0						c.(178-180)GAA>AAA		glia maturation factor, beta							117.0	113.0	114.0					14																	54948149		2203	4300	6503	SO:0001583	missense	2764				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity	g.chr14:54948149C>T	M86492	CCDS9718.1	14q22.2	2010-07-06			ENSG00000197045	ENSG00000197045			4373	protein-coding gene	gene with protein product		601713				1712830	Standard	NM_004124		Approved	GMF	uc021rtf.1	P60983	OTTHUMG00000140307	ENST00000358056.3:c.178G>A	14.37:g.54948149C>T	ENSP00000350757:p.Glu60Lys					GMFB_uc001xaw.1_RNA	p.E60K	NM_004124	NP_004115	P60983	GMFB_HUMAN			4	277	-			60			ADF-H.		B2R499|P17774|Q9BS35	Missense_Mutation	SNP	ENST00000358056.3	37	c.178G>A	CCDS9718.1	.	.	.	.	.	.	.	.	.	.	C	36	5.752632	0.96890	.	.	ENSG00000197045	ENST00000358056;ENST00000354747;ENST00000553333	T;T	0.37584	1.19;1.19	5.79	5.79	0.91817	Actin-binding, cofilin/tropomyosin type (3);	0.120417	0.56097	D	0.000023	T	0.64768	0.2628	M	0.88105	2.93	0.80722	D	1	B	0.31910	0.346	P	0.48921	0.595	T	0.66748	-0.5845	10	0.72032	D	0.01	6.6523	20.0308	0.97536	0.0:1.0:0.0:0.0	.	60	P60983	GMFB_HUMAN	K	60;60;72	ENSP00000350757:E60K;ENSP00000451920:E72K	ENSP00000346789:E60K	E	-	1	0	GMFB	54017899	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.267000	0.78462	2.732000	0.93576	0.585000	0.79938	GAA		0.378	GMFB-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276903.2		NM_004124		6	42	0	0	0	0.004482	0	6	42		
ATG14	22863	broad.mit.edu	37	14	55852662	55852662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:55852662C>A	ENST00000247178.5	-	5	597	c.562G>T	c.(562-564)Gag>Tag	p.E188*		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	188					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GCCAGACGCTCATAATGACTT	0.423																																						uc001xbx.1		NaN																	0					0						c.(562-564)GAG>TAG		Barkor							141.0	124.0	130.0					14																	55852662		2203	4300	6503	SO:0001587	stop_gained	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55852662C>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.562G>T	14.37:g.55852662C>A	ENSP00000247178:p.Glu188*					FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.E75*	p.E188*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN			5	598	-			188					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Nonsense_Mutation	SNP	ENST00000247178.5	37	c.562G>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	c	19.38	3.816090	0.70912	.	.	ENSG00000126775	ENST00000247178	.	.	.	5.45	4.56	0.56223	.	0.624506	0.17107	N	0.186752	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.9329	9.0848	0.36574	0.146:0.7803:0.0:0.0736	.	.	.	.	X	188	.	ENSP00000247178:E188X	E	-	1	0	ATG14	54922415	0.975000	0.34042	0.904000	0.35570	0.494000	0.33585	3.158000	0.50723	1.299000	0.44798	0.650000	0.86243	GAG		0.423	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1		NM_014924		7	39	1	0	0.000442599	0.006214	0.000450819	7	39		
AKAP5	9495	broad.mit.edu	37	14	64936344	64936344	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:64936344T>G	ENST00000394718.4	+	2	1610	c.1232T>G	c.(1231-1233)cTg>cGg	p.L411R	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.L411R	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	411					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		ATAGAACAGCTGGTTAATGAA	0.348																																						uc001xhd.3		NaN																	0					0						c.(1231-1233)CTG>CGG		A-kinase anchor protein 5							82.0	90.0	87.0					14																	64936344		2203	4297	6500	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64936344T>G	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1232T>G	14.37:g.64936344T>G	ENSP00000378207:p.Leu411Arg					ZBTB25_uc001xhc.2_Intron	p.L411R	NM_004857	NP_004848	P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	2	1610	+			411					A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.1232T>G	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880264	0.72294	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.54866	0.55;0.55	5.42	5.42	0.78866	.	0.000000	0.42420	D	0.000718	T	0.61515	0.2353	L	0.29908	0.895	0.32934	D	0.517502	D	0.89917	1.0	D	0.91635	0.999	T	0.71955	-0.4436	10	0.87932	D	0	-23.6829	13.9812	0.64306	0.0:0.0:0.0:1.0	.	411	P24588	AKAP5_HUMAN	R	411	ENSP00000378207:L411R;ENSP00000315615:L411R	ENSP00000315615:L411R	L	+	2	0	AKAP5	64006097	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.755000	0.62198	2.176000	0.68965	0.482000	0.46254	CTG		0.348	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3				19	84	0	0	0	0.014323	0	19	84		
ARG2	384	broad.mit.edu	37	14	68086727	68086727	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:68086727C>T	ENST00000261783.3	+	1	213	c.33C>T	c.(31-33)ctC>ctT	p.L11L	Y_RNA_ENST00000364659.1_RNA|ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	11					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.L11L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CGCGTCTCCTCCAGACGCGAG	0.617																																						uc001xjs.2		NaN																	1	Substitution - coding silent(1)		kidney(1)		0						c.(31-33)CTC>CTT		arginase 2 precursor	L-Arginine(DB00125)|L-Ornithine(DB00129)						28.0	29.0	29.0					14																	68086727		2200	4295	6495	SO:0001819	synonymous_variant	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68086727C>T	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.33C>T	14.37:g.68086727C>T							p.L11L	NM_001172	NP_001163	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	1	149	+			11					B2R690|Q6FHY8	Silent	SNP	ENST00000261783.3	37	c.33C>T	CCDS9785.1																																																																																				0.617	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2		NM_001172		3	17	0	0	0	0.004672	0	3	17		
PNMA1	9240	broad.mit.edu	37	14	74179620	74179620	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:74179620C>T	ENST00000316836.3	-	1	1508	c.723G>A	c.(721-723)gaG>gaA	p.E241E		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	241					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ccctagagctctcaacgctcc	0.517																																						uc001xor.1		NaN																	0				ovary(1)	1						c.(721-723)GAG>GAA		paraneoplastic antigen MA1							66.0	74.0	71.0					14																	74179620		2203	4300	6503	SO:0001819	synonymous_variant	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179620C>T	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.723G>A	14.37:g.74179620C>T							p.E241E	NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1509	-			241					A8K4L5|O95144|Q8NG07	Silent	SNP	ENST00000316836.3	37	c.723G>A	CCDS9818.1																																																																																				0.517	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1		NM_006029		33	99	0	0	0	0.004878	0	33	99		
ZC3H14	79882	broad.mit.edu	37	14	89044479	89044479	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:89044479A>T	ENST00000251038.5	+	9	1499	c.1274A>T	c.(1273-1275)aAt>aTt	p.N425I	ZC3H14_ENST00000359301.3_Missense_Mutation_p.N391I|ZC3H14_ENST00000393514.5_Missense_Mutation_p.N425I|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N425I|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N425I|ZC3H14_ENST00000555755.1_Missense_Mutation_p.N425I|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.N270I|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N391I	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	425						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GTAGAAAAAAATCAAGGTAAT	0.343																																						uc001xww.2		NaN																	0				ovary(2)|skin(1)	3						c.(1273-1275)AAT>ATT		zinc finger CCCH-type containing 14 isoform 1							47.0	51.0	49.0					14																	89044479		2201	4299	6500	SO:0001583	missense	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89044479A>T	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1274A>T	14.37:g.89044479A>T	ENSP00000251038:p.Asn425Ile					ZC3H14_uc010twd.1_Missense_Mutation_p.N425I|ZC3H14_uc010twe.1_Missense_Mutation_p.N425I|ZC3H14_uc001xwx.2_Missense_Mutation_p.N425I|ZC3H14_uc010twf.1_Missense_Mutation_p.N270I|ZC3H14_uc001xwy.2_Missense_Mutation_p.N391I|ZC3H14_uc010twg.1_Missense_Mutation_p.N270I|ZC3H14_uc001xxa.2_5'UTR	p.N425I	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			9	1499	+			425					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.1274A>T	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.197|9.197	1.027465|1.027465	0.19512|0.19512	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000556000|ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.|.	.|.	.|.	5.29|5.29	-4.51|-4.51	0.03483|0.03483	.|.	.|1.111380	.|0.06441	.|N	.|0.725924	T|T	0.06917|0.06917	0.0176|0.0176	N|N	0.00289|0.00289	-1.7|-1.7	0.27820|0.27820	N|N	0.941813|0.941813	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.0;0.0;0.001;0.001;0.0;0.001	T|T	0.31696|0.31696	-0.9934|-0.9934	5|9	.|0.36615	.|T	.|0.2	0.7538|0.7538	6.1357|6.1357	0.20230|0.20230	0.1368:0.0:0.4318:0.4314|0.1368:0.0:0.4318:0.4314	.|.	.|425;406;425;425;425;425	.|G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.|.;.;.;.;.;ZC3HE_HUMAN	F|I	341|425;425;425;391;425;406;425;270;425;425;391	.|.	.|ENSP00000251038:N425I	I|N	+|+	1|2	0|0	ZC3H14|ZC3H14	88114232|88114232	0.994000|0.994000	0.37717|0.37717	0.570000|0.570000	0.28473|0.28473	0.343000|0.343000	0.28985|0.28985	0.149000|0.149000	0.16243|0.16243	-0.454000|-0.454000	0.07066|0.07066	-0.297000|-0.297000	0.09499|0.09499	ATC|AAT		0.343	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1		NM_024824		9	44	0	0	0	0.010729	0	9	44		
SLC24A4	123041	broad.mit.edu	37	14	92922835	92922835	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:92922835C>A	ENST00000532405.1	+	12	1364	c.1138C>A	c.(1138-1140)Cct>Act	p.P380T	SLC24A4_ENST00000531433.1_Missense_Mutation_p.P361T|SLC24A4_ENST00000298877.1_Missense_Mutation_p.P363T|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000393265.2_Missense_Mutation_p.P316T|SLC24A4_ENST00000351924.5_Missense_Mutation_p.P344T			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	380					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CGGGAATGTTCCTGTGGAAAA	0.597											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(10;315 435 10383 28450 38798)	uc001yak.2		NaN																	0				breast(2)|ovary(1)	3						c.(1087-1089)CCT>ACT		solute carrier family 24 member 4 isoform 1							87.0	76.0	80.0					14																	92922835		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92922835C>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1138C>A	14.37:g.92922835C>A	ENSP00000431840:p.Pro380Thr		OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1293	SLC24A4_uc001yai.2_Missense_Mutation_p.P316T|SLC24A4_uc010twm.1_Missense_Mutation_p.P361T|SLC24A4_uc001yaj.2_Missense_Mutation_p.P344T|SLC24A4_uc010auj.2_Missense_Mutation_p.P252T|SLC24A4_uc010twn.1_Missense_Mutation_p.P136T|SLC24A4_uc001yan.2_Missense_Mutation_p.P74T	p.P363T	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	12	1111	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	380			Extracellular (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1087C>A	CCDS9903.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.33|10.33	1.319438|1.319438	0.23994|0.23994	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079|ENST00000525557	T;T;T;T;T|.	0.68025|.	-0.29;0.12;0.1;-0.3;-0.29|.	4.81|4.81	3.92|3.92	0.45320|0.45320	.|.	1.069430|.	0.07275|.	N|.	0.869742|.	T|T	0.71986|0.71986	0.3405|0.3405	M|M	0.73962|0.73962	2.25|2.25	0.46185|0.46185	D|D	0.998914|0.998914	P;P;P|.	0.44521|.	0.837;0.721;0.57|.	P;B;B|.	0.44597|.	0.454;0.373;0.206|.	T|T	0.72093|0.72093	-0.4394|-0.4394	10|5	0.40728|.	T|.	0.16|.	.|.	13.0223|13.0223	0.58796|0.58796	0.0:0.9215:0.0:0.0785|0.0:0.9215:0.0:0.0785	.|.	361;316;380|.	Q8NFF2-3;Q8NFF2-2;Q8NFF2|.	.;.;NCKX4_HUMAN|.	T|Y	316;361;380;363;344;232|245	ENSP00000376948:P316T;ENSP00000433302:P361T;ENSP00000431840:P380T;ENSP00000298877:P363T;ENSP00000337789:P344T|.	ENSP00000298877:P363T|.	P|S	+|+	1|2	0|0	SLC24A4|SLC24A4	91992588|91992588	0.933000|0.933000	0.31639|0.31639	0.013000|0.013000	0.15412|0.15412	0.061000|0.061000	0.15899|0.15899	4.655000|4.655000	0.61476|0.61476	1.022000|1.022000	0.39626|0.39626	-0.258000|-0.258000	0.10820|0.10820	CCT|TCC		0.597	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1		NM_153646		38	51	1	0	6.33695e-27	0.007835	6.86663e-27	38	51		
HSP90AA1	3320	broad.mit.edu	37	14	102551654	102551654	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:102551654C>G	ENST00000216281.8	-	4	849	c.644G>C	c.(643-645)gGa>gCa	p.G215A	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.G36A|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.G337A	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	215					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	AATGGGATATCCAATAAACTG	0.378																																						uc001yku.3		NaN																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(643-645)GGA>GCA		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						83.0	69.0	74.0					14																	102551654		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551654C>G	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.644G>C	14.37:g.102551654C>G	ENSP00000216281:p.Gly215Ala					HSP90AA1_uc001ykv.3_Missense_Mutation_p.G337A|HSP90AA1_uc001ykw.1_Missense_Mutation_p.G36A|HSP90AA1_uc001ykx.1_Missense_Mutation_p.G204A	p.G215A	NM_005348	NP_005339	P07900	HS90A_HUMAN			4	834	-			215					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.644G>C	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	19.02	3.746010	0.69418	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.77358	-1.09;-1.09;3.03;-1.09	4.29	4.29	0.51040	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	U	0.000000	D	0.85448	0.5699	L	0.56280	1.765	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.81914	0.995;0.992;0.975	D	0.87570	0.2477	10	0.87932	D	0	-19.4782	17.1172	0.86692	0.0:1.0:0.0:0.0	.	36;337;215	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	A	215;337;36;146	ENSP00000216281:G215A;ENSP00000335153:G337A;ENSP00000396189:G36A;ENSP00000450712:G146A	ENSP00000216281:G215A	G	-	2	0	HSP90AA1	101621407	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.582000	0.82546	2.121000	0.65114	0.650000	0.86243	GGA		0.378	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2		NM_005348		4	32	0	0	0	0.009096	0	4	32		
OCA2	4948	broad.mit.edu	37	15	28326981	28326981	+	Missense_Mutation	SNP	C	C	T	rs368928996		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:28326981C>T	ENST00000354638.3	-	2	195	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	OCA2_ENST00000382996.2_Missense_Mutation_p.A14T|OCA2_ENST00000353809.5_Missense_Mutation_p.A14T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	14					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ACCGCCGGCGCGCCGGGGTAC	0.657									Oculocutaneous Albinism																													uc001zbh.3		NaN																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(40-42)GCG>ACG		oculocutaneous albinism II		T	THR/ALA	0,4138		0,0,2069	9.0	11.0	11.0		40	-6.2	0.0	15		11	2,8276		0,2,4137	no	missense	OCA2	NM_000275.2	58	0,2,6206	TT,TC,CC		0.0242,0.0,0.0161	benign	14/839	28326981	2,12414	2069	4139	6208	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28326981C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.40G>A	15.37:g.28326981C>T	ENSP00000346659:p.Ala14Thr					OCA2_uc010ayv.2_Missense_Mutation_p.A14T	p.A14T	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	2	150	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	14			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.40G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	c	2.061	-0.415441	0.04766	0.0	2.42E-4	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000445578;ENST00000431101	D;D;D;D;D	0.92699	-2.6;-2.58;-2.56;-3.09;-1.96	3.08	-6.15	0.02105	.	1.727610	0.03274	N	0.185133	T	0.82208	0.4987	N	0.08118	0	0.09310	N	1	B;B	0.30686	0.29;0.185	B;B	0.19946	0.027;0.019	T	0.75071	-0.3447	10	0.13470	T	0.59	-0.0711	17.6318	0.88111	0.0:0.136:0.0:0.864	.	14;14	Q04671-2;Q04671	.;P_HUMAN	T	14	ENSP00000346659:A14T;ENSP00000261276:A14T;ENSP00000372457:A14T;ENSP00000414425:A14T;ENSP00000415431:A14T	ENSP00000261276:A14T	A	-	1	0	OCA2	26000576	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.207000	0.01230	-3.699000	0.00119	-2.395000	0.00226	GCG		0.657	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1		NM_000275		12	30	0	0	0	0.00245	0	12	30		
RYR3	6263	broad.mit.edu	37	15	33916209	33916209	+	Silent	SNP	C	C	T	rs189828361		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:33916209C>T	ENST00000389232.4	+	20	2629	c.2559C>T	c.(2557-2559)ccC>ccT	p.P853P	RYR3_ENST00000415757.3_Silent_p.P853P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	853	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCCATGCCCCGTAGACACCA	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19407	0.0		0.0	False		,,,				2504	0.0					uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(2557-2559)CCC>CCT		ryanodine receptor 3							145.0	138.0	140.0					15																	33916209		1848	4099	5947	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33916209C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2559C>T	15.37:g.33916209C>T						RYR3_uc010bar.2_Silent_p.P853P	p.P853P	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	20	2629	+		all_lung(180;7.18e-09)	853			4 X approximate repeats.|1.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.2559C>T	CCDS45210.1																																																																																				0.438	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				76	129	0	0	0	0.01441	0	76	129		
BUB1B	701	broad.mit.edu	37	15	40512774	40512774	+	Silent	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:40512774T>C	ENST00000287598.6	+	23	3162	c.2967T>C	c.(2965-2967)gaT>gaC	p.D989D	RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron|BUB1B_ENST00000412359.3_Silent_p.D1003D|PAK6_ENST00000453867.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	989	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGCTAAAAGATGGTGAATTGT	0.358			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3		NaN	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				stomach(2)|ovary(1)|kidney(1)	4						c.(2965-2967)GAT>GAC		budding uninhibited by benzimidazoles 1 beta							88.0	91.0	90.0					15																	40512774		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40512774T>C	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2967T>C	15.37:g.40512774T>C						PAK6_uc010bbl.2_Intron|PAK6_uc010bbm.2_Intron	p.D989D	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	23	3179	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	989			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.2967T>C	CCDS10053.1																																																																																				0.358	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4				16	58	0	0	0	0.004007	0	16	58		
PLCB2	5330	broad.mit.edu	37	15	40594208	40594208	+	Missense_Mutation	SNP	G	G	A	rs577044557		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:40594208G>A	ENST00000260402.3	-	7	781	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.R178C|PLCB2_ENST00000543785.2_Missense_Mutation_p.R178C|PLCB2_ENST00000456256.2_Missense_Mutation_p.R178C	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	178					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACCCGCTTGCGGTCAGCAGGA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17307	0.0		0.001	False		,,,				2504	0.0					uc001zld.2		NaN																	0				ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(532-534)CGC>TGC		phospholipase C, beta 2							46.0	51.0	49.0					15																	40594208		1992	4170	6162	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40594208G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.532C>T	15.37:g.40594208G>A	ENSP00000260402:p.Arg178Cys					PLCB2_uc010bbo.2_Missense_Mutation_p.R178C|PLCB2_uc010ucm.1_Missense_Mutation_p.R178C|PLCB2_uc001zle.3_Missense_Mutation_p.R178C	p.R178C	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	7	833	-		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)	178					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.532C>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326912	0.81690	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.48836	0.8;0.8;0.8	4.72	4.72	0.59763	.	0.327925	0.14217	U	0.333663	T	0.67813	0.2933	M	0.78049	2.395	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	P;D;P;P	0.68621	0.852;0.959;0.735;0.899	T	0.69266	-0.5190	10	0.87932	D	0	.	12.589	0.56434	0.0:0.0:0.7352:0.2648	.	178;178;178;178	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	C	178	ENSP00000260402:R178C;ENSP00000411991:R178C;ENSP00000444652:R178C	ENSP00000260402:R178C	R	-	1	0	PLCB2	38381500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.581000	0.60949	2.626000	0.88956	0.555000	0.69702	CGC		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1				3	61	0	0	0	0.004672	0	3	61		
C15orf52	388115	broad.mit.edu	37	15	40627522	40627522	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:40627522C>T	ENST00000559313.1	-	11	1457	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	C15orf52_ENST00000397536.2_Missense_Mutation_p.G271E	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	481							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GAGCCCTGCTCCTCTCTGTGG	0.657																																						uc001zlh.3		NaN																	0				large_intestine(1)	1						c.(1441-1443)GGA>GAA		hypothetical protein LOC388115							48.0	54.0	52.0					15																	40627522		2203	4300	6503	SO:0001583	missense	388115							g.chr15:40627522C>T	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1442G>A	15.37:g.40627522C>T	ENSP00000453969:p.Gly481Glu					C15orf52_uc010ucn.1_Missense_Mutation_p.G271E	p.G481E	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	11	1458	-		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)	481					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.1442G>A	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	3.967	-0.009197	0.07727	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	.	.	.	5.0	-6.01	0.02199	.	1.042650	0.07536	N	0.913094	T	0.10208	0.0250	N	0.22421	0.69	0.09310	N	1	P;B	0.36683	0.565;0.008	B;B	0.26416	0.069;0.009	T	0.31447	-0.9943	9	0.02654	T	1	0.2932	3.6902	0.08343	0.1242:0.18:0.1224:0.5735	.	271;481	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	E	481;271	.	ENSP00000372135:G481E	G	-	2	0	C15orf52	38414814	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-1.354000	0.02614	-0.770000	0.04614	-0.251000	0.11542	GGA		0.657	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2		NM_207380		23	108	0	0	0	0.003954	0	23	108		
EHD4	30844	broad.mit.edu	37	15	42202032	42202032	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:42202032C>T	ENST00000220325.4	-	5	1037	c.954G>A	c.(952-954)aaG>aaA	p.K318K		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	318					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GCATCTCCTTCTTCAGGTAGC	0.438																																						uc001zot.2		NaN																	0				ovary(2)	2						c.(952-954)AAG>AAA		EH-domain containing 4							202.0	180.0	187.0					15																	42202032		2203	4299	6502	SO:0001819	synonymous_variant	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42202032C>T	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.954G>A	15.37:g.42202032C>T							p.K318K	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	5	1017	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	318					Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	c.954G>A	CCDS10081.1																																																																																				0.438	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2		NM_139265		17	54	0	0	0	0.010504	0	17	54		
LRRC57	255252	broad.mit.edu	37	15	42840409	42840409	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:42840409G>A	ENST00000323443.2	-	2	485	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F	LRRC57_ENST00000397130.3_Missense_Mutation_p.L40F|LRRC57_ENST00000563454.1_Missense_Mutation_p.L40F|HAUS2_ENST00000568846.2_5'Flank|HAUS2_ENST00000260372.3_5'Flank|HAUS2_ENST00000568876.1_5'Flank			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	40						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		ATGGTCCTGAGATTGCTCGTC	0.552																																						uc001zqd.1		NaN																	0					0						c.(118-120)CTC>TTC		leucine rich repeat containing 57							140.0	140.0	140.0					15																	42840409		2203	4299	6502	SO:0001583	missense	255252							g.chr15:42840409G>A	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.118C>T	15.37:g.42840409G>A	ENSP00000326817:p.Leu40Phe					HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Missense_Mutation_p.L40F	p.L40F	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN		GBM - Glioblastoma multiforme(94;6.87e-07)	2	486	-		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)	40			LRR 1.		Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	c.118C>T	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810630	0.90707	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.61859	0.07;0.07	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.83013	0.5162	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87830	0.2644	10	0.87932	D	0	.	12.8994	0.58117	0.0856:0.0:0.9144:0.0	.	40	Q8N9N7	LRC57_HUMAN	F	40	ENSP00000326817:L40F;ENSP00000380319:L40F	ENSP00000326817:L40F	L	-	1	0	LRRC57	40627701	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.166000	0.58203	2.584000	0.87258	0.563000	0.77884	CTC		0.552	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1		NM_153260		34	137	0	0	0	0.007835	0	34	137		
MAP1A	4130	broad.mit.edu	37	15	43816763	43816763	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:43816763G>T	ENST00000300231.5	+	4	3542	c.3092G>T	c.(3091-3093)gGa>gTa	p.G1031V	MAP1A_ENST00000382031.1_Missense_Mutation_p.G1269V|MAP1A_ENST00000399453.1_Missense_Mutation_p.G1031V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1031					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACTCCTGGGGAGACACTAAG	0.562																																						uc001zrt.2		NaN																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(3091-3093)GGA>GTA		microtubule-associated protein 1A	Estramustine(DB01196)						52.0	55.0	54.0					15																	43816763		2011	4157	6168	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816763G>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3092G>T	15.37:g.43816763G>T	ENSP00000300231:p.Gly1031Val						p.G1031V	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	3559	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1031					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.3092G>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.616381	0.28801	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01560	4.77;4.77;4.77	5.55	0.471	0.16752	.	0.250386	0.21081	N	0.080497	T	0.02119	0.0066	M	0.68952	2.095	0.46185	D	0.998918	P	0.46512	0.879	B	0.39258	0.295	T	0.61262	-0.7098	10	0.34782	T	0.22	-0.3822	5.0617	0.14560	0.4373:0.1463:0.4164:0.0	.	1031	P78559	MAP1A_HUMAN	V	1269;1031;1031	ENSP00000371462:G1269V;ENSP00000382380:G1031V;ENSP00000300231:G1031V	ENSP00000300231:G1031V	G	+	2	0	MAP1A	41604055	0.000000	0.05858	0.564000	0.28396	0.952000	0.60782	-0.142000	0.10311	-0.045000	0.13468	0.655000	0.94253	GGA		0.562	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		41	50	1	0	4.67007e-22	0.00874	5.03745e-22	41	50		
COPS2	9318	broad.mit.edu	37	15	49431772	49431772	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:49431772C>G	ENST00000388901.5	-	4	398	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q	COPS2_ENST00000542928.1_Missense_Mutation_p.E45Q|COPS2_ENST00000299259.6_Missense_Mutation_p.E109Q|Y_RNA_ENST00000363250.1_RNA	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	109					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATGGATTTTTCAGAATAATTT	0.313																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	uc001zxf.2		NaN																	0				lung(1)	1						c.(325-327)GAA>CAA		COP9 constitutive photomorphogenic homolog							63.0	68.0	66.0					15																	49431772		2196	4289	6485	SO:0001583	missense	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49431772C>G	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.325G>C	15.37:g.49431772C>G	ENSP00000373553:p.Glu109Gln					COPS2_uc001zxh.2_Missense_Mutation_p.E109Q|COPS2_uc010ufa.1_Missense_Mutation_p.E45Q	p.E109Q	NM_004236	NP_004227	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	4	404	-		all_lung(180;0.0428)	109					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	c.325G>C	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111220	0.94339	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	D	0.87935	0.2713	9	0.51188	T	0.08	-14.8722	18.9302	0.92561	0.0:1.0:0.0:0.0	.	45;110;109	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	Q	109;109;45	.	ENSP00000299259:E109Q	E	-	1	0	COPS2	47219064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.469000	0.83416	0.655000	0.94253	GAA		0.313	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1		NM_004236		31	34	0	0	0	0.003271	0	31	34		
DMXL2	23312	broad.mit.edu	37	15	51791720	51791720	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:51791720C>T	ENST00000251076.5	-	18	3988	c.3701G>A	c.(3700-3702)aGa>aAa	p.R1234K	DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234K|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1234						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTCTATAGATCTAAGAAGAAC	0.428																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(3700-3702)AGA>AAA		Dmx-like 2							185.0	159.0	168.0					15																	51791720		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791720C>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3701G>A	15.37:g.51791720C>T	ENSP00000251076:p.Arg1234Lys					DMXL2_uc010ufy.1_Missense_Mutation_p.R1234K|DMXL2_uc010bfa.2_Intron	p.R1234K	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	3926	-			1234					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3701G>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509808	0.85282	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.30714	1.53;1.52	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.80764	0.994;0.965	T	0.55685	-0.8102	10	0.56958	D	0.05	.	19.6332	0.95719	0.0:1.0:0.0:0.0	.	1234;1234	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	K	1234	ENSP00000251076:R1234K;ENSP00000441858:R1234K	ENSP00000251076:R1234K	R	-	2	0	DMXL2	49579012	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.461000	0.80834	2.645000	0.89757	0.591000	0.81541	AGA		0.428	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		30	53	0	0	0	0.012213	0	30	53		
WDR72	256764	broad.mit.edu	37	15	54003547	54003547	+	Silent	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:54003547A>G	ENST00000396328.1	-	8	1082	c.843T>C	c.(841-843)taT>taC	p.Y281Y	WDR72_ENST00000557913.1_Silent_p.Y280Y|WDR72_ENST00000559418.1_Silent_p.Y281Y|WDR72_ENST00000360509.5_Silent_p.Y281Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	281										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCAGCAGCTGATAGATGTAAC	0.448																																						uc002acj.2		NaN																	0				lung(1)|skin(1)	2						c.(841-843)TAT>TAC		WD repeat domain 72							116.0	108.0	111.0					15																	54003547		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:54003547A>G	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.843T>C	15.37:g.54003547A>G						WDR72_uc010bfi.1_Silent_p.Y281Y	p.Y281Y	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	8	885	-			281					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.843T>C	CCDS10151.1																																																																																				0.448	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2		NM_182758		34	58	0	0	0	0.004289	0	34	58		
PIGB	9488	broad.mit.edu	37	15	55611498	55611498	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:55611498C>T	ENST00000164305.5	+	1	341	c.50C>T	c.(49-51)gCc>gTc	p.A17V	RP11-139H15.1_ENST00000436697.2_RNA|RAB27A_ENST00000561545.1_5'Flank|RP11-139H15.1_ENST00000567948.1_RNA|RP11-139H15.1_ENST00000565225.1_RNA|PIGB_ENST00000569909.1_3'UTR|PIGB_ENST00000539642.1_5'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	17					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GGCGGAGATGCCAGCCTCACT	0.592																																						uc002act.2		NaN																	0					0						c.(49-51)GCC>GTC		phosphatidylinositol glycan, class B							23.0	27.0	26.0					15																	55611498		1932	4138	6070	SO:0001583	missense	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55611498C>T	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.50C>T	15.37:g.55611498C>T	ENSP00000164305:p.Ala17Val					uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR	p.A17V	NM_004855	NP_004846	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	1	366	+			17					Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37	c.50C>T		.	.	.	.	.	.	.	.	.	.	C	13.31	2.197677	0.38806	.	.	ENSG00000069943	ENST00000164305	T	0.54279	0.58	4.95	2.02	0.26589	.	0.963816	0.08614	N	0.919501	T	0.26991	0.0661	N	0.08118	0	0.20764	N	0.999854	B	0.10296	0.003	B	0.09377	0.004	T	0.25293	-1.0136	10	0.11485	T	0.65	0.4907	4.6924	0.12786	0.2019:0.1842:0.614:0.0	.	17	Q92521	PIGB_HUMAN	V	17	ENSP00000164305:A17V	ENSP00000164305:A17V	A	+	2	0	PIGB	53398790	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.004000	0.29822	0.270000	0.21984	-0.226000	0.12346	GCC		0.592	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1		NM_004855		3	20	0	0	0	0.004672	0	3	20		
LIPC	3990	broad.mit.edu	37	15	58855765	58855765	+	Missense_Mutation	SNP	G	G	C	rs559266901		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:58855765G>C	ENST00000356113.6	+	10	1846	c.1231G>C	c.(1231-1233)Ggc>Cgc	p.G411R	LIPC_ENST00000299022.5_Missense_Mutation_p.G411R|LIPC_ENST00000433326.2_Missense_Mutation_p.G350R|LIPC_ENST00000414170.3_Missense_Mutation_p.G411R			P11150	LIPC_HUMAN	lipase, hepatic	411	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TGTGGATATCGGCGAGCTGAT	0.468																																						uc010bga.1		NaN																	0				ovary(1)	1						c.(1231-1233)GGC>CGC		lipase C precursor							137.0	111.0	120.0					15																	58855765		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58855765G>C		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1231G>C	15.37:g.58855765G>C	ENSP00000348425:p.Gly411Arg					LIPC_uc010bfz.1_Missense_Mutation_p.G411R|LIPC_uc002afa.1_Missense_Mutation_p.G411R|LIPC_uc010bgb.1_Missense_Mutation_p.G309R|LIPC_uc010ugy.1_Missense_Mutation_p.G350R	p.G411R	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	10	1839	+		Colorectal(260;0.215)	411			PLAT.		A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.1231G>C	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623669	0.66901	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	T;D;T;T	0.90444	-1.21;-2.67;-1.21;-1.21	5.9	5.9	0.94986	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.85682	D	0.000000	D	0.96247	0.8776	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96169	0.9121	10	0.87932	D	0	.	20.282	0.98514	0.0:0.0:1.0:0.0	.	350;411	E7EUK6;P11150	.;LIPC_HUMAN	R	411;411;411;350	ENSP00000348425:G411R;ENSP00000395569:G411R;ENSP00000299022:G411R;ENSP00000395002:G350R	ENSP00000299022:G411R	G	+	1	0	LIPC	56643057	1.000000	0.71417	0.336000	0.25522	0.111000	0.19643	8.979000	0.93455	2.786000	0.95864	0.563000	0.77884	GGC		0.468	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1				31	139	0	0	0	0.004289	0	31	139		
HERC1	8925	broad.mit.edu	37	15	63908715	63908715	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:63908715C>T	ENST00000443617.2	-	75	13942	c.13855G>A	c.(13855-13857)Gag>Aag	p.E4619K		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4619	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCACCTCCTCCAGGTCCTCT	0.542																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(13855-13857)GAG>AAG		hect domain and RCC1-like domain 1							61.0	63.0	62.0					15																	63908715		1940	4149	6089	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63908715C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13855G>A	15.37:g.63908715C>T	ENSP00000390158:p.Glu4619Lys						p.E4619K	NM_003922	NP_003913	Q15751	HERC1_HUMAN			75	14003	-			4619			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.13855G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350850	0.95830	.	.	ENSG00000103657	ENST00000443617	T	0.58940	0.3	4.8	4.8	0.61643	HECT (4);	0.000000	0.85682	D	0.000000	T	0.74824	0.3767	M	0.65975	2.015	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.77083	-0.2719	10	0.56958	D	0.05	.	18.2549	0.90016	0.0:1.0:0.0:0.0	.	4619	Q15751	HERC1_HUMAN	K	4619	ENSP00000390158:E4619K	ENSP00000390158:E4619K	E	-	1	0	HERC1	61695768	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.375000	0.81037	0.555000	0.69702	GAG		0.542	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		25	51	0	0	0	0.00278	0	25	51		
HERC1	8925	broad.mit.edu	37	15	63948074	63948074	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:63948074G>A	ENST00000443617.2	-	50	10038	c.9951C>T	c.(9949-9951)ctC>ctT	p.L3317L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3317					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAATTCCTCGGAGAAAGCTGG	0.443																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(9949-9951)CTC>CTT		hect domain and RCC1-like domain 1							49.0	46.0	47.0					15																	63948074		1848	4088	5936	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63948074G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9951C>T	15.37:g.63948074G>A							p.L3317L	NM_003922	NP_003913	Q15751	HERC1_HUMAN			50	10099	-			3317					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.9951C>T	CCDS45277.1																																																																																				0.443	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		11	8	0	0	0	0.00245	0	11	8		
HERC1	8925	broad.mit.edu	37	15	64010869	64010869	+	Silent	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:64010869T>C	ENST00000443617.2	-	21	3969	c.3882A>G	c.(3880-3882)tcA>tcG	p.S1294S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1294					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTACACTTCTGATAAGTGTT	0.358																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(3880-3882)TCA>TCG		hect domain and RCC1-like domain 1							72.0	62.0	65.0					15																	64010869		1831	4096	5927	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64010869T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3882A>G	15.37:g.64010869T>C						HERC1_uc010uil.1_Intron	p.S1294S	NM_003922	NP_003913	Q15751	HERC1_HUMAN			21	4030	-			1294					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.3882A>G	CCDS45277.1																																																																																				0.358	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		3	8	0	0	0	0.004672	0	3	8		
HERC1	8925	broad.mit.edu	37	15	64067652	64067652	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:64067652G>C	ENST00000443617.2	-	2	258	c.171C>G	c.(169-171)ctC>ctG	p.L57L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	57					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTGGTCCTTTGAGGCATAAAA	0.443																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(169-171)CTC>CTG		hect domain and RCC1-like domain 1							75.0	73.0	74.0					15																	64067652		1926	4133	6059	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64067652G>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.171C>G	15.37:g.64067652G>C						HERC1_uc010uil.1_Silent_p.L57L|HERC1_uc010bgt.1_Silent_p.L57L|HERC1_uc002amq.1_Silent_p.L57L	p.L57L	NM_003922	NP_003913	Q15751	HERC1_HUMAN			2	319	-			57					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.171C>G	CCDS45277.1																																																																																				0.443	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		17	41	0	0	0	0.012319	0	17	41		
PPIB	5479	broad.mit.edu	37	15	64455081	64455081	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:64455081C>T	ENST00000300026.3	-	1	323	c.105G>A	c.(103-105)gaG>gaA	p.E35E	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	35					bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CCTTCTTCTTCTCATCGGCCG	0.667																																					GBM(105;399 1481 32889 33051 36637)	uc002and.2		NaN																	0					0						c.(103-105)GAG>GAA		peptidylprolyl isomerase B precursor	L-Proline(DB00172)						20.0	23.0	22.0					15																	64455081		2203	4299	6502	SO:0001819	synonymous_variant	5479				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr15:64455081C>T		CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.105G>A	15.37:g.64455081C>T						PPIB_uc010bgx.1_Silent_p.E27E	p.E35E	NM_000942	NP_000933	P23284	PPIB_HUMAN			1	274	-			35					A8K534|Q6IBH5|Q9BVK5	Silent	SNP	ENST00000300026.3	37	c.105G>A	CCDS10191.1																																																																																				0.667	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1				8	23	0	0	0	0.006214	0	8	23		
VWA9	81556	broad.mit.edu	37	15	65871971	65871971	+	Silent	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:65871971A>C	ENST00000395644.4	-	12	1667	c.1332T>G	c.(1330-1332)gcT>gcG	p.A444A	VWA9_ENST00000313182.2_Silent_p.A444A|VWA9_ENST00000442903.3_Silent_p.A408A|VWA9_ENST00000420799.2_Silent_p.A387A|VWA9_ENST00000569491.1_Silent_p.A394A|VWA9_ENST00000431261.2_Silent_p.A365A|VWA9_ENST00000567744.1_Silent_p.A480A			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	444																	CAAAGGCTAGAGCGGCCTTTC	0.507																																						uc002apd.2		NaN																	0				ovary(1)	1						c.(1330-1332)GCT>GCG		hypothetical protein LOC81556 isoform 2							54.0	48.0	50.0					15																	65871971		2201	4299	6500	SO:0001819	synonymous_variant	81556							g.chr15:65871971A>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1332T>G	15.37:g.65871971A>C						C15orf44_uc010uix.1_Silent_p.A480A|C15orf44_uc010uiz.1_Silent_p.A408A|C15orf44_uc010uja.1_Silent_p.A394A|C15orf44_uc010ujb.1_Silent_p.A365A|C15orf44_uc002ape.3_Silent_p.A444A|C15orf44_uc010uiy.1_Silent_p.A365A	p.A444A	NM_030800	NP_110427	Q96SY0	CO044_HUMAN			12	1668	-			444					B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	ENST00000395644.4	37	c.1332T>G																																																																																					0.507	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3		NM_030800		15	53	0	0	0	0.00499	0	15	53		
GLCE	26035	broad.mit.edu	37	15	69561007	69561007	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:69561007G>C	ENST00000261858.2	+	5	1506	c.1278G>C	c.(1276-1278)gtG>gtC	p.V426V	GLCE_ENST00000559420.2_Silent_p.V362V|GLCE_ENST00000559500.1_3'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	426					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CAATTATGGTGACCCGTAAGT	0.488																																						uc002ary.1		NaN																	0				ovary(2)	2						c.(1276-1278)GTG>GTC		D-glucuronyl C5-epimerase							78.0	70.0	73.0					15																	69561007		2200	4298	6498	SO:0001819	synonymous_variant	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69561007G>C	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1278G>C	15.37:g.69561007G>C							p.V426V	NM_015554	NP_056369	O94923	GLCE_HUMAN			5	1506	+			426			Lumenal (Potential).		Q6GUQ2	Silent	SNP	ENST00000261858.2	37	c.1278G>C	CCDS32277.1																																																																																				0.488	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_015554		29	48	0	0	0	0.012213	0	29	48		
GLCE	26035	broad.mit.edu	37	15	69561321	69561321	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:69561321G>A	ENST00000261858.2	+	5	1820	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	GLCE_ENST00000559420.2_Missense_Mutation_p.G467E	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	531					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GAAAAACTCGGAAAAGAAGCA	0.428																																						uc002ary.1		NaN																	0				ovary(2)	2						c.(1591-1593)GGA>GAA		D-glucuronyl C5-epimerase							112.0	103.0	106.0					15																	69561321		2200	4298	6498	SO:0001583	missense	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69561321G>A	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1592G>A	15.37:g.69561321G>A	ENSP00000261858:p.Gly531Glu						p.G531E	NM_015554	NP_056369	O94923	GLCE_HUMAN			5	1820	+			531			Lumenal (Potential).		Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	c.1592G>A	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471791	0.43942	.	.	ENSG00000138604	ENST00000261858	T	0.39997	1.05	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.55341	-0.8156	10	0.42905	T	0.14	-21.4487	17.1884	0.86872	0.0:0.0:1.0:0.0	.	531	O94923	GLCE_HUMAN	E	531	ENSP00000261858:G531E	ENSP00000261858:G531E	G	+	2	0	GLCE	67348375	1.000000	0.71417	0.196000	0.23383	0.027000	0.11550	9.641000	0.98458	2.480000	0.83734	0.557000	0.71058	GGA		0.428	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_015554		19	44	0	0	0	0.00333	0	19	44		
KIF23	9493	broad.mit.edu	37	15	69737226	69737226	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:69737226C>T	ENST00000260363.4	+	19	2594	c.2477C>T	c.(2476-2478)tCt>tTt	p.S826F	KIF23_ENST00000395392.2_Missense_Mutation_p.S819F|KIF23_ENST00000537891.1_Missense_Mutation_p.S539F|KIF23_ENST00000558585.1_Missense_Mutation_p.S539F|KIF23_ENST00000352331.4_Missense_Mutation_p.S722F|KIF23_ENST00000559279.1_Missense_Mutation_p.S722F	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	826	Interaction with ARF6.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAGCCCGCCTCTAACATGCAA	0.478																																						uc002asb.2		NaN																	0					0						c.(2476-2478)TCT>TTT		kinesin family member 23 isoform 1							117.0	101.0	107.0					15																	69737226		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69737226C>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2477C>T	15.37:g.69737226C>T	ENSP00000260363:p.Ser826Phe					KIF23_uc002asc.2_Missense_Mutation_p.S722F|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Missense_Mutation_p.S539F	p.S826F	NM_138555	NP_612565	Q02241	KIF23_HUMAN			19	2594	+			826					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2477C>T	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726706	0.48833	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T	0.77489	-0.91;-0.92;-1.1	5.26	5.26	0.73747	.	0.419105	0.28641	N	0.014640	T	0.79155	0.4398	L	0.59436	1.845	0.37889	D	0.93066	B;P;B	0.46220	0.006;0.874;0.014	B;P;B	0.47528	0.008;0.549;0.028	D	0.83705	0.0184	10	0.72032	D	0.01	.	13.5856	0.61928	0.0:0.8444:0.1556:0.0	.	539;722;826	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	F	826;722;826;539	ENSP00000260363:S826F;ENSP00000304978:S722F;ENSP00000442969:S539F	ENSP00000260363:S826F	S	+	2	0	KIF23	67524280	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.528000	0.45624	2.465000	0.83290	0.655000	0.94253	TCT		0.478	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding					56	78	0	0	0	0.01441	0	56	78		
ARID3B	10620	broad.mit.edu	37	15	74836792	74836792	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:74836792G>C	ENST00000346246.5	+	2	746	c.515G>C	c.(514-516)gGa>gCa	p.G172A		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	172						nucleus (GO:0005634)	DNA binding (GO:0003677)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCCACAGCAGGACAGCCGAAC	0.512																																						uc002aye.2		NaN																	0					0						c.(514-516)GGA>GCA		AT rich interactive domain 3B							71.0	57.0	61.0					15																	74836792		2197	4296	6493	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74836792G>C		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.515G>C	15.37:g.74836792G>C	ENSP00000343126:p.Gly172Ala					ARID3B_uc002ayc.2_Missense_Mutation_p.G172A|ARID3B_uc002ayd.2_Missense_Mutation_p.G172A	p.G172A	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN			2	716	+			172					O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.515G>C	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468796	0.26335	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.53640	0.61	5.5	4.59	0.56863	.	0.259916	0.37809	N	0.001929	T	0.27419	0.0673	L	0.27053	0.805	0.54753	D	0.999986	B;P;B	0.35575	0.104;0.51;0.199	B;B;B	0.31442	0.036;0.13;0.097	T	0.06570	-1.0819	10	0.08381	T	0.77	-19.9786	8.6515	0.34038	0.0764:0.0:0.7739:0.1497	.	172;172;172	Q8IVW6;Q8IVW6-4;B4DQB0	ARI3B_HUMAN;.;.	A	172	ENSP00000343126:G172A	ENSP00000343126:G172A	G	+	2	0	ARID3B	72623845	1.000000	0.71417	0.831000	0.32960	0.272000	0.26649	3.607000	0.54102	1.322000	0.45245	0.650000	0.86243	GGA		0.512	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2		NM_006465		25	37	0	0	0	0.008361	0	25	37		
CYP1A2	1544	broad.mit.edu	37	15	75043585	75043585	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:75043585G>C	ENST00000343932.4	+	3	950	c.887G>C	c.(886-888)aGa>aCa	p.R296T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	296					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	AAGGGGCCTAGAGCCAGCGGC	0.557																																						uc002ayr.1		NaN																	0				ovary(3)|breast(1)	4						c.(886-888)AGA>ACA		cytochrome P450, family 1, subfamily A,	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						137.0	110.0	119.0					15																	75043585		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75043585G>C	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.887G>C	15.37:g.75043585G>C	ENSP00000342007:p.Arg296Thr						p.R296T	NM_000761	NP_000752	P05177	CP1A2_HUMAN			3	951	+			296					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.887G>C	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	9.872	1.199261	0.22121	.	.	ENSG00000140505	ENST00000343932	T	0.78707	-1.2	4.85	-3.16	0.05217	.	1.070360	0.07124	N	0.844403	T	0.54159	0.1841	N	0.04746	-0.17	0.09310	N	1	B	0.25272	0.122	B	0.26693	0.072	T	0.39860	-0.9593	10	0.38643	T	0.18	.	5.9778	0.19391	0.4175:0.3868:0.1957:0.0	.	296	P05177-2	.	T	296	ENSP00000342007:R296T	ENSP00000342007:R296T	R	+	2	0	CYP1A2	72830638	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.099000	0.11007	-0.900000	0.03896	0.462000	0.41574	AGA		0.557	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2		NM_000761		40	61	0	0	0	0.009718	0	40	61		
RCN2	5955	broad.mit.edu	37	15	77241555	77241555	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:77241555G>A	ENST00000394885.3	+	7	1169	c.946G>A	c.(946-948)Gag>Aag	p.E316K	RCN2_ENST00000320963.5_Missense_Mutation_p.E334K|RCN2_ENST00000394883.3_Missense_Mutation_p.E215K	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	316						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CTATCATGATGAGCTTTAATC	0.388																																						uc002bcd.2		NaN																	0					0						c.(946-948)GAG>AAG		reticulocalbin 2 precursor							81.0	80.0	81.0					15																	77241555		2196	4294	6490	SO:0001583	missense	5955					endoplasmic reticulum lumen	calcium ion binding	g.chr15:77241555G>A	X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.946G>A	15.37:g.77241555G>A	ENSP00000378349:p.Glu316Lys					RCN2_uc002bce.2_Missense_Mutation_p.E388K|RCN2_uc010bks.2_Missense_Mutation_p.E269K	p.E316K	NM_002902	NP_002893	Q14257	RCN2_HUMAN			7	1167	+			316			Prevents secretion from ER (Potential).		A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	37	c.946G>A	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	G	33	5.235753	0.95240	.	.	ENSG00000117906	ENST00000394885;ENST00000320963;ENST00000394883	D;T;T	0.83992	-1.79;-0.97;0.27	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.92064	0.7485	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.83275	0.996;0.995;0.985	D	0.92130	0.5711	10	0.87932	D	0	-29.4506	20.3011	0.98612	0.0:0.0:1.0:0.0	.	215;334;316	A8MXP8;F8WCY5;Q14257	.;.;RCN2_HUMAN	K	316;334;215	ENSP00000378349:E316K;ENSP00000319739:E334K;ENSP00000378347:E215K	ENSP00000319739:E334K	E	+	1	0	RCN2	75028610	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	9.015000	0.93640	2.809000	0.96659	0.555000	0.69702	GAG		0.388	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1		NM_002902		13	65	0	0	0	0.003163	0	13	65		
ARNT2	9915	broad.mit.edu	37	15	80767365	80767365	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:80767365C>G	ENST00000303329.4	+	5	588	c.423C>G	c.(421-423)ctC>ctG	p.L141L	ARNT2_ENST00000533983.1_Silent_p.L130L|ARNT2_ENST00000527771.1_Silent_p.L130L|ARNT2_ENST00000531595.3_3'UTR	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	141	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGAAGCATCTCATCCTTGAAG	0.453																																						uc002bfr.2		NaN																	0				central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(421-423)CTC>CTG		aryl hydrocarbon receptor nuclear translocator							272.0	276.0	274.0					15																	80767365		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80767365C>G	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.423C>G	15.37:g.80767365C>G						ARNT2_uc002bfq.2_Silent_p.L141L|ARNT2_uc010unm.1_Silent_p.L130L|ARNT2_uc002bfs.2_Silent_p.L130L	p.L141L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		5	589	+			141			PAS 1.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.423C>G	CCDS32307.1																																																																																				0.453	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2				6	382	0	0	0	0.001984	0	6	382		
ABHD17C	58489	broad.mit.edu	37	15	80988240	80988240	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:80988240C>T	ENST00000258884.4	+	1	597	c.470C>T	c.(469-471)tCc>tTc	p.S157F	ABHD17C_ENST00000560609.1_Intron|ABHD17C_ENST00000558464.1_Missense_Mutation_p.S157F|RP11-28H5.2_ENST00000607458.1_lincRNA	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	157							hydrolase activity (GO:0016787)										GGCCTCGGCTCCCGCATCAAC	0.637																																						uc002bfu.2		NaN																	0					0						c.(469-471)TCC>TTC		hypothetical protein LOC58489							19.0	15.0	16.0					15																	80988240		2182	4259	6441	SO:0001583	missense	58489						hydrolase activity	g.chr15:80988240C>T		CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.470C>T	15.37:g.80988240C>T	ENSP00000258884:p.Ser157Phe					FAM108C1_uc002bft.2_Missense_Mutation_p.S150F	p.S157F	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN			1	589	+			157					Q1RMD6|Q9NPM1	Missense_Mutation	SNP	ENST00000258884.4	37	c.470C>T	CCDS45323.1	.	.	.	.	.	.	.	.	.	.	C	8.684	0.905845	0.17760	.	.	ENSG00000136379	ENST00000258884	T	0.47869	0.83	4.86	4.86	0.63082	.	0.237466	0.35179	U	0.003388	T	0.40067	0.1102	L	0.41906	1.305	0.80722	D	1	B;B	0.11235	0.003;0.004	B;B	0.18561	0.022;0.013	T	0.27773	-1.0064	10	0.10902	T	0.67	.	18.0026	0.89202	0.0:1.0:0.0:0.0	.	157;157	Q6PCB6;Q6PCB6-2	F108C_HUMAN;.	F	157	ENSP00000258884:S157F	ENSP00000258884:S157F	S	+	2	0	FAM108C1	78775295	1.000000	0.71417	0.927000	0.36925	0.002000	0.02628	7.131000	0.77243	2.233000	0.73108	0.557000	0.71058	TCC		0.637	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1		NM_021214		4	16	0	0	0	0.000602	0	4	16		
STARD5	80765	broad.mit.edu	37	15	81605709	81605709	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:81605709T>C	ENST00000302824.6	-	6	555	c.530A>G	c.(529-531)cAt>cGt	p.H177R		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	177	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GAGGTCGGTATGGAAGAATGT	0.562																																						uc002bgm.2		NaN																	0				ovary(1)	1						c.(529-531)CAT>CGT		StAR-related lipid transfer protein 5							192.0	163.0	173.0					15																	81605709		2203	4300	6503	SO:0001583	missense	80765				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	g.chr15:81605709T>C	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.530A>G	15.37:g.81605709T>C	ENSP00000304032:p.His177Arg					STARD5_uc002bgn.2_Missense_Mutation_p.H70R	p.H177R	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN			6	614	-			177			START.		P59094	Missense_Mutation	SNP	ENST00000302824.6	37	c.530A>G	CCDS10318.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272489	0.40194	.	.	ENSG00000172345	ENST00000302824	T	0.79940	-1.32	5.07	5.07	0.68467	Lipid-binding START (3);START-like domain (1);	0.134156	0.51477	D	0.000083	T	0.67021	0.2849	N	0.19112	0.55	0.37251	D	0.906576	P	0.44241	0.829	B	0.35813	0.211	T	0.74942	-0.3492	10	0.46703	T	0.11	-6.8413	15.1212	0.72443	0.0:0.0:0.0:1.0	.	177	Q9NSY2	STAR5_HUMAN	R	177	ENSP00000304032:H177R	ENSP00000304032:H177R	H	-	2	0	STARD5	79392764	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	6.871000	0.75531	2.028000	0.59812	0.459000	0.35465	CAT		0.562	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2				58	86	0	0	0	0.01441	0	58	86		
ALPK3	57538	broad.mit.edu	37	15	85407673	85407673	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:85407673G>A	ENST00000258888.5	+	12	5273	c.5106G>A	c.(5104-5106)gaG>gaA	p.E1702E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1702	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTATGTTTAGGATCATCCCAC	0.517																																						uc002ble.2		NaN																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(5104-5106)GAG>GAA		alpha-kinase 3							83.0	73.0	76.0					15																	85407673		2203	4299	6502	SO:0001630	splice_region_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85407673G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5106-1G>A	15.37:g.85407673G>A						ALPK3_uc010upc.1_Silent_p.R3R	p.E1702E	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		12	5273	+			1702			Alpha-type protein kinase.		Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.5106G>A	CCDS10333.1																																																																																				0.517	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1		NM_020778	Silent	41	66	0	0	0	0.011902	0	41	66		
AKAP13	11214	broad.mit.edu	37	15	86122380	86122380	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:86122380G>A	ENST00000394518.2	+	7	1176	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	AKAP13_ENST00000361243.2_Missense_Mutation_p.E361K|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	361					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAGCATAGTTGAGGAGGAGAA	0.493																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NaN																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(1081-1083)GAG>AAG		A-kinase anchor protein 13 isoform 2							69.0	70.0	70.0					15																	86122380		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86122380G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1081G>A	15.37:g.86122380G>A	ENSP00000378026:p.Glu361Lys					AKAP13_uc002blt.1_Missense_Mutation_p.E361K|AKAP13_uc002blu.1_Missense_Mutation_p.E361K	p.E361K	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	1251	+			361					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.1081G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785477	0.31593	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.09911	2.94;2.93	5.5	-2.0	0.07433	.	.	.	.	.	T	0.04952	0.0133	N	0.11560	0.145	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.42766	-0.9432	9	0.27785	T	0.31	.	7.1313	0.25502	0.1527:0.4501:0.3972:0.0	.	361;361	Q12802;Q12802-2	AKP13_HUMAN;.	K	361;361;360;360	ENSP00000354718:E361K;ENSP00000378026:E361K	ENSP00000354718:E361K	E	+	1	0	AKAP13	83923384	0.000000	0.05858	0.014000	0.15608	0.034000	0.12701	-0.141000	0.10327	-0.257000	0.09459	0.643000	0.83706	GAG		0.493	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1		NM_007200		11	52	0	0	0	0.008291	0	11	52		
MAN2A2	4122	broad.mit.edu	37	15	91450061	91450061	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:91450061G>A	ENST00000559717.1	+	7	1386	c.927G>A	c.(925-927)atG>atA	p.M309I	MAN2A2_ENST00000360468.3_Missense_Mutation_p.M309I|MAN2A2_ENST00000431652.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	309					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCACCAGCATGCTGATTCAGA	0.597																																						uc010bnz.2		NaN																	0				large_intestine(2)|ovary(1)	3						c.(925-927)ATG>ATA		mannosidase, alpha, class 2A, member 2							86.0	76.0	80.0					15																	91450061		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91450061G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.927G>A	15.37:g.91450061G>A	ENSP00000452948:p.Met309Ile					MAN2A2_uc010boa.2_Missense_Mutation_p.M351I|MAN2A2_uc002bqc.2_Missense_Mutation_p.M309I|MAN2A2_uc010uql.1_Missense_Mutation_p.M13I|MAN2A2_uc010uqm.1_5'Flank	p.M309I	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		7	1042	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		309			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.927G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345854	0.95807	.	.	ENSG00000196547	ENST00000360468	T	0.21734	1.99	5.65	5.65	0.86999	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	M	0.82056	2.57	0.80722	D	1	D;D	0.63046	0.991;0.992	P;D	0.70227	0.904;0.968	T	0.52041	-0.8628	10	0.59425	D	0.04	-46.7129	19.7827	0.96424	0.0:0.0:1.0:0.0	.	309;309	P49641-1;P49641	.;MA2A2_HUMAN	I	309	ENSP00000353655:M309I	ENSP00000353655:M309I	M	+	3	0	MAN2A2	89251065	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.859000	0.99545	2.686000	0.91538	0.442000	0.29010	ATG		0.597	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5		NM_006122		24	69	0	0	0	0.00333	0	24	69		
SV2B	9899	broad.mit.edu	37	15	91810843	91810843	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:91810843T>C	ENST00000394232.1	+	8	1648	c.1178T>C	c.(1177-1179)cTg>cCg	p.L393P	SV2B_ENST00000545111.2_Missense_Mutation_p.L242P|SV2B_ENST00000330276.4_Missense_Mutation_p.L393P	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	393					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACACTGATTCTGGCCGTGGTT	0.443																																						uc002bqv.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1177-1179)CTG>CCG		synaptic vesicle protein 2B homolog							263.0	223.0	236.0					15																	91810843		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91810843T>C	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1178T>C	15.37:g.91810843T>C	ENSP00000377779:p.Leu393Pro					SV2B_uc002bqt.2_Missense_Mutation_p.L393P|SV2B_uc010uqv.1_Missense_Mutation_p.L242P|SV2B_uc002bqu.3_RNA	p.L393P	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		7	1569	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		393			Helical; (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.1178T>C	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373532	0.82573	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.62941	-0.01;-0.01;-0.01	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.139643	0.50627	D	0.000116	D	0.83317	0.5228	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87389	0.2362	10	0.72032	D	0.01	-13.3555	14.254	0.66038	0.0:0.0:0.0:1.0	.	393	Q7L1I2	SV2B_HUMAN	P	242;393;393	ENSP00000443243:L242P;ENSP00000377779:L393P;ENSP00000332818:L393P	ENSP00000332818:L393P	L	+	2	0	SV2B	89611847	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.105000	0.77031	2.040000	0.60383	0.460000	0.39030	CTG		0.443	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3		NM_014848		4	28	0	0	0	0.001168	0	4	28		
LINS	55180	broad.mit.edu	37	15	101112154	101112154	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr15:101112154C>T	ENST00000314742.8	-	6	1561	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	447								p.D447Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AGCATGTCATCGTCTTGTTCT	0.448																																						uc002bwe.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(1339-1341)GAT>AAT		lines homolog 1							105.0	100.0	102.0					15																	101112154		2203	4300	6503	SO:0001583	missense	55180							g.chr15:101112154C>T	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1339G>A	15.37:g.101112154C>T	ENSP00000318423:p.Asp447Asn					LINS1_uc002bwd.2_Missense_Mutation_p.D34N|LINS1_uc002bwf.2_Missense_Mutation_p.D447N|LINS1_uc002bwg.2_Missense_Mutation_p.D447N|LINS1_uc002bwh.2_Missense_Mutation_p.D447N	p.D447N	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		7	1630	-	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		447					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.1339G>A	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418867	0.96092	.	.	ENSG00000140471	ENST00000314742	T	0.38887	1.11	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71087	-0.4694	10	0.87932	D	0	-24.1867	20.6593	0.99626	0.0:1.0:0.0:0.0	.	447	Q8NG48	LINES_HUMAN	N	447	ENSP00000318423:D447N	ENSP00000318423:D447N	D	-	1	0	LINS	98929677	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	6.227000	0.72282	2.885000	0.99019	0.655000	0.94253	GAT		0.448	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1		NM_018148		39	48	0	0	0	0.01441	0	39	48		
TELO2	9894	broad.mit.edu	37	16	1559872	1559872	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:1559872G>T	ENST00000262319.6	+	21	2728	c.2449G>T	c.(2449-2451)Gca>Tca	p.A817S		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	817					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CAGGACGCTGGCACTGAGGGC	0.642																																						uc002cly.2		NaN																	0					0						c.(2449-2451)GCA>TCA		TEL2, telomere maintenance 2, homolog							56.0	54.0	55.0					16																	1559872		2197	4299	6496	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1559872G>T	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2449G>T	16.37:g.1559872G>T	ENSP00000262319:p.Ala817Ser						p.A817S	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN			21	2740	+		Hepatocellular(780;0.219)	817					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.2449G>T	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227106	0.79576	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.48836	0.8	5.34	5.34	0.76211	.	0.049982	0.85682	D	0.000000	T	0.69106	0.3074	M	0.74258	2.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.69537	-0.5119	10	0.45353	T	0.12	-23.5674	17.2167	0.86946	0.0:0.0:1.0:0.0	.	817	Q9Y4R8	TELO2_HUMAN	S	340;817	ENSP00000262319:A817S	ENSP00000262319:A817S	A	+	1	0	TELO2	1499873	1.000000	0.71417	0.963000	0.40424	0.399000	0.30720	7.217000	0.77982	2.503000	0.84419	0.467000	0.42956	GCA		0.642	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2		NM_016111		9	28	1	0	1.08611e-07	0.010729	1.12231e-07	9	28		
CREBBP	1387	broad.mit.edu	37	16	3786760	3786760	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:3786760A>G	ENST00000262367.5	-	27	5260	c.4451T>C	c.(4450-4452)tTc>tCc	p.F1484S	CREBBP_ENST00000382070.3_Missense_Mutation_p.F1446S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1484	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGGCAATGGAAGATGTAATC	0.507			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4450-4452)TTC>TCC		CREB binding protein isoform a							230.0	196.0	207.0					16																	3786760		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3786760A>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4451T>C	16.37:g.3786760A>G	ENSP00000262367:p.Phe1484Ser					CREBBP_uc002cvw.2_Missense_Mutation_p.F1446S	p.F1484S	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	27	4655	-		Ovarian(90;0.0266)	1484			Cys/His-rich.|Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4451T>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	20.4	3.983700	0.74474	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.96992	-4.2;-4.2	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.98588	0.9528	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99734	1.1013	10	0.87932	D	0	-17.7256	14.6308	0.68655	1.0:0.0:0.0:0.0	.	1514;1484	Q4LE28;Q92793	.;CBP_HUMAN	S	1484;1514;1446;73	ENSP00000262367:F1484S;ENSP00000371502:F1446S	ENSP00000262367:F1484S	F	-	2	0	CREBBP	3726761	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.287000	0.95975	2.107000	0.64212	0.459000	0.35465	TTC		0.507	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		58	60	0	0	0	0.01441	0	58	60		
NOD2	64127	broad.mit.edu	37	16	50733855	50733855	+	Missense_Mutation	SNP	C	C	T	rs144368009		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:50733855C>T	ENST00000300589.2	+	2	635	c.530C>T	c.(529-531)cCg>cTg	p.P177L	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	177	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATCTTCACACCGTCCCAGAGG	0.542																																						uc002egm.1		NaN																	0				ovary(3)|skin(1)	4						c.(529-531)CCG>CTG		nucleotide-binding oligomerization domain		C	LEU/PRO	1,4395	2.1+/-5.4	0,1,2197	67.0	56.0	60.0		530	5.3	0.1	16	dbSNP_134	60	0,8600		0,0,4300	no	missense	NOD2	NM_022162.1	98	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	177/1041	50733855	1,12995	2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733855C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.530C>T	16.37:g.50733855C>T	ENSP00000300589:p.Pro177Leu					NOD2_uc010cbj.1_Missense_Mutation_p.P150L|NOD2_uc010cbk.1_Missense_Mutation_p.P150L|NOD2_uc002egl.1_5'UTR	p.P177L	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			2	635	+		all_cancers(37;0.0156)	177			CARD 2.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.530C>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762101	0.49468	2.27E-4	0.0	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.20463	2.07	5.29	5.29	0.74685	DEATH-like (2);Caspase Recruitment (2);	0.632714	0.14057	N	0.344312	T	0.15478	0.0373	L	0.27053	0.805	0.31190	N	0.701036	B	0.32829	0.386	B	0.22753	0.041	T	0.06770	-1.0808	10	0.46703	T	0.11	.	14.4314	0.67254	0.0:1.0:0.0:0.0	.	177	Q9HC29	NOD2_HUMAN	L	150;177	ENSP00000300589:P177L	ENSP00000300589:P177L	P	+	2	0	NOD2	49291356	0.717000	0.27966	0.111000	0.21465	0.299000	0.27559	4.021000	0.57196	2.471000	0.83476	0.591000	0.81541	CCG		0.542	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2		NM_022162		4	71	0	0	0	0.009096	0	4	71		
KATNB1	10300	broad.mit.edu	37	16	57787344	57787344	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:57787344G>A	ENST00000379661.3	+	12	1482	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CCCCAGCAGCGAGGATGACCG	0.662																																						uc002eml.1		NaN																	0					0						c.(1090-1092)GAG>AAG		katanin p80 subunit B 1							37.0	43.0	41.0					16																	57787344		2197	4299	6496	SO:0001583	missense	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57787344G>A	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1090G>A	16.37:g.57787344G>A	ENSP00000368982:p.Glu364Lys						p.E364K	NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN			12	1464	+		all_neural(199;0.223)	364			Interaction with PAFAH1B1 (By similarity).			Missense_Mutation	SNP	ENST00000379661.3	37	c.1090G>A	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363088	0.82353	.	.	ENSG00000140854	ENST00000379661	T	0.54866	0.55	5.19	5.19	0.71726	.	0.051448	0.85682	D	0.000000	T	0.46560	0.1399	L	0.47716	1.5	0.80722	D	1	P	0.50943	0.94	B	0.38264	0.269	T	0.51694	-0.8673	10	0.44086	T	0.13	1.633	17.7165	0.88338	0.0:0.0:1.0:0.0	.	364	Q9BVA0	KTNB1_HUMAN	K	364	ENSP00000368982:E364K	ENSP00000368982:E364K	E	+	1	0	KATNB1	56344845	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	9.869000	0.99810	2.419000	0.82065	0.591000	0.81541	GAG		0.662	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3				10	77	0	0	0	0.013537	0	10	77		
PLEKHG4	25894	broad.mit.edu	37	16	67314065	67314065	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:67314065C>T	ENST00000360461.5	+	1	2653	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.Q40*|PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.Q40*|PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.Q40*	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	40							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ACCTGCTTCCCAGATGCACGT	0.592																																						uc002eso.3		NaN																	0				skin(1)|pancreas(1)	2						c.(118-120)CAG>TAG		pleckstrin homology domain containing, family G							73.0	76.0	75.0					16																	67314065		2198	4300	6498	SO:0001587	stop_gained	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67314065C>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.118C>T	16.37:g.67314065C>T	ENSP00000353646:p.Gln40*					PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Nonsense_Mutation_p.Q40*|PLEKHG4_uc002esr.1_Nonsense_Mutation_p.Q40*|PLEKHG4_uc010cef.2_Nonsense_Mutation_p.Q40*|PLEKHG4_uc002ess.3_Nonsense_Mutation_p.Q40*|PLEKHG4_uc010ceg.2_Nonsense_Mutation_p.Q40*	p.Q40*	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	1	2653	+			40					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Nonsense_Mutation	SNP	ENST00000360461.5	37	c.118C>T	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866310	0.71949	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733;ENST00000393966	.	.	.	4.01	0.536	0.17138	.	0.893870	0.09096	N	0.849198	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	11.7771	0.51991	0.0:0.4815:0.5185:0.0	.	.	.	.	X	40	.	ENSP00000353646:Q40X	Q	+	1	0	PLEKHG4	65871566	0.000000	0.05858	0.001000	0.08648	0.700000	0.40528	-0.065000	0.11617	0.312000	0.23038	0.591000	0.81541	CAG		0.592	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2		NM_015432		55	50	0	0	0	0.01441	0	55	50		
THAP11	57215	broad.mit.edu	37	16	67877394	67877394	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:67877394G>T	ENST00000303596.1	+	1	1182	c.937G>T	c.(937-939)Gga>Tga	p.G313*	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CAAGAAGCACGGAATGTGAAC	0.612																																						uc002euo.2		NaN																	0					0						c.(937-939)GGA>TGA		THAP domain containing 11							35.0	36.0	36.0					16																	67877394		2198	4300	6498	SO:0001587	stop_gained	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67877394G>T	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.937G>T	16.37:g.67877394G>T	ENSP00000304689:p.Gly313*					CENPT_uc002eun.3_Intron	p.G313*	NM_020457	NP_065190	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	1182	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	313					A4UCT5|A8K002|O94795	Nonsense_Mutation	SNP	ENST00000303596.1	37	c.937G>T	CCDS10847.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652934	0.88056	.	.	ENSG00000168286	ENST00000303596	.	.	.	5.78	5.78	0.91487	.	0.092952	0.44483	D	0.000456	.	.	.	.	.	.	0.28564	N	0.910967	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.6024	17.7798	0.88520	0.0:0.0:1.0:0.0	.	.	.	.	X	313	.	ENSP00000304689:G313X	G	+	1	0	THAP11	66434895	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	6.887000	0.75616	2.725000	0.93324	0.609000	0.83330	GGA		0.612	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1		NM_020457		31	39	1	0	6.53348e-20	0.003755	7.01562e-20	31	39		
CIRH1A	84916	broad.mit.edu	37	16	69202805	69202805	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:69202805C>T	ENST00000314423.7	+	17	2203	c.2026C>T	c.(2026-2028)Cca>Tca	p.P676S	CIRH1A_ENST00000352319.4_Missense_Mutation_p.P561S			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	676					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TGCTCAGCTCCCACCACCCAT	0.443																																					Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.3		NaN																	0					0						c.(2026-2028)CCA>TCA		cirhin							128.0	120.0	123.0					16																	69202805		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69202805C>T	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.2026C>T	16.37:g.69202805C>T	ENSP00000327179:p.Pro676Ser					CIRH1A_uc002ewt.3_Missense_Mutation_p.P593S|CIRH1A_uc010cfi.2_Missense_Mutation_p.P478S	p.P676S	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	17	2122	+			676					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.2026C>T	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944958	0.92593	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.51325	1.33;0.71	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.70885	0.3275	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.73004	-0.4119	10	0.62326	D	0.03	.	18.485	0.90825	0.0:1.0:0.0:0.0	.	676	Q969X6	CIR1A_HUMAN	S	676;561	ENSP00000327179:P676S;ENSP00000339164:P561S	ENSP00000327179:P676S	P	+	1	0	CIRH1A	67760306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.463000	0.73530	2.660000	0.90430	0.563000	0.77884	CCA		0.443	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2		NM_032830		4	141	0	0	0	0.000602	0	4	141		
SNTB2	6645	broad.mit.edu	37	16	69279609	69279609	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:69279609G>A	ENST00000336278.4	+	2	723	c.685G>A	c.(685-687)Gag>Aag	p.E229K	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	229	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		TAGTGGCAGTGAGGACTCTGG	0.493																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)	uc002ewu.2		NaN																	0					0						c.(685-687)GAG>AAG		basic beta 2 syntrophin							235.0	218.0	224.0					16																	69279609		2198	4300	6498	SO:0001583	missense	6645					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding	g.chr16:69279609G>A	U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.685G>A	16.37:g.69279609G>A	ENSP00000338191:p.Glu229Lys						p.E229K	NM_006750	NP_006741	Q13425	SNTB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.208)	2	705	+		Ovarian(137;0.101)	229			PH 1.		Q9BY09	Missense_Mutation	SNP	ENST00000336278.4	37	c.685G>A	CCDS10873.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851028	0.91277	.	.	ENSG00000168807	ENST00000336278	T	0.54279	0.58	5.76	5.76	0.90799	Pleckstrin homology domain (1);	0.163210	0.53938	D	0.000055	T	0.43700	0.1259	L	0.29908	0.895	0.58432	D	0.999999	P	0.34546	0.456	B	0.36464	0.225	T	0.26467	-1.0102	10	0.09084	T	0.74	-4.1312	19.5525	0.95326	0.0:0.0:1.0:0.0	.	229	Q13425	SNTB2_HUMAN	K	229	ENSP00000338191:E229K	ENSP00000338191:E229K	E	+	1	0	SNTB2	67837110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.362000	0.97126	2.715000	0.92844	0.561000	0.74099	GAG		0.493	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268945.1				189	214	0	0	0	0.01441	0	189	214		
COG4	25839	broad.mit.edu	37	16	70531255	70531255	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:70531255C>T	ENST00000323786.5	-	11	1371	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	446					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TGCTGGATGTCAGCTGGCCCT	0.512																																						uc002ezc.2		NaN																	0					0						c.(1348-1350)CTG>CTA		component of oligomeric golgi complex 4							151.0	135.0	141.0					16																	70531255		2198	4300	6498	SO:0001819	synonymous_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70531255C>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1350G>A	16.37:g.70531255C>T						COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L450L|COG4_uc002eze.2_Silent_p.L144L	p.L450L	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			11	1361	-		Ovarian(137;0.0694)	446					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	ENST00000323786.5	37	c.1350G>A	CCDS10892.2																																																																																				0.512	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3				91	114	0	0	0	0.01441	0	91	114		
SF3B3	23450	broad.mit.edu	37	16	70602260	70602260	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:70602260C>A	ENST00000302516.5	+	22	3238	c.3027C>A	c.(3025-3027)ttC>ttA	p.F1009L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1009					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AAGAAAGTTTCATCTGGGTTC	0.433																																						uc002ezf.2		NaN																	0				ovary(1)	1						c.(3025-3027)TTC>TTA		splicing factor 3b, subunit 3							140.0	132.0	134.0					16																	70602260		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70602260C>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3027C>A	16.37:g.70602260C>A	ENSP00000305790:p.Phe1009Leu						p.F1009L	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			22	3238	+		Ovarian(137;0.0694)	1009					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.3027C>A	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948250	0.53186	.	.	ENSG00000189091	ENST00000302516	T	0.13307	2.6	5.81	3.88	0.44766	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.108122	0.64402	D	0.000003	T	0.13114	0.0318	L	0.42529	1.33	0.46701	D	0.999166	B	0.02656	0.0	B	0.04013	0.001	T	0.03784	-1.1004	10	0.39692	T	0.17	-3.4309	12.5429	0.56182	0.0:0.8652:0.0:0.1348	.	1009	Q15393	SF3B3_HUMAN	L	1009	ENSP00000305790:F1009L	ENSP00000305790:F1009L	F	+	3	2	SF3B3	69159761	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.522000	0.45572	0.804000	0.34136	-0.137000	0.14449	TTC		0.433	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1		NM_012426		40	51	1	0	1.96642e-18	0.006999	2.10519e-18	40	51		
RFWD3	55159	broad.mit.edu	37	16	74678291	74678291	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:74678291A>C	ENST00000361070.4	-	6	1145	c.1048T>G	c.(1048-1050)Ttg>Gtg	p.L350V	RFWD3_ENST00000571750.1_Missense_Mutation_p.L350V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	350					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTAGTGTCCAAAGCTCTCAGG	0.453																																						uc002fda.2		NaN																	0				lung(2)|breast(1)	3						c.(1048-1050)TTG>GTG		ring finger and WD repeat domain 3							237.0	214.0	222.0					16																	74678291		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74678291A>C	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1048T>G	16.37:g.74678291A>C	ENSP00000354361:p.Leu350Val					RFWD3_uc010cgq.2_Missense_Mutation_p.L350V	p.L350V	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			6	1146	-			350					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.1048T>G	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469707	0.63625	.	.	ENSG00000168411	ENST00000361070	T	0.18502	2.21	5.93	-0.755	0.11061	.	0.362330	0.25394	N	0.030988	T	0.19565	0.0470	M	0.64260	1.97	0.58432	D	0.999995	P	0.51057	0.941	P	0.49226	0.603	T	0.05632	-1.0873	10	0.31617	T	0.26	-11.2741	6.8093	0.23794	0.3629:0.1441:0.4929:0.0	.	350	Q6PCD5	RFWD3_HUMAN	V	350	ENSP00000354361:L350V	ENSP00000354361:L350V	L	-	1	2	RFWD3	73235792	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	1.338000	0.33873	-0.095000	0.12351	0.459000	0.35465	TTG		0.453	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2		NM_018124		36	227	0	0	0	0.01441	0	36	227		
CNTNAP4	85445	broad.mit.edu	37	16	76592577	76592577	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:76592577C>T	ENST00000476707.1	+	23	4072	c.3933C>T	c.(3931-3933)ttC>ttT	p.F1311F	CNTNAP4_ENST00000478060.1_Silent_p.F1235F|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000307431.8_Silent_p.F1307F|CNTNAP4_ENST00000377504.4_Silent_p.F1259F|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1308					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGTACTTCTTCTGATTGGCAG	0.363																																						uc002feu.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(3922-3924)TTC>TTT		cell recognition protein CASPR4 isoform 1							46.0	44.0	44.0					16																	76592577		1851	4102	5953	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76592577C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3933C>T	16.37:g.76592577C>T						CNTNAP4_uc002fev.1_Silent_p.F1172F|CNTNAP4_uc010chb.1_Silent_p.F1235F|CNTNAP4_uc002fex.1_Silent_p.F1311F	p.F1308F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			26	4309	+			1308			Cytoplasmic (Potential).		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.3924C>T																																																																																					0.363	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1		NM_033401		9	13	0	0	0	0.004482	0	9	13		
SLC38A8	146167	broad.mit.edu	37	16	84075602	84075602	+	Missense_Mutation	SNP	C	C	T	rs201971595		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:84075602C>T	ENST00000299709.3	-	1	160	c.161G>A	c.(160-162)gGa>gAa	p.G54E	RNA5SP432_ENST00000362480.1_RNA	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	54					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGGGACCACTCCGCCCGCTTT	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16102	0.0		0.0	False		,,,				2504	0.0					uc002fhg.1		NaN																	0					0						c.(160-162)GGA>GAA		solute carrier family 38, member 8							79.0	88.0	85.0					16																	84075602		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84075602C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.161G>A	16.37:g.84075602C>T	ENSP00000299709:p.Gly54Glu						p.G54E	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			1	161	-			54						Missense_Mutation	SNP	ENST00000299709.3	37	c.161G>A	CCDS32495.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.21	3.058296	0.55325	.	.	ENSG00000166558	ENST00000299709	T	0.02216	4.39	4.91	4.91	0.64330	.	0.118857	0.56097	D	0.000024	T	0.15696	0.0378	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00880	-1.1529	10	0.72032	D	0.01	.	18.0945	0.89485	0.0:1.0:0.0:0.0	.	54	A6NNN8	S38A8_HUMAN	E	54	ENSP00000299709:G54E	ENSP00000299709:G54E	G	-	2	0	SLC38A8	82633103	1.000000	0.71417	0.056000	0.19401	0.007000	0.05969	7.256000	0.78350	2.265000	0.75225	0.650000	0.86243	GGA		0.637	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1		NM_001080442		18	174	0	0	0	0.00333	0	18	174		
DNAAF1	123872	broad.mit.edu	37	16	84211366	84211366	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:84211366G>C	ENST00000378553.5	+	12	2221	c.2097G>C	c.(2095-2097)gaG>gaC	p.E699D	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	699					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|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)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CACCCCCAGAGACGTGTGTCG	0.592																																						uc002fhl.3		NaN																	0					0						c.(2095-2097)GAG>GAC		leucine rich repeat containing 50							106.0	102.0	104.0					16																	84211366		2200	4300	6500	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84211366G>C	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.2097G>C	16.37:g.84211366G>C	ENSP00000367815:p.Glu699Asp					LRRC50_uc010vnw.1_Missense_Mutation_p.E463D	p.E699D	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			12	2278	+			699					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.2097G>C	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	8.610	0.888899	0.17540	.	.	ENSG00000154099	ENST00000378553	T	0.32272	1.46	2.9	-2.18	0.07037	.	2.095170	0.03388	U	0.201349	T	0.20618	0.0496	N	0.22421	0.69	0.09310	N	1	B;B	0.16603	0.018;0.002	B;B	0.15052	0.012;0.003	T	0.22417	-1.0217	10	0.33940	T	0.23	10.6973	7.3423	0.26644	0.0:0.5342:0.2849:0.1809	.	463;699	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	D	699	ENSP00000367815:E699D	ENSP00000367815:E699D	E	+	3	2	DNAAF1	82768867	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.597000	0.05713	-0.393000	0.07739	0.609000	0.83330	GAG		0.592	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3		NM_178452		57	257	0	0	0	0.01441	0	57	257		
RNMTL1	55178	broad.mit.edu	37	17	691281	691281	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:691281G>C	ENST00000304478.4	+	3	742	c.636G>C	c.(634-636)ttG>ttC	p.L212F	RP11-676J12.8_ENST00000574560.1_RNA	NM_018146.2	NP_060616.1			RNA methyltransferase like 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CTTTATTATTGATTTGTGACA	0.463																																						uc002frw.2		NaN																	0				ovary(1)	1						c.(634-636)TTG>TTC		RNA methyltransferase like 1							176.0	171.0	172.0					17																	691281		2203	4300	6503	SO:0001583	missense	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:691281G>C	AF177344	CCDS10997.1	17p13.3	2008-02-05			ENSG00000171861	ENSG00000171861			18485	protein-coding gene	gene with protein product		612600				12296377	Standard	NM_018146		Approved	FLJ10581, HC90	uc002frw.3	Q9HC36	OTTHUMG00000090285	ENST00000304478.4:c.636G>C	17.37:g.691281G>C	ENSP00000306080:p.Leu212Phe						p.L212F	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	3	742	+			212						Missense_Mutation	SNP	ENST00000304478.4	37	c.636G>C	CCDS10997.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589511	0.66105	.	.	ENSG00000171861	ENST00000304478	T	0.50813	0.73	5.86	4.84	0.62591	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	M	0.92219	3.285	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.76626	-0.2890	10	0.72032	D	0.01	-16.1422	8.6799	0.34203	0.0:0.1503:0.5922:0.2575	.	212	Q9HC36	RMTL1_HUMAN	F	212	ENSP00000306080:L212F	ENSP00000306080:L212F	L	+	3	2	RNMTL1	638031	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.348000	0.44045	2.777000	0.95525	0.591000	0.81541	TTG		0.463	RNMTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206611.1		NM_018146		62	140	0	0	0	0.01441	0	62	140		
SLC25A11	8402	broad.mit.edu	37	17	4841188	4841188	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:4841188C>T	ENST00000225665.7	-	8	1133	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|SLC25A11_ENST00000544061.2_Missense_Mutation_p.V214M|RNF167_ENST00000571816.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	265					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TTGAACAGCACGTCCTAGACA	0.627																																					Esophageal Squamous(144;1178 2388 18010 48797)	uc002fzo.1		NaN																	0					0						c.(793-795)GTG>ATG		solute carrier family 25 member 11 isoform 1							71.0	80.0	77.0					17																	4841188		2203	4300	6503	SO:0001583	missense	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841188C>T	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.793G>A	17.37:g.4841188C>T	ENSP00000225665:p.Val265Met					SLC25A11_uc002fzp.1_Missense_Mutation_p.V261M|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank	p.V265M	NM_003562	NP_003553	Q02978	M2OM_HUMAN			8	906	-			265			Solcar 3.		F5GY65|O75537|Q969P7	Missense_Mutation	SNP	ENST00000225665.7	37	c.793G>A	CCDS11059.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274316	0.40194	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	T;T	0.80566	-1.39;-1.39	5.16	5.16	0.70880	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	M	0.83118	2.625	0.80722	D	1	P;P	0.42518	0.782;0.782	B;B	0.43658	0.426;0.426	D	0.86678	0.1915	10	0.59425	D	0.04	-6.4109	16.1894	0.81975	0.0:1.0:0.0:0.0	.	265;265	Q6IBH0;Q02978	.;M2OM_HUMAN	M	265;214	ENSP00000225665:V265M;ENSP00000440804:V214M	ENSP00000225665:V265M	V	-	1	0	SLC25A11	4781933	1.000000	0.71417	0.995000	0.50966	0.330000	0.28571	6.955000	0.76007	2.679000	0.91253	0.655000	0.94253	GTG		0.627	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4		NM_003562		28	69	0	0	0	0.010818	0	28	69		
DHX33	56919	broad.mit.edu	37	17	5352201	5352201	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:5352201C>A	ENST00000225296.3	-	11	1943	c.1743G>T	c.(1741-1743)gaG>gaT	p.E581D	DHX33_ENST00000433302.3_Missense_Mutation_p.E357D	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	581					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.E581D(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGACAAAATTCTCTTTGCACC	0.458																																						uc002gca.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|pancreas(1)	2						c.(1741-1743)GAG>GAT		DEAH (Asp-Glu-Ala-His) box polypeptide 33							132.0	109.0	117.0					17																	5352201		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5352201C>A	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1743G>T	17.37:g.5352201C>A	ENSP00000225296:p.Glu581Asp					DHX33_uc002gbz.2_Missense_Mutation_p.E352D|DHX33_uc002gcb.2_Missense_Mutation_p.E408D|DHX33_uc010clf.2_Missense_Mutation_p.E357D	p.E581D	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN			11	1745	-			581					B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.1743G>T	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225838	0.39300	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.02579	4.24;4.24	5.18	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.03178	0.0093	L	0.45698	1.435	0.58432	D	0.999999	B;B	0.31193	0.312;0.004	B;B	0.26693	0.072;0.005	T	0.52571	-0.8558	10	0.33940	T	0.23	.	9.2742	0.37690	0.0:0.8381:0.0:0.1619	.	357;581	Q05BE5;Q9H6R0	.;DHX33_HUMAN	D	581;357	ENSP00000225296:E581D;ENSP00000413779:E357D	ENSP00000225296:E581D	E	-	3	2	DHX33	5292925	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.715000	0.37971	1.430000	0.47334	0.563000	0.77884	GAG		0.458	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2		NM_020162		15	28	1	0	8.28177e-16	0.007413	8.81329e-16	15	28		
XAF1	54739	broad.mit.edu	37	17	6659401	6659401	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:6659401G>A	ENST00000361842.3	+	1	243	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	XAF1_ENST00000441631.1_Missense_Mutation_p.E2K|XAF1_ENST00000576459.1_3'UTR|XAF1_ENST00000346752.4_Missense_Mutation_p.E2K|XAF1_ENST00000438512.1_Missense_Mutation_p.E2K	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	2					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GCAGAACATGGAAGGAGACTT	0.537																																						uc002gdn.2		NaN																	0					0						c.(4-6)GAA>AAA		XIAP associated factor 1 isoform 1							108.0	107.0	108.0					17																	6659401		2203	4300	6503	SO:0001583	missense	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6659401G>A	X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.4G>A	17.37:g.6659401G>A	ENSP00000354822:p.Glu2Lys					XAF1_uc010clr.1_Missense_Mutation_p.E2K|XAF1_uc002gdm.1_5'UTR|XAF1_uc002gdo.2_Missense_Mutation_p.E2K|XAF1_uc002gdp.2_5'UTR|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_5'UTR	p.E2K	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN			1	246	+			2					A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Missense_Mutation	SNP	ENST00000361842.3	37	c.4G>A	CCDS11080.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295947	0.81025	.	.	ENSG00000132530	ENST00000361842;ENST00000441631;ENST00000346752;ENST00000438512	T;T;T;T	0.32023	3.9;3.9;1.47;3.9	4.3	4.3	0.51218	.	0.243414	0.29444	N	0.012131	T	0.54224	0.1845	M	0.73962	2.25	0.38956	D	0.958443	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.991	T	0.61657	-0.7018	10	0.87932	D	0	-8.5772	12.9699	0.58508	0.0:0.0:1.0:0.0	.	2;2;2	C9J7Z8;Q6GPH4-2;Q6GPH4	.;.;XAF1_HUMAN	K	2	ENSP00000354822:E2K;ENSP00000413199:E2K;ENSP00000341029:E2K;ENSP00000406233:E2K	ENSP00000341029:E2K	E	+	1	0	XAF1	6600125	1.000000	0.71417	0.959000	0.39883	0.015000	0.08874	3.990000	0.56965	2.329000	0.79093	0.655000	0.94253	GAA		0.537	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5		NM_017523		86	43	0	0	0	0.01441	0	86	43		
TP53	7157	broad.mit.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:7577108C>A	ENST00000269305.4	-	8	1019	c.830G>T	c.(829-831)tGt>tTt	p.C277F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C277F|TP53_ENST00000359597.4_Missense_Mutation_p.C277F|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C277F|TP53_ENST00000420246.2_Missense_Mutation_p.C277F	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	277	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCCCAGGACAGGCACAAAC	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		61	Substitution - Missense(40)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(4)|Unknown(2)	p.C277F(20)|p.C277Y(15)|p.0?(7)|p.C277*(6)|p.C277G(4)|p.C277C(4)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.L265_K305del41(1)|p.C275_R283delCACPGRDRR(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275fs*20(1)	lung(11)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|bone(6)|upper_aerodigestive_tract(5)|oesophagus(5)|stomach(4)|urinary_tract(4)|central_nervous_system(3)|skin(2)|cervix(1)|peritoneum(1)|large_intestine(1)|ovary(1)|prostate(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(829-831)TGT>TTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							72.0	62.0	66.0					17																	7577108		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.chr17:7577108C>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.830G>T	17.37:g.7577108C>A	ENSP00000269305:p.Cys277Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C277F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C145F|TP53_uc010cng.1_Missense_Mutation_p.C145F|TP53_uc002gii.1_Missense_Mutation_p.C145F|TP53_uc010cnh.1_Missense_Mutation_p.C277F|TP53_uc010cni.1_Missense_Mutation_p.C277F|TP53_uc002gij.2_Missense_Mutation_p.C277F	p.C277F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1024	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	277		C -> W (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.830G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209345	0.79240	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.044315	0.85682	D	0.000000	D	0.99880	0.9943	M	0.91872	3.25	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.85130	0.982;0.997;0.99;0.986	D	0.96422	0.9312	10	0.87932	D	0	-10.0792	16.1198	0.81342	0.0:1.0:0.0:0.0	.	277;277;277;277	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	277;277;277;277;277;266;145	ENSP00000352610:C277F;ENSP00000269305:C277F;ENSP00000398846:C277F;ENSP00000391127:C277F;ENSP00000391478:C277F;ENSP00000425104:C145F	ENSP00000269305:C277F	C	-	2	0	TP53	7517833	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.781000	0.68964	2.667000	0.90743	0.462000	0.41574	TGT		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		21	23	1	0	4.96729e-08	0.008871	5.14779e-08	21	23		
ALOXE3	59344	broad.mit.edu	37	17	8018935	8018935	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:8018935C>G	ENST00000448843.2	-	4	764	c.424G>C	c.(424-426)Gaa>Caa	p.E142Q	ALOXE3_ENST00000318227.3_Missense_Mutation_p.E274Q|ALOXE3_ENST00000380149.1_Missense_Mutation_p.E298Q	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	142	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CGGTAGCATTCTTGTCGGGCC	0.478																																						uc010cnr.2		NaN																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(424-426)GAA>CAA		arachidonate lipoxygenase 3 isoform 2							108.0	100.0	102.0					17																	8018935		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8018935C>G	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.424G>C	17.37:g.8018935C>G	ENSP00000400581:p.Glu142Gln					ALOXE3_uc002gka.2_Missense_Mutation_p.E298Q|ALOXE3_uc010vuo.1_Missense_Mutation_p.E274Q|ALOXE3_uc010vup.1_RNA	p.E142Q	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN			4	794	-			142			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.424G>C	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070904	0.36566	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.89746	-2.56;-2.56;-2.56	5.44	4.45	0.53987	Lipoxygenase, C-terminal (2);	0.689772	0.16075	N	0.230807	T	0.81578	0.4852	N	0.25332	0.735	0.34507	D	0.70663	B;B;B	0.17268	0.021;0.006;0.006	B;B;B	0.14023	0.008;0.01;0.01	T	0.78996	-0.1983	10	0.23891	T	0.37	-3.4397	12.1162	0.53866	0.0:0.8272:0.1728:0.0	.	274;142;142	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	Q	298;274;142	ENSP00000369494:E298Q;ENSP00000314879:E274Q;ENSP00000400581:E142Q	ENSP00000314879:E274Q	E	-	1	0	ALOXE3	7959660	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.993000	0.49425	1.253000	0.44018	0.462000	0.41574	GAA		0.478	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1				31	58	0	0	0	0.004878	0	31	58		
STX8	9482	broad.mit.edu	37	17	9153949	9153949	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:9153949C>T	ENST00000306357.4	-	8	1084	c.657G>A	c.(655-657)gtG>gtA	p.V219V	STX8_ENST00000574431.1_Silent_p.V108V	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	219					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						GCAGTAAAATCACCATGATCA	0.463																																						uc002glx.2		NaN																	0				central_nervous_system(1)	1						c.(655-657)GTG>GTA		syntaxin 8							128.0	114.0	119.0					17																	9153949		2202	4299	6501	SO:0001819	synonymous_variant	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9153949C>T	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.657G>A	17.37:g.9153949C>T							p.V219V	NM_004853	NP_004844	Q9UNK0	STX8_HUMAN			8	807	-			219			Helical; Anchor for type IV membrane protein; (Potential).		O60712|Q53XT8	Silent	SNP	ENST00000306357.4	37	c.657G>A	CCDS32565.1																																																																																				0.463	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3		NM_004853		7	14	0	0	0	0.006214	0	7	14		
ELAC2	60528	broad.mit.edu	37	17	12897026	12897026	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:12897026C>T	ENST00000338034.4	-	23	2470	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	ELAC2_ENST00000395962.2_Missense_Mutation_p.G725E|ELAC2_ENST00000426905.3_Missense_Mutation_p.G704E	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	744					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AAAGGCAACTCCCACTTTCTC	0.577																																						uc002gnz.3		NaN																	0					0						c.(2230-2232)GGA>GAA		elaC homolog 2 isoform 1							164.0	119.0	134.0					17																	12897026		2203	4300	6503	SO:0001583	missense	60528	Hereditary_Prostate_Cancer			tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12897026C>T	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.2231G>A	17.37:g.12897026C>T	ENSP00000337445:p.Gly744Glu					ELAC2_uc002gnu.3_Missense_Mutation_p.G141E|ELAC2_uc002gnv.3_Missense_Mutation_p.G372E|ELAC2_uc002gnw.3_Missense_Mutation_p.G400E|ELAC2_uc002gnx.3_Missense_Mutation_p.G504E|ELAC2_uc010vvo.1_Missense_Mutation_p.G542E|ELAC2_uc010vvp.1_Missense_Mutation_p.G725E|ELAC2_uc010vvq.1_Missense_Mutation_p.G743E|ELAC2_uc010vvr.1_Missense_Mutation_p.G704E	p.G744E	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN			23	2326	-			744					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.2231G>A	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547200	0.45383	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962	T;T;T	0.52754	0.65;0.65;0.65	5.09	5.09	0.68999	.	0.048905	0.85682	D	0.000000	T	0.72455	0.3462	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.983;1.0;1.0;0.999;0.991	D;D;D;D;D;D;D;D	0.97110	0.999;0.979;0.998;0.947;1.0;0.988;0.986;0.965	T	0.75584	-0.3267	10	0.49607	T	0.09	-15.0756	16.023	0.80512	0.0:1.0:0.0:0.0	.	704;727;725;542;744;504;729;372	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	E	704;744;725	ENSP00000405223:G704E;ENSP00000337445:G744E;ENSP00000379291:G725E	ENSP00000337445:G744E	G	-	2	0	ELAC2	12837751	1.000000	0.71417	0.841000	0.33234	0.760000	0.43138	7.203000	0.77864	2.653000	0.90120	0.655000	0.94253	GGA		0.577	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5				15	113	0	0	0	0.00499	0	15	113		
TRIM16	10626	broad.mit.edu	37	17	15532492	15532492	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:15532492C>T	ENST00000578237.1	-	11	1987	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	TRIM16_ENST00000336708.7_Missense_Mutation_p.D378N|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.D378N|TRIM16_ENST00000579219.1_Silent_p.L74L|TRIM16_ENST00000577886.1_Missense_Mutation_p.D162N|TRIM16_ENST00000416464.2_Missense_Mutation_p.D248N			O95361	TRI16_HUMAN	tripartite motif containing 16	378	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GTGTCCGGGTCAAACGTGATG	0.567																																						uc002gox.2		NaN																	0				ovary(2)|skin(1)	3						c.(1132-1134)GAC>AAC		tripartite motif-containing 16							76.0	69.0	72.0					17																	15532492		2203	4300	6503	SO:0001583	missense	10626				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding	g.chr17:15532492C>T	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1132G>A	17.37:g.15532492C>T	ENSP00000463188:p.Asp378Asn					TRIM16_uc002gor.1_Missense_Mutation_p.D378N|TRIM16_uc002gow.2_Missense_Mutation_p.D162N|TRIM16_uc002goy.2_Missense_Mutation_p.D248N	p.D378N	NM_006470	NP_006461	O95361	TRI16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	9	1689	-			378			B30.2/SPRY.		Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.1132G>A	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.280438	0.80692	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.61274	0.12;0.12	4.83	4.83	0.62350	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.053784	0.64402	D	0.000001	T	0.80660	0.4665	M	0.90870	3.155	0.48511	D	0.999667	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85137	0.0978	10	0.62326	D	0.03	.	15.448	0.75248	0.0:1.0:0.0:0.0	.	248;378;392	B3KP96;O95361;Q59EB2	.;TRI16_HUMAN;.	N	378;248	ENSP00000338989:D378N;ENSP00000399918:D248N	ENSP00000338989:D378N	D	-	1	0	TRIM16	15473217	0.998000	0.40836	0.898000	0.35279	0.481000	0.33189	4.077000	0.57598	2.232000	0.73038	0.650000	0.86243	GAC		0.567	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2		NM_006470		43	75	0	0	0	0.01441	0	43	75		
NCOR1	9611	broad.mit.edu	37	17	15942889	15942889	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:15942889G>A	ENST00000268712.3	-	44	7070	c.6813C>T	c.(6811-6813)ctC>ctT	p.L2271L	NCOR1_ENST00000395851.1_Silent_p.L2168L|NCOR1_ENST00000395857.3_Silent_p.L855L|AC002553.1_ENST00000442828.1_5'Flank	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2271	ID2. {ECO:0000250}.|Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGCTTCCCATGAGAGCCTTCC	0.473																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(6811-6813)CTC>CTT		nuclear receptor co-repressor 1							108.0	86.0	93.0					17																	15942889		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15942889G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6813C>T	17.37:g.15942889G>A						NCOR1_uc002gpn.2_Silent_p.L2168L|NCOR1_uc002gpl.2_Silent_p.L286L|NCOR1_uc002gpm.2_Silent_p.L791L|NCOR1_uc010vwb.1_Silent_p.L855L|NCOR1_uc010coy.2_Silent_p.L1179L	p.L2271L	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	44	7053	-			2271			Interaction with C1D (By similarity).|ID2 (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.6813C>T	CCDS11175.1																																																																																				0.473	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		11	31	0	0	0	0.013537	0	11	31		
RAI1	10743	broad.mit.edu	37	17	17696270	17696270	+	Missense_Mutation	SNP	C	C	G	rs200860391		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:17696270C>G	ENST00000353383.1	+	3	477	c.8C>G	c.(7-9)tCt>tGt	p.S3C	RAI1_ENST00000261641.6_Missense_Mutation_p.S3C	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	3					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTCATGCAGTCTTTTCGAGAA	0.552																																						uc002grm.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(7-9)TCT>TGT		retinoic acid induced 1							40.0	42.0	42.0					17																	17696270		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696270C>G	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.8C>G	17.37:g.17696270C>G	ENSP00000323074:p.Ser3Cys					RAI1_uc002grn.1_Missense_Mutation_p.S3C	p.S3C	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	477	+			3					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.8C>G	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617159	0.66672	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	D;T;T	0.82803	-1.65;1.24;-1.04	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000004	D	0.90143	0.6920	M	0.70275	2.135	0.52501	D	0.999956	D	0.89917	1.0	D	0.73380	0.98	D	0.91709	0.5380	10	0.87932	D	0	.	16.6905	0.85320	0.0:1.0:0.0:0.0	.	3	Q7Z5J4	RAI1_HUMAN	C	3	ENSP00000323074:S3C;ENSP00000379120:S3C;ENSP00000261641:S3C	ENSP00000261641:S3C	S	+	2	0	RAI1	17636995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.260000	0.78391	2.016000	0.59253	0.462000	0.41574	TCT		0.552	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		21	33	0	0	0	0.012319	0	21	33		
MIEF2	125170	broad.mit.edu	37	17	18167285	18167285	+	Missense_Mutation	SNP	C	C	T	rs368849748		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:18167285C>T	ENST00000323019.4	+	4	783	c.572C>T	c.(571-573)gCg>gTg	p.A191V	MIEF2_ENST00000395704.4_Silent_p.C166C|MIEF2_ENST00000577216.1_3'UTR|MIEF2_ENST00000395706.2_Missense_Mutation_p.A202V	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	191					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											GCGGGGGCTGCGGACCATGTG	0.701																																						uc002gst.2		NaN																	0					0						c.(571-573)GCG>GTG		Smith-Magenis syndrome chromosome region,			VAL/ALA,VAL/ALA,	1,4345		0,1,2172	9.0	10.0	10.0		572,605,498	5.3	0.0	17		10	0,8538		0,0,4269	no	missense,missense,coding-synonymous	SMCR7	NM_139162.3,NM_148886.1,NM_001144900.1	64,64,	0,1,6441	TT,TC,CC		0.0,0.023,0.0078	probably-damaging,probably-damaging,	191/455,202/466,166/206	18167285	1,12883	2173	4269	6442	SO:0001583	missense	125170					integral to membrane	protein binding	g.chr17:18167285C>T	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.572C>T	17.37:g.18167285C>T	ENSP00000323591:p.Ala191Val					SMCR7_uc002gsu.2_Silent_p.C166C|SMCR7_uc010vxq.1_Missense_Mutation_p.A202V	p.A191V	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN			4	783	+	all_neural(463;0.228)		191					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.572C>T	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	c	15.21	2.765560	0.49574	2.3E-4	0.0	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.18016	2.26;2.24	5.31	5.31	0.75309	.	0.158819	0.56097	D	0.000030	T	0.33585	0.0868	.	.	.	0.48341	D	0.999636	D	0.69078	0.997	P	0.52267	0.694	T	0.08066	-1.0740	9	0.62326	D	0.03	-7.768	18.9842	0.92764	0.0:1.0:0.0:0.0	.	191	Q96C03	MID49_HUMAN	V	191;202	ENSP00000323591:A191V;ENSP00000379057:A202V	ENSP00000323591:A191V	A	+	2	0	SMCR7	18108010	1.000000	0.71417	0.011000	0.14972	0.011000	0.07611	5.958000	0.70330	2.480000	0.83734	0.558000	0.71614	GCG		0.701	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2		NM_139162		8	17	0	0	0	0.006214	0	8	17		
ZNF286B	729288	broad.mit.edu	37	17	18565289	18565289	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:18565289G>A	ENST00000545289.1	-	5	1780	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	510					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)			endometrium(1)|lung(1)	2						GATGTCTGATGAGAGATGAAC	0.358																																						uc010vyd.1		NaN																	0					0						c.(1528-1530)CTC>CTT		zinc finger protein 286B							32.0	33.0	33.0					17																	18565289		692	1578	2270	SO:0001819	synonymous_variant	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18565289G>A		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1530C>T	17.37:g.18565289G>A							p.L510L	NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN			5	1781	-			510			C2H2-type 10.			Silent	SNP	ENST00000545289.1	37	c.1530C>T	CCDS58523.1																																																																																				0.358	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			XM_001723047		16	46	0	0	0	0.00333	0	16	46		
ALDH3A1	218	broad.mit.edu	37	17	19648427	19648427	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:19648427C>T	ENST00000457500.2	-	1	345	c.16G>A	c.(16-18)Gag>Aag	p.E6K	ALDH3A1_ENST00000225740.6_Missense_Mutation_p.E6K|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.E6K|ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.E6K|ALDH3A1_ENST00000494157.2_Intron	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	6					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TTCACGGCCTCGCTGATCTTG	0.682																																						uc010cqu.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(16-18)GAG>AAG		aldehyde dehydrogenase 3A1	NADH(DB00157)						14.0	18.0	17.0					17																	19648427		2139	4181	6320	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	g.chr17:19648427C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.16G>A	17.37:g.19648427C>T	ENSP00000411821:p.Glu6Lys					ALDH3A1_uc010vzd.1_Missense_Mutation_p.E6K|ALDH3A1_uc002gwj.2_Missense_Mutation_p.E6K|ALDH3A1_uc010cqv.2_Missense_Mutation_p.E6K|ALDH3A1_uc002gwk.2_Intron|ALDH3A1_uc002gwl.1_5'Flank	p.E6K	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	1	346	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		6					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.16G>A	CCDS11212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.19|11.19	1.566341|1.566341	0.27915|0.27915	.|.	.|.	ENSG00000108602|ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000444455;ENST00000457500;ENST00000439102;ENST00000426645|ENST00000379258	T;T;T;T;T;T|.	0.75589|.	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95|.	4.41|4.41	3.41|3.41	0.39046|0.39046	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);|.	.|.	.|.	.|.	.|.	T|T	0.18923|0.18923	0.0454|0.0454	N|N	0.04297|0.04297	-0.235|-0.235	0.33550|0.33550	D|D	0.596004|0.596004	B;B|.	0.17465|.	0.022;0.022|.	B;B|.	0.11329|.	0.006;0.006|.	T|T	0.26052|0.26052	-1.0114|-1.0114	9|6	0.22706|0.12103	T|T	0.39|0.63	.|.	8.1255|8.1255	0.30997|0.30997	0.0:0.6311:0.2812:0.0876|0.0:0.6311:0.2812:0.0876	.|.	6;6|.	A8K828;P30838|.	.;AL3A1_HUMAN|.	K|Q	6|65	ENSP00000225740:E6K;ENSP00000378923:E6K;ENSP00000388469:E6K;ENSP00000411821:E6K;ENSP00000389766:E6K;ENSP00000388369:E6K|.	ENSP00000225740:E6K|ENSP00000368560:R65Q	E|R	-|-	1|2	0|0	ALDH3A1|ALDH3A1	19589019|19589019	0.691000|0.691000	0.27709|0.27709	0.947000|0.947000	0.38551|0.38551	0.551000|0.551000	0.35334|0.35334	2.707000|2.707000	0.47143|0.47143	0.820000|0.820000	0.34516|0.34516	0.461000|0.461000	0.40582|0.40582	GAG|CGA		0.682	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4		NM_000691		18	38	0	0	0	0.00278	0	18	38		
AKAP10	11216	broad.mit.edu	37	17	19861683	19861683	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:19861683A>T	ENST00000225737.6	-	4	678	c.521T>A	c.(520-522)cTa>cAa	p.L174Q	AKAP10_ENST00000395536.3_Missense_Mutation_p.L174Q|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	174	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CACTGTGTTTAGACTGTGTGC	0.413																																						uc002gwo.2		NaN																	0				skin(1)	1						c.(520-522)CTA>CAA		A-kinase anchor protein 10 precursor							74.0	73.0	73.0					17																	19861683		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19861683A>T	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.521T>A	17.37:g.19861683A>T	ENSP00000225737:p.Leu174Gln					AKAP10_uc002gwp.1_Missense_Mutation_p.L174Q|AKAP10_uc010cqw.1_Missense_Mutation_p.L174Q|AKAP10_uc010vze.1_Missense_Mutation_p.L95Q	p.L174Q	NM_007202	NP_009133	O43572	AKA10_HUMAN			4	658	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		174			RGS 1.		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.521T>A	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656401	0.88056	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.19105	2.17	6.08	6.08	0.98989	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	M	0.64997	1.995	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.971;0.99	T	0.38351	-0.9665	10	0.87932	D	0	-6.2882	15.8323	0.78764	1.0:0.0:0.0:0.0	.	174;174;174	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	Q	174	ENSP00000225737:L174Q	ENSP00000225737:L174Q	L	-	2	0	AKAP10	19802275	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.772000	0.91757	2.333000	0.79357	0.482000	0.46254	CTA		0.413	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2		NM_007202		26	57	0	0	0	0.003954	0	26	57		
MAP2K3	5606	broad.mit.edu	37	17	21205466	21205466	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:21205466G>T	ENST00000342679.4	+	6	660	c.411G>T	c.(409-411)tgG>tgT	p.W137C	MAP2K3_ENST00000316920.6_Missense_Mutation_p.W108C|MAP2K3_ENST00000361818.5_Missense_Mutation_p.W108C	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	137	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GAGACGTGTGGATCTGCATGG	0.597																																						uc002gys.2		NaN																	0					0						c.(409-411)TGG>TGT		mitogen-activated protein kinase kinase 3							116.0	92.0	101.0					17																	21205466		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21205466G>T	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.411G>T	17.37:g.21205466G>T	ENSP00000345083:p.Trp137Cys					MAP2K3_uc002gyt.2_Missense_Mutation_p.W108C|MAP2K3_uc002gyu.2_Missense_Mutation_p.W108C	p.W137C	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	6	676	+			137			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.411G>T	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968907	0.34754	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	T;T;T	0.64438	1.13;1.13;-0.1	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.64000	0.2559	N	0.05199	-0.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74630	-0.3601	10	0.87932	D	0	-23.7762	18.7039	0.91630	0.0:0.0:1.0:0.0	.	137	P46734	MP2K3_HUMAN	C	137;108;108;108;141	ENSP00000345083:W137C;ENSP00000355081:W108C;ENSP00000434068:W108C	ENSP00000319139:W141C	W	+	3	0	MAP2K3	21146059	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	9.752000	0.98900	2.396000	0.81511	0.655000	0.94253	TGG		0.597	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2		NM_145109		15	77	1	0	1.96292e-10	0.010504	2.05215e-10	15	77		
FOXN1	8456	broad.mit.edu	37	17	26862193	26862193	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:26862193C>T	ENST00000226247.2	+	7	1633	c.1604C>T	c.(1603-1605)tCa>tTa	p.S535L	FOXN1_ENST00000579795.1_Missense_Mutation_p.S535L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	535					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ATCAATCCCTCACTCACTGAC	0.597																																						uc010crm.2		NaN																	0				skin(1)	1						c.(1603-1605)TCA>TTA		forkhead box N1							59.0	39.0	46.0					17																	26862193		2202	4300	6502	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26862193C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1604C>T	17.37:g.26862193C>T	ENSP00000226247:p.Ser535Leu					FOXN1_uc002hbj.2_Missense_Mutation_p.S535L	p.S535L	NM_003593	NP_003584	O15353	FOXN1_HUMAN			8	1802	+	Lung NSC(42;0.00431)		535					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1604C>T	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172695	0.78452	.	.	ENSG00000109101	ENST00000226247	D	0.96168	-3.93	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000005	D	0.97473	0.9173	M	0.75615	2.305	0.51767	D	0.999939	D	0.76494	0.999	D	0.80764	0.994	D	0.98208	1.0471	10	0.87932	D	0	.	17.989	0.89163	0.0:1.0:0.0:0.0	.	535	O15353	FOXN1_HUMAN	L	535	ENSP00000226247:S535L	ENSP00000226247:S535L	S	+	2	0	FOXN1	23886320	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.633000	0.67825	2.490000	0.84030	0.655000	0.94253	TCA		0.597	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1				16	37	0	0	0	0.008871	0	16	37		
SUPT6H	6830	broad.mit.edu	37	17	27010765	27010765	+	Silent	SNP	C	C	T	rs537916946		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:27010765C>T	ENST00000314616.6	+	17	2443	c.2160C>T	c.(2158-2160)ttC>ttT	p.F720F	SUPT6H_ENST00000347486.4_Silent_p.F720F	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	720	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TACAGCAGTTCCTCTATGTGC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18155	0.001		0.0	False		,,,				2504	0.0					uc002hby.2		NaN																	0				ovary(2)|skin(1)	3						c.(2158-2160)TTC>TTT		suppressor of Ty 6 homolog							64.0	64.0	64.0					17																	27010765		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27010765C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2160C>T	17.37:g.27010765C>T						SUPT6H_uc010crt.2_Silent_p.F720F	p.F720F	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			17	2250	+	Lung NSC(42;0.00431)		720					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.2160C>T	CCDS32596.1																																																																																				0.473	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2		NM_003170		19	38	0	0	0	0.007413	0	19	38		
TLCD1	116238	broad.mit.edu	37	17	27051729	27051729	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:27051729G>C	ENST00000292090.3	-	4	653	c.543C>G	c.(541-543)ctC>ctG	p.L181L	SNORD42A_ENST00000459584.1_RNA|SNORD4B_ENST00000459083.1_RNA|AC010761.14_ENST00000587898.1_RNA|TLCD1_ENST00000394933.3_Silent_p.L134L|SNORD4A_ENST00000459174.1_RNA|AC010761.8_ENST00000582718.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	181	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					CCAGGCGGAAGAGAAAGTACA	0.512																																						uc002hco.2		NaN																	0					0						c.(541-543)CTC>CTG		TLC domain containing 1 isoform 1							142.0	120.0	127.0					17																	27051729		2203	4300	6503	SO:0001819	synonymous_variant	116238					integral to membrane		g.chr17:27051729G>C	BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.543C>G	17.37:g.27051729G>C						TLCD1_uc010waw.1_Silent_p.L134L	p.L181L	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN			4	658	-	Lung NSC(42;0.00431)		181			TLC.|Helical; (Potential).		A8MYP9	Silent	SNP	ENST00000292090.3	37	c.543C>G	CCDS11242.1																																																																																				0.512	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1		NM_138463		23	94	0	0	0	0.003954	0	23	94		
TAOK1	57551	broad.mit.edu	37	17	27809286	27809286	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:27809286G>A	ENST00000261716.3	+	8	1154	c.635G>A	c.(634-636)gGa>gAa	p.G212E	TAOK1_ENST00000536202.1_Missense_Mutation_p.G212E	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGTCTCTTGGAATAACATGT	0.318																																						uc002hdz.1		NaN																	0				upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(634-636)GGA>GAA		TAO kinase 1							185.0	165.0	172.0					17																	27809286		2203	4299	6502	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27809286G>A	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.635G>A	17.37:g.27809286G>A	ENSP00000261716:p.Gly212Glu					TAOK1_uc010wbe.1_Missense_Mutation_p.G212E|TAOK1_uc010wbf.1_Missense_Mutation_p.G212E|TAOK1_uc002heb.1_Missense_Mutation_p.G38E	p.G212E	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		8	829	+			212			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.635G>A	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150658	0.94645	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;T	0.85013	-1.93;-0.69	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.985;1.0	D	0.97004	0.9731	10	0.87932	D	0	.	19.3752	0.94505	0.0:0.0:1.0:0.0	.	212;38;212	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	E	212	ENSP00000261716:G212E;ENSP00000438819:G212E	ENSP00000261716:G212E	G	+	2	0	TAOK1	24833412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.771000	0.98977	2.576000	0.86940	0.591000	0.81541	GGA		0.318	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1		NM_020791		36	70	0	0	0	0.00874	0	36	70		
CPD	1362	broad.mit.edu	37	17	28750013	28750013	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:28750013A>G	ENST00000225719.4	+	5	1705	c.1629A>G	c.(1627-1629)atA>atG	p.I543M	CPD_ENST00000543464.2_Missense_Mutation_p.I296M	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	543	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TGATGGAGATATCTGATAATC	0.383																																						uc002hfb.1		NaN																	0				liver(1)|skin(1)	2						c.(1627-1629)ATA>ATG		carboxypeptidase D precursor							81.0	81.0	81.0					17																	28750013		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28750013A>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1629A>G	17.37:g.28750013A>G	ENSP00000225719:p.Ile543Met					CPD_uc010wbo.1_Missense_Mutation_p.I296M|CPD_uc010wbp.1_RNA	p.I543M	NM_001304	NP_001295	O75976	CBPD_HUMAN			5	1644	+			543			Extracellular (Potential).|Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.1629A>G	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870695	0.51695	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.15834	2.39;2.39	5.84	3.53	0.40419	Peptidase M14, carboxypeptidase A (2);	0.040180	0.85682	D	0.000000	T	0.43255	0.1239	M	0.83012	2.62	0.44603	D	0.997575	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.986	T	0.31724	-0.9933	10	0.46703	T	0.11	.	12.7124	0.57098	0.5792:0.4208:0.0:0.0	.	296;543	F5GZH6;O75976	.;CBPD_HUMAN	M	543;296	ENSP00000225719:I543M;ENSP00000444443:I296M	ENSP00000225719:I543M	I	+	3	3	CPD	25774139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.241000	0.32743	0.430000	0.26230	0.529000	0.55759	ATA		0.383	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3		NM_001304		15	42	0	0	0	0.003163	0	15	42		
CCT6B	10693	broad.mit.edu	37	17	33259398	33259398	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:33259398G>C	ENST00000314144.5	-	11	1450	c.1335C>G	c.(1333-1335)ctC>ctG	p.L445L	CCT6B_ENST00000421975.3_Silent_p.L408L|CCT6B_ENST00000436961.3_Silent_p.L400L	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	445					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TGGGAATAATGAGTAAGGCAT	0.383																																						uc002hig.2		NaN																	0				pancreas(1)	1						c.(1333-1335)CTC>CTG		chaperonin containing TCP1, subunit 6B							152.0	154.0	154.0					17																	33259398		2203	4300	6503	SO:0001819	synonymous_variant	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33259398G>C	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1335C>G	17.37:g.33259398G>C						CCT6B_uc010ctg.2_Silent_p.L408L|CCT6B_uc010wcc.1_Silent_p.L400L	p.L445L	NM_006584	NP_006575	Q92526	TCPW_HUMAN			11	1429	-		Ovarian(249;0.17)	445					B4DX20|B4DYB0|Q8TC34	Silent	SNP	ENST00000314144.5	37	c.1335C>G	CCDS32617.1																																																																																				0.383	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1		NM_006584		20	82	0	0	0	0.014323	0	20	82		
UNC45B	146862	broad.mit.edu	37	17	33482390	33482390	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:33482390C>T	ENST00000268876.5	+	7	812	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	UNC45B_ENST00000591048.1_Silent_p.L239L|UNC45B_ENST00000378449.1_Silent_p.L239L|UNC45B_ENST00000433649.1_Silent_p.L239L|UNC45B_ENST00000394570.2_Silent_p.L239L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	239					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGAGATGTCTCTGGCTGTCTG	0.557																																						uc002hja.2		NaN																	0				ovary(3)|central_nervous_system(2)|breast(1)	6						c.(715-717)CTG>TTG		cardiomyopathy associated 4 isoform 1							184.0	136.0	152.0					17																	33482390		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33482390C>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.715C>T	17.37:g.33482390C>T						UNC45B_uc002hjb.2_Silent_p.L239L|UNC45B_uc002hjc.2_Silent_p.L239L|UNC45B_uc010cto.2_Silent_p.L239L	p.L239L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			7	812	+		Ovarian(249;0.17)	239			ARM 2.		Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.715C>T	CCDS11292.1																																																																																				0.557	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2		NM_173167		40	72	0	0	0	0.00623	0	40	72		
CDC6	990	broad.mit.edu	37	17	38445697	38445697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:38445697C>T	ENST00000209728.4	+	2	496	c.25C>T	c.(25-27)Cag>Tag	p.Q9*		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	9					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						ATCCCAGGCACAGGCTACAAT	0.408																																						uc002huj.1		NaN																	0				ovary(2)|breast(1)	3						c.(25-27)CAG>TAG		cell division cycle 6 protein							79.0	79.0	79.0					17																	38445697		2203	4300	6503	SO:0001587	stop_gained	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38445697C>T	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.25C>T	17.37:g.38445697C>T	ENSP00000209728:p.Gln9*						p.Q9*	NM_001254	NP_001245	Q99741	CDC6_HUMAN			2	235	+			9					Q8TB30	Nonsense_Mutation	SNP	ENST00000209728.4	37	c.25C>T	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	C	40	7.999437	0.98602	.	.	ENSG00000094804	ENST00000209728	.	.	.	4.72	4.72	0.59763	.	0.059670	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-17.7222	16.6173	0.84919	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000209728:Q9X	Q	+	1	0	CDC6	35699223	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	4.639000	0.61361	2.453000	0.82957	0.557000	0.71058	CAG		0.408	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1				29	46	0	0	0	0.003271	0	29	46		
KRT25	147183	broad.mit.edu	37	17	38910244	38910244	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:38910244G>A	ENST00000312150.4	-	3	597	c.537C>T	c.(535-537)caC>caT	p.H179H		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTACACTCTGGTGAAGAGCCA	0.408																																						uc002hve.2		NaN																	0				ovary(2)	2						c.(535-537)CAC>CAT		keratin 25							112.0	104.0	107.0					17																	38910244		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910244G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.537C>T	17.37:g.38910244G>A							p.H179H	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			3	598	-		Breast(137;0.00526)	179			Rod.|Coil 1B.			Silent	SNP	ENST00000312150.4	37	c.537C>T	CCDS11373.1																																																																																				0.408	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1		NM_181534		13	71	0	0	0	0.004007	0	13	71		
PTRF	284119	broad.mit.edu	37	17	40575088	40575088	+	Missense_Mutation	SNP	C	C	G	rs560641597		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:40575088C>G	ENST00000357037.5	-	1	447	c.28G>C	c.(28-30)Gag>Cag	p.E10Q		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGCGGCCGCTCGACAATATAG	0.726													.|||	1	0.000199681	0.0008	0.0	5008	,	,		13522	0.0		0.0	False		,,,				2504	0.0					uc002hzo.2		NaN																	0				breast(1)	1						c.(28-30)GAG>CAG		polymerase I and transcript release factor							5.0	6.0	6.0					17																	40575088		2011	3921	5932	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40575088C>G	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.28G>C	17.37:g.40575088C>G	ENSP00000349541:p.Glu10Gln					PTRF_uc010wgi.1_Missense_Mutation_p.E10Q	p.E10Q	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	1	187	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	10						Missense_Mutation	SNP	ENST00000357037.5	37	c.28G>C	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380678	0.82792	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.62232	0.04	4.83	4.83	0.62350	.	0.296357	0.33732	N	0.004603	T	0.73552	0.3601	L	0.47716	1.5	0.47214	D	0.99935	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	T	0.76116	-0.3077	10	0.66056	D	0.02	-33.014	18.0946	0.89485	0.0:1.0:0.0:0.0	.	10;10	B4DNU9;Q6NZI2	.;PTRF_HUMAN	Q	10	ENSP00000349541:E10Q	ENSP00000349541:E10Q	E	-	1	0	PTRF	37828614	1.000000	0.71417	0.973000	0.42090	0.765000	0.43378	5.181000	0.65054	2.491000	0.84063	0.561000	0.74099	GAG		0.726	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1		NM_012232		3	8	0	0	0	0.004672	0	3	8		
COASY	80347	broad.mit.edu	37	17	40716813	40716813	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:40716813G>A	ENST00000393818.2	+	4	1590	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	MLX_ENST00000435881.2_5'Flank|MLX_ENST00000246912.4_5'Flank|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000420359.1_Silent_p.L378L|COASY_ENST00000421097.2_Silent_p.L378L|COASY_ENST00000590958.1_Silent_p.L407L|MLX_ENST00000346833.4_5'Flank|COASY_ENST00000449624.1_Silent_p.L83L	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	378	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTCAGCGACTGAAGGGCCTGG	0.587																																						uc002hzz.2		NaN																	0					0						c.(1132-1134)CTG>CTA		coenzyme A synthase isoform a							70.0	73.0	72.0					17																	40716813		2203	4300	6503	SO:0001819	synonymous_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40716813G>A	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1134G>A	17.37:g.40716813G>A						COASY_uc010cyj.2_Silent_p.L407L|COASY_uc002iab.2_Silent_p.L83L|COASY_uc002iad.2_Silent_p.L378L|COASY_uc002iac.2_Silent_p.L378L|COASY_uc002iae.2_Silent_p.L173L|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	p.L378L	NM_001042529	NP_001035994	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	5	1291	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	378			DPCK.		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	c.1134G>A	CCDS11429.1																																																																																				0.587	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1		NM_025233		39	73	0	0	0	0.006999	0	39	73		
PLCD3	113026	broad.mit.edu	37	17	43195690	43195690	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:43195690G>A	ENST00000322765.5	-	6	1196	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	361	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TGGGCCCCCCGATCTGGGAGT	0.592																																						uc002iib.2		NaN																	0				breast(2)|lung(1)	3						c.(1081-1083)ATC>ATT		phospholipase C delta 3	Phosphatidylserine(DB00144)						121.0	138.0	132.0					17																	43195690		2017	4173	6190	SO:0001819	synonymous_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43195690G>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1083C>T	17.37:g.43195690G>A							p.I361I	NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN			6	1197	-			361			PI-PLC X-box.		Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37	c.1083C>T																																																																																					0.592	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_133373		28	85	0	0	0	0.013726	0	28	85		
HOXB1	3211	broad.mit.edu	37	17	46607930	46607930	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:46607930G>C	ENST00000239174.6	-	1	429	c.337C>G	c.(337-339)Ccc>Gcc	p.P113A	HOXB1_ENST00000577092.1_Missense_Mutation_p.P113A	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	113					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAGCTCGAGGGATGAAAATAG	0.642																																						uc002ink.1		NaN																	0				ovary(1)	1						c.(337-339)CCC>GCC		homeobox B1							65.0	67.0	66.0					17																	46607930		2203	4300	6503	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607930G>C		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.337C>G	17.37:g.46607930G>C	ENSP00000355140:p.Pro113Ala						p.P113A	NM_002144	NP_002135	P14653	HXB1_HUMAN			1	343	-			113					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.337C>G	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	1.823	-0.471686	0.04445	.	.	ENSG00000120094	ENST00000239174	D	0.90069	-2.61	4.71	4.71	0.59529	.	0.175198	0.28772	N	0.014183	D	0.83751	0.5322	L	0.48642	1.525	0.09310	N	1	B	0.18741	0.03	B	0.15484	0.013	T	0.68500	-0.5392	10	0.20519	T	0.43	.	12.3115	0.54931	0.0844:0.0:0.9156:0.0	.	113	P14653	HXB1_HUMAN	A	113	ENSP00000355140:P113A	ENSP00000355140:P113A	P	-	1	0	HOXB1	43962929	0.913000	0.31002	0.477000	0.27303	0.175000	0.22909	1.745000	0.38278	2.449000	0.82847	0.655000	0.94253	CCC		0.642	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3				25	146	0	0	0	0.00632	0	25	146		
HOXB3	3213	broad.mit.edu	37	17	46628332	46628332	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:46628332C>T	ENST00000470495.1	-	2	2107	c.660G>A	c.(658-660)gaG>gaA	p.E220E	HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000489475.1_Silent_p.E147E|HOXB3_ENST00000490677.1_Silent_p.E86E|HOXB3_ENST00000476342.1_Silent_p.E220E|HOXB3_ENST00000472863.1_Silent_p.E147E|HOXB3_ENST00000460160.1_Silent_p.E88E|HOXB3_ENST00000485909.2_Silent_p.E88E|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Silent_p.E220E|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Silent_p.E220E			P14651	HXB3_HUMAN	homeobox B3	220					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGTTGGCCATCTCTACACGGC	0.607																																						uc002inn.2		NaN																	0					0						c.(658-660)GAG>GAA		homeobox B3							100.0	101.0	101.0					17																	46628332		2203	4300	6503	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628332C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.660G>A	17.37:g.46628332C>T						HOXB3_uc010wlm.1_Silent_p.E147E|HOXB3_uc010dbf.2_Silent_p.E220E|HOXB3_uc010dbg.2_Silent_p.E220E|HOXB3_uc002ino.2_Silent_p.E220E|HOXB3_uc010wlk.1_Silent_p.E88E|HOXB3_uc010wll.1_Silent_p.E147E	p.E220E	NM_002146	NP_002137	P14651	HXB3_HUMAN			2	1060	-			220			Homeobox.		A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.660G>A	CCDS11528.1																																																																																				0.607	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1				53	229	0	0	0	0.01441	0	53	229		
HOXB9	3219	broad.mit.edu	37	17	46703546	46703547	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:46703546_46703547GG>AA	ENST00000311177.5	-	1	292_293	c.85_86CC>TT	c.(85-87)CCt>TTt	p.P29F	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Missense_Mutation_p.P29F|HOXB-AS4_ENST00000480386.1_RNA	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	29					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CTGGCCAGAAGGAAACTTGGCT	0.604																																						uc002inx.2		NaN																	0					0						c.(85-87)CCT>TTT		homeobox B9																																				SO:0001583	missense	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46703546_46703547GG>AA		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.85_86delinsAA	17.37:g.46703546_46703547delinsAA	ENSP00000309439:p.Pro29Phe						p.P29F	NM_024017	NP_076922	P17482	HXB9_HUMAN			1	289_290	-			29					B2RDB7|Q9H1I1	Missense_Mutation	DNP	ENST00000311177.5	37	c.85_86CC>TT	CCDS11534.1																																																																																				0.604	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2				6	24	0	0	0	0.004672	0	6	24		
EPN3	55040	broad.mit.edu	37	17	48614133	48614133	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:48614133G>A	ENST00000268933.3	+	2	795	c.216G>A	c.(214-216)cgG>cgA	p.R72R	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.R127R|EPN3_ENST00000541226.1_Silent_p.R16R	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	72	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.					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)			AGAACTGGCGGCACGTGTACA	0.597																																						uc002ira.3		NaN																	0				ovary(1)	1						c.(214-216)CGG>CGA		epsin 3							99.0	93.0	95.0					17																	48614133		2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48614133G>A	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.216G>A	17.37:g.48614133G>A						EPN3_uc010wms.1_Silent_p.R127R|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.R72R	p.R72R	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		2	651	+	Breast(11;1.23e-18)		72			ENTH.		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	c.216G>A	CCDS11570.1																																																																																				0.597	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1		NM_017957		31	131	0	0	0	0.009535	0	31	131		
SPAG9	9043	broad.mit.edu	37	17	49198014	49198014	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:49198014C>G	ENST00000262013.7	-	1	212	c.4G>C	c.(4-6)Gag>Cag	p.E2Q	SPAG9_ENST00000505279.1_Missense_Mutation_p.E2Q|SPAG9_ENST00000357122.4_Missense_Mutation_p.E2Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	2					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCCTCCAGCTCCATGGTGGCA	0.746																																						uc002itc.2		NaN																	0				lung(4)|breast(1)	5						c.(4-6)GAG>CAG		sperm associated antigen 9 isoform 1							10.0	11.0	10.0					17																	49198014		2185	4276	6461	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49198014C>G	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.4G>C	17.37:g.49198014C>G	ENSP00000262013:p.Glu2Gln					SPAG9_uc002itb.2_Missense_Mutation_p.E2Q|SPAG9_uc002itd.2_Missense_Mutation_p.E2Q	p.E2Q	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		1	213	-			2					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.4G>C	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370660	0.82573	.	.	ENSG00000008294	ENST00000262013;ENST00000505279;ENST00000357122;ENST00000546269	T;T;T	0.27557	1.66;1.72;1.71	3.69	3.69	0.42338	.	0.206959	0.29002	U	0.013458	T	0.36524	0.0970	N	0.16478	0.41	0.38386	D	0.945263	D;D;D	0.89917	0.982;0.985;1.0	P;P;D	0.85130	0.865;0.76;0.997	T	0.20806	-1.0264	10	0.17832	T	0.49	-9.7077	15.4447	0.75220	0.0:1.0:0.0:0.0	.	2;2;2	O60271-2;O60271;O60271-4	.;JIP4_HUMAN;.	Q	2	ENSP00000262013:E2Q;ENSP00000426900:E2Q;ENSP00000349636:E2Q	ENSP00000262013:E2Q	E	-	1	0	SPAG9	46553013	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	3.837000	0.55820	1.770000	0.52166	0.186000	0.17326	GAG		0.746	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2		NM_003971		5	8	0	0	0	0.001168	0	5	8		
CA10	56934	broad.mit.edu	37	17	49825019	49825019	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:49825019G>A	ENST00000285273.4	-	5	1550	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	CA10_ENST00000570565.1_Missense_Mutation_p.L72F|CA10_ENST00000340813.6_Missense_Mutation_p.L153F|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.L147F|CA10_ENST00000451037.2_Missense_Mutation_p.L147F	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	147					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TGTCCATTGAGGAGGTGCTCC	0.507																																						uc002itw.3		NaN																	0				ovary(1)|skin(1)	2						c.(439-441)CTC>TTC		carbonic anhydrase X							186.0	170.0	175.0					17																	49825019		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49825019G>A	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.439C>T	17.37:g.49825019G>A	ENSP00000285273:p.Leu147Phe					CA10_uc002itu.3_Missense_Mutation_p.L76F|CA10_uc002itv.3_Missense_Mutation_p.L153F|CA10_uc002itx.3_Missense_Mutation_p.L147F|CA10_uc002ity.3_Missense_Mutation_p.L147F|CA10_uc002itz.2_Missense_Mutation_p.L147F	p.L147F	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		4	1425	-			147					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.439C>T	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	g	30	5.057691	0.93846	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.72	5.72	0.89469	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.76800	0.4038	L	0.48218	1.51	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.966	D;D;P	0.66084	0.941;0.941;0.889	T	0.73132	-0.4079	9	.	.	.	.	19.2318	0.93843	0.0:0.0:1.0:0.0	.	147;153;72	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	F	147;147;147;153	ENSP00000390666:L147F;ENSP00000285273:L147F;ENSP00000405388:L147F;ENSP00000340363:L153F	.	L	-	1	0	CA10	47180018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.772000	0.98984	2.865000	0.98341	0.655000	0.94253	CTC		0.507	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1		NM_020178		38	183	0	0	0	0.01441	0	38	183		
PCTP	58488	broad.mit.edu	37	17	53844767	53844767	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:53844767C>T	ENST00000268896.5	+	2	338	c.213C>T	c.(211-213)atC>atT	p.I71I	PCTP_ENST00000573500.1_Silent_p.I71I|PCTP_ENST00000576183.1_Silent_p.I71I|PCTP_ENST00000325214.6_5'UTR	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	71	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|phospholipid transport (GO:0015914)	cytosol (GO:0005829)	phosphatidylcholine binding (GO:0031210)|phosphatidylcholine transporter activity (GO:0008525)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TGGCAGACATCTATATGGACT	0.378																																						uc002iul.3		NaN																	0				lung(1)	1						c.(211-213)ATC>ATT		phosphatidylcholine transfer protein isoform 1							133.0	120.0	124.0					17																	53844767		2203	4300	6503	SO:0001819	synonymous_variant	58488					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity	g.chr17:53844767C>T	AK024667	CCDS11588.1, CCDS45741.1	17q21-q24	2011-09-13				ENSG00000141179		"""StAR-related lipid transfer (START) domain containing"""	8752	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 2"""	606055					Standard	NM_021213		Approved	STARD2	uc002iul.4	Q9UKL6		ENST00000268896.5:c.213C>T	17.37:g.53844767C>T						PCTP_uc002ium.3_5'UTR|PCTP_uc010dcg.2_Silent_p.I71I|PCTP_uc010dch.2_RNA	p.I71I	NM_021213	NP_067036	Q9UKL6	PPCT_HUMAN	BRCA - Breast invasive adenocarcinoma(1;0.00207)		2	322	+			71			START.		Q9BSC9|Q9UIT3|Q9UKW7	Silent	SNP	ENST00000268896.5	37	c.213C>T	CCDS11588.1																																																																																				0.378	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2		NM_021213		21	36	0	0	0	0.00632	0	21	36		
PTRH2	51651	broad.mit.edu	37	17	57775139	57775139	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:57775139C>T	ENST00000470557.2	-	1	3647	c.201G>A	c.(199-201)atG>atA	p.M67I	PTRH2_ENST00000409433.2_Missense_Mutation_p.M68I|PTRH2_ENST00000393038.2_Missense_Mutation_p.M67I|PTRH2_ENST00000579915.1_5'Flank|PTRH2_ENST00000537860.1_Missense_Mutation_p.M67I			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	67					apoptotic process (GO:0006915)|negative regulation of anoikis (GO:2000811)|negative regulation of gene expression (GO:0010629)|positive regulation of anoikis (GO:2000210)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCACAAGAATCATCTTGTACT	0.468																																						uc002ixt.2		NaN																	0					0						c.(199-201)ATG>ATA		Bcl-2 inhibitor of transcription precursor							141.0	122.0	129.0					17																	57775139		2203	4300	6503	SO:0001583	missense	51651				apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity	g.chr17:57775139C>T	AF151905	CCDS11618.1	17q23.2	2014-07-18			ENSG00000141378	ENSG00000141378			24265	protein-coding gene	gene with protein product	"""Bcl-2 inhibitor of transcription"", ""cilia and flagella associated protein 37"""	608625				10810093, 15006356, 14660562	Standard	XM_005257447		Approved	BIT1, CGI-147, PTH2, CFAP37	uc002ixt.3	Q9Y3E5	OTTHUMG00000154532	ENST00000470557.2:c.201G>A	17.37:g.57775139C>T	ENSP00000464327:p.Met67Ile					PTRH2_uc002ixs.2_RNA	p.M67I	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN			2	326	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		67					B3KUY4|Q9NTE5	Missense_Mutation	SNP	ENST00000470557.2	37	c.201G>A	CCDS11618.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450511	0.84101	.	.	ENSG00000141378	ENST00000393038;ENST00000409433;ENST00000537860	.	.	.	5.72	5.72	0.89469	Peptidyl-tRNA hydrolase II domain (2);	0.000000	0.85682	U	0.000000	T	0.74642	0.3743	M	0.92268	3.29	0.80722	D	1	D	0.54964	0.969	B	0.42959	0.403	T	0.82837	-0.0260	9	0.72032	D	0.01	-10.382	19.8753	0.96867	0.0:1.0:0.0:0.0	.	67	Q9Y3E5	PTH2_HUMAN	I	67;68;67	.	ENSP00000376758:M67I	M	-	3	0	PTRH2	55129921	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.672000	0.61597	2.711000	0.92665	0.655000	0.94253	ATG		0.468	PTRH2-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000448482.1		NM_016077		36	93	0	0	0	0.003755	0	36	93		
KCNH6	81033	broad.mit.edu	37	17	61623247	61623247	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:61623247G>A	ENST00000583023.1	+	14	2980	c.2969G>A	c.(2968-2970)gGg>gAg	p.G990E	KCNH6_ENST00000456941.2_Missense_Mutation_p.G901E|KCNH6_ENST00000314672.5_Missense_Mutation_p.G954E|KCNH6_ENST00000581784.1_Missense_Mutation_p.G901E	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	990					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGATTTGCAGGGAGTTGGGGC	0.567																																						uc002jay.2		NaN																	0				skin(1)	1						c.(2968-2970)GGG>GAG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						67.0	64.0	65.0					17																	61623247		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61623247G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2969G>A	17.37:g.61623247G>A	ENSP00000463533:p.Gly990Glu					KCNH6_uc010wpl.1_Missense_Mutation_p.G831E|KCNH6_uc010wpm.1_Missense_Mutation_p.G954E|KCNH6_uc002jaz.1_Missense_Mutation_p.G901E	p.G990E	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			14	3049	+			990			Cytoplasmic (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.2969G>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786550	0.70337	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99804	-6.83	4.57	3.58	0.41010	.	0.277746	0.22492	U	0.059348	D	0.98931	0.9637	L	0.40543	1.245	0.30933	N	0.726636	B;P;B;P	0.43352	0.191;0.804;0.29;0.804	B;B;B;B	0.43754	0.073;0.356;0.154;0.43	D	0.99916	1.1224	10	0.72032	D	0.01	.	10.7528	0.46219	0.0:0.1424:0.7099:0.1477	.	831;954;901;990	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	E	990;901	ENSP00000396900:G901E	ENSP00000318212:G990E	G	+	2	0	KCNH6	58976979	0.999000	0.42202	0.278000	0.24718	0.971000	0.66376	3.071000	0.50041	1.011000	0.39340	0.563000	0.77884	GGG		0.567	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1		NM_030779		17	52	0	0	0	0.007413	0	17	52		
DDX5	1655	broad.mit.edu	37	17	62499341	62499341	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:62499341C>T	ENST00000225792.5	-	7	1176	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	DDX5_ENST00000450599.2_Missense_Mutation_p.E180K|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.E259K|DDX5_ENST00000580026.1_5'Flank|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	259	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ATTTGGGGTTCAAAGCCCATA	0.363			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc002jek.2		NaN		Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				ovary(2)|lung(1)	3						c.(775-777)GAA>AAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 5							141.0	142.0	142.0					17																	62499341		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62499341C>T	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.775G>A	17.37:g.62499341C>T	ENSP00000225792:p.Glu259Lys					DDX5_uc010deh.2_Missense_Mutation_p.E259K|DDX5_uc002jej.2_Missense_Mutation_p.E154K|DDX5_uc010wqa.1_Missense_Mutation_p.E180K|DDX5_uc002jel.1_Missense_Mutation_p.E7K	p.E259K	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		7	1022	-	Breast(5;2.15e-14)		259			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.775G>A	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331477	0.60853	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.43	5.43	0.79202	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.998;0.998	T	0.79374	-0.1830	9	0.87932	D	0	-15.2669	19.2689	0.94000	0.0:1.0:0.0:0.0	.	180;259;248;259	B4DLW8;B5BUE6;B4DN41;P17844	.;.;.;DDX5_HUMAN	K	259;189;248	.	ENSP00000225792:E248K	E	-	1	0	DDX5	59929803	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.300000	0.78841	2.546000	0.85860	0.655000	0.94253	GAA		0.363	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1		NM_004396		20	92	0	0	0	0.004656	0	20	92		
CEP95	90799	broad.mit.edu	37	17	62523291	62523291	+	Silent	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:62523291T>C	ENST00000556440.2	+	11	1725	c.1215T>C	c.(1213-1215)acT>acC	p.T405T	CEP95_ENST00000577476.1_3'UTR|CEP95_ENST00000553412.1_Silent_p.T241T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	405						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAGAAAATACTGGAAATGAGG	0.413																																						uc002jem.2		NaN																	0					0						c.(1213-1215)ACT>ACC		coiled-coil domain containing 45							104.0	98.0	100.0					17																	62523291		1929	4128	6057	SO:0001819	synonymous_variant	90799					centrosome|spindle pole	protein binding	g.chr17:62523291T>C	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1215T>C	17.37:g.62523291T>C						CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Silent_p.T241T	p.T405T	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		11	1273	+	Breast(5;1.32e-14)		405					B4DMD2|Q96M81	Silent	SNP	ENST00000556440.2	37	c.1215T>C	CCDS45763.1																																																																																				0.413	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2		NM_138363		6	30	0	0	0	0.001984	0	6	30		
BPTF	2186	broad.mit.edu	37	17	65890162	65890162	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:65890162C>G	ENST00000321892.4	+	9	2863	c.2802C>G	c.(2800-2802)atC>atG	p.I934M	BPTF_ENST00000335221.5_Missense_Mutation_p.I934M|BPTF_ENST00000306378.6_Missense_Mutation_p.I808M|BPTF_ENST00000424123.3_Missense_Mutation_p.I795M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	934					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAATTGGATCAAGGCAGTTC	0.393																																						uc002jgf.2		NaN																	0				ovary(2)|skin(2)	4						c.(2422-2424)ATC>ATG		bromodomain PHD finger transcription factor							129.0	124.0	126.0					17																	65890162		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65890162C>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2802C>G	17.37:g.65890162C>G	ENSP00000315454:p.Ile934Met					BPTF_uc002jge.2_Missense_Mutation_p.I934M|BPTF_uc010wqm.1_Missense_Mutation_p.I871M	p.I808M	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	2485	+	all_cancers(12;6e-11)		934					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.2424C>G		.	.	.	.	.	.	.	.	.	.	C	13.00	2.106247	0.37145	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.65549	-0.14;-0.16;-0.15	5.42	3.41	0.39046	.	.	.	.	.	T	0.73528	0.3598	M	0.75264	2.295	0.53005	D	0.999962	D;D;D	0.76494	0.996;0.999;0.999	P;D;D	0.83275	0.823;0.993;0.996	T	0.73965	-0.3816	9	0.72032	D	0.01	-10.3924	5.0049	0.14282	0.16:0.6126:0.0:0.2274	.	934;808;934	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	M	808;934;934;732	ENSP00000307208:I808M;ENSP00000334351:I934M;ENSP00000315454:I934M	ENSP00000307208:I808M	I	+	3	3	BPTF	63320624	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	0.588000	0.23924	1.428000	0.47296	0.655000	0.94253	ATC		0.393	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459		48	69	0	0	0	0.01441	0	48	69		
COG1	9382	broad.mit.edu	37	17	71192710	71192710	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:71192710T>A	ENST00000299886.4	+	2	460	c.380T>A	c.(379-381)aTt>aAt	p.I127N	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	127					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CTCTTAGAAATTCCGGAGAAG	0.557																																						uc002jjg.2		NaN																	0				ovary(1)	1						c.(379-381)ATT>AAT		component of oligomeric golgi complex 1							108.0	114.0	112.0					17																	71192710		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71192710T>A		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.380T>A	17.37:g.71192710T>A	ENSP00000299886:p.Ile127Asn					COG1_uc002jjh.2_Missense_Mutation_p.I127N|COG1_uc002jjf.1_Missense_Mutation_p.I127N	p.I127N	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	416	+			127					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.380T>A	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293290	0.23564	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.26660	1.72;1.73	4.81	4.81	0.61882	.	0.180838	0.47455	D	0.000234	T	0.44329	0.1288	L	0.53249	1.67	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.993;1.0	D;P;D	0.65684	0.937;0.851;0.937	T	0.38650	-0.9651	10	0.59425	D	0.04	-25.2011	14.5448	0.68020	0.0:0.0:0.0:1.0	.	127;127;127	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	N	127	ENSP00000400111:I127N;ENSP00000299886:I127N	ENSP00000299886:I127N	I	+	2	0	COG1	68704305	1.000000	0.71417	0.482000	0.27366	0.238000	0.25445	5.531000	0.67148	2.023000	0.59567	0.482000	0.46254	ATT		0.557	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1				65	118	0	0	0	0.01441	0	65	118		
BTBD17	388419	broad.mit.edu	37	17	72353375	72353375	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:72353375C>T	ENST00000375366.3	-	3	984	c.858G>A	c.(856-858)ctG>ctA	p.L286L		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	286					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						AGGCCTGCAGCAGGAGGTCGG	0.711																																						uc002jkn.2		NaN																	0					0						c.(856-858)CTG>CTA		BTB (POZ) domain containing 17 precursor							6.0	8.0	8.0					17																	72353375		2094	4098	6192	SO:0001819	synonymous_variant	388419					extracellular region		g.chr17:72353375C>T		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.858G>A	17.37:g.72353375C>T							p.L286L	NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN			3	858	-			286						Silent	SNP	ENST00000375366.3	37	c.858G>A	CCDS32719.1																																																																																				0.711	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1		NM_001080466		4	6	0	0	0	0.001168	0	4	6		
GRB2	2885	broad.mit.edu	37	17	73316530	73316530	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:73316530G>C	ENST00000392562.1	-	6	1355	c.573C>G	c.(571-573)ccC>ccG	p.P191P	GRB2_ENST00000316615.5_Silent_p.P150P|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392564.1_Silent_p.P191P|GRB2_ENST00000578961.1_Missense_Mutation_p.P135R|GRB2_ENST00000392563.1_Silent_p.P150P|GRB2_ENST00000316804.5_Silent_p.P191P			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	191	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TCCACCAGTTGGGGTCTGAGT	0.537																																						uc002jnx.3		NaN																	0				ovary(3)	3						c.(571-573)CCC>CCG		growth factor receptor-bound protein 2 isoform	Pegademase bovine(DB00061)						133.0	139.0	137.0					17																	73316530		2203	4300	6503	SO:0001819	synonymous_variant	2885				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73316530G>C		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.573C>G	17.37:g.73316530G>C						GRB2_uc002jny.3_Silent_p.P150P	p.P191P	NM_002086	NP_002077	P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		6	930	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		191			SH3 2.		P29354|Q14450|Q63057|Q63059	Silent	SNP	ENST00000392562.1	37	c.573C>G	CCDS11721.1																																																																																				0.537	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1				56	196	0	0	0	0.01441	0	56	196		
ITGB4	3691	broad.mit.edu	37	17	73727372	73727372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:73727372G>A	ENST00000200181.3	+	10	1325	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	ITGB4_ENST00000450894.3_Missense_Mutation_p.G380S|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.G380S|ITGB4_ENST00000579662.1_Missense_Mutation_p.G380S|ITGB4_ENST00000449880.2_Missense_Mutation_p.G380S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	380					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCCCCCGAGGCCTTCGGAC	0.637																																						uc002jpg.2		NaN																	0				lung(4)	4						c.(1138-1140)GGC>AGC		integrin beta 4 isoform 1 precursor							63.0	57.0	59.0					17																	73727372		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73727372G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1138G>A	17.37:g.73727372G>A	ENSP00000200181:p.Gly380Ser					ITGB4_uc002jph.2_Missense_Mutation_p.G380S|ITGB4_uc010dgo.2_Missense_Mutation_p.G380S|ITGB4_uc002jpi.3_Missense_Mutation_p.G380S|ITGB4_uc010dgp.1_Missense_Mutation_p.G380S|ITGB4_uc002jpj.2_Missense_Mutation_p.G380S|ITGB4_uc010wsh.1_5'Flank	p.G380S	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		10	1325	+	all_cancers(13;1.5e-07)		380			Extracellular (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.1138G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096022	0.56075	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92348	-3.02;-3.02;-3.02	4.97	4.97	0.65823	Integrin beta subunit, N-terminal (2);	0.064498	0.64402	D	0.000012	D	0.93716	0.7992	L	0.47078	1.49	0.42150	D	0.99155	P;D;D;D	0.55605	0.753;0.965;0.972;0.972	B;P;P;P	0.58721	0.406;0.758;0.844;0.844	D	0.94528	0.7733	10	0.66056	D	0.02	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	380;380;380;380	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	S	296;380;380;380	ENSP00000200181:G380S;ENSP00000344079:G380S;ENSP00000400217:G380S	ENSP00000200181:G380S	G	+	1	0	ITGB4	71238967	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.224000	0.58593	2.294000	0.77228	0.455000	0.32223	GGC		0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1				15	97	0	0	0	0.003163	0	15	97		
SRSF2	6427	broad.mit.edu	37	17	74732409	74732409	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:74732409C>T	ENST00000392485.2	-	2	672	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000508921.3_Missense_Mutation_p.R155Q|SRSF2_ENST00000359995.5_Missense_Mutation_p.R167Q|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	167	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTTGGACCTTCGTGCGGATCT	0.622			Mis		"""MDS, CLL"""																																	uc002jsv.2		NaN		Dom	yes		17	17q25	6427		serine/arginine-rich splicing factor 2			L					0					0						c.(499-501)CGA>CAA		splicing factor, arginine/serine-rich 2							116.0	91.0	100.0					17																	74732409		2203	4300	6503	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732409C>T	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.500G>A	17.37:g.74732409C>T	ENSP00000376276:p.Arg167Gln					SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R167Q|SFRS2_uc010wtg.1_Missense_Mutation_p.R155Q|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	p.R167Q	NM_003016	NP_003007	Q01130	SRSF2_HUMAN			2	670	-			167			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.500G>A	CCDS11749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.59|18.59	3.657154|3.657154	0.67586|0.67586	.|.	.|.	ENSG00000161547|ENSG00000161547	ENST00000452355|ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	.|T	.|0.11063	.|2.81	5.31|5.31	4.34|4.34	0.51931|0.51931	.|.	.|0.225109	.|0.23323	.|N	.|0.049421	T|T	0.11750|0.11750	0.0286|0.0286	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|B;B	.|0.21821	.|0.061;0.061	.|B;B	.|0.15052	.|0.012;0.012	T|T	0.05468|0.05468	-1.0883|-1.0883	6|10	0.06625|0.27082	T|T	0.88|0.32	.|.	13.8534|13.8534	0.63510|0.63510	0.0:0.9259:0.0:0.0741|0.0:0.9259:0.0:0.0741	.|.	.|155;167	.|B4DN89;Q01130	.|.;SRSF2_HUMAN	K|Q	117|167;194;155;147	.|ENSP00000376276:R167Q	ENSP00000391278:E117K|ENSP00000350877:R155Q	E|R	-|-	1|2	0|0	SRSF2|SRSF2	72244004|72244004	0.998000|0.998000	0.40836|0.40836	0.169000|0.169000	0.22859|0.22859	0.955000|0.955000	0.61496|0.61496	4.805000|4.805000	0.62561|0.62561	1.211000|1.211000	0.43351|0.43351	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.622	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1		NM_003016		20	92	0	0	0	0.00333	0	20	92		
DNAH17	8632	broad.mit.edu	37	17	76503684	76503684	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:76503684G>A	ENST00000585328.1	-	28	4555	c.4431C>T	c.(4429-4431)tcC>tcT	p.S1477S	DNAH17_ENST00000389840.5_Silent_p.S1476S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1476	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCGCCGTGGACAGCTTCT	0.592																																						uc010wtu.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(313-315)TCC>TCT		full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human).							46.0	53.0	50.0					17																	76503684		2170	4285	6455	SO:0001819	synonymous_variant	8632							g.chr17:76503684G>A	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.4431C>T	17.37:g.76503684G>A							p.S105S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		2	492	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.315C>T																																																																																					0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		10	55	0	0	0	0.013537	0	10	55		
CCDC40	55036	broad.mit.edu	37	17	78073333	78073333	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:78073333C>G	ENST00000397545.4	+	20	3215	c.3188C>G	c.(3187-3189)tCa>tGa	p.S1063*	GAA_ENST00000302262.3_5'Flank|GAA_ENST00000390015.3_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1063					axonemal dynein complex assembly (GO:0070286)|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 (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAGAACCTTTCAGAGATCGTG	0.552																																						uc010dht.2		NaN																	0				ovary(3)	3						c.(3187-3189)TCA>TGA		coiled-coil domain containing 40							49.0	56.0	54.0					17																	78073333		1930	4134	6064	SO:0001587	stop_gained	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78073333C>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3188C>G	17.37:g.78073333C>G	ENSP00000380679:p.Ser1063*					CCDC40_uc002jxm.3_Nonsense_Mutation_p.S846*|CCDC40_uc002jxn.3_Nonsense_Mutation_p.S459*|GAA_uc002jxo.2_5'Flank|GAA_uc002jxp.2_5'Flank|GAA_uc002jxq.2_5'Flank	p.S1063*	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		20	3215	+	all_neural(118;0.167)		1063					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Nonsense_Mutation	SNP	ENST00000397545.4	37	c.3188C>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335189	0.81801	.	.	ENSG00000141519	ENST00000397545	.	.	.	4.76	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-0.1604	5.5156	0.16904	0.0:0.4395:0.137:0.4234	.	.	.	.	X	1063	.	ENSP00000380679:S1063X	S	+	2	0	CCDC40	75687928	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.042000	0.13949	-0.013000	0.14199	-0.176000	0.13171	TCA		0.552	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2		XM_371082		34	35	0	0	0	0.006999	0	34	35		
P4HB	5034	broad.mit.edu	37	17	79813139	79813139	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:79813139G>A	ENST00000331483.4	-	4	725	c.503C>T	c.(502-504)tCt>tTt	p.S168F	P4HB_ENST00000439918.2_Missense_Mutation_p.S124F|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	168					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CTGCTTGGCAGAGTCCGACTC	0.552																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1		NaN																	0					0						c.(502-504)TCT>TTT		prolyl 4-hydroxylase, beta subunit precursor							141.0	120.0	127.0					17																	79813139		2203	4300	6503	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79813139G>A	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.503C>T	17.37:g.79813139G>A	ENSP00000327801:p.Ser168Phe					P4HB_uc002kbm.1_5'UTR	p.S168F	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		4	700	-	all_neural(118;0.0878)|Ovarian(332;0.12)		168					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.503C>T	CCDS11787.1	.	.	.	.	.	.	.	.	.	.	G	5.220	0.226025	0.09916	.	.	ENSG00000185624	ENST00000331483;ENST00000436463	T	0.23950	1.88	4.45	-1.73	0.08081	Thioredoxin-like fold (2);	1.433020	0.04025	N	0.300337	T	0.21427	0.0516	N	0.25647	0.755	0.19300	N	0.999976	B	0.06786	0.001	B	0.12156	0.007	T	0.40997	-0.9533	10	0.52906	T	0.07	.	12.683	0.56932	0.2562:0.0:0.7438:0.0	.	168	P07237	PDIA1_HUMAN	F	168;152	ENSP00000327801:S168F	ENSP00000327801:S168F	S	-	2	0	P4HB	77406428	0.009000	0.17119	0.435000	0.26784	0.163000	0.22366	0.806000	0.27126	-0.314000	0.08716	-0.379000	0.06801	TCT		0.552	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3		NM_000918		35	117	0	0	0	0.004289	0	35	117		
DLGAP1	9229	broad.mit.edu	37	18	3499318	3499318	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:3499318C>T	ENST00000315677.3	-	13	3394	c.2799G>A	c.(2797-2799)ctG>ctA	p.L933L	DLGAP1_ENST00000534970.1_Silent_p.L617L|DLGAP1_ENST00000400147.2_Silent_p.L631L|DLGAP1_ENST00000400149.3_Silent_p.L623L|DLGAP1_ENST00000400150.3_Silent_p.L649L|DLGAP1_ENST00000400155.1_Silent_p.L639L|DLGAP1_ENST00000581699.1_Silent_p.L639L|DLGAP1_ENST00000584874.1_Silent_p.L933L|DLGAP1_ENST00000539435.1_Silent_p.L641L	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	933					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCGAGCTCTCCAGCGAGCGCT	0.697																																						uc002kmf.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2797-2799)CTG>CTA		discs large homolog-associated protein 1 isoform							4.0	5.0	5.0					18																	3499318		2080	4052	6132	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3499318C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2799G>A	18.37:g.3499318C>T						DLGAP1_uc002kme.1_Silent_p.L631L|DLGAP1_uc010dkn.2_Silent_p.L641L|DLGAP1_uc010wyw.1_Silent_p.L639L|DLGAP1_uc010wyx.1_Silent_p.L655L|DLGAP1_uc010wyy.1_Silent_p.L617L	p.L933L	NM_004746	NP_004737	O14490	DLGP1_HUMAN			10	2866	-		Colorectal(8;0.0257)	933					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.2799G>A	CCDS11836.1																																																																																				0.697	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4				3	9	0	0	0	0.004672	0	3	9		
EPB41L3	23136	broad.mit.edu	37	18	5438071	5438071	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:5438071G>C	ENST00000341928.2	-	6	908	c.568C>G	c.(568-570)Cca>Gca	p.P190A	EPB41L3_ENST00000400111.3_Missense_Mutation_p.P190A|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P190A|EPB41L3_ENST00000540638.2_Missense_Mutation_p.P190A|EPB41L3_ENST00000544123.1_Missense_Mutation_p.P190A|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	190	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGGTCTGGTGGATAAAATTTC	0.383																																						uc002kmt.1		NaN																	0				ovary(5)	5						c.(568-570)CCA>GCA		erythrocyte membrane protein band 4.1-like 3							116.0	112.0	113.0					18																	5438071		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5438071G>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.568C>G	18.37:g.5438071G>C	ENSP00000343158:p.Pro190Ala					EPB41L3_uc010wzh.1_Missense_Mutation_p.P190A|EPB41L3_uc002kmu.1_Missense_Mutation_p.P190A|EPB41L3_uc010dkq.1_Missense_Mutation_p.P81A|EPB41L3_uc010dks.1_Missense_Mutation_p.P212A|EPB41L3_uc002kmv.1_Missense_Mutation_p.P81A	p.P190A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			6	654	-			190			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.568C>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882957	0.91740	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.83	5.83	0.93111	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89550	0.6747	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.994;0.993;0.998;0.996;0.994	D	0.89023	0.3436	10	0.51188	T	0.08	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	190;190;81;190;190	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	A	190;81;190;81;190;190;271	ENSP00000343158:P190A;ENSP00000441174:P190A;ENSP00000341138:P190A;ENSP00000382981:P190A	ENSP00000343158:P190A	P	-	1	0	EPB41L3	5428071	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.830000	0.99415	2.769000	0.95229	0.655000	0.94253	CCA		0.383	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1		NM_012307		15	49	0	0	0	0.014323	0	15	49		
MIB1	57534	broad.mit.edu	37	18	19321641	19321641	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:19321641G>A	ENST00000261537.6	+	1	361	c.97G>A	c.(97-99)Gag>Aag	p.E33K	MIB1_ENST00000578646.1_Intron	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	33	MIB/HERC2 1. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGACGGCGGCGAGGGCCATGT	0.667																																						uc002ktq.2		NaN																	0				ovary(4)	4						c.(97-99)GAG>AAG		mindbomb homolog 1							23.0	23.0	23.0					18																	19321641		2198	4291	6489	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19321641G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.97G>A	18.37:g.19321641G>A	ENSP00000261537:p.Glu33Lys					MIB1_uc002ktp.2_Intron	p.E33K	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		1	97	+			33			MIB/HERC2 1.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.97G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	36	5.635387	0.96682	.	.	ENSG00000101752	ENST00000261537	T	0.39997	1.05	4.19	4.19	0.49359	Mib-herc2 (2);	0.181162	0.47093	D	0.000250	T	0.64821	0.2633	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71563	-0.4555	10	0.87932	D	0	-12.5944	16.4977	0.84249	0.0:0.0:1.0:0.0	.	33	Q86YT6	MIB1_HUMAN	K	33	ENSP00000261537:E33K	ENSP00000261537:E33K	E	+	1	0	MIB1	17575639	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.474000	0.97718	1.870000	0.54199	0.313000	0.20887	GAG		0.667	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1		NM_020774		14	22	0	0	0	0.003163	0	14	22		
NPC1	4864	broad.mit.edu	37	18	21136222	21136222	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:21136222T>C	ENST00000269228.5	-	8	1865	c.1311A>G	c.(1309-1311)atA>atG	p.I437M	NPC1_ENST00000412552.2_Missense_Mutation_p.I187M|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	437					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCAGTATCTGTATGTCAAGCG	0.498																																						uc002kum.3		NaN																	0				ovary(2)	2						c.(1309-1311)ATA>ATG		Niemann-Pick disease, type C1 precursor							121.0	112.0	115.0					18																	21136222		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21136222T>C	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1311A>G	18.37:g.21136222T>C	ENSP00000269228:p.Ile437Met					NPC1_uc010xaz.1_Missense_Mutation_p.I238M|NPC1_uc010xba.1_Missense_Mutation_p.I282M	p.I437M	NM_000271	NP_000262	O15118	NPC1_HUMAN			8	1585	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		437					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.1311A>G	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	8.871	0.949362	0.18356	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.88354	-2.37;-2.37	5.53	0.0779	0.14410	.	0.722591	0.14444	N	0.319190	T	0.70011	0.3175	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.57435	-0.7812	10	0.34782	T	0.22	0.1626	2.5213	0.04681	0.2364:0.0647:0.246:0.4529	.	448;437	Q59GR1;O15118	.;NPC1_HUMAN	M	437;187;282	ENSP00000269228:I437M;ENSP00000408606:I187M	ENSP00000269228:I437M	I	-	3	3	NPC1	19390220	0.040000	0.19996	0.002000	0.10522	0.689000	0.40095	0.718000	0.25866	-0.135000	0.11495	0.533000	0.62120	ATA		0.498	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2		NM_000271		35	71	0	0	0	0.013114	0	35	71		
LAMA3	3909	broad.mit.edu	37	18	21422437	21422437	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:21422437C>A	ENST00000313654.9	+	28	3656	c.3415C>A	c.(3415-3417)Ccg>Acg	p.P1139T	LAMA3_ENST00000399516.3_Missense_Mutation_p.P1139T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1139	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGCAGCGCACCCGACGTTTCC	0.582																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3415-3417)CCG>ACG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						76.0	80.0	79.0					18																	21422437		2035	4166	6201	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21422437C>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3415C>A	18.37:g.21422437C>A	ENSP00000324532:p.Pro1139Thr					LAMA3_uc002kur.2_Missense_Mutation_p.P1139T	p.P1139T	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			28	3501	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1139			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.3415C>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603294	0.66445	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.18657	2.21;2.2	5.46	5.46	0.80206	.	.	.	.	.	T	0.47432	0.1445	M	0.72624	2.21	0.80722	D	1	P;D	0.89917	0.825;1.0	B;D	0.85130	0.28;0.997	T	0.22452	-1.0216	9	0.30078	T	0.28	.	19.3195	0.94233	0.0:1.0:0.0:0.0	.	1139;1139	Q6VU67;Q16787	.;LAMA3_HUMAN	T	1139;1139;1137	ENSP00000324532:P1139T;ENSP00000382432:P1139T	ENSP00000324532:P1139T	P	+	1	0	LAMA3	19676435	0.982000	0.34865	0.889000	0.34880	0.022000	0.10575	1.931000	0.40134	2.582000	0.87167	0.655000	0.94253	CCG		0.582	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		56	85	1	0	6.07242e-22	0.01441	6.54024e-22	56	85		
LAMA3	3909	broad.mit.edu	37	18	21479343	21479343	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:21479343G>A	ENST00000313654.9	+	47	6169	c.5928G>A	c.(5926-5928)atG>atA	p.M1976I	LAMA3_ENST00000269217.6_Missense_Mutation_p.M367I|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Intron|LAMA3_ENST00000399516.3_Intron	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1976	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCCAGCGCATGATGAGGGAAC	0.493																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(5926-5928)ATG>ATA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						70.0	65.0	67.0					18																	21479343		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21479343G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5928G>A	18.37:g.21479343G>A	ENSP00000324532:p.Met1976Ile					LAMA3_uc002kur.2_Intron|LAMA3_uc002kus.3_Missense_Mutation_p.M367I|LAMA3_uc002kut.3_Intron	p.M1976I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			47	6014	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1976			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.5928G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963577	0.53507	.	.	ENSG00000053747	ENST00000313654;ENST00000269217	T;T	0.11169	2.8;2.8	5.91	5.05	0.67936	Laminin I (1);	.	.	.	.	T	0.27241	0.0668	M	0.78637	2.42	0.80722	D	1	P;D	0.52996	0.891;0.957	P;P	0.54026	0.596;0.74	T	0.02829	-1.1105	9	0.46703	T	0.11	.	15.0091	0.71536	0.068:0.0:0.932:0.0	.	367;1976	B0YJ33;Q16787	.;LAMA3_HUMAN	I	1976;367	ENSP00000324532:M1976I;ENSP00000269217:M367I	ENSP00000269217:M367I	M	+	3	0	LAMA3	19733341	1.000000	0.71417	0.997000	0.53966	0.086000	0.17979	5.044000	0.64214	1.524000	0.49035	0.650000	0.86243	ATG		0.493	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		16	59	0	0	0	0.008871	0	16	59		
DSG1	1828	broad.mit.edu	37	18	28916515	28916515	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:28916515G>A	ENST00000257192.4	+	9	1416	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	402	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGGATCAAATGATAAAGTGGG	0.383																																						uc002kwp.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1204-1206)GAT>AAT		desmoglein 1 preproprotein							89.0	82.0	84.0					18																	28916515		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28916515G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1204G>A	18.37:g.28916515G>A	ENSP00000257192:p.Asp402Asn						p.D402N	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		9	1416	+			402			Extracellular (Potential).|Cadherin 4.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1204G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320438	0.23994	.	.	ENSG00000134760	ENST00000257192	T	0.60797	0.16	5.57	-3.29	0.05017	Cadherin (2);Cadherin-like (1);	0.966394	0.08523	N	0.933061	T	0.35219	0.0924	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.17098	0.017	T	0.24764	-1.0151	10	0.15066	T	0.55	.	5.8605	0.18745	0.0:0.2269:0.2337:0.5393	.	402	Q02413	DSG1_HUMAN	N	402	ENSP00000257192:D402N	ENSP00000257192:D402N	D	+	1	0	DSG1	27170513	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.325000	0.07976	-0.426000	0.07360	-1.219000	0.01604	GAT		0.383	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		NM_001942		12	43	0	0	0	0.001855	0	12	43		
EPG5	57724	broad.mit.edu	37	18	43450624	43450624	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:43450624C>T	ENST00000282041.5	-	36	6167	c.6133G>A	c.(6133-6135)Gag>Aag	p.E2045K	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2045					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGAATGAACTCTGGCATTTTG	0.488																																						uc002lbm.2		NaN																	0					0						c.(6133-6135)GAG>AAG		hypothetical protein LOC57724							112.0	112.0	112.0					18																	43450624		1978	4172	6150	SO:0001583	missense	57724				autophagy			g.chr18:43450624C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6133G>A	18.37:g.43450624C>T	ENSP00000282041:p.Glu2045Lys					KIAA1632_uc010xcq.1_Missense_Mutation_p.E599K|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.E920K	p.E2045K	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			36	6233	-			2045					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.6133G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	33	5.288623	0.95517	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10763	2.84	6.03	6.03	0.97812	.	.	.	.	.	T	0.34308	0.0893	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00274	-1.1857	9	0.56958	D	0.05	-16.889	20.5568	0.99304	0.0:1.0:0.0:0.0	.	2045	Q9HCE0	EPG5_HUMAN	K	2045;920	ENSP00000282041:E2045K	ENSP00000282041:E2045K	E	-	1	0	EPG5	41704622	1.000000	0.71417	0.993000	0.49108	0.661000	0.39034	7.203000	0.77864	2.861000	0.98227	0.655000	0.94253	GAG		0.488	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		NM_020964		16	39	0	0	0	0.006122	0	16	39		
ZNF407	55628	broad.mit.edu	37	18	72775115	72775115	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:72775115C>T	ENST00000299687.5	+	8	5438	c.5438C>T	c.(5437-5439)tCc>tTc	p.S1813F		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1813					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S1813C(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCATTGTTTCCAAGTCGTAC	0.557																																						uc002llw.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5437-5439)TCC>TTC		zinc finger protein 407 isoform 1							73.0	82.0	79.0					18																	72775115		2084	4197	6281	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775115C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5438C>T	18.37:g.72775115C>T	ENSP00000299687:p.Ser1813Phe						p.S1813F	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5495	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1813					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.5438C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299482	0.81136	.	.	ENSG00000215421	ENST00000299687	T	0.11821	2.74	4.97	4.97	0.65823	.	.	.	.	.	T	0.28599	0.0708	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02505	-1.1149	9	0.72032	D	0.01	.	16.4342	0.83869	0.0:1.0:0.0:0.0	.	1813	Q9C0G0	ZN407_HUMAN	F	1813	ENSP00000299687:S1813F	ENSP00000299687:S1813F	S	+	2	0	ZNF407	70904103	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.235000	0.78143	1.090000	0.41315	-0.140000	0.14226	TCC		0.557	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757		53	88	0	0	0	0.01441	0	53	88		
ZNF516	9658	broad.mit.edu	37	18	74091492	74091492	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:74091492C>G	ENST00000443185.2	-	4	2895	c.2578G>C	c.(2578-2580)Gcc>Ccc	p.A860P	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	860					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGCTAGCGGCTTTTGTGACC	0.617																																						uc010dqx.1		NaN																	0				ovary(1)	1						c.(2578-2580)GCC>CCC		zinc finger protein 516							67.0	82.0	77.0					18																	74091492		1935	4131	6066	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091492C>G	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2578G>C	18.37:g.74091492C>G	ENSP00000394757:p.Ala860Pro					ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	p.A860P	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	2813	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	860						Missense_Mutation	SNP	ENST00000443185.2	37	c.2578G>C		.	.	.	.	.	.	.	.	.	.	C	10.61	1.397192	0.25205	.	.	ENSG00000101493	ENST00000443185	T	0.09817	2.94	4.16	3.21	0.36854	.	1.547880	0.03544	N	0.224446	T	0.09291	0.0229	.	.	.	0.09310	N	0.999997	B	0.18461	0.028	B	0.15052	0.012	T	0.12116	-1.0560	9	0.46703	T	0.11	-24.0991	6.8712	0.24121	0.1909:0.5301:0.279:0.0	.	860	Q92618	ZN516_HUMAN	P	860	ENSP00000394757:A860P	ENSP00000394757:A860P	A	-	1	0	ZNF516	72220480	0.805000	0.28982	0.080000	0.20451	0.068000	0.16541	0.557000	0.23454	2.325000	0.78763	0.561000	0.74099	GCC		0.617	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding			NM_014643		22	140	0	0	0	0.00333	0	22	140		
ATP8B3	148229	broad.mit.edu	37	19	1784889	1784889	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:1784889C>T	ENST00000310127.6	-	28	3827	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	ATP8B3_ENST00000525591.1_Missense_Mutation_p.V1160M|ATP8B3_ENST00000539485.1_Missense_Mutation_p.V1207M	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1197					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TTTATGGACACACTCAGCAGG	0.637																																						uc002ltw.2		NaN																	0					0						c.(3589-3591)GTG>ATG		ATPase, class I, type 8B, member 3							69.0	74.0	72.0					19																	1784889		2183	4275	6458	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1784889C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3589G>A	19.37:g.1784889C>T	ENSP00000311336:p.Val1197Met					ATP8B3_uc002ltv.2_Missense_Mutation_p.V1160M|ATP8B3_uc002ltx.2_RNA	p.V1197M	NM_138813	NP_620168	O60423	AT8B3_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)	28	3823	-		Hepatocellular(1079;0.137)	1197			Helical; (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3589G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365505	0.41902	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.60920	0.15;0.15;0.15	4.72	2.57	0.30868	.	0.396623	0.25701	N	0.028868	T	0.65790	0.2725	M	0.67397	2.05	0.09310	N	1	D;D	0.69078	0.997;0.988	D;P	0.63381	0.914;0.85	T	0.55811	-0.8082	10	0.59425	D	0.04	.	5.4119	0.16352	0.0:0.6308:0.1792:0.19	.	1197;1160	O60423;Q7Z485	AT8B3_HUMAN;.	M	1197;1207;1160	ENSP00000311336:V1197M;ENSP00000443574:V1207M;ENSP00000437115:V1160M	ENSP00000311336:V1197M	V	-	1	0	ATP8B3	1735889	0.603000	0.26924	0.009000	0.14445	0.000000	0.00434	1.612000	0.36889	0.420000	0.25954	-0.291000	0.09656	GTG		0.637	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1		NM_138813		6	33	0	0	0	0.006214	0	6	33		
THOP1	7064	broad.mit.edu	37	19	2808407	2808407	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:2808407G>C	ENST00000307741.6	+	9	1623	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000586677.1_Missense_Mutation_p.E353Q	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	474					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CTACTTCCATGAGTTTGGCCA	0.692																																						uc002lwj.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1420-1422)GAG>CAG		thimet oligopeptidase 1							41.0	29.0	33.0					19																	2808407		2198	4298	6496	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2808407G>C		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1420G>C	19.37:g.2808407G>C	ENSP00000304467:p.Glu474Gln					THOP1_uc010xgz.1_Missense_Mutation_p.E353Q|THOP1_uc002lwk.2_5'Flank	p.E474Q	NM_003249	NP_003240	P52888	THOP1_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)	9	1575	+			474				By similarity.	B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.1420G>C	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	g	22.8	4.333469	0.81801	.	.	ENSG00000172009	ENST00000307741	T	0.54479	0.57	4.48	3.41	0.39046	Metallopeptidase, catalytic domain (1);	0.053492	0.64402	D	0.000001	T	0.81545	0.4845	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.977	D	0.87380	0.2356	10	0.87932	D	0	-45.887	11.8311	0.52297	0.0903:0.0:0.9097:0.0	.	353;474	B4DU96;P52888	.;THOP1_HUMAN	Q	474	ENSP00000304467:E474Q	ENSP00000304467:E474Q	E	+	1	0	THOP1	2759407	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	8.946000	0.92992	2.329000	0.79093	0.645000	0.84053	GAG		0.692	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2				7	39	0	0	0	0.004482	0	7	39		
CELF5	60680	broad.mit.edu	37	19	3290311	3290311	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:3290311C>T	ENST00000292672.2	+	11	1306	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	CELF5_ENST00000541430.2_Missense_Mutation_p.R385W	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	423	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TCCTACCCTTCGGCAATATCA	0.577																																						uc002lxm.2		NaN																	0				ovary(2)	2						c.(1267-1269)TTC>TTT		bruno-like 5, RNA binding protein							111.0	100.0	103.0					19																	3290311		2203	4300	6503	SO:0001819	synonymous_variant	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3290311C>T	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1269C>T	19.37:g.3290311C>T						CELF5_uc002lxl.1_Missense_Mutation_p.R410W|CELF5_uc010dtj.1_Missense_Mutation_p.R385W|CELF5_uc010xhg.1_Missense_Mutation_p.R296W|CELF5_uc002lxn.2_RNA	p.F423F	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN			11	1306	+			423			RRM 3.		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Silent	SNP	ENST00000292672.2	37	c.1269C>T	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861721	0.71949	.	.	ENSG00000161082	ENST00000541430;ENST00000334293	T;T	0.29655	1.67;1.56	4.32	3.27	0.37495	.	.	.	.	.	T	0.21761	0.0524	.	.	.	0.34537	D	0.709821	B;B	0.20459	0.005;0.045	B;B	0.13407	0.002;0.009	T	0.28554	-1.0040	8	0.87932	D	0	-14.2197	5.267	0.15605	0.0:0.7114:0.0:0.2886	.	296;385	B4DFI3;Q8N6W0-2	.;.	W	385;296	ENSP00000443498:R385W;ENSP00000335182:R296W	ENSP00000335182:R296W	R	+	1	2	CELF5	3241311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.749000	0.38319	2.130000	0.65690	0.542000	0.68232	CGG		0.577	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1		NM_021938		25	93	0	0	0	0.010818	0	25	93		
CATSPERD	257062	broad.mit.edu	37	19	5719793	5719793	+	5'Flank	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:5719793G>A	ENST00000381624.3	+	0	0				LONP1_ENST00000585374.1_Silent_p.I3I|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000593119.1_Silent_p.I53I|CATSPERD_ENST00000381614.2_5'Flank|LONP1_ENST00000590511.1_5'UTR|LONP1_ENST00000590729.1_Silent_p.I3I|LONP1_ENST00000360614.3_Silent_p.I117I	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ACACATCGGGGATCGTCATGG	0.697																																						uc002mcx.2		NaN																	0					0						c.(349-351)ATC>ATT		mitochondrial lon peptidase 1 precursor							41.0	44.0	43.0					19																	5719793		2203	4300	6503	SO:0001631	upstream_gene_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5719793G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036		19.37:g.5719793G>A	Exception_encountered					TMEM146_uc010duj.1_5'Flank|TMEM146_uc002mda.2_5'Flank|LONP1_uc002mcy.2_Silent_p.I53I|LONP1_uc010duh.2_5'UTR|LONP1_uc010dui.2_Silent_p.I117I|LONP1_uc002mcz.2_Intron	p.I117I	NM_004793	NP_004784	P36776	LONM_HUMAN			1	384	-			117					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.351C>T	CCDS12149.2																																																																																				0.697	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2		NM_152784		42	77	0	0	0	0.009718	0	42	77		
RETN	56729	broad.mit.edu	37	19	7734744	7734744	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:7734744G>A	ENST00000221515.2	+	3	244	c.156G>A	c.(154-156)caG>caA	p.Q52Q	RETN_ENST00000381324.2_Intron	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	52					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						TGGAGTGCCAGAGCGTCACCT	0.612																																						uc002mhf.1		NaN																	0				ovary(1)	1						c.(154-156)CAG>CAA		resistin							60.0	58.0	59.0					19																	7734744		2203	4300	6503	SO:0001819	synonymous_variant	56729						hormone activity	g.chr19:7734744G>A	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.156G>A	19.37:g.7734744G>A						RETN_uc002mhg.1_Silent_p.Q52Q|RETN_uc010dvm.1_Intron	p.Q52Q	NM_020415	NP_065148	Q9HD89	RETN_HUMAN			3	202	+			52					D6W649|Q540D9|Q76B53	Silent	SNP	ENST00000221515.2	37	c.156G>A	CCDS12182.1																																																																																				0.612	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1		NM_020415		28	41	0	0	0	0.004289	0	28	41		
MAP2K7	5609	broad.mit.edu	37	19	7974989	7974989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:7974989C>T	ENST00000397979.3	+	3	362	c.308C>T	c.(307-309)aCg>aTg	p.T103M	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000545011.1_Missense_Mutation_p.T103M|MAP2K7_ENST00000397983.3_Missense_Mutation_p.T119M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.T103M	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	103					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						ATGAAGCAGACGGGCTACCTG	0.647																																						uc002mit.2		NaN																	0				large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11						c.(307-309)ACG>ATG		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						29.0	31.0	31.0					19																	7974989		2003	4168	6171	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7974989C>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.308C>T	19.37:g.7974989C>T	ENSP00000381066:p.Thr103Met					MAP2K7_uc002miv.2_Missense_Mutation_p.T103M|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.T103M|MAP2K7_uc010dvv.2_Translation_Start_Site	p.T103M	NM_145185	NP_660186	O14733	MP2K7_HUMAN			3	373	+			103					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.308C>T	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666936	0.88251	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.71222	-0.45;-0.55;-0.55;-0.55	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.71517	0.3349	L	0.60455	1.87	0.58432	D	0.999999	D;P	0.60575	0.988;0.907	P;B	0.46208	0.507;0.194	T	0.77199	-0.2675	10	0.87932	D	0	-9.1162	15.7224	0.77724	0.0:1.0:0.0:0.0	.	103;103	O14733-4;O14733	.;MP2K7_HUMAN	M	103;119;103;119;103	ENSP00000381068:T103M;ENSP00000381070:T119M;ENSP00000443946:T103M;ENSP00000381066:T103M	ENSP00000381066:T103M	T	+	2	0	MAP2K7	7880989	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	5.460000	0.66691	2.399000	0.81585	0.561000	0.74099	ACG		0.647	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1				7	18	0	0	0	0.006214	0	7	18		
QTRT1	81890	broad.mit.edu	37	19	10818004	10818004	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:10818004G>A	ENST00000250237.5	+	4	488	c.478G>A	c.(478-480)Gac>Aac	p.D160N	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	160					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GCAGCTGGACGACGTGGTTAG	0.572																																						uc002mpr.2		NaN																	0				skin(1)	1						c.(478-480)GAC>AAC		queuine tRNA-ribosyltransferase 1							340.0	252.0	282.0					19																	10818004		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10818004G>A	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.478G>A	19.37:g.10818004G>A	ENSP00000250237:p.Asp160Asn						p.D160N	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		4	503	+			160					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.478G>A	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498212	0.64186	.	.	ENSG00000213339	ENST00000250237;ENST00000421333	.	.	.	4.56	3.51	0.40186	.	0.076826	0.49916	U	0.000136	D	0.86896	0.6043	H	0.97806	4.08	0.49389	D	0.999785	D	0.71674	0.998	D	0.68621	0.959	D	0.90310	0.4336	9	0.87932	D	0	-9.8454	12.1138	0.53854	0.0:0.1729:0.8271:0.0	.	160	Q9BXR0	TGT_HUMAN	N	160	.	ENSP00000250237:D160N	D	+	1	0	QTRT1	10679004	1.000000	0.71417	0.330000	0.25442	0.160000	0.22226	7.022000	0.76431	1.112000	0.41740	0.549000	0.68633	GAC		0.572	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1		NM_031209		39	215	0	0	0	0.01441	0	39	215		
DNM2	1785	broad.mit.edu	37	19	10897350	10897350	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:10897350C>T	ENST00000355667.6	+	7	1040	c.960C>T	c.(958-960)gaC>gaT	p.D320D	DNM2_ENST00000389253.4_Silent_p.D320D|DNM2_ENST00000359692.6_Silent_p.D320D|DNM2_ENST00000585892.1_Silent_p.D320D|DNM2_ENST00000314646.5_Silent_p.D320D|DNM2_ENST00000408974.4_Silent_p.D320D	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	320					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TTCGGCCCGACGACCCCACCC	0.637			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NaN		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(958-960)GAC>GAT		dynamin 2 isoform 2							107.0	91.0	97.0					19																	10897350		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10897350C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.960C>T	19.37:g.10897350C>T						DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.D320D|DNM2_uc002mpv.1_Silent_p.D320D|DNM2_uc002mpu.1_Silent_p.D320D|DNM2_uc010dxl.1_Silent_p.D320D|DNM2_uc002mpw.2_Silent_p.D53D	p.D320D	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		7	1124	+			320					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.960C>T	CCDS45968.1																																																																																				0.637	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1		NM_004945		21	27	0	0	0	0.012319	0	21	27		
KANK2	25959	broad.mit.edu	37	19	11287304	11287304	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:11287304G>A	ENST00000586659.1	-	7	2024	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	KANK2_ENST00000355150.5_Silent_p.H570H|KANK2_ENST00000589894.1_Silent_p.H570H|KANK2_ENST00000432929.2_Silent_p.H578H|KANK2_ENST00000589359.1_Silent_p.H578H			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	570					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTGGGTATGTGCTGAGATT	0.632																																						uc010dxv.2		NaN																	0					0						c.(1708-1710)CAC>CAT		ankyrin repeat domain 25 isoform 1							129.0	123.0	125.0					19																	11287304		2203	4300	6503	SO:0001819	synonymous_variant	25959							g.chr19:11287304G>A	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1710C>T	19.37:g.11287304G>A						KANK2_uc002mqm.2_Silent_p.H578H|KANK2_uc002mqo.3_Silent_p.H570H|KANK2_uc002mqp.1_Silent_p.H379H	p.H570H	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN			9	2268	-			570					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.1710C>T	CCDS12255.1																																																																																				0.632	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2		NM_015493		70	244	0	0	0	0.01441	0	70	244		
DOCK6	57572	broad.mit.edu	37	19	11332547	11332548	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:11332547_11332548GG>AT	ENST00000294618.7	-	28	3540_3541	c.3529_3530CC>AT	c.(3529-3531)CCa>ATa	p.P1177I	DOCK6_ENST00000319867.7_Missense_Mutation_p.P516I	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1177					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATGCAGCCGTGGCAAGGTATCC	0.584																																						uc002mqs.3		NaN																	0				ovary(2)|skin(1)	3						c.(3529-3531)CCA>ATA		dedicator of cytokinesis 6																																				SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11332547_11332548GG>AT		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3529_3530delinsAT	19.37:g.11332547_11332548delinsAT	ENSP00000294618:p.Pro1177Ile					DOCK6_uc010xlq.1_Missense_Mutation_p.P516I	p.P1177I	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			28	3570_3571	-			1177					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	DNP	ENST00000294618.7	37	c.3529_3530CC>AT	CCDS45975.1																																																																																				0.584	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1		NM_020812		92	204	0	0	0	0.004672	0	92	204		
ZNF823	55552	broad.mit.edu	37	19	11832850	11832850	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:11832850T>G	ENST00000341191.6	-	4	1652	c.1499A>C	c.(1498-1500)gAg>gCg	p.E500A	ZNF823_ENST00000545749.1_Missense_Mutation_p.E318A	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	500					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(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TGTTTTACACTCATAAGGTTT	0.378										HNSCC(68;0.2)																												uc002msm.2		NaN																	0				ovary(2)	2						c.(1498-1500)GAG>GCG		ZFP-36 for a zinc finger protein							71.0	80.0	77.0					19																	11832850		2182	4291	6473	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832850T>G	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1499A>C	19.37:g.11832850T>G	ENSP00000340683:p.Glu500Ala	HNSCC(68;0.2)				ZNF823_uc010xmd.1_Missense_Mutation_p.E318A|ZNF823_uc010dyi.1_Missense_Mutation_p.E456A	p.E500A	NM_001080493	NP_001073962	P16415	ZN823_HUMAN			4	1625	-			500			C2H2-type 13.		A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.1499A>C	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	N	15.28	2.785276	0.49997	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.21932	1.98;1.98;1.98	0.931	0.931	0.19460	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10508	0.0257	N	0.05510	-0.035	0.09310	N	1	P	0.48834	0.916	P	0.44990	0.466	T	0.12372	-1.0550	9	0.56958	D	0.05	.	2.1425	0.03778	0.0:0.2319:0.3347:0.4334	.	500	P16415	ZN823_HUMAN	A	318;500;456	ENSP00000440162:E318A;ENSP00000340683:E500A;ENSP00000410654:E456A	ENSP00000340683:E500A	E	-	2	0	ZNF823	11693850	0.000000	0.05858	0.003000	0.11579	0.826000	0.46750	-0.512000	0.06313	0.649000	0.30751	0.254000	0.18369	GAG		0.378	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2		NM_001080493		22	28	0	0	0	0.014323	0	22	28		
BRD4	23476	broad.mit.edu	37	19	15355563	15355563	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:15355563C>T	ENST00000263377.2	-	12	2390	c.2169G>A	c.(2167-2169)ccG>ccA	p.P723P		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	723					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.P723P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTTTTGACTTCGGAGCCATCT	0.567			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2		NaN		Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)	2						c.(2167-2169)CCG>CCA		bromodomain-containing protein 4 isoform long							113.0	112.0	113.0					19																	15355563		2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15355563C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2169G>A	19.37:g.15355563C>T							p.P723P	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		12	2391	-			723					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.2169G>A	CCDS12328.1																																																																																				0.567	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3		NM_058243		34	172	0	0	0	0.00623	0	34	172		
ANO8	57719	broad.mit.edu	37	19	17440802	17440802	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:17440802G>C	ENST00000159087.4	-	11	1453	c.1295C>G	c.(1294-1296)gCc>gGc	p.A432G		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	432	Leu-rich.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTTCTCATAGGCGCTCTCCAG	0.627																																						uc002ngf.2		NaN																	0				ovary(3)	3						c.(1294-1296)GCC>GGC		anoctamin 8							57.0	59.0	58.0					19																	17440802		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17440802G>C	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.1295C>G	19.37:g.17440802G>C	ENSP00000159087:p.Ala432Gly					ANO8_uc010eap.2_RNA	p.A432G	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			11	1454	-			432			Extracellular (Potential).|Leu-rich.		A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.1295C>G	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787819	0.90367	.	.	ENSG00000074855	ENST00000159087	T	0.65916	-0.18	4.34	4.34	0.51931	.	0.264500	0.36482	N	0.002577	T	0.73289	0.3568	M	0.61703	1.905	0.33907	D	0.639223	D	0.53151	0.958	P	0.61940	0.896	T	0.80181	-0.1489	10	0.39692	T	0.17	.	14.7122	0.69241	0.0:0.0:1.0:0.0	.	432	Q9HCE9	ANO8_HUMAN	G	432	ENSP00000159087:A432G	ENSP00000159087:A432G	A	-	2	0	ANO8	17301802	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.597000	0.90847	2.143000	0.66587	0.491000	0.48974	GCC		0.627	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1		XM_050644		30	122	0	0	0	0.012213	0	30	122		
ZNF536	9745	broad.mit.edu	37	19	31040309	31040309	+	Silent	SNP	G	G	A	rs139373364		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:31040309G>A	ENST00000355537.3	+	4	3930	c.3783G>A	c.(3781-3783)ccG>ccA	p.P1261P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1261					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGGACAAGCCGATGAACATGC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		16564	0.0		0.001	False		,,,				2504	0.0					uc002nsu.1		NaN																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3781-3783)CCG>CCA		zinc finger protein 536		G		1,4383		0,1,2191	27.0	27.0	27.0		3783	-5.2	0.3	19	dbSNP_134	27	2,8536		0,2,4267	no	coding-synonymous	ZNF536	NM_014717.1		0,3,6458	AA,AG,GG		0.0234,0.0228,0.0232		1261/1301	31040309	3,12919	2192	4269	6461	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040309G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3783G>A	19.37:g.31040309G>A						ZNF536_uc010edd.1_Silent_p.P1261P	p.P1261P	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3921	+	Esophageal squamous(110;0.0834)		1261					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3783G>A	CCDS32984.1																																																																																				0.597	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		9	27	0	0	0	0.008291	0	9	27		
FFAR2	2867	broad.mit.edu	37	19	35940871	35940871	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:35940871G>A	ENST00000599180.2	+	2	335	c.255G>A	c.(253-255)acG>acA	p.T85T	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.T85T			O15552	FFAR2_HUMAN	free fatty acid receptor 2	85					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCGCCCTCACGAGTTTTGGCT	0.622																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2		NaN																	0				central_nervous_system(1)	1						c.(253-255)ACG>ACA		free fatty acid receptor 2							53.0	44.0	47.0					19																	35940871		2203	4300	6503	SO:0001819	synonymous_variant	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940871G>A	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.255G>A	19.37:g.35940871G>A						FFAR2_uc010eea.2_Silent_p.T85T	p.T85T	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	335	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		85			Helical; Name=3; (Potential).		B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	c.255G>A	CCDS12461.1																																																																																				0.622	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3		NM_005306		13	22	0	0	0	0.00245	0	13	22		
HCST	10870	broad.mit.edu	37	19	36393522	36393522	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:36393522C>T	ENST00000246551.4	+	1	141	c.27C>T	c.(25-27)ttC>ttT	p.F9F	NFKBID_ENST00000606253.1_5'Flank|NFKBID_ENST00000396901.1_5'Flank|HCST_ENST00000437550.2_Silent_p.F9F|NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000352614.2_5'Flank			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	9					positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of immune response (GO:0050776)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase binding (GO:0043548)|receptor binding (GO:0005102)			lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACATCCTCTTCCTGCTTTTGC	0.582																																						uc002ocl.1		NaN																	0					0						c.(25-27)TTC>TTT		hematopoietic cell signal transducer isoform 1							291.0	261.0	271.0					19																	36393522		2203	4300	6503	SO:0001819	synonymous_variant	10870				regulation of immune response	integral to membrane|plasma membrane		g.chr19:36393522C>T	AF072844	CCDS32998.1, CCDS46057.1	19q13.1	2009-05-07	2003-10-14	2003-10-15	ENSG00000126264	ENSG00000126264			16977	protein-coding gene	gene with protein product	"""DNAX-activation protein 10"", ""kinase assoc pro of ~10kDa"""	604089	"""phosphoinositide-3-kinase adaptor protein"""	PIK3AP		10426994	Standard	NM_014266		Approved	DAP10, DKFZP586C1522, KAP10	uc002ocl.1	Q9UBK5	OTTHUMG00000048132	ENST00000246551.4:c.27C>T	19.37:g.36393522C>T						NFKBID_uc002oci.1_5'Flank|NFKBID_uc002ocj.1_5'Flank|HCST_uc002ock.1_Silent_p.F9F	p.F9F	NM_014266	NP_055081	Q9UBK5	HCST_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	141	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		9					Q9UBS1|Q9Y3Y0	Silent	SNP	ENST00000246551.4	37	c.27C>T	CCDS32998.1																																																																																				0.582	HCST-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109520.3		NM_014266		174	213	0	0	0	0.01441	0	174	213		
GRIK5	2901	broad.mit.edu	37	19	42558025	42558025	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:42558025G>A	ENST00000262895.3	-	9	1112	c.1113C>T	c.(1111-1113)acC>acT	p.T371T	GRIK5_ENST00000301218.4_Silent_p.T371T|GRIK5_ENST00000593562.1_Silent_p.T371T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	371					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GGGTGTAGTTGGTTCTCTGCC	0.662																																						uc002osj.1		NaN																	0					0						c.(1111-1113)ACC>ACT		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						83.0	71.0	75.0					19																	42558025		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42558025G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1113C>T	19.37:g.42558025G>A						GRIK5_uc010eib.1_Silent_p.T290T	p.T371T	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			9	1148	-		Prostate(69;0.059)	371			Extracellular (Potential).		Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.1113C>T	CCDS12595.1																																																																																				0.662	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1				22	51	0	0	0	0.005443	0	22	51		
CEACAM8	1088	broad.mit.edu	37	19	43093837	43093837	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:43093837C>T	ENST00000244336.5	-	3	576	c.475G>A	c.(475-477)Gac>Aac	p.D159N	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	159	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GCATCCTTGTCCTCCACGGGG	0.552																																						uc002oud.2		NaN																	0				ovary(1)	1						c.(475-477)GAC>AAC		carcinoembryonic antigen-related cell adhesion							179.0	164.0	169.0					19																	43093837		2203	4298	6501	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43093837C>T	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.475G>A	19.37:g.43093837C>T	ENSP00000244336:p.Asp159Asn					uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	p.D159N	NM_001816	NP_001807	P31997	CEAM8_HUMAN			3	577	-		Prostate(69;0.00899)	159			Ig-like C2-type 1.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.475G>A	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	0.045	-1.267825	0.01433	.	.	ENSG00000124469	ENST00000244336	T	0.41400	1.0	2.7	-5.41	0.02648	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18257	0.0438	N	0.05280	-0.08	0.09310	N	1	B	0.15930	0.015	B	0.32724	0.151	T	0.38134	-0.9675	9	0.15952	T	0.53	.	4.736	0.12988	0.0:0.4111:0.206:0.3829	.	159	P31997	CEAM8_HUMAN	N	159	ENSP00000244336:D159N	ENSP00000244336:D159N	D	-	1	0	CEACAM8	47785677	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.761000	0.04751	-0.851000	0.04147	-0.657000	0.03884	GAC		0.552	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1				86	214	0	0	0	0.01441	0	86	214		
ERCC2	2068	broad.mit.edu	37	19	45860556	45860556	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:45860556G>A	ENST00000391945.4	-	15	1528	c.1451C>T	c.(1450-1452)aCg>aTg	p.T484M	ERCC2_ENST00000391944.3_Missense_Mutation_p.T406M	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	484	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGTGCCAGCGTCATGGTGAA	0.652			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(1450-1452)ACG>ATG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							92.0	77.0	82.0					19																	45860556		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45860556G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1451C>T	19.37:g.45860556G>A	ENSP00000375809:p.Thr484Met					ERCC2_uc002pbh.2_Missense_Mutation_p.T47M|ERCC2_uc002pbi.2_Missense_Mutation_p.T177M|ERCC2_uc010ejz.2_Missense_Mutation_p.T406M|ERCC2_uc002pbk.2_Missense_Mutation_p.T460M	p.T484M	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	15	1498	-		Ovarian(192;0.0728)|all_neural(266;0.112)	484			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1451C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497906	0.85069	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;D	0.82893	-1.44;-1.66	5.27	5.27	0.74061	.	0.108809	0.64402	D	0.000008	D	0.92532	0.7628	M	0.93939	3.475	0.80722	D	1	D;D;D	0.76494	0.991;0.995;0.999	P;P;D	0.64776	0.902;0.794;0.929	D	0.94171	0.7423	10	0.87932	D	0	-20.816	14.3789	0.66897	0.0:0.0:1.0:0.0	.	406;484;177	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	M	434;460;484;406	ENSP00000375809:T484M;ENSP00000375808:T406M	ENSP00000375805:T434M	T	-	2	0	ERCC2	50552396	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	8.255000	0.89846	2.461000	0.83175	0.655000	0.94253	ACG		0.652	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		27	50	0	0	0	0.010818	0	27	50		
SLC8A2	6543	broad.mit.edu	37	19	47933517	47933517	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:47933517G>A	ENST00000236877.6	-	10	2990	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F	SLC8A2_ENST00000539381.1_Silent_p.F328F|SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000542837.1_Silent_p.F621F	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	865					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCACGAAGGCGAAGACGGTGA	0.726																																						uc002pgx.2		NaN																	0				skin(3)|ovary(1)	4						c.(2593-2595)TTC>TTT		solute carrier family 8 member 2 precursor							34.0	26.0	29.0					19																	47933517		2189	4291	6480	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47933517G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2595C>T	19.37:g.47933517G>A						SLC8A2_uc010xyq.1_Silent_p.F621F|SLC8A2_uc010xyr.1_Silent_p.F328F|SLC8A2_uc010ele.2_Missense_Mutation_p.R892C	p.F865F	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	10	2873	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	865			Helical; (Potential).		B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.2595C>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730036	0.30684	.	.	ENSG00000118160	ENST00000391903	.	.	.	4.15	3.11	0.35812	.	.	.	.	.	T	0.47266	0.1436	.	.	.	0.80722	D	1	B	0.22211	0.066	B	0.11329	0.006	T	0.54262	-0.8320	7	0.87932	D	0	.	11.6462	0.51263	0.0962:0.0:0.9038:0.0	.	720	E9PGS7	.	C	720	.	ENSP00000375772:R720C	R	-	1	0	SLC8A2	52625329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.595000	0.24029	2.350000	0.79820	0.456000	0.33151	CGC		0.726	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1				7	23	0	0	0	0.00308	0	7	23		
EHD2	30846	broad.mit.edu	37	19	48229178	48229178	+	Silent	SNP	C	C	T	rs202143335		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:48229178C>T	ENST00000263277.3	+	4	863	c.612C>T	c.(610-612)atC>atT	p.I204I	EHD2_ENST00000538399.1_Silent_p.I68I|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	204	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CAGAGGCCATCGGCGCGTTGC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17425	0.001		0.0	False		,,,				2504	0.0					uc002phj.3		NaN																	0				ovary(1)|skin(1)	2						c.(610-612)ATC>ATT		EH-domain containing 2							49.0	39.0	42.0					19																	48229178		2203	4300	6503	SO:0001819	synonymous_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48229178C>T	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.612C>T	19.37:g.48229178C>T						EHD2_uc010xyu.1_Silent_p.I68I|EHD2_uc010xyv.1_5'Flank	p.I204I	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	4	862	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	204					B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	c.612C>T	CCDS12704.1																																																																																				0.637	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1				19	32	0	0	0	0.012319	0	19	32		
RASIP1	54922	broad.mit.edu	37	19	49238513	49238513	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:49238513G>A	ENST00000222145.4	-	4	1323	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	373					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGGCCTGGATGAGGCACTGAG	0.667																																						uc002pki.2		NaN																	0				pancreas(1)	1						c.(1117-1119)CTC>CTT		Ras-interacting protein 1							38.0	42.0	40.0					19																	49238513		2203	4300	6503	SO:0001819	synonymous_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49238513G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1119C>T	19.37:g.49238513G>A							p.L373L	NM_017805	NP_060275	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	4	1316	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	373					Q6U676	Silent	SNP	ENST00000222145.4	37	c.1119C>T	CCDS12731.1																																																																																				0.667	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1		NM_017805		19	59	0	0	0	0.004656	0	19	59		
PPP1R15A	23645	broad.mit.edu	37	19	49379181	49379181	+	Missense_Mutation	SNP	C	C	T	rs386810065		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:49379181C>T	ENST00000200453.5	+	3	2245	c.1976C>T	c.(1975-1977)tCg>tTg	p.S659L		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	659					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCTTCCCGCTCGTCTGCTGCT	0.567																																						uc002pky.3		NaN																	0				lung(1)	1						c.(1975-1977)TCG>TTG		protein phosphatase 1, regulatory subunit 15A							72.0	73.0	73.0					19																	49379181		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49379181C>T	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1976C>T	19.37:g.49379181C>T	ENSP00000200453:p.Ser659Leu						p.S659L	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	3	2245	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	659					B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1976C>T	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	4.610	0.113352	0.08831	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05025	3.51	3.96	-1.02	0.10135	.	1.934510	0.02605	N	0.101454	T	0.04407	0.0121	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.41998	-0.9477	10	0.72032	D	0.01	3.183	3.5392	0.07804	0.0:0.4113:0.1958:0.3929	.	659	O75807	PR15A_HUMAN	L	659;499;617	ENSP00000200453:S659L	ENSP00000200453:S659L	S	+	2	0	PPP1R15A	54070993	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.160000	0.16462	-0.080000	0.12685	0.609000	0.83330	TCG		0.567	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1		NM_014330		82	169	0	0	0	0.01441	0	82	169		
GYS1	2997	broad.mit.edu	37	19	49473902	49473902	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:49473902G>T	ENST00000323798.3	-	14	1906	c.1710C>A	c.(1708-1710)ttC>ttA	p.F570L	GYS1_ENST00000541188.1_Missense_Mutation_p.F490L|GYS1_ENST00000263276.6_Missense_Mutation_p.F506L|GYS1_ENST00000544287.1_Missense_Mutation_p.F203L	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	570					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		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;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AACTGTAGAGGAAGGAGGTGA	0.592											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002plp.2		NaN																	0				ovary(2)	2						c.(1708-1710)TTC>TTA		glycogen synthase 1 (muscle) isoform 1							45.0	48.0	47.0					19																	49473902		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49473902G>T		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1710C>A	19.37:g.49473902G>T	ENSP00000317904:p.Phe570Leu		OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962	GYS1_uc010xzy.1_Missense_Mutation_p.F203L|GYS1_uc010emm.2_Missense_Mutation_p.F506L|GYS1_uc010xzz.1_Missense_Mutation_p.F490L	p.F570L	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	14	1951	-		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)	570					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.1710C>A	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488411	0.84854	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	L	0.46614	1.455	0.80722	D	1	B;B;B	0.24618	0.053;0.017;0.107	B;B;B	0.27262	0.058;0.034;0.078	T	0.54669	-0.8259	10	0.36615	T	0.2	-31.8047	16.5789	0.84708	0.0:0.0:1.0:0.0	.	490;506;570	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	L	570;506;490;203	ENSP00000317904:F570L;ENSP00000263276:F506L;ENSP00000437922:F490L;ENSP00000444004:F203L	ENSP00000263276:F506L	F	-	3	2	GYS1	54165714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.301000	0.72782	2.610000	0.88304	0.561000	0.74099	TTC		0.592	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1		NM_002103		17	58	1	0	2.35188e-11	0.006122	2.47329e-11	17	58		
HRC	3270	broad.mit.edu	37	19	49658061	49658061	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:49658061G>C	ENST00000252825.4	-	1	620	c.434C>G	c.(433-435)tCa>tGa	p.S145*	TRPM4_ENST00000252826.5_5'Flank|HRC_ENST00000595625.1_Nonsense_Mutation_p.S145*	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	145	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTGCTCAGCTGAGTCTTCCGT	0.582																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NaN																	0				ovary(1)	1						c.(433-435)TCA>TGA		histidine rich calcium binding protein							189.0	135.0	153.0					19																	49658061		2203	4300	6503	SO:0001587	stop_gained	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658061G>C		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.434C>G	19.37:g.49658061G>C	ENSP00000252825:p.Ser145*					TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	p.S145*	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	621	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	145			4 X tandem repeats, acidic.|6 X approximate tandem repeats.|2-2.		Q504Y6	Nonsense_Mutation	SNP	ENST00000252825.4	37	c.434C>G	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136417	0.77662	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	.	.	.	2.45	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-0.0298	3.5347	0.07790	0.1579:0.2702:0.5719:0.0	.	.	.	.	X	145;115	.	ENSP00000252825:S145X	S	-	2	0	HRC	54349873	0.014000	0.17966	0.005000	0.12908	0.030000	0.12068	1.074000	0.30703	0.588000	0.29660	0.462000	0.41574	TCA		0.582	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1		NM_002152		44	110	0	0	0	0.00874	0	44	110		
KLK2	3817	broad.mit.edu	37	19	51381756	51381756	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:51381756T>C	ENST00000325321.3	+	5	952	c.727T>C	c.(727-729)Tac>Cac	p.Y243H	KLK2_ENST00000391810.2_Missense_Mutation_p.Y141H|KLK2_ENST00000358049.4_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	243	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GCCTGCTGTGTACACCAAGGT	0.537			T	ETV4	prostate																																	uc002ptv.2		NaN		Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate		0				ovary(1)|skin(1)	2						c.(727-729)TAC>CAC		kallikrein 2, prostatic isoform 1							206.0	195.0	199.0					19																	51381756		2203	4300	6503	SO:0001583	missense	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51381756T>C	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.727T>C	19.37:g.51381756T>C	ENSP00000313581:p.Tyr243His					KLK2_uc002ptu.2_3'UTR|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.Y226H|KLK2_uc010ycm.1_Missense_Mutation_p.Y141H|KLK2_uc010eoh.2_Missense_Mutation_p.Y141H	p.Y243H	NM_005551	NP_005542	P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	5	768	+		all_neural(266;0.026)	243			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	c.727T>C	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.555701	0.65425	.	.	ENSG00000167751	ENST00000325321;ENST00000391810	T;T	0.10668	2.85;2.85	3.54	3.54	0.40534	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.764942	0.10739	N	0.639650	T	0.39462	0.1079	M	0.90309	3.105	0.24941	N	0.991852	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.13737	-1.0498	10	0.87932	D	0	.	10.3389	0.43866	0.0:0.0:0.0:1.0	.	226;243	B4DU77;P20151	.;KLK2_HUMAN	H	243;141	ENSP00000313581:Y243H;ENSP00000375686:Y141H	ENSP00000313581:Y243H	Y	+	1	0	KLK2	56073568	1.000000	0.71417	0.008000	0.14137	0.002000	0.02628	6.127000	0.71642	1.372000	0.46190	0.460000	0.39030	TAC		0.537	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3		NM_005551.3		124	266	0	0	0	0.01441	0	124	266		
KLK8	11202	broad.mit.edu	37	19	51499316	51499316	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:51499316C>T	ENST00000600767.1	-	7	1271	c.782G>A	c.(781-783)tGa>tAa	p.*261*	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000347619.4_Silent_p.*120*|KLK8_ENST00000391806.2_Silent_p.*306*|KLK8_ENST00000598195.1_5'Flank|KLK8_ENST00000291726.7_Silent_p.*261*			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	0					cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ATCCTAGAATCAGCCCTTGCT	0.537																																						uc002pur.1		NaN																	0				central_nervous_system(1)	1						c.(781-783)TGA>TAA		kallikrein 8 isoform 1 preproprotein							215.0	200.0	205.0					19																	51499316		2203	4300	6503	SO:0001819	synonymous_variant	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51499316C>T	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.782G>A	19.37:g.51499316C>T						KLK8_uc002puq.1_Silent_p.*306*|KLK8_uc002pus.1_Silent_p.*120*|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Silent_p.*261*|KLK9_uc002puv.1_RNA	p.*261*	NM_007196	NP_009127	O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	6	961	-		all_neural(266;0.026)	261					Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Silent	SNP	ENST00000600767.1	37	c.782G>A	CCDS12813.1																																																																																				0.537	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2		NM_007196		100	245	0	0	0	0.01441	0	100	245		
ZNF160	90338	broad.mit.edu	37	19	53572357	53572357	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:53572357C>T	ENST00000429604.1	-	7	1845	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	ZNF160_ENST00000599056.1_Missense_Mutation_p.G477E|ZNF160_ENST00000601421.1_Missense_Mutation_p.G441E|ZNF160_ENST00000418871.1_Missense_Mutation_p.G477E	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	477					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGGTTTTGTTCCAGTATGGAT	0.398																																						uc010eqk.2		NaN																	0				central_nervous_system(1)	1						c.(1429-1431)GGA>GAA		zinc finger protein 160							154.0	151.0	152.0					19																	53572357		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572357C>T	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1430G>A	19.37:g.53572357C>T	ENSP00000406201:p.Gly477Glu					ZNF160_uc002qaq.3_Missense_Mutation_p.G477E|ZNF160_uc002qar.3_Missense_Mutation_p.G477E	p.G477E	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	7	1846	-			477					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.1430G>A	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781930	0.49891	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.25749	1.78;1.78	2.57	2.57	0.30868	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40473	0.1118	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.30504	-0.9976	9	0.59425	D	0.04	.	12.2478	0.54581	0.0:1.0:0.0:0.0	.	477	Q9HCG1	ZN160_HUMAN	E	477	ENSP00000406201:G477E;ENSP00000409597:G477E	ENSP00000409597:G477E	G	-	2	0	ZNF160	58264169	0.000000	0.05858	0.040000	0.18447	0.014000	0.08584	0.573000	0.23699	1.422000	0.47177	0.561000	0.74099	GGA		0.398	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2		NM_033288		36	84	0	0	0	0.009718	0	36	84		
LILRA2	11027	broad.mit.edu	37	19	55087422	55087422	+	Silent	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:55087422G>T	ENST00000251377.3	+	7	1234	c.1101G>T	c.(1099-1101)ctG>ctT	p.L367L	LILRA2_ENST00000251376.3_Silent_p.L367L|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.L355L|LILRA2_ENST00000391738.3_Silent_p.L367L|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	367	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CACTGCATCTGAGATCAGAGC	0.587																																						uc002qgg.3		NaN																	0				ovary(1)	1						c.(1099-1101)CTG>CTT		leukocyte immunoglobulin-like receptor,							109.0	91.0	97.0					19																	55087422		2203	4300	6503	SO:0001819	synonymous_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55087422G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1101G>T	19.37:g.55087422G>T						LILRA2_uc010ern.2_Silent_p.L367L|LILRA2_uc002qgf.2_Silent_p.L367L|LILRA2_uc010yfe.1_Silent_p.L367L|LILRA2_uc010yff.1_Silent_p.L355L|LILRA2_uc010ero.2_Silent_p.L355L|LILRA2_uc010yfg.1_Intron	p.L367L	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	6	1190	+			367			Ig-like C2-type 4.|Extracellular (Potential).		O75020	Silent	SNP	ENST00000251377.3	37	c.1101G>T	CCDS46179.1																																																																																				0.587	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2				19	122	1	0	1.15919e-05	0.008871	1.19092e-05	19	122		
NLRP4	147945	broad.mit.edu	37	19	56369129	56369129	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:56369129G>A	ENST00000301295.6	+	3	792	c.370G>A	c.(370-372)Gag>Aag	p.E124K	NLRP4_ENST00000587891.1_Missense_Mutation_p.E49K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E124K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	124					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCTATACTTTGAGGAGGAAGT	0.473																																						uc002qmd.3		NaN																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(370-372)GAG>AAG		NLR family, pyrin domain containing 4							138.0	129.0	132.0					19																	56369129		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369129G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.370G>A	19.37:g.56369129G>A	ENSP00000301295:p.Glu124Lys					NLRP4_uc002qmf.2_Missense_Mutation_p.E49K|NLRP4_uc010etf.2_5'UTR	p.E124K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	792	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	124					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.370G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	0.305	-0.971716	0.02215	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.81078	-1.45;-1.45	3.62	-7.25	0.01470	.	.	.	.	.	T	0.48607	0.1509	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.35375	-0.9791	9	0.24483	T	0.36	.	1.6959	0.02862	0.281:0.2757:0.3246:0.1187	.	49;124	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	K	124	ENSP00000301295:E124K;ENSP00000344787:E124K	ENSP00000301295:E124K	E	+	1	0	NLRP4	61060941	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.840000	0.01684	-1.266000	0.02446	-1.014000	0.02459	GAG		0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444		34	69	0	0	0	0.009718	0	34	69		
NLRP5	126206	broad.mit.edu	37	19	56538546	56538546	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:56538546T>A	ENST00000390649.3	+	7	947	c.947T>A	c.(946-948)gTc>gAc	p.V316D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	316	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCTCCTACGTCTTCTTCCTC	0.567																																						uc002qmj.2		NaN																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(946-948)GTC>GAC		NACHT, LRR and PYD containing protein 5							44.0	47.0	46.0					19																	56538546		2092	4217	6309	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538546T>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.947T>A	19.37:g.56538546T>A	ENSP00000375063:p.Val316Asp					NLRP5_uc002qmi.2_Missense_Mutation_p.V297D	p.V316D	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	947	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	316			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.947T>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237788	0.39598	.	.	ENSG00000171487	ENST00000390649	D	0.82167	-1.58	3.35	-1.13	0.09775	NACHT nucleoside triphosphatase (1);	0.504996	0.14868	N	0.293688	D	0.86029	0.5835	M	0.84156	2.68	0.28298	N	0.923242	P	0.51933	0.949	P	0.53760	0.734	T	0.79600	-0.1736	10	0.87932	D	0	.	7.2664	0.26232	0.0:0.4727:0.0:0.5273	.	316	P59047	NALP5_HUMAN	D	316	ENSP00000375063:V316D	ENSP00000375063:V316D	V	+	2	0	NLRP5	61230358	0.060000	0.20803	0.015000	0.15790	0.016000	0.09150	0.169000	0.16641	-0.355000	0.08199	-0.290000	0.09829	GTC		0.567	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1		NM_153447		8	14	0	0	0	0.004482	0	8	14		
ZNF134	7693	broad.mit.edu	37	19	58131977	58131977	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:58131977G>C	ENST00000396161.5	+	3	800	c.490G>C	c.(490-492)Gag>Cag	p.E164Q		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	164					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CAGGAGCACTGAGAGTGGGGA	0.488																																						uc002qpn.2		NaN																	0					0						c.(490-492)GAG>CAG		zinc finger protein 134							49.0	51.0	50.0					19																	58131977		2188	4295	6483	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58131977G>C	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.490G>C	19.37:g.58131977G>C	ENSP00000379464:p.Glu164Gln					ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR	p.E164Q	NM_003435	NP_003426	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	589	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	164					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.490G>C	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	G	8.187	0.795098	0.16327	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.37235	1.21	3.42	0.0781	0.14411	.	.	.	.	.	T	0.26521	0.0648	L	0.49513	1.565	0.09310	N	1	B	0.15930	0.015	B	0.12156	0.007	T	0.25047	-1.0143	9	0.29301	T	0.29	.	3.562	0.07885	0.3432:0.1939:0.4629:0.0	.	164	P52741	ZN134_HUMAN	Q	231;84;164	ENSP00000379464:E164Q	ENSP00000379464:E164Q	E	+	1	0	ZNF134	62823789	0.004000	0.15560	0.000000	0.03702	0.032000	0.12392	0.923000	0.28757	0.115000	0.18071	0.650000	0.86243	GAG		0.488	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1		NM_003435		22	35	0	0	0	0.00333	0	22	35		
ZNF324	25799	broad.mit.edu	37	19	58982235	58982235	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr19:58982235C>T	ENST00000536459.2	+	4	1085	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	ZNF324_ENST00000196482.3_Missense_Mutation_p.R126W|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	126					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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGAGACAACGGGGTGCCTC	0.602																																						uc002qsw.1		NaN																	0					0						c.(376-378)CGG>TGG		zinc finger protein 324							92.0	99.0	97.0					19																	58982235		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982235C>T	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.376C>T	19.37:g.58982235C>T	ENSP00000444812:p.Arg126Trp					ZNF324_uc002qsx.1_5'Flank	p.R126W	NM_014347	NP_055162	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	470	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	126					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.376C>T	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404906	0.42613	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.06068	3.35;3.35	3.21	-0.204	0.13200	.	1.832110	0.03211	N	0.176143	T	0.08088	0.0202	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	P	0.47528	0.549	T	0.34725	-0.9817	10	0.45353	T	0.12	.	7.2497	0.26142	0.0:0.6682:0.0:0.3318	.	126	O75467	Z324A_HUMAN	W	126;126;126;116	ENSP00000196482:R126W;ENSP00000444812:R126W	ENSP00000196482:R126W	R	+	1	2	ZNF324	63674047	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	0.098000	0.15189	0.054000	0.16065	-0.391000	0.06502	CGG		0.602	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1		NM_014347		50	109	0	0	0	0.01441	0	50	109		
MYT1L	23040	broad.mit.edu	37	2	1855420	1855420	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:1855420G>A	ENST00000399161.2	-	19	3514	c.2767C>T	c.(2767-2769)Cat>Tat	p.H923Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.H921Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	923					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TACCTCCGATGAGAAGCATAA	0.433																																						uc002qxe.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(2767-2769)CAT>TAT		myelin transcription factor 1-like							111.0	109.0	109.0					2																	1855420		1944	4165	6109	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1855420G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2767C>T	2.37:g.1855420G>A	ENSP00000382114:p.His923Tyr					MYT1L_uc002qxd.2_Missense_Mutation_p.H921Y	p.H923Y	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	19	3594	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	923			C2HC-type 4.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2767C>T		.	.	.	.	.	.	.	.	.	.	G	18.20	3.572171	0.65765	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.64085	-0.08;-0.07	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.89601	3.045	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.69824	0.966;0.925	D	0.86031	0.1513	10	0.87932	D	0	-32.2093	16.5323	0.84364	0.0:0.0:1.0:0.0	.	923;921	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Y	923;869;921	ENSP00000382114:H923Y;ENSP00000396103:H921Y	ENSP00000295067:H869Y	H	-	1	0	MYT1L	1834427	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	6.937000	0.75898	2.629000	0.89072	0.557000	0.71058	CAT		0.433	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		49	110	0	0	0	0.01441	0	49	110		
RHOB	388	broad.mit.edu	37	2	20647266	20647266	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:20647266G>A	ENST00000272233.4	+	1	432	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	14					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	GGTGGGCGACGGCGCGTGTGG	0.677																																						uc002rdv.2		NaN																	0				ovary(1)|lung(1)	2						c.(40-42)GGC>AGC		ras homolog gene family, member B precursor							79.0	80.0	80.0					2																	20647266		2203	4300	6503	SO:0001583	missense	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647266G>A		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.40G>A	2.37:g.20647266G>A	ENSP00000272233:p.Gly14Ser						p.G14S	NM_004040	NP_004031	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	432	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	14	G->V: No effect on internalization of EGF receptor but decreases trafficking of receptor to the lysosome with associated accumulation in late endosomes.		GTP (By similarity).		B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	c.40G>A	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672371	0.96754	.	.	ENSG00000143878	ENST00000272233	T	0.76316	-1.01	5.72	5.72	0.89469	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.85579	0.5729	L	0.48877	1.53	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.86163	0.1595	10	0.87932	D	0	-21.6858	19.8738	0.96861	0.0:0.0:1.0:0.0	.	14	P62745	RHOB_HUMAN	S	14	ENSP00000272233:G14S	ENSP00000272233:G14S	G	+	1	0	RHOB	20510747	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	9.664000	0.98607	2.700000	0.92200	0.643000	0.83706	GGC		0.677	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1		NM_004040		28	72	0	0	0	0.010818	0	28	72		
ITSN2	50618	broad.mit.edu	37	2	24538094	24538094	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:24538094C>T	ENST00000355123.4	-	3	475		c.e3-1		ITSN2_ENST00000361999.3_Splice_Site|ITSN2_ENST00000407704.1_Splice_Site|ITSN2_ENST00000406921.3_Splice_Site	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2						endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGGCCCTCCTGAAACATAA	0.358																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.e3-1		intersectin 2 isoform 1							96.0	90.0	92.0					2																	24538094		2203	4300	6503	SO:0001630	splice_region_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24538094C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.32-1G>A	2.37:g.24538094C>T						ITSN2_uc002rff.2_Splice_Site_p.G11_splice|ITSN2_uc002rfg.2_Splice_Site_p.G11_splice|ITSN2_uc010eyd.2_Splice_Site_p.G11_splice	p.G11_splice	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			3	290	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Splice_Site	SNP	ENST00000355123.4	37	c.32_splice	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648658	0.67358	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.524	0.90965	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITSN2	24391598	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	6.482000	0.73613	2.696000	0.92011	0.655000	0.94253	.		0.358	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277	Intron	14	43	0	0	0	0.003163	0	14	43		
C2orf70	339778	broad.mit.edu	37	2	26799014	26799014	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:26799014C>T	ENST00000329615.3	+	2	350	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	C2orf70_ENST00000409392.1_Missense_Mutation_p.S94L	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	107						nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GGACAGCCATCGCTCCACAGA	0.637																																						uc010eyn.2		NaN																	0				skin(1)	1						c.(319-321)CGC>TGC		hypothetical protein LOC339778							75.0	80.0	78.0					2																	26799014		2028	4187	6215	SO:0001583	missense	339778							g.chr2:26799014C>T		CCDS42661.1	2p23.3	2011-05-09			ENSG00000173557	ENSG00000173557			27938	protein-coding gene	gene with protein product	"""hypothetical protein LOC339778"""						Standard	NM_001105519		Approved	LOC339778	uc010eyn.3	A6NJV1	OTTHUMG00000151994	ENST00000329615.3:c.319C>T	2.37:g.26799014C>T	ENSP00000332875:p.Arg107Cys						p.R107C	NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN			2	319	+			107						Missense_Mutation	SNP	ENST00000329615.3	37	c.319C>T	CCDS42661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.758|9.758	1.169346|1.169346	0.21621|0.21621	.|.	.|.	ENSG00000173557|ENSG00000173557	ENST00000329615|ENST00000409392	T|.	0.49139|.	0.79|.	4.8|4.8	3.82|3.82	0.43975|0.43975	.|.	0.000000|.	0.52532|.	D|.	0.000063|.	T|T	0.62258|0.62258	0.2413|0.2413	M|M	0.78916|0.78916	2.43|2.43	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.65987|.	0.94|.	T|T	0.56511|0.56511	-0.7967|-0.7967	10|6	0.87932|0.87932	D|D	0|0	-31.0319|-31.0319	13.2579|13.2579	0.60089|0.60089	0.1703:0.8297:0.0:0.0|0.1703:0.8297:0.0:0.0	.|.	107|.	A6NJV1|.	CB070_HUMAN|.	C|L	107|94	ENSP00000332875:R107C|.	ENSP00000332875:R107C|ENSP00000386615:S94L	R|S	+|+	1|2	0|0	C2orf70|C2orf70	26652518|26652518	0.831000|0.831000	0.29352|0.29352	0.065000|0.065000	0.19835|0.19835	0.003000|0.003000	0.03518|0.03518	1.956000|1.956000	0.40382|0.40382	2.196000|2.196000	0.70406|0.70406	0.462000|0.462000	0.41574|0.41574	CGC|TCG		0.637	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1		NM_001105519		81	113	0	0	0	0.01441	0	81	113		
BIRC6	57448	broad.mit.edu	37	2	32832645	32832645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:32832645C>T	ENST00000421745.2	+	72	14328	c.14194C>T	c.(14194-14196)Cga>Tga	p.R4732*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4732					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGGAAACATTCGACAAGCAAC	0.378																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(14194-14196)CGA>TGA		baculoviral IAP repeat-containing 6							145.0	144.0	144.0					2																	32832645		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832645C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14194C>T	2.37:g.32832645C>T	ENSP00000393596:p.Arg4732*						p.R4732*	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			72	14328	+	Acute lymphoblastic leukemia(172;0.155)		4732					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.14194C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	56	25.237983	0.99964	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.52	3.65	0.41850	.	0.088781	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	13.452	0.61176	0.4333:0.5667:0.0:0.0	.	.	.	.	X	4732	.	ENSP00000393596:R4732X	R	+	1	2	BIRC6	32686149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.968000	0.56809	0.616000	0.30141	0.585000	0.79938	CGA		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		31	52	0	0	0	0.009535	0	31	52		
FAM98A	25940	broad.mit.edu	37	2	33813494	33813494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:33813494G>A	ENST00000238823.8	-	4	570	c.430C>T	c.(430-432)Caa>Taa	p.Q144*	FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000403368.1_Nonsense_Mutation_p.Q144*			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	144							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TTCAACTCTTGAAAGACCTCA	0.423																																						uc002rpa.1		NaN																	0				ovary(1)	1						c.(430-432)CAA>TAA		hypothetical protein LOC25940							155.0	149.0	151.0					2																	33813494		2203	4300	6503	SO:0001587	stop_gained	25940							g.chr2:33813494G>A		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.430C>T	2.37:g.33813494G>A	ENSP00000238823:p.Gln144*					FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Nonsense_Mutation_p.Q21*	p.Q144*	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			4	504	-	all_hematologic(175;0.115)		144					B2RNA2|Q9Y3Y6	Nonsense_Mutation	SNP	ENST00000238823.8	37	c.430C>T	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912977	0.92178	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	.	.	.	5.5	5.5	0.81552	.	0.060787	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-8.7063	14.5912	0.68365	0.0:0.0:0.854:0.146	.	.	.	.	X	144	.	ENSP00000238823:Q144X	Q	-	1	0	FAM98A	33666998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.316000	0.65815	2.730000	0.93505	0.563000	0.77884	CAA		0.423	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2		NM_015475		35	87	0	0	0	0.00623	0	35	87		
ZFP36L2	678	broad.mit.edu	37	2	43452474	43452474	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:43452474C>T	ENST00000282388.3	-	2	762	c.469G>A	c.(469-471)Gag>Aag	p.E157K	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	157					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E157Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGGCACAGCTCGGTCTTGTAG	0.652																																						uc002rsv.3		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(469-471)GAG>AAG		zinc finger protein 36, C3H type-like 2							37.0	37.0	37.0					2																	43452474		2202	4300	6502	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452474C>T	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.469G>A	2.37:g.43452474C>T	ENSP00000282388:p.Glu157Lys					LOC100129726_uc010ynx.1_5'Flank	p.E157K	NM_006887	NP_008818	P47974	TISD_HUMAN			2	760	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	157			C3H1-type 1.|RNA-binding.		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.469G>A	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374707	0.95923	.	.	ENSG00000152518	ENST00000282388	T	0.51325	0.71	4.76	4.76	0.60689	Zinc finger, CCCH-type (3);	0.063998	0.64402	D	0.000010	T	0.64962	0.2646	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68849	-0.5300	10	0.87932	D	0	-28.709	16.6213	0.84931	0.0:1.0:0.0:0.0	.	157	P47974	TISD_HUMAN	K	157	ENSP00000282388:E157K	ENSP00000282388:E157K	E	-	1	0	ZFP36L2	43305978	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.308000	0.78929	2.202000	0.70862	0.555000	0.69702	GAG		0.652	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2		NM_006887		12	45	0	0	0	0.013537	0	12	45		
ZFP36L2	678	broad.mit.edu	37	2	43452478	43452478	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:43452478C>G	ENST00000282388.3	-	2	758	c.465G>C	c.(463-465)aaG>aaC	p.K155N	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	155					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K155N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				ACAGCTCGGTCTTGTAGCGCG	0.657																																						uc002rsv.3		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(463-465)AAG>AAC		zinc finger protein 36, C3H type-like 2							37.0	37.0	37.0					2																	43452478		2202	4300	6502	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452478C>G	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.465G>C	2.37:g.43452478C>G	ENSP00000282388:p.Lys155Asn					LOC100129726_uc010ynx.1_5'Flank	p.K155N	NM_006887	NP_008818	P47974	TISD_HUMAN			2	756	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	155			C3H1-type 1.|RNA-binding.		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.465G>C	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750567	0.69533	.	.	ENSG00000152518	ENST00000282388	T	0.59083	0.29	4.76	1.83	0.25207	Zinc finger, CCCH-type (3);	0.125552	0.50627	D	0.000105	D	0.83362	0.5238	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84456	0.0591	10	0.87932	D	0	-21.3272	10.2314	0.43258	0.0:0.7987:0.0:0.2013	.	155	P47974	TISD_HUMAN	N	155	ENSP00000282388:K155N	ENSP00000282388:K155N	K	-	3	2	ZFP36L2	43305982	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	1.074000	0.30703	0.056000	0.16144	0.555000	0.69702	AAG		0.657	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2		NM_006887		11	47	0	0	0	0.010729	0	11	47		
ATP6V1E2	90423	broad.mit.edu	37	2	46739578	46739578	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:46739578G>C	ENST00000306448.4	-	2	1386	c.273C>G	c.(271-273)atC>atG	p.I91M	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.I91M	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	91					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCAAATCTGAGATGAGGTCAT	0.527																																						uc002ruy.2		NaN																	0				ovary(1)|skin(1)	2						c.(271-273)ATC>ATG		ATPase, H+ transporting, lysosomal 31kDa, V1							108.0	104.0	105.0					2																	46739578		2203	4300	6503	SO:0001583	missense	90423				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism	g.chr2:46739578G>C	BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.273C>G	2.37:g.46739578G>C	ENSP00000304891:p.Ile91Met					ATP6V1E2_uc002ruz.2_Missense_Mutation_p.I91M	p.I91M	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		2	1387	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	91						Missense_Mutation	SNP	ENST00000306448.4	37	c.273C>G	CCDS1826.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673205	0.47781	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.22	3.35	0.38373	.	0.048754	0.85682	D	0.000000	T	0.65863	0.2732	M	0.64170	1.965	0.58432	D	0.999999	P	0.49559	0.925	P	0.59012	0.85	T	0.67749	-0.5590	9	0.87932	D	0	-9.2661	7.9835	0.30198	0.1087:0.0:0.8913:0.0	.	91	Q96A05	VATE2_HUMAN	M	91	.	ENSP00000304891:I91M	I	-	3	3	ATP6V1E2	46593082	0.751000	0.28327	0.996000	0.52242	0.601000	0.36947	1.217000	0.32455	1.373000	0.46208	0.655000	0.94253	ATC		0.527	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1		NM_080653		29	70	0	0	0	0.003755	0	29	70		
SPTBN1	6711	broad.mit.edu	37	2	54848571	54848571	+	Silent	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:54848571A>T	ENST00000356805.4	+	8	1079	c.798A>T	c.(796-798)atA>atT	p.I266I	SPTBN1_ENST00000333896.5_Silent_p.I253I	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	266	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			AGAAGTCCATAATCACTTATG	0.463																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(796-798)ATA>ATT		spectrin, beta, non-erythrocytic 1 isoform 1							170.0	149.0	156.0					2																	54848571		2203	4300	6503	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.chr2:54848571A>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.798A>T	2.37:g.54848571A>T						SPTBN1_uc002rxv.1_Silent_p.I266I|SPTBN1_uc002rxx.2_Silent_p.I253I	p.I266I	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		8	1047	+			266			CH 2.|Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.798A>T	CCDS33198.1																																																																																				0.463	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				33	72	0	0	0	0.004878	0	33	72		
REG3A	5068	broad.mit.edu	37	2	79385578	79385578	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:79385578C>T	ENST00000409839.3	-	4	243	c.207G>A	c.(205-207)caG>caA	p.Q69Q	REG3A_ENST00000305165.2_Silent_p.Q69Q|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Silent_p.Q69Q	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	69	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AGGGCCGCTTCTGGCAGGCCA	0.572																																						uc002sod.1		NaN																	0				skin(1)	1						c.(205-207)CAG>CAA		pancreatitis-associated protein precursor							86.0	78.0	81.0					2																	79385578		2203	4300	6503	SO:0001819	synonymous_variant	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385578C>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.207G>A	2.37:g.79385578C>T						REG3A_uc002soe.1_Silent_p.Q69Q|REG3A_uc002sof.1_Silent_p.Q69Q	p.Q69Q	NM_138938	NP_620355	Q06141	REG3A_HUMAN			3	462	-			69			C-type lectin.			Silent	SNP	ENST00000409839.3	37	c.207G>A	CCDS1965.1																																																																																				0.572	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2		NM_002580		32	76	0	0	0	0.005524	0	32	76		
LRRTM1	347730	broad.mit.edu	37	2	80530727	80530727	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:80530727C>T	ENST00000295057.3	-	2	874	c.218G>A	c.(217-219)cGc>cAc	p.R73H	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R73H|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	73					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCTGTTGTAGCGCAGGGACAA	0.662										HNSCC(69;0.2)																												uc002sok.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(217-219)CGC>CAC		leucine rich repeat transmembrane neuronal 1							53.0	57.0	55.0					2																	80530727		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530727C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.218G>A	2.37:g.80530727C>T	ENSP00000295057:p.Arg73His	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.R73H	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	488	-			73			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.218G>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401810	0.42613	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.65	4.65	0.58169	.	0.129101	0.50627	U	0.000105	T	0.60130	0.2245	L	0.35341	1.055	0.80722	D	1	D	0.89917	1.0	P	0.62885	0.908	T	0.58967	-0.7542	9	.	.	.	.	17.5101	0.87758	0.0:1.0:0.0:0.0	.	73	Q86UE6	LRRT1_HUMAN	H	73	ENSP00000295057:R73H;ENSP00000386646:R73H;ENSP00000415368:R73H;ENSP00000389473:R73H;ENSP00000404557:R73H	.	R	-	2	0	LRRTM1	80384238	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	7.805000	0.86005	2.121000	0.65114	0.436000	0.28706	CGC		0.662	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1		NM_178839		48	114	0	0	0	0.01441	0	48	114		
POLR1A	25885	broad.mit.edu	37	2	86305369	86305369	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:86305369C>T	ENST00000263857.6	-	10	1503	c.1125G>A	c.(1123-1125)ttG>ttA	p.L375L	POLR1A_ENST00000409681.1_Silent_p.L375L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	375					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAAGTGTACTCAAAAAGGATC	0.423																																						uc002sqs.2		NaN																	0				ovary(2)|skin(1)	3						c.(1123-1125)TTG>TTA		DNA-directed RNA polymerase I A							122.0	110.0	113.0					2																	86305369		1876	4111	5987	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86305369C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1125G>A	2.37:g.86305369C>T						POLR1A_uc002sqv.2_Silent_p.L375L	p.L375L	NM_015425	NP_056240	O95602	RPA1_HUMAN			10	1504	-			375					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.1125G>A	CCDS42706.1																																																																																				0.423	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2		NM_015425		22	41	0	0	0	0.00333	0	22	41		
ANKRD36	375248	broad.mit.edu	37	2	97779539	97779539	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:97779539C>G	ENST00000461153.2	+	1	307	c.63C>G	c.(61-63)ttC>ttG	p.F21L	ANKRD36_ENST00000420699.2_Missense_Mutation_p.F21L			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	21										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CGGATGGCTTCGCATTTCCCC	0.512																																						uc010yva.1		NaN																	0					0						c.(61-63)TTC>TTG		ankyrin repeat domain 36							105.0	105.0	105.0					2																	97779539		1993	4175	6168	SO:0001583	missense	375248							g.chr2:97779539C>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.63C>G	2.37:g.97779539C>G	ENSP00000419530:p.Phe21Leu					ANKRD36_uc002sxn.2_Missense_Mutation_p.F21L|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Missense_Mutation_p.F21L|ANKRD36_uc002sxp.3_RNA	p.F21L	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			1	307	+			21					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.63C>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611281	0.28712	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000393513;ENST00000289105;ENST00000455519	T;T	0.27720	1.65;1.65	0.453	-0.779	0.10973	.	.	.	.	.	T	0.30823	0.0777	L	0.31578	0.945	0.18873	N	0.999985	P;P;P	0.51791	0.471;0.948;0.948	P;P;P	0.56474	0.572;0.799;0.799	T	0.18023	-1.0350	8	0.62326	D	0.03	.	.	.	.	.	21;21;21	A6QL64;F2Z332;A6QL64-4	AN36A_HUMAN;.;.	L	21	ENSP00000419530:F21L;ENSP00000391950:F21L	ENSP00000289105:F21L	F	+	3	2	ANKRD36	97143266	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.033000	0.13754	-0.424000	0.07382	-0.424000	0.05967	TTC		0.512	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5				54	90	0	0	0	0.01441	0	54	90		
EIF5B	9669	broad.mit.edu	37	2	99998633	99998633	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:99998633G>C	ENST00000289371.6	+	13	2275	c.2073G>C	c.(2071-2073)gaG>gaC	p.E691D		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	691	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGATAGAGAGAATGTACGGA	0.353																																					Colon(162;2388 2567 2705 3444)	uc002tab.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2071-2073)GAG>GAC		eukaryotic translation initiation factor 5B							157.0	142.0	147.0					2																	99998633		1821	4077	5898	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99998633G>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2073G>C	2.37:g.99998633G>C	ENSP00000289371:p.Glu691Asp						p.E691D	NM_015904	NP_056988	O60841	IF2P_HUMAN			13	2257	+			691					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.2073G>C	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814183	0.32053	.	.	ENSG00000158417	ENST00000289371	T	0.72282	-0.64	5.43	2.29	0.28610	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	.	.	.	.	T	0.47432	0.1445	N	0.11201	0.11	0.49798	D	0.999821	B	0.21071	0.051	B	0.24155	0.051	T	0.16512	-1.0400	8	.	.	.	-26.3476	8.8921	0.35441	0.2693:0.0:0.7307:0.0	.	691	O60841	IF2P_HUMAN	D	691	ENSP00000289371:E691D	.	E	+	3	2	EIF5B	99365065	0.998000	0.40836	0.999000	0.59377	0.990000	0.78478	0.430000	0.21428	0.489000	0.27749	0.563000	0.77884	GAG		0.353	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2		NM_015904		8	53	0	0	0	0.006214	0	8	53		
SLC5A7	60482	broad.mit.edu	37	2	108608587	108608587	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:108608587C>T	ENST00000264047.2	+	3	480	c.204C>T	c.(202-204)atC>atT	p.I68I	SLC5A7_ENST00000409059.1_Silent_p.I68I|SLC5A7_ENST00000540517.1_5'UTR	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	68					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.I68I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAGGGTATATCAATGGCACAG	0.458																																						uc002tdv.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(202-204)ATC>ATT		solute carrier family 5 (choline transporter),	Choline(DB00122)						174.0	148.0	157.0					2																	108608587		2203	4300	6503	SO:0001819	synonymous_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108608587C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.204C>T	2.37:g.108608587C>T						SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Silent_p.I68I|SLC5A7_uc010ywn.1_5'UTR	p.I68I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			3	480	+			68			Helical; (Potential).		Q53TF2	Silent	SNP	ENST00000264047.2	37	c.204C>T	CCDS2074.1																																																																																				0.458	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1				34	75	0	0	0	0.011902	0	34	75		
RANBP2	5903	broad.mit.edu	37	2	109398640	109398640	+	Silent	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:109398640A>G	ENST00000283195.6	+	27	8943	c.8817A>G	c.(8815-8817)aaA>aaG	p.K2939K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2939	RanBD1 4. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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						AGAGAGCCAAACTTTATAGAT	0.363																																						uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(8815-8817)AAA>AAG		RAN binding protein 2							73.0	78.0	76.0					2																	109398640		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:109398640A>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.8817A>G	2.37:g.109398640A>G							p.K2939K	NM_006267	NP_006258	P49792	RBP2_HUMAN			27	8943	+			2939			RanBD1 4.		Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.8817A>G	CCDS2079.1																																																																																				0.363	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267		17	28	0	0	0	0.010504	0	17	28		
PSD4	23550	broad.mit.edu	37	2	113955352	113955352	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:113955352A>G	ENST00000245796.6	+	14	2681	c.2486A>G	c.(2485-2487)gAg>gGg	p.E829G	PSD4_ENST00000441564.3_Missense_Mutation_p.E800G	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	829	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGGAGGGGGAGAGCTTGGTG	0.622																																						uc002tjc.2		NaN																	0				ovary(2)	2						c.(2485-2487)GAG>GGG		pleckstrin and Sec7 domain containing 4							46.0	47.0	47.0					2																	113955352		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113955352A>G	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2486A>G	2.37:g.113955352A>G	ENSP00000245796:p.Glu829Gly					PSD4_uc002tjd.2_Missense_Mutation_p.E449G|PSD4_uc002tje.2_Missense_Mutation_p.E799G|PSD4_uc002tjf.2_Missense_Mutation_p.E450G|PSD4_uc002tjg.2_5'UTR|PSD4_uc010yxs.1_Missense_Mutation_p.E59G|PSD4_uc002tjh.2_5'Flank	p.E829G	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			14	2669	+			829			PH.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.2486A>G	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	A	9.695	1.152885	0.21371	.	.	ENSG00000125637	ENST00000245796;ENST00000441564;ENST00000409378	T;T	0.10860	2.83;2.85	4.67	3.53	0.40419	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.986040	0.08314	N	0.964991	T	0.05777	0.0151	N	0.03324	-0.35	0.09310	N	1	B;B;B;B	0.12630	0.0;0.006;0.005;0.006	B;B;B;B	0.25759	0.004;0.038;0.037;0.063	T	0.26916	-1.0089	10	0.62326	D	0.03	.	5.9159	0.19055	0.8334:0.0:0.1666:0.0	.	59;486;800;829	B4DFU9;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;PSD4_HUMAN	G	829;800;42	ENSP00000245796:E829G;ENSP00000413997:E800G	ENSP00000245796:E829G	E	+	2	0	PSD4	113671823	0.969000	0.33509	0.674000	0.29902	0.337000	0.28794	1.473000	0.35387	1.735000	0.51646	0.379000	0.24179	GAG		0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1		NM_012455		3	107	0	0	0	0.000602	0	3	107		
DPP10	57628	broad.mit.edu	37	2	116066832	116066832	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:116066832C>T	ENST00000410059.1	+	2	558	c.78C>T	c.(76-78)agC>agT	p.S26S	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Silent_p.S19S|DPP10_ENST00000393147.2_Silent_p.S30S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	26	Mediates effects on KCND2.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAAGTAACAGCCCTCCACAGA	0.403																																						uc002tla.1		NaN																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(76-78)AGC>AGT		dipeptidyl peptidase 10 isoform long							185.0	170.0	175.0					2																	116066832		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116066832C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.78C>T	2.37:g.116066832C>T						DPP10_uc002tlb.1_5'UTR|DPP10_uc002tlc.1_Silent_p.S22S|DPP10_uc002tle.2_Silent_p.S30S|DPP10_uc002tlf.1_Silent_p.S19S	p.S26S	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			2	535	+			26			Mediates effects on KCND2.|Cytoplasmic (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.78C>T	CCDS46400.1																																																																																				0.403	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4		NM_020868		19	24	0	0	0	0.008871	0	19	24		
DPP10	57628	broad.mit.edu	37	2	116572442	116572442	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:116572442G>A	ENST00000410059.1	+	20	2254	c.1774G>A	c.(1774-1776)Gat>Aat	p.D592N	DPP10_ENST00000409163.1_Missense_Mutation_p.D542N|DPP10_ENST00000310323.8_Missense_Mutation_p.D585N|DPP10_ENST00000393147.2_Missense_Mutation_p.D596N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	592						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATTGACATGGATAATGTCAT	0.413																																						uc002tla.1		NaN																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1774-1776)GAT>AAT		dipeptidyl peptidase 10 isoform long							144.0	139.0	140.0					2																	116572442		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116572442G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1774G>A	2.37:g.116572442G>A	ENSP00000386565:p.Asp592Asn					DPP10_uc002tlb.1_Missense_Mutation_p.D542N|DPP10_uc002tlc.1_Missense_Mutation_p.D588N|DPP10_uc002tle.2_Missense_Mutation_p.D596N|DPP10_uc002tlf.1_Missense_Mutation_p.D585N	p.D592N	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			20	2231	+			592			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1774G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527643	0.64860	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.16	5.16	0.70880	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.35653	0.0939	N	0.00765	-1.205	0.58432	D	0.999999	B;D;B;B	0.76494	0.291;0.999;0.339;0.339	B;D;B;B	0.72982	0.234;0.979;0.261;0.345	T	0.64859	-0.6308	10	0.56958	D	0.05	-15.7963	17.808	0.88607	0.0:0.0:1.0:0.0	.	585;596;588;592	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	592;542;596;585;542	ENSP00000386565:D592N;ENSP00000387038:D542N;ENSP00000376855:D596N;ENSP00000309066:D585N	ENSP00000309066:D585N	D	+	1	0	DPP10	116288912	1.000000	0.71417	0.983000	0.44433	0.841000	0.47740	5.007000	0.63984	2.702000	0.92279	0.655000	0.94253	GAT		0.413	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4		NM_020868		20	73	0	0	0	0.00333	0	20	73		
WDR33	55339	broad.mit.edu	37	2	128467402	128467402	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:128467402C>T	ENST00000322313.4	-	19	3495	c.3337G>A	c.(3337-3339)Gag>Aag	p.E1113K		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1113					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)		GCACGGCCCTCATGCCTCGGC	0.522																																						uc002tpg.1		NaN																	0					0						c.(3337-3339)GAG>AAG		WD repeat domain 33 isoform 1							93.0	108.0	103.0					2																	128467402		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128467402C>T		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.3337G>A	2.37:g.128467402C>T	ENSP00000325377:p.Glu1113Lys						p.E1113K	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	19	3520	-	Colorectal(110;0.1)		1113					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3337G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273916	0.80580	.	.	ENSG00000136709	ENST00000322313	D	0.90732	-2.72	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000003	D	0.83700	0.5311	N	0.14661	0.345	0.80722	D	1	P	0.46656	0.882	B	0.40534	0.332	D	0.83892	0.0285	10	0.30078	T	0.28	-13.7108	18.9833	0.92762	0.0:1.0:0.0:0.0	.	1113	Q9C0J8	WDR33_HUMAN	K	1113	ENSP00000325377:E1113K	ENSP00000325377:E1113K	E	-	1	0	WDR33	128183872	1.000000	0.71417	0.996000	0.52242	0.684000	0.39900	4.261000	0.58841	2.493000	0.84123	0.561000	0.74099	GAG		0.522	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2		NM_018383		73	130	0	0	0	0.01441	0	73	130		
WDR33	55339	broad.mit.edu	37	2	128482710	128482710	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:128482710G>C	ENST00000322313.4	-	9	1089	c.931C>G	c.(931-933)Ctc>Gtc	p.L311V		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	311					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)		AGTTTACAGAGATGATCACGT	0.383																																						uc002tpg.1		NaN																	0					0						c.(931-933)CTC>GTC		WD repeat domain 33 isoform 1							106.0	104.0	105.0					2																	128482710		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128482710G>C		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.931C>G	2.37:g.128482710G>C	ENSP00000325377:p.Leu311Val						p.L311V	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	9	1114	-	Colorectal(110;0.1)		311			WD 5.		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.931C>G	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403900	0.62288	.	.	ENSG00000136709	ENST00000322313	T	0.60424	0.19	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.69061	0.3069	L	0.37750	1.13	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.68394	-0.5420	10	0.45353	T	0.12	-9.7234	19.2417	0.93887	0.0:0.0:1.0:0.0	.	311	Q9C0J8	WDR33_HUMAN	V	311	ENSP00000325377:L311V	ENSP00000325377:L311V	L	-	1	0	WDR33	128199180	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.522000	0.73783	2.544000	0.85801	0.563000	0.77884	CTC		0.383	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2		NM_018383		9	13	0	0	0	0.010729	0	9	13		
POTEF	728378	broad.mit.edu	37	2	130878029	130878029	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:130878029G>C	ENST00000409914.2	-	3	459	c.60C>G	c.(58-60)ctC>ctG	p.L20L	POTEF_ENST00000360967.5_Silent_p.L20L|POTEF_ENST00000361163.4_Silent_p.L20L|POTEF_ENST00000357462.5_Silent_p.L20L	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	20					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCTTGCTCCTGAGACCAAATG	0.557																																						uc010fmh.2		NaN																	0				skin(3)|ovary(2)	5						c.(58-60)CTC>CTG		prostate, ovary, testis expressed protein on							74.0	77.0	76.0					2																	130878029		2200	4293	6493	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130878029G>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.60C>G	2.37:g.130878029G>C							p.L20L	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			3	460	-			20					A6NC34	Silent	SNP	ENST00000409914.2	37	c.60C>G	CCDS46409.1																																																																																				0.557	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2		NM_001099771		23	146	0	0	0	0.006999	0	23	146		
CCDC115	84317	broad.mit.edu	37	2	131098587	131098587	+	Silent	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:131098587A>C	ENST00000259229.2	-	4	547	c.324T>G	c.(322-324)acT>acG	p.T108T	CCDC115_ENST00000409127.1_Silent_p.T103T|IMP4_ENST00000259239.3_5'Flank|IMP4_ENST00000409935.1_5'Flank|CCDC115_ENST00000437688.2_Silent_p.T103T	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	108						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					CTGGGGTCTTAGTGGGGCCCT	0.552																																						uc002tqy.1		NaN																	0					0						c.(322-324)ACT>ACG		coiled-coil domain containing 115							24.0	28.0	27.0					2																	131098587		2203	4300	6503	SO:0001819	synonymous_variant	84317					endosome|lysosome		g.chr2:131098587A>C	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.324T>G	2.37:g.131098587A>C						CCDC115_uc002tqw.1_Silent_p.T100T|CCDC115_uc010zaf.1_Silent_p.T103T|CCDC115_uc002tqx.2_Silent_p.T103T|CCDC115_uc002tqz.1_Silent_p.T108T|IMP4_uc002tra.1_5'Flank	p.T108T	NM_032357	NP_115733	Q96NT0	CC115_HUMAN			4	548	-	Colorectal(110;0.1)		108					B4DJ47|Q9BR88	Silent	SNP	ENST00000259229.2	37	c.324T>G	CCDS2159.1																																																																																				0.552	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2		NM_032357		5	17	0	0	0	0.001168	0	5	17		
FAM168B	130074	broad.mit.edu	37	2	131810476	131810476	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:131810476T>C	ENST00000409185.1	-	6	695	c.588A>G	c.(586-588)tgA>tgG	p.*196W	FAM168B_ENST00000389915.3_Nonstop_Mutation_p.*196W	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	0						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						TTGCAGGTGATCACCACTGAG	0.557																																						uc002tsd.2		NaN																	0					0						c.(586-588)TGA>TGG		hypothetical protein LOC130074							20.0	24.0	23.0					2																	131810476		1953	4125	6078	SO:0001578	stop_lost	130074							g.chr2:131810476T>C		CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.588A>G	2.37:g.131810476T>C	ENSP00000387051:p.*196Cysext*6						p.*196W	NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN			6	817	-			196					Q2TAZ6|Q6NZ40	Nonstop_Mutation	SNP	ENST00000409185.1	37	c.588A>G	CCDS42755.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.893303	0.72524	.	.	ENSG00000152102	ENST00000409185;ENST00000389915	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	.	.	.	W	196	.	.	X	-	3	0	FAM168B	131526946	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.530000	0.81962	2.371000	0.80710	0.533000	0.62120	TGA		0.557	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2		NM_001009993		3	8	0	0	0	0.009096	0	3	8		
GPR39	2863	broad.mit.edu	37	2	133174626	133174626	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:133174626C>T	ENST00000329321.3	+	1	480	c.11C>T	c.(10-12)cCc>cTc	p.P4L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	4					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGCTTCACCCAGCCTCCCG	0.517																																						uc002ttl.2		NaN																	0					0						c.(10-12)CCC>CTC		G protein-coupled receptor 39							82.0	84.0	83.0					2																	133174626		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133174626C>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.11C>T	2.37:g.133174626C>T	ENSP00000327417:p.Pro4Leu						p.P4L	NM_001508	NP_001499	O43194	GPR39_HUMAN			1	480	+			4			Extracellular (Potential).		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.11C>T	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673415	0.29693	.	.	ENSG00000183840	ENST00000329321	T	0.62941	-0.01	5.21	-2.9	0.05648	.	1.545700	0.03615	N	0.235426	T	0.45597	0.1350	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34079	-0.9843	10	0.49607	T	0.09	.	4.4767	0.11746	0.5259:0.188:0.2123:0.0738	.	4	O43194	GPR39_HUMAN	L	4	ENSP00000327417:P4L	ENSP00000327417:P4L	P	+	2	0	GPR39	132891096	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-2.636000	0.00867	-0.169000	0.10834	0.449000	0.29647	CCC		0.517	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1				28	51	0	0	0	0.003755	0	28	51		
NCKAP5	344148	broad.mit.edu	37	2	133531409	133531409	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:133531409A>G	ENST00000409261.1	-	16	5481	c.5108T>C	c.(5107-5109)gTa>gCa	p.V1703A	NCKAP5_ENST00000405974.3_Missense_Mutation_p.V384A|NCKAP5_ENST00000473859.1_Intron|NCKAP5_ENST00000409213.1_Missense_Mutation_p.V384A|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V1703A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1703										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTCTGAAATACAGAATCTGC	0.343																																						uc002ttp.2		NaN																	0					0						c.(5107-5109)GTA>GCA		Nck-associated protein 5 isoform 1							207.0	198.0	201.0					2																	133531409		1855	4100	5955	SO:0001583	missense	344148						protein binding	g.chr2:133531409A>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5108T>C	2.37:g.133531409A>G	ENSP00000387128:p.Val1703Ala					NCKAP5_uc002ttq.2_Missense_Mutation_p.V384A	p.V1703A	NM_207363	NP_997246	O14513	NCKP5_HUMAN			16	5482	-			1703					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5108T>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	A	5.407	0.260257	0.10239	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.48201	2.86;0.82;2.86;0.82	5.64	2.86	0.33363	.	1.669070	0.05009	N	0.470610	T	0.25975	0.0633	N	0.04508	-0.205	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22068	-1.0227	10	0.18710	T	0.47	.	6.9739	0.24664	0.1545:0.1519:0.6936:0.0	.	384;1703	O14513-2;O14513	.;NCKP5_HUMAN	A	1703;384;1703;384;384	ENSP00000387128:V1703A;ENSP00000386952:V384A;ENSP00000380603:V1703A;ENSP00000385692:V384A	ENSP00000380603:V1703A	V	-	2	0	NCKAP5	133247879	0.980000	0.34600	0.182000	0.23118	0.972000	0.66771	1.867000	0.39499	0.458000	0.26988	-0.248000	0.11899	GTA		0.343	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		40	67	0	0	0	0.01441	0	40	67		
NCKAP5	344148	broad.mit.edu	37	2	133721430	133721430	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:133721430C>T	ENST00000409261.1	-	8	815	c.442G>A	c.(442-444)Gag>Aag	p.E148K	NCKAP5_ENST00000405974.3_Missense_Mutation_p.E148K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.E148K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E148K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	148										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCTCTTCCTCTGACAGCTTT	0.403																																						uc002ttp.2		NaN																	0					0						c.(442-444)GAG>AAG		Nck-associated protein 5 isoform 1							155.0	147.0	149.0					2																	133721430		1864	4098	5962	SO:0001583	missense	344148						protein binding	g.chr2:133721430C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.442G>A	2.37:g.133721430C>T	ENSP00000387128:p.Glu148Lys					NCKAP5_uc002ttq.2_Missense_Mutation_p.E148K|NCKAP5_uc002tts.1_Missense_Mutation_p.E123K	p.E148K	NM_207363	NP_997246	O14513	NCKP5_HUMAN			8	816	-			148			Potential.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.442G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962820	0.74016	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834	T;T;T;T	0.52057	2.65;0.68;2.65;0.68	5.0	5.0	0.66597	.	.	.	.	.	T	0.38108	0.1028	N	0.08118	0	0.25561	N	0.986992	P;P;B	0.49961	0.827;0.93;0.383	B;P;B	0.47915	0.442;0.561;0.066	T	0.36553	-0.9743	9	0.62326	D	0.03	.	15.4984	0.75677	0.0:1.0:0.0:0.0	.	123;148;148	O14513-3;O14513-2;O14513	.;.;NCKP5_HUMAN	K	148;148;148;148;148;123	ENSP00000387128:E148K;ENSP00000386952:E148K;ENSP00000380603:E148K;ENSP00000385692:E148K	ENSP00000380603:E148K	E	-	1	0	NCKAP5	133437900	0.998000	0.40836	0.989000	0.46669	0.947000	0.59692	2.440000	0.44855	2.765000	0.95021	0.650000	0.86243	GAG		0.403	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		14	83	0	0	0	0.003163	0	14	83		
ZEB2	9839	broad.mit.edu	37	2	145154073	145154073	+	Missense_Mutation	SNP	G	G	C	rs572507342	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:145154073G>C	ENST00000558170.2	-	9	4157	c.2973C>G	c.(2971-2973)atC>atG	p.I991M	ZEB2_ENST00000303660.4_Missense_Mutation_p.I991M|ZEB2_ENST00000539609.3_Missense_Mutation_p.I967M|ZEB2_ENST00000409487.3_Missense_Mutation_p.I991M	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	991					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGTCTTCTTGATCTTTTTGC	0.443																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NaN																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(2971-2973)ATC>ATG		zinc finger homeobox 1b							277.0	229.0	245.0					2																	145154073		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145154073G>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2973C>G	2.37:g.145154073G>C	ENSP00000454157:p.Ile991Met					ZEB2_uc002tvv.2_Missense_Mutation_p.I985M|ZEB2_uc010zbm.1_Missense_Mutation_p.I962M|ZEB2_uc010fnp.2_Intron	p.I991M	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	9	3453	-			991					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.2973C>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	7.589	0.670375	0.14776	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.15372	2.43;2.43;2.43	5.94	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.17323	0.0416	N	0.17082	0.46	0.58432	D	0.999999	B;D;D	0.59357	0.274;0.985;0.985	B;P;P	0.56434	0.19;0.798;0.798	T	0.10154	-1.0642	10	0.20046	T	0.44	-9.1242	9.5167	0.39109	0.0706:0.0:0.7814:0.148	.	967;990;991	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	M	967;991;991	ENSP00000443792:I967M;ENSP00000302501:I991M;ENSP00000386854:I991M	ENSP00000302501:I991M	I	-	3	3	ZEB2	144870543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.563000	0.45922	1.460000	0.47911	0.650000	0.86243	ATC		0.443	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5		NM_014795		56	91	0	0	0	0.01441	0	56	91		
GALNT13	114805	broad.mit.edu	37	2	155099224	155099224	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:155099224G>C	ENST00000392825.3	+	6	1059	c.492G>C	c.(490-492)ttG>ttC	p.L164F	GALNT13_ENST00000409237.1_Missense_Mutation_p.L164F	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	164	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTCTCAAGTTGACATTAGAGA	0.338																																						uc002tyr.3		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(490-492)TTG>TTC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							26.0	28.0	27.0					2																	155099224		2202	4299	6501	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099224G>C	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.492G>C	2.37:g.155099224G>C	ENSP00000376570:p.Leu164Phe					GALNT13_uc002tyt.3_Missense_Mutation_p.L164F|GALNT13_uc010foc.1_5'UTR	p.L164F	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			6	1059	+			164			Lumenal (Potential).|Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.492G>C	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388953	0.42308	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.98	3.24	0.37175	Glycosyl transferase, family 2 (1);	0.543006	0.19290	N	0.117915	T	0.42449	0.1203	N	0.20986	0.625	0.26621	N	0.972645	B;B	0.23442	0.085;0.025	B;B	0.32583	0.148;0.128	T	0.40270	-0.9572	10	0.66056	D	0.02	.	5.1087	0.14798	0.2872:0.1548:0.558:0.0	.	164;164	Q08ER7;Q8IUC8	.;GLT13_HUMAN	F	164	ENSP00000376570:L164F;ENSP00000387239:L164F	ENSP00000376570:L164F	L	+	3	2	GALNT13	154807470	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	0.071000	0.14594	0.885000	0.36088	0.585000	0.79938	TTG		0.338	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2		NM_052917		11	25	0	0	0	0.010729	0	11	25		
SCRN3	79634	broad.mit.edu	37	2	175263091	175263091	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:175263091C>G	ENST00000272732.6	+	2	162	c.80C>G	c.(79-81)tCa>tGa	p.S27*	CIR1_ENST00000362053.5_5'Flank|SCRN3_ENST00000409673.3_Intron|CIR1_ENST00000342016.3_5'Flank	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	27							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			GGAAAAAATTCAGATAGACTC	0.343																																						uc002uiq.2		NaN																	0				ovary(1)	1						c.(79-81)TCA>TGA		secernin 3							120.0	131.0	127.0					2																	175263091		2203	4300	6503	SO:0001587	stop_gained	79634				proteolysis		dipeptidase activity	g.chr2:175263091C>G	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.80C>G	2.37:g.175263091C>G	ENSP00000272732:p.Ser27*					CIR1_uc002uim.2_5'Flank|CIR1_uc002uin.2_5'Flank|CIR1_uc002uio.2_5'Flank|CIR1_uc002uip.2_5'Flank|SCRN3_uc010zen.1_Intron|SCRN3_uc010zeo.1_5'UTR|SCRN3_uc002uir.1_RNA	p.S27*	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		2	168	+			27					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Nonsense_Mutation	SNP	ENST00000272732.6	37	c.80C>G	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	C	36	5.899634	0.97081	.	.	ENSG00000144306	ENST00000458563;ENST00000272732;ENST00000424069;ENST00000427038;ENST00000548031	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.5665	20.2331	0.98353	0.0:1.0:0.0:0.0	.	.	.	.	X	27	.	ENSP00000272732:S27X	S	+	2	0	SCRN3	174971337	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.526000	0.81920	2.885000	0.99019	0.643000	0.83706	TCA		0.343	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2		NM_024583		18	96	0	0	0	0.008871	0	18	96		
TTN	7273	broad.mit.edu	37	2	179480041	179480041	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:179480041C>T	ENST00000591111.1	-	209	43932	c.43708G>A	c.(43708-43710)Gaa>Aaa	p.E14570K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7271K|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13643K|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000589042.1_Missense_Mutation_p.E16211K|TTN_ENST00000460472.2_Missense_Mutation_p.E7146K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7338K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14570	Fibronectin type-III 5. {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)			TACTTTGTTTCTGCAACAGGT	0.373																																						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.(40927-40929)GAA>AAA		titin isoform N2-A							111.0	107.0	108.0					2																	179480041		1849	4101	5950	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480041C>T	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.43708G>A	2.37:g.179480041C>T	ENSP00000465570:p.Glu14570Lys					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7338K|TTN_uc010zfi.1_Missense_Mutation_p.E7271K|TTN_uc010zfj.1_Missense_Mutation_p.E7146K	p.E13643K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		208	41151	-			14570					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.40927G>A		.	.	.	.	.	.	.	.	.	.	C	15.71	2.913643	0.52439	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.96	5.96	0.96718	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62417	0.2426	L	0.52905	1.665	0.58432	D	0.999996	B;B;B;B	0.31655	0.334;0.334;0.334;0.334	B;B;B;B	0.37888	0.153;0.153;0.26;0.26	T	0.62353	-0.6872	9	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	7146;7271;7338;14570	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	13643;7146;7338;7271;7146	ENSP00000343764:E13643K;ENSP00000434586:E7146K;ENSP00000340554:E7338K;ENSP00000352154:E7271K	ENSP00000340554:E7338K	E	-	1	0	TTN	179188286	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.770000	0.85390	2.826000	0.97356	0.655000	0.94253	GAA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		23	36	0	0	0	0.004656	0	23	36		
ANKAR	150709	broad.mit.edu	37	2	190593496	190593496	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:190593496G>A	ENST00000520309.1	+	15	3230	c.3142G>A	c.(3142-3144)Gct>Act	p.A1048T	ANKAR_ENST00000431575.2_Missense_Mutation_p.A977T|ANKAR_ENST00000313581.4_Missense_Mutation_p.A1048T|ANKAR_ENST00000438402.2_Missense_Mutation_p.A1048T|ANKAR_ENST00000281412.6_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1048						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TAGTACGATTGCTGAAGGCAC	0.373																																						uc002uqw.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2929-2931)GCT>ACT		ankyrin and armadillo repeat containing							147.0	135.0	139.0					2																	190593496		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190593496G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3142G>A	2.37:g.190593496G>A	ENSP00000427882:p.Ala1048Thr					ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.A144T	p.A977T	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		14	2929	+			1048					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2929G>A	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384449	0.25031	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000374838	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.07	4.15	0.48705	.	0.337577	0.23508	N	0.047424	T	0.26629	0.0651	L	0.51422	1.61	0.80722	D	1	B	0.15930	0.015	B	0.16289	0.015	T	0.05053	-1.0909	10	0.20519	T	0.43	-6.4484	11.1519	0.48464	0.0969:0.0:0.9031:0.0	.	124	E9PHS9	.	T	1048;1048;1048;977;124	ENSP00000427882:A1048T;ENSP00000313513:A1048T;ENSP00000397243:A1048T;ENSP00000393043:A977T	ENSP00000313513:A1048T	A	+	1	0	ANKAR	190301741	0.977000	0.34250	0.674000	0.29902	0.479000	0.33129	2.625000	0.46452	1.289000	0.44618	0.467000	0.42956	GCT		0.373	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3		NM_144708		55	28	0	0	0	0.01441	0	55	28		
MYO1B	4430	broad.mit.edu	37	2	192256914	192256914	+	Missense_Mutation	SNP	G	G	C	rs201068066		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:192256914G>C	ENST00000392318.3	+	19	2310	c.2063G>C	c.(2062-2064)cGa>cCa	p.R688P	MYO1B_ENST00000392316.1_Missense_Mutation_p.R688P|MYO1B_ENST00000339514.4_Missense_Mutation_p.R688P|MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000304164.4_Missense_Mutation_p.R688P	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	688	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ATATTCATCCGAAACCCAAGA	0.303																																						uc010fsg.2		NaN																	0				central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(2062-2064)CGA>CCA		myosin IB isoform 1							57.0	63.0	61.0					2																	192256914		2203	4298	6501	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192256914G>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2063G>C	2.37:g.192256914G>C	ENSP00000376132:p.Arg688Pro					MYO1B_uc002usq.2_Missense_Mutation_p.R688P|MYO1B_uc002usr.2_Missense_Mutation_p.R688P|MYO1B_uc002usu.2_5'UTR	p.R688P	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		19	2318	+			688			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2063G>C	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352630	0.82132	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91858	0.7423	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94165	0.7418	10	0.87932	D	0	.	19.8593	0.96777	0.0:0.0:1.0:0.0	.	688;688	O43795;O43795-2	MYO1B_HUMAN;.	P	688	ENSP00000341903:R688P;ENSP00000376132:R688P;ENSP00000306382:R688P;ENSP00000376130:R688P	ENSP00000306382:R688P	R	+	2	0	MYO1B	191965159	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.771000	0.85420	2.700000	0.92200	0.557000	0.71058	CGA		0.303	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1		NM_012223		12	49	0	0	0	0.004007	0	12	49		
DNAH7	56171	broad.mit.edu	37	2	196729276	196729276	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:196729276G>C	ENST00000312428.6	-	41	7203	c.7103C>G	c.(7102-7104)tCt>tGt	p.S2368C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2368	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATACCCCTTAGAGATTTCAAC	0.448																																						uc002utj.3		NaN																	0				skin(10)|ovary(2)	12						c.(7102-7104)TCT>TGT		dynein, axonemal, heavy chain 7							90.0	88.0	89.0					2																	196729276		1903	4113	6016	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729276G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7103C>G	2.37:g.196729276G>C	ENSP00000311273:p.Ser2368Cys						p.S2368C	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			41	7204	-			2368			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.7103C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101879	0.37048	.	.	ENSG00000118997	ENST00000312428	T	0.51574	0.7	5.07	5.07	0.68467	Dynein heavy chain, P-loop containing D4 domain (1);	0.252995	0.39985	N	0.001217	T	0.72771	0.3502	M	0.90369	3.11	0.80722	D	1	D	0.53312	0.959	P	0.60117	0.869	T	0.79371	-0.1831	10	0.87932	D	0	.	18.2236	0.89910	0.0:0.0:1.0:0.0	.	2368	Q8WXX0	DYH7_HUMAN	C	2368	ENSP00000311273:S2368C	ENSP00000311273:S2368C	S	-	2	0	DNAH7	196437521	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	6.384000	0.73177	2.636000	0.89361	0.557000	0.71058	TCT		0.448	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		9	70	0	0	0	0.013537	0	9	70		
CDK15	65061	broad.mit.edu	37	2	202744799	202744799	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:202744799A>C	ENST00000374598.4	+	12	1107	c.1107A>C	c.(1105-1107)aaA>aaC	p.K369N	CDK15_ENST00000260967.2_Missense_Mutation_p.K318N|CDK15_ENST00000434439.1_Missense_Mutation_p.K369N|CDK15_ENST00000410091.3_Missense_Mutation_p.K318N|CDK15_ENST00000450471.2_Missense_Mutation_p.K369N			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	369	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AGATGCTAAAAGGCTTTCCCA	0.542																																						uc002uyt.2		NaN																	0				breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.(1105-1107)AAA>AAC		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						79.0	74.0	76.0					2																	202744799		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202744799A>C	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1107A>C	2.37:g.202744799A>C	ENSP00000363726:p.Lys369Asn					CDK15_uc002uys.2_Missense_Mutation_p.K318N|CDK15_uc010ftn.1_Missense_Mutation_p.K318N|CDK15_uc002uyu.1_RNA	p.K369N	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			12	1156	+			369			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.1107A>C		.	.	.	.	.	.	.	.	.	.	A	13.95	2.389548	0.42410	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	6.06	-3.59	0.04583	.	0.260464	0.37669	N	0.001987	T	0.52403	0.1732	L	0.37850	1.14	0.40314	D	0.978757	D	0.58620	0.983	P	0.48089	0.566	T	0.55023	-0.8205	10	0.46703	T	0.11	-12.1718	12.6169	0.56582	0.5472:0.0:0.4528:0.0	.	369	F8W6H8	.	N	318;318;369;369;369	ENSP00000386901:K318N;ENSP00000260967:K318N;ENSP00000406472:K369N;ENSP00000412775:K369N;ENSP00000363726:K369N	ENSP00000260967:K318N	K	+	3	2	CDK15	202453044	0.979000	0.34478	0.906000	0.35671	0.387000	0.30353	0.230000	0.17852	-0.920000	0.03799	-0.256000	0.11100	AAA		0.542	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2				16	53	0	0	0	0.007413	0	16	53		
NBEAL1	65065	broad.mit.edu	37	2	204078256	204078256	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:204078256C>G	ENST00000449802.1	+	54	8196	c.7863C>G	c.(7861-7863)atC>atG	p.I2621M		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2621										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATCTCAGCATCAACCCATTAG	0.328																																						uc002uzt.3		NaN																	0				ovary(1)|skin(1)	2						c.(7861-7863)ATC>ATG		neurobeachin-like 1 isoform 3							135.0	122.0	126.0					2																	204078256		1858	4099	5957	SO:0001583	missense	65065						binding	g.chr2:204078256C>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7863C>G	2.37:g.204078256C>G	ENSP00000399903:p.Ile2621Met					NBEAL1_uc002uzs.3_Missense_Mutation_p.I1262M|NBEAL1_uc002uzu.2_Missense_Mutation_p.I116M	p.I2621M	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			54	8196	+			2621					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7863C>G	CCDS46495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.47|11.47	1.647510|1.647510	0.29246|0.29246	.|.	.|.	ENSG00000144426|ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576|ENST00000434469	T;T|.	0.28666|.	5.04;1.6|.	5.61|5.61	3.8|3.8	0.43715|0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.545296|.	0.22230|.	N|.	0.062824|.	T|.	0.36524|.	0.0970|.	L|L	0.32530|0.32530	0.975|0.975	0.27058|0.27058	N|N	0.963621|0.963621	B;B;B|.	0.11235|.	0.004;0.0;0.0|.	B;B;B|.	0.16289|.	0.015;0.002;0.001|.	T|.	0.19257|.	-1.0311|.	10|.	0.34782|.	T|.	0.22|.	.|.	11.1331|11.1331	0.48358|0.48358	0.0:0.8016:0.1291:0.0693|0.0:0.8016:0.1291:0.0693	.|.	1331;2621;2610|.	D1MPS9;Q6ZS30;C9JGK5|.	.;NBEL1_HUMAN;.|.	M|X	2621;2531;636|149	ENSP00000399903:I2621M;ENSP00000388466:I636M|.	ENSP00000344985:I2531M|.	I|S	+|+	3|2	3|0	NBEAL1|NBEAL1	203786501|203786501	0.987000|0.987000	0.35691|0.35691	0.160000|0.160000	0.22671|0.22671	0.970000|0.970000	0.65996|0.65996	1.283000|1.283000	0.33237|0.33237	0.705000|0.705000	0.31890|0.31890	0.650000|0.650000	0.86243|0.86243	ATC|TCA		0.328	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4				14	97	0	0	0	0.003163	0	14	97		
CYP20A1	57404	broad.mit.edu	37	2	204154576	204154576	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:204154576G>A	ENST00000356079.4	+	10	1183	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.D362N	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	354						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						AGGAAAAATTGACCGATTTAT	0.333																																						uc002uzv.3		NaN																	0					0						c.(1060-1062)GAC>AAC		cytochrome P450, family 20, subfamily A,							53.0	50.0	51.0					2																	204154576		2203	4300	6503	SO:0001583	missense	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204154576G>A	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1060G>A	2.37:g.204154576G>A	ENSP00000348380:p.Asp354Asn					CYP20A1_uc002uzx.3_Missense_Mutation_p.D252N|CYP20A1_uc010zif.1_Missense_Mutation_p.D362N|CYP20A1_uc002uzy.3_Missense_Mutation_p.D252N|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Missense_Mutation_p.D84N	p.D354N	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN			10	1682	+			354					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.1060G>A	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232810	0.39498	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815	T;T	0.29917	1.55;1.55	5.6	3.8	0.43715	.	0.186669	0.56097	N	0.000037	T	0.33323	0.0859	L	0.40543	1.245	0.46521	D	0.999084	B;P	0.40619	0.018;0.724	B;P	0.52031	0.063;0.688	T	0.05468	-1.0883	10	0.06625	T	0.88	-4.8633	12.0954	0.53752	0.1384:0.0:0.8616:0.0	.	362;354	E9PHG5;Q6UW02	.;CP20A_HUMAN	N	354;327;362	ENSP00000348380:D354N;ENSP00000407860:D362N	ENSP00000348380:D354N	D	+	1	0	CYP20A1	203862821	1.000000	0.71417	0.203000	0.23512	0.993000	0.82548	5.151000	0.64875	0.751000	0.32900	0.580000	0.79431	GAC		0.333	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3		NM_020674		42	23	0	0	0	0.00874	0	42	23		
RAPH1	65059	broad.mit.edu	37	2	204304271	204304271	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:204304271C>G	ENST00000319170.5	-	14	3941	c.3642G>C	c.(3640-3642)caG>caC	p.Q1214H	RAPH1_ENST00000374493.3_Missense_Mutation_p.Q1266H|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1214					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AACCAGCCTTCTGTTGATCAG	0.562																																						uc002vad.2		NaN																	0				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(3640-3642)CAG>CAC		Ras association and pleckstrin homology domains							91.0	82.0	85.0					2																	204304271		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204304271C>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3642G>C	2.37:g.204304271C>G	ENSP00000316543:p.Gln1214His						p.Q1214H	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			14	3867	-			1214					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.3642G>C	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406733	0.42715	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.56444	0.46;0.48	5.18	5.18	0.71444	.	0.292903	0.19323	U	0.117090	T	0.47414	0.1444	L	0.27053	0.805	0.80722	D	1	P	0.35033	0.481	B	0.43623	0.425	T	0.47045	-0.9147	10	0.45353	T	0.12	-6.3294	12.1003	0.53780	0.0:0.9206:0.0:0.0794	.	1214	Q70E73	RAPH1_HUMAN	H	1214;1266	ENSP00000316543:Q1214H;ENSP00000363617:Q1266H	ENSP00000316543:Q1214H	Q	-	3	2	RAPH1	204012516	1.000000	0.71417	0.999000	0.59377	0.808000	0.45660	2.080000	0.41586	2.405000	0.81733	0.563000	0.77884	CAG		0.562	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2		NM_025252		6	33	0	0	0	0.001168	0	6	33		
INO80D	54891	broad.mit.edu	37	2	206869295	206869295	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:206869295C>T	ENST00000403263.1	-	11	3285	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GCCATTAGTTCAGCAGAAGGC	0.597																																						uc002vaz.3		NaN																	0				ovary(1)	1						c.(2881-2883)GAA>AAA		INO80 complex subunit D							53.0	58.0	56.0					2																	206869295		2083	4220	6303	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869295C>T		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2881G>A	2.37:g.206869295C>T	ENSP00000384198:p.Glu961Lys						p.E961K	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			11	3286	-			Error:Variant_position_missing_in_Q53TQ3_after_alignment					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.2881G>A	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688383	0.48097	.	.	ENSG00000114933	ENST00000403263	T	0.35605	1.3	5.84	4.96	0.65561	.	.	.	.	.	T	0.26882	0.0658	N	0.14661	0.345	0.44754	D	0.997751	B	0.13594	0.008	B	0.18561	0.022	T	0.04053	-1.0981	9	0.62326	D	0.03	.	16.9641	0.86281	0.0:0.8723:0.1277:0.0	.	961	Q53TQ3-2	.	K	961	ENSP00000384198:E961K	ENSP00000384198:E961K	E	-	1	0	INO80D	206577540	1.000000	0.71417	0.999000	0.59377	0.779000	0.44077	6.649000	0.74364	1.452000	0.47756	-0.175000	0.13238	GAA		0.597	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1		NM_017759		9	11	0	0	0	0.010729	0	9	11		
ADAM23	8745	broad.mit.edu	37	2	207452091	207452091	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:207452091C>G	ENST00000264377.3	+	19	2108	c.1780C>G	c.(1780-1782)Caa>Gaa	p.Q594E	ADAM23_ENST00000374416.1_Missense_Mutation_p.Q594E|ADAM23_ENST00000374415.3_Missense_Mutation_p.Q594E	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	594	Cys-rich.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGCATGCAATCAAAATCAGGT	0.289																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2		NaN																	0				skin(2)|ovary(1)	3						c.(1780-1782)CAA>GAA		ADAM metallopeptidase domain 23 preproprotein							66.0	69.0	68.0					2																	207452091		2203	4297	6500	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207452091C>G	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1780C>G	2.37:g.207452091C>G	ENSP00000264377:p.Gln594Glu					ADAM23_uc010ziv.1_RNA	p.Q594E	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	19	2003	+			594			Cys-rich.|Extracellular (Potential).		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1780C>G	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	4.411	0.076024	0.08485	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.20200	2.09;2.09;2.09	5.36	4.25	0.50352	ADAM, cysteine-rich (2);	0.236387	0.29783	N	0.011206	T	0.08935	0.0221	N	0.04162	-0.26	0.26733	N	0.970556	B	0.22003	0.063	B	0.29440	0.102	T	0.13150	-1.0520	10	0.33940	T	0.23	.	3.9387	0.09316	0.0:0.6667:0.0:0.3332	.	594	O75077	ADA23_HUMAN	E	594;594;488;594	ENSP00000264377:Q594E;ENSP00000363537:Q594E;ENSP00000363536:Q594E	ENSP00000264377:Q594E	Q	+	1	0	ADAM23	207160336	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	1.871000	0.39539	2.672000	0.90937	0.591000	0.81541	CAA		0.289	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2		NM_003812		10	47	0	0	0	0.013537	0	10	47		
IDH1	3417	broad.mit.edu	37	2	209108167	209108167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:209108167G>A	ENST00000415913.1	-	6	1063	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	IDH1_ENST00000345146.2_Nonsense_Mutation_p.Q228*|IDH1_ENST00000446179.1_Nonsense_Mutation_p.Q228*	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	228					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TATATCTCCTGAAAGATGTCT	0.353			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2		NaN		Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		0				central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						c.(682-684)CAG>TAG		isocitrate dehydrogenase 1 (NADP+), soluble							77.0	80.0	79.0					2																	209108167		2203	4300	6503	SO:0001587	stop_gained	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209108167G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.682C>T	2.37:g.209108167G>A	ENSP00000390265:p.Gln228*					IDH1_uc002vct.2_Nonsense_Mutation_p.Q228*|IDH1_uc002vcu.2_Nonsense_Mutation_p.Q228*	p.Q228*	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	6	928	-			228					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Nonsense_Mutation	SNP	ENST00000415913.1	37	c.682C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	41	8.684809	0.98914	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.5274	19.9766	0.97312	0.0:0.0:1.0:0.0	.	.	.	.	X	228	.	ENSP00000260985:Q228X	Q	-	1	0	IDH1	208816412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.808000	0.99193	2.739000	0.93911	0.555000	0.69702	CAG		0.353	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1				25	39	0	0	0	0.005443	0	25	39		
CPS1	1373	broad.mit.edu	37	2	211513262	211513262	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:211513262G>A	ENST00000233072.5	+	27	3598	c.3402G>A	c.(3400-3402)ttG>ttA	p.L1134L	CPS1_ENST00000430249.2_Silent_p.L1140L|CPS1_ENST00000451903.2_Silent_p.L683L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1134	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCTATGTTTTGAGGTAACACT	0.348																																						uc002vee.3		NaN																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3400-3402)TTG>TTA		carbamoyl-phosphate synthetase 1 isoform b							140.0	133.0	135.0					2																	211513262		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211513262G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3402G>A	2.37:g.211513262G>A						CPS1_uc010fur.2_Silent_p.L1140L|CPS1_uc010fus.2_Silent_p.L683L	p.L1134L	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	27	3534	+			1134			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.3402G>A	CCDS2393.1																																																																																				0.348	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5				9	73	0	0	0	0.008291	0	9	73		
FN1	2335	broad.mit.edu	37	2	216226285	216226285	+	Missense_Mutation	SNP	C	C	T	rs369527578	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:216226285C>T	ENST00000359671.1	-	45	7419	c.7154G>A	c.(7153-7155)cGa>cAa	p.R2385Q	FN1_ENST00000354785.4_Missense_Mutation_p.R2476Q|FN1_ENST00000323926.6_Missense_Mutation_p.R2445Q|FN1_ENST00000336916.4_Missense_Mutation_p.R2354Q|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.R2239Q|FN1_ENST00000345488.5_Missense_Mutation_p.R2183Q|FN1_ENST00000357867.4_Missense_Mutation_p.R2175Q|FN1_ENST00000446046.1_Missense_Mutation_p.R2329Q|FN1_ENST00000356005.4_Missense_Mutation_p.R2295Q|FN1_ENST00000432072.2_Missense_Mutation_p.R2266Q|FN1_ENST00000346544.3_Missense_Mutation_p.R2210Q|FN1_ENST00000443816.1_Missense_Mutation_p.R2264Q			P02751	FINC_HUMAN	fibronectin 1	2385					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GATTTACTCTCGGGAATCTTC	0.408													C|||	4	0.000798722	0.003	0.0	5008	,	,		17913	0.0		0.0	False		,,,				2504	0.0					uc002vfa.2		NaN																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(7426-7428)CGA>CAA		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	150.0	156.0	154.0		7061,6524,6884,6986,7427	5.3	1.0	2		154	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2354/2356,2175/2177,2295/2297,2329/2331,2476/2478	216226285	1,13005	2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216226285C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.7154G>A	2.37:g.216226285C>T	ENSP00000352696:p.Arg2385Gln					FN1_uc002vfb.2_Missense_Mutation_p.R2264Q|FN1_uc002vfc.2_Missense_Mutation_p.R2239Q|FN1_uc002vfd.2_Missense_Mutation_p.R2420Q|FN1_uc002vfe.2_Missense_Mutation_p.R2354Q|FN1_uc002vff.2_Missense_Mutation_p.R2329Q|FN1_uc002vfg.2_Missense_Mutation_p.R2295Q|FN1_uc002vfh.2_Missense_Mutation_p.R2175Q|FN1_uc002vfi.2_Missense_Mutation_p.R2445Q|FN1_uc002vfj.2_Missense_Mutation_p.R2266Q|FN1_uc002vez.2_Missense_Mutation_p.R639Q|FN1_uc010zjp.1_Missense_Mutation_p.R1013Q	p.R2476Q	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	46	7693	-		Renal(323;0.127)	2385					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.7427G>A		.	.	.	.	.	.	.	.	.	.	C	18.37	3.609140	0.66558	2.27E-4	0.0	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;1.69;1.9;0.5;2.18;1.85;1.8;1.69;1.64;1.14;0.47;1.21;0.59	6.16	5.27	0.74061	.	0.601222	0.15711	N	0.248405	T	0.63390	0.2507	L	0.45137	1.4	0.80722	D	1	B;B;B;D;P;P;D;D;D;B;P	0.71674	0.239;0.024;0.239;0.998;0.46;0.55;0.997;0.998;0.998;0.45;0.46	B;B;B;D;B;B;D;D;D;B;B	0.78314	0.014;0.007;0.014;0.991;0.126;0.08;0.98;0.991;0.991;0.166;0.079	T	0.62020	-0.6942	10	0.54805	T	0.06	.	10.0374	0.42137	0.1387:0.7936:0.0:0.0677	.	2266;2445;2175;2295;2329;2354;2386;2239;2264;2476;2385	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	Q	2239;2445;2354;2175;2476;2386;2385;2210;2183;2329;2264;2266;2295;1102	ENSP00000394423:R2239Q;ENSP00000323534:R2445Q;ENSP00000338200:R2354Q;ENSP00000350534:R2175Q;ENSP00000346839:R2476Q;ENSP00000352696:R2385Q;ENSP00000265312:R2210Q;ENSP00000273049:R2183Q;ENSP00000410422:R2329Q;ENSP00000415018:R2264Q;ENSP00000399538:R2266Q;ENSP00000348285:R2295Q;ENSP00000416139:R1102Q	ENSP00000265313:R2386Q	R	-	2	0	FN1	215934530	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	2.579000	0.46059	1.557000	0.49525	0.650000	0.86243	CGA		0.408	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476		26	152	0	0	0	0.008361	0	26	152		
DOCK10	55619	broad.mit.edu	37	2	225751218	225751218	+	Silent	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:225751218T>A	ENST00000258390.7	-	5	514	c.447A>T	c.(445-447)tcA>tcT	p.S149S	DOCK10_ENST00000409592.3_Silent_p.S143S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	149					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAAAGGAATGTGAAGGAAGCT	0.333																																						uc010fwz.1		NaN																	0				ovary(2)	2						c.(445-447)TCA>TCT		dedicator of cytokinesis 10							101.0	95.0	97.0					2																	225751218		1848	4074	5922	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225751218T>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.447A>T	2.37:g.225751218T>A						DOCK10_uc002vob.2_Silent_p.S143S|DOCK10_uc002vod.1_Silent_p.S149S	p.S149S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	5	686	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	149					B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.447A>T	CCDS46528.1																																																																																				0.333	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1				10	5	0	0	0	0.010729	0	10	5		
COL4A3	1285	broad.mit.edu	37	2	228157990	228157990	+	Silent	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:228157990A>T	ENST00000396578.3	+	38	3456	c.3294A>T	c.(3292-3294)ggA>ggT	p.G1098G	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1098	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCCTGCTGGACCTGAGGGAG	0.527																																						uc002vom.1		NaN																	0				skin(2)|ovary(1)	3						c.(3292-3294)GGA>GGT		alpha 3 type IV collagen isoform 1 precursor							48.0	53.0	52.0					2																	228157990		1849	4085	5934	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228157990A>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3294A>T	2.37:g.228157990A>T						COL4A3_uc002von.1_Silent_p.G1098G|COL4A3_uc002voo.1_Silent_p.G1098G|COL4A3_uc002vop.1_Silent_p.G1098G|uc002voq.1_Intron|uc002vor.1_Intron	p.G1098G	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	38	3456	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1098			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.3294A>T	CCDS42829.1																																																																																				0.527	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091		3	29	0	0	0	0.004672	0	3	29		
RAMP1	10267	broad.mit.edu	37	2	238820246	238820246	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:238820246G>T	ENST00000254661.4	+	3	400	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	RAMP1_ENST00000404910.2_Missense_Mutation_p.D68Y|RAMP1_ENST00000409726.1_Missense_Mutation_p.D68Y|RAMP1_ENST00000403885.1_Missense_Mutation_p.D68Y	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	90					angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|intracellular protein transport (GO:0006886)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein glycosylation (GO:0060050)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcitonin receptor activity (GO:0004948)|calcitonin receptor binding (GO:0031716)|coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	TGCAGAGGTGGACAGGTTCTT	0.642																																					NSCLC(177;211 2889 43936 50767)	uc002vxj.2		NaN																	0					0						c.(268-270)GAC>TAC		receptor activity-modifying protein 1 precursor	Pramlintide(DB01278)						54.0	47.0	49.0					2																	238820246		2203	4300	6503	SO:0001583	missense	10267				intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity	g.chr2:238820246G>T	AJ001014	CCDS2522.1	2q36-q37.1	2008-02-05	2006-11-21		ENSG00000132329	ENSG00000132329		"""Receptor (G protein-coupled) activity modifying proteins"""	9843	protein-coding gene	gene with protein product		605153	"""receptor activity modifying protein 1"", ""receptor (calcitonin) activity modifying protein 1"""				Standard	NM_005855		Approved		uc002vxj.3	O60894	OTTHUMG00000133337	ENST00000254661.4:c.268G>T	2.37:g.238820246G>T	ENSP00000254661:p.Asp90Tyr						p.D90Y	NM_005855	NP_005846	O60894	RAMP1_HUMAN		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	3	400	+		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	90			Extracellular (Potential).		Q6FGS5	Missense_Mutation	SNP	ENST00000254661.4	37	c.268G>T	CCDS2522.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290049	0.59976	.	.	ENSG00000132329	ENST00000404910;ENST00000254661;ENST00000409726;ENST00000403885	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.65	0.679	0.17975	.	0.232814	0.49305	D	0.000144	T	0.61652	0.2364	M	0.78049	2.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.59799	-0.7386	10	0.87932	D	0	-39.8731	6.0386	0.19722	0.2612:0.1421:0.5966:0.0	.	90	O60894	RAMP1_HUMAN	Y	68;90;68;68	ENSP00000384688:D68Y;ENSP00000254661:D90Y;ENSP00000386720:D68Y;ENSP00000386046:D68Y	ENSP00000254661:D90Y	D	+	1	0	RAMP1	238484985	1.000000	0.71417	0.633000	0.29310	0.779000	0.44077	4.400000	0.59709	0.151000	0.19162	0.650000	0.86243	GAC		0.642	RAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257166.2		NM_005855		38	55	1	0	4.01765e-15	0.009718	4.26278e-15	38	55		
ASB1	51665	broad.mit.edu	37	2	239353166	239353166	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:239353166C>T	ENST00000264607.4	+	4	925	c.678C>T	c.(676-678)gtC>gtT	p.V226V	ASB1_ENST00000409297.1_Silent_p.V125V	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	226					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		ATGGTCCTGTCAACACACAGG	0.597																																						uc002vyg.2		NaN																	0					0						c.(676-678)GTC>GTT		ankyrin repeat and SOCS box-containing protein							75.0	68.0	70.0					2																	239353166		2203	4300	6503	SO:0001819	synonymous_variant	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239353166C>T	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.678C>T	2.37:g.239353166C>T							p.V226V	NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	4	764	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	226					A6NL50|Q4ZG29|Q9ULS4	Silent	SNP	ENST00000264607.4	37	c.678C>T	CCDS33416.1																																																																																				0.597	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1		NM_001040445		6	99	0	0	0	0.00308	0	6	99		
CSNK2A1	1457	broad.mit.edu	37	20	470507	470507	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:470507C>A	ENST00000217244.3	-	10	1015	c.640G>T	c.(640-642)Gat>Tat	p.D214Y	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D214Y|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.D78Y|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D214Y	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CTCCACATATCCAAACTATAA	0.323																																						uc002wdw.1		NaN																	0				ovary(1)	1						c.(640-642)GAT>TAT		casein kinase II alpha 1 subunit isoform a							91.0	80.0	84.0					20																	470507		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:470507C>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.640G>T	20.37:g.470507C>A	ENSP00000217244:p.Asp214Tyr					CSNK2A1_uc002wdx.1_Missense_Mutation_p.D214Y|CSNK2A1_uc002wdy.1_Missense_Mutation_p.D78Y	p.D214Y	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		10	1033	-		Breast(17;0.231)	214			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.640G>T	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636593	0.87760	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.79141	0.62;0.62;0.62;-1.24	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043330	0.85682	D	0.000000	D	0.94128	0.8117	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96719	0.9531	10	0.87932	D	0	-3.8043	17.7447	0.88416	0.0:1.0:0.0:0.0	.	214	P68400	CSK21_HUMAN	Y	214;214;214;214;78	ENSP00000383086:D214Y;ENSP00000339247:D214Y;ENSP00000217244:D214Y;ENSP00000383076:D78Y	ENSP00000217244:D214Y	D	-	1	0	CSNK2A1	418507	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.576000	0.82467	2.741000	0.93983	0.585000	0.79938	GAT		0.323	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1		NM_001895		21	51	1	0	3.62473e-10	0.012319	3.78394e-10	21	51		
SRXN1	140809	broad.mit.edu	37	20	629543	629543	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:629543G>T	ENST00000381962.3	-	2	413	c.229C>A	c.(229-231)Ccc>Acc	p.P77T	RP5-850E9.3_ENST00000488788.2_Missense_Mutation_p.A81D	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	77					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						TCGATGGGGGGCACGCTGTCT	0.577																																						uc002wea.2		NaN																	0				ovary(1)	1						c.(229-231)CCC>ACC		sulfiredoxin 1 homolog							34.0	34.0	34.0					20																	629543		2203	4300	6503	SO:0001583	missense	140809				response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity	g.chr20:629543G>T	AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.229C>A	20.37:g.629543G>T	ENSP00000371388:p.Pro77Thr					SRXN1_uc002web.2_RNA	p.P77T	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN			2	290	-			77					B2R543|Q8NDM3|Q96AK6	Missense_Mutation	SNP	ENST00000381962.3	37	c.229C>A	CCDS13005.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298915	0.81025	.	.	ENSG00000172070	ENST00000381962	.	.	.	5.7	5.7	0.88788	ParB-like nuclease (1);	0.000000	0.64402	U	0.000006	T	0.79563	0.4467	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.80127	-0.1512	9	0.52906	T	0.07	-25.1988	16.5718	0.84613	0.0:0.0:1.0:0.0	.	77	Q9BYN0	SRXN1_HUMAN	T	77	.	ENSP00000371388:P77T	P	-	1	0	SRXN1	577543	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.892000	0.92491	2.703000	0.92315	0.655000	0.94253	CCC		0.577	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2		NM_080725		9	40	1	0	2.17888e-05	0.006214	2.23531e-05	9	40		
VPS16	64601	broad.mit.edu	37	20	2844876	2844876	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:2844876A>G	ENST00000380445.3	+	17	1735	c.1663A>G	c.(1663-1665)Atg>Gtg	p.M555V	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.M411V|VPS16_ENST00000380443.3_Missense_Mutation_p.M241V|PTPRA_ENST00000380393.3_5'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	555					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TCTCCTAAAGATGAAGAGGAG	0.617																																						uc002whe.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1663-1665)ATG>GTG		vacuolar protein sorting 16 isoform 1							49.0	49.0	49.0					20																	2844876		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2844876A>G	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1663A>G	20.37:g.2844876A>G	ENSP00000369810:p.Met555Val					VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Missense_Mutation_p.M411V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.M241V|VPS16_uc002whi.2_Missense_Mutation_p.M39V	p.M555V	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			17	1711	+			555					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.1663A>G	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179559	0.57800	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.51325	0.71;0.71;0.71	5.2	5.2	0.72013	Vps16, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	M	0.85777	2.775	0.80722	D	1	B;P;B;P	0.39216	0.409;0.664;0.428;0.64	B;B;B;B	0.37888	0.2;0.26;0.216;0.228	T	0.63563	-0.6609	10	0.72032	D	0.01	-32.9375	13.0607	0.59005	1.0:0.0:0.0:0.0	.	31;241;411;555	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	V	555;411;241	ENSP00000369810:M555V;ENSP00000369836:M411V;ENSP00000369808:M241V	ENSP00000369808:M241V	M	+	1	0	VPS16	2792876	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.252000	0.89840	2.185000	0.69588	0.459000	0.35465	ATG		0.617	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2		NM_022575		26	86	0	0	0	0.012213	0	26	86		
PANK2	80025	broad.mit.edu	37	20	3869809	3869809	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:3869809C>T	ENST00000316562.4	+	1	68	c.62C>T	c.(61-63)tCt>tTt	p.S21F	PANK2_ENST00000497424.1_Intron|PANK2_ENST00000610179.1_5'Flank|RP11-119B16.2_ENST00000451507.1_RNA	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	21					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCACTCTCTTCTGGGCTACAC	0.677																																						uc002wkc.2		NaN																	0					0						c.(61-63)TCT>TTT		pantothenate kinase 2 isoform 1 preproprotein							24.0	19.0	21.0					20																	3869809		2198	4295	6493	SO:0001583	missense	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3869809C>T	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.62C>T	20.37:g.3869809C>T	ENSP00000313377:p.Ser21Phe					uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank	p.S21F	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN			1	68	+			21					B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	c.62C>T	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	C	8.727	0.915794	0.17907	.	.	ENSG00000125779	ENST00000316562	D	0.97209	-4.29	4.57	-5.45	0.02616	.	1.206400	0.06131	N	0.670602	D	0.88573	0.6473	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79992	-0.1569	10	0.33141	T	0.24	.	1.7194	0.02908	0.3263:0.1865:0.3341:0.1531	.	21	Q9BZ23	PANK2_HUMAN	F	21	ENSP00000313377:S21F	ENSP00000313377:S21F	S	+	2	0	PANK2	3817809	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.109000	0.10840	-1.015000	0.03375	-0.137000	0.14449	TCT		0.677	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2		NM_024960		19	14	0	0	0	0.006122	0	19	14		
TRMT6	51605	broad.mit.edu	37	20	5924896	5924896	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:5924896T>A	ENST00000203001.2	-	4	500	c.370A>T	c.(370-372)Ata>Tta	p.I124L	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	124					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TGCTGAACTATTTCCTATAAG	0.308																																						uc002wmh.1		NaN																	0				pancreas(1)	1						c.(370-372)ATA>TTA		tRNA methyltransferase 6							21.0	22.0	22.0					20																	5924896		2193	4281	6474	SO:0001583	missense	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5924896T>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.370A>T	20.37:g.5924896T>A	ENSP00000203001:p.Ile124Leu					TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_RNA	p.I124L	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN			4	492	-			124					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	c.370A>T	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029965	0.75504	.	.	ENSG00000089195	ENST00000203001	T	0.34667	1.35	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.54863	1.705	0.80722	D	1	P	0.49447	0.924	P	0.59761	0.863	T	0.43750	-0.9372	10	0.35671	T	0.21	-29.9047	16.3127	0.82898	0.0:0.0:0.0:1.0	.	124	Q9UJA5	TRM6_HUMAN	L	124	ENSP00000203001:I124L	ENSP00000203001:I124L	I	-	1	0	TRMT6	5872896	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.513000	0.81739	2.246000	0.74042	0.533000	0.62120	ATA		0.308	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2				12	17	0	0	0	0.003163	0	12	17		
PLCB4	5332	broad.mit.edu	37	20	9288501	9288501	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:9288501C>T	ENST00000378493.1	+	1	55	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	PLCB4_ENST00000334005.3_Missense_Mutation_p.P14S|PLCB4_ENST00000414679.2_Missense_Mutation_p.P14S|PLCB4_ENST00000278655.4_Missense_Mutation_p.P14S|PLCB4_ENST00000378473.3_Missense_Mutation_p.P14S|PLCB4_ENST00000378501.2_Missense_Mutation_p.P14S|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	14					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAGGAAGTTCCCTCCTTTTT	0.299																																						uc002wnf.2		NaN																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(40-42)CCC>TCC		phospholipase C beta 4 isoform b							66.0	61.0	63.0					20																	9288501		2203	4298	6501	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9288501C>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.40C>T	20.37:g.9288501C>T	ENSP00000367754:p.Pro14Ser					PLCB4_uc010gbw.1_Missense_Mutation_p.P14S|PLCB4_uc010gbx.2_Missense_Mutation_p.P14S|PLCB4_uc002wne.2_Missense_Mutation_p.P14S	p.P14S	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			3	176	+			14					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.40C>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207455	0.58343	.	.	ENSG00000101333	ENST00000407043;ENST00000441846;ENST00000334005;ENST00000378473;ENST00000437503;ENST00000416836;ENST00000278655;ENST00000378493;ENST00000378501	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.87	3.75	0.43078	Pleckstrin homology-type (1);	0.104023	0.64402	D	0.000003	T	0.53012	0.1770	L	0.45581	1.43	0.48975	D	0.999732	D;D;D	0.89917	0.997;0.993;1.0	P;D;D	0.74348	0.895;0.968;0.983	T	0.50759	-0.8790	10	0.42905	T	0.14	.	10.5477	0.45070	0.0:0.7971:0.0:0.2029	.	14;14;14	E2QRH8;Q15147;Q15147-4	.;PLCB4_HUMAN;.	S	14	ENSP00000385805:P14S;ENSP00000412982:P14S;ENSP00000334105:P14S;ENSP00000367734:P14S;ENSP00000391614:P14S;ENSP00000395753:P14S;ENSP00000278655:P14S;ENSP00000367754:P14S;ENSP00000367762:P14S	ENSP00000278655:P14S	P	+	1	0	PLCB4	9236501	0.979000	0.34478	0.994000	0.49952	0.998000	0.95712	2.326000	0.43849	1.496000	0.48567	0.655000	0.94253	CCC		0.299	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2				12	28	0	0	0	0.004007	0	12	28		
CRNKL1	51340	broad.mit.edu	37	20	20023021	20023021	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:20023021C>T	ENST00000377340.2	-	9	1626	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R520H|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R371H	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	532	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ATAAATGTAGCGCTTCCAGTG	0.448																																						uc002wrs.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1594-1596)CGC>CAC		crooked neck-like 1 protein							150.0	139.0	142.0					20																	20023021		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20023021C>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1595G>A	20.37:g.20023021C>T	ENSP00000366557:p.Arg532His						p.R532H	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			9	1627	-			532			HAT 9.		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.1595G>A	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	36	5.747519	0.96882	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.35973	1.28;1.28;1.28	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.73265	0.3565	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.81551	-0.0881	10	0.87932	D	0	-9.686	20.3312	0.98718	0.0:1.0:0.0:0.0	.	532	Q9BZJ0	CRNL1_HUMAN	H	520;532;371	ENSP00000366544:R520H;ENSP00000366557:R532H;ENSP00000440733:R371H	ENSP00000366544:R520H	R	-	2	0	CRNKL1	19971021	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.818000	0.86416	2.797000	0.96272	0.655000	0.94253	CGC		0.448	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1				48	75	0	0	0	0.01441	0	48	75		
ABHD12	26090	broad.mit.edu	37	20	25297683	25297683	+	Splice_Site	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:25297683C>A	ENST00000339157.5	-	5	846		c.e5+1		ABHD12_ENST00000376542.3_Splice_Site	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12						adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CCTGCACTCACCTTGTAAAGC	0.547																																						uc002wus.1		NaN																	0				skin(1)	1						c.e5+1		abhydrolase domain containing 12 isoform a							73.0	63.0	67.0					20																	25297683		2203	4300	6503	SO:0001630	splice_region_variant	26090					integral to membrane	acylglycerol lipase activity	g.chr20:25297683C>A	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.573+1G>T	20.37:g.25297683C>A						ABHD12_uc002wuq.2_Splice_Site_p.K191_splice|ABHD12_uc002wur.2_Splice_Site_p.K191_splice|ABHD12_uc002wut.1_Splice_Site_p.K191_splice|ABHD12_uc002wuu.1_Splice_Site	p.K191_splice	NM_001042472	NP_001035937	Q8N2K0	ABD12_HUMAN			5	711	-								A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Splice_Site	SNP	ENST00000339157.5	37	c.573_splice	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782831	0.70222	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543;ENST00000450393	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4991	0.84253	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABHD12	25245683	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.313000	0.72844	2.303000	0.77524	0.462000	0.41574	.		0.547	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2		NM_015600	Intron	31	55	1	0	2.40579e-17	0.00623	2.57171e-17	31	55		
XKR7	343702	broad.mit.edu	37	20	30584822	30584822	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:30584822C>T	ENST00000562532.2	+	3	1476	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	434						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCATGTGTGTCTACTACTGTC	0.587																																						uc002wxe.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1300-1302)GTC>GTT		XK, Kell blood group complex subunit-related							98.0	94.0	96.0					20																	30584822		2203	4300	6503	SO:0001819	synonymous_variant	343702					integral to membrane		g.chr20:30584822C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1302C>T	20.37:g.30584822C>T							p.V434V	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1476	+			434			Helical; (Potential).		Q9NUG5	Silent	SNP	ENST00000562532.2	37	c.1302C>T	CCDS33459.1																																																																																				0.587	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3		NM_001011718		25	103	0	0	0	0.00632	0	25	103		
KIF3B	9371	broad.mit.edu	37	20	30897794	30897794	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:30897794C>T	ENST00000375712.3	+	2	381	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	72	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCAGTTTGAACTGTACGATGA	0.498																																						uc002wxq.2		NaN																	0				central_nervous_system(3)|ovary(2)	5						c.(214-216)CTG>TTG		kinesin family member 3B							161.0	140.0	147.0					20																	30897794		2203	4300	6503	SO:0001819	synonymous_variant	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30897794C>T	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.214C>T	20.37:g.30897794C>T						KIF3B_uc010ztv.1_Silent_p.L72L|KIF3B_uc010ztw.1_Silent_p.L72L	p.L72L	NM_004798	NP_004789	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	381	+			72			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Silent	SNP	ENST00000375712.3	37	c.214C>T	CCDS13200.1																																																																																				0.498	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1		NM_004798		8	81	0	0	0	0.010729	0	8	81		
TOMM34	10953	broad.mit.edu	37	20	43580587	43580587	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:43580587G>A	ENST00000372813.3	-	4	589	c.437C>T	c.(436-438)tCa>tTa	p.S146L	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	146					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				CAAGGGGATTGAGGGCAGCTT	0.527																																						uc002xmy.2		NaN																	0					0						c.(436-438)TCA>TTA		translocase of outer mitochondrial membrane 34							108.0	92.0	98.0					20																	43580587		2203	4300	6503	SO:0001583	missense	10953				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	g.chr20:43580587G>A	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.437C>T	20.37:g.43580587G>A	ENSP00000361900:p.Ser146Leu					PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	p.S146L	NM_006809	NP_006800	Q15785	TOM34_HUMAN			4	577	-		Myeloproliferative disorder(115;0.0122)	146					Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	ENST00000372813.3	37	c.437C>T	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784671	0.49997	.	.	ENSG00000025772	ENST00000372813	T	0.78003	-1.14	5.28	4.33	0.51752	.	0.492312	0.22808	N	0.055394	T	0.69504	0.3118	L	0.46157	1.445	0.23089	N	0.998313	B	0.02656	0.0	B	0.04013	0.001	T	0.55431	-0.8142	10	0.23302	T	0.38	-9.1984	12.1545	0.54068	0.0796:0.0:0.9204:0.0	.	146	Q15785	TOM34_HUMAN	L	146	ENSP00000361900:S146L	ENSP00000361900:S146L	S	-	2	0	TOMM34	43014001	0.997000	0.39634	0.347000	0.25668	0.821000	0.46438	2.980000	0.49321	1.473000	0.48159	0.650000	0.86243	TCA		0.527	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3		NM_006809		40	172	0	0	0	0.009718	0	40	172		
MATN4	8785	broad.mit.edu	37	20	43927050	43927050	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:43927050C>T	ENST00000372754.1	-	7	1317	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	MATN4_ENST00000537548.1_Missense_Mutation_p.E396K|MATN4_ENST00000342716.4_Missense_Mutation_p.E396K|MATN4_ENST00000372756.1_Missense_Mutation_p.E396K|MATN4_ENST00000372751.4_Missense_Mutation_p.E247K|MATN4_ENST00000353917.5_Missense_Mutation_p.E314K|MATN4_ENST00000360607.6_Missense_Mutation_p.E355K			O95460	MATN4_HUMAN	matrilin 4	437	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGAGGGAACTCGGTGCGCACG	0.657																																						uc002xnn.2		NaN																	0					0						c.(1186-1188)GAG>AAG		matrilin 4 isoform 1 precursor							51.0	46.0	48.0					20																	43927050		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43927050C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1309G>A	20.37:g.43927050C>T	ENSP00000361840:p.Glu437Lys					MATN4_uc002xno.2_Missense_Mutation_p.E355K|MATN4_uc002xnp.2_Missense_Mutation_p.E314K|MATN4_uc010zwr.1_Missense_Mutation_p.E344K|MATN4_uc002xnr.1_Missense_Mutation_p.E396K	p.E396K	NM_003833	NP_003824	O95460	MATN4_HUMAN			7	1373	-		Myeloproliferative disorder(115;0.0122)	437			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1186G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.663951	0.96745	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.45	5.45	0.79879	.	0.000000	0.44688	D	0.000433	D	0.94584	0.8255	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.91635	0.999;0.866;0.998	D	0.95673	0.8725	10	0.87932	D	0	.	18.3404	0.90303	0.0:1.0:0.0:0.0	.	314;355;396	A6NNA4;O95460-4;O95460-2	.;.;.	K	247;437;396;314;355;396;396;437;247	ENSP00000361839:E247K;ENSP00000361840:E437K;ENSP00000361842:E396K;ENSP00000243983:E314K;ENSP00000353819:E355K;ENSP00000343164:E396K;ENSP00000440328:E396K;ENSP00000361837:E247K	ENSP00000255132:E437K	E	-	1	0	MATN4	43360464	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.764000	0.85297	2.562000	0.86427	0.650000	0.86243	GAG		0.657	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1				93	64	0	0	0	0.01441	0	93	64		
TNNC2	7125	broad.mit.edu	37	20	44453014	44453014	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:44453014C>T	ENST00000372555.3	-	4	323	c.231G>A	c.(229-231)ttG>ttA	p.L77L	TNNC2_ENST00000372557.1_Silent_p.L62L	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CCATCATGACCAAGAACTCCT	0.662																																						uc002xpr.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(229-231)TTG>TTA		fast skeletal muscle troponin C							70.0	63.0	65.0					20																	44453014		2203	4300	6503	SO:0001819	synonymous_variant	7125				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding	g.chr20:44453014C>T		CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.231G>A	20.37:g.44453014C>T							p.L77L	NM_003279	NP_003270	P02585	TNNC2_HUMAN			4	297	-		Myeloproliferative disorder(115;0.0122)	77			EF-hand 2.		Q6FH92	Silent	SNP	ENST00000372555.3	37	c.231G>A	CCDS13375.1																																																																																				0.662	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079524.3		NM_003279		31	168	0	0	0	0.003271	0	31	168		
NCOA3	8202	broad.mit.edu	37	20	46254142	46254142	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:46254142G>A	ENST00000371998.3	+	5	465	c.274G>A	c.(274-276)Gat>Aat	p.D92N	NCOA3_ENST00000372004.3_Missense_Mutation_p.D92N|NCOA3_ENST00000371997.3_Missense_Mutation_p.D92N|NCOA3_ENST00000341724.6_Missense_Mutation_p.D92N			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	92					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|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 transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATTTCCAATGATGATGATGT	0.368																																						uc002xtk.2		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(274-276)GAT>AAT		nuclear receptor coactivator 3 isoform a							109.0	99.0	102.0					20																	46254142		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46254142G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.274G>A	20.37:g.46254142G>A	ENSP00000361066:p.Asp92Asn					NCOA3_uc010ght.1_Missense_Mutation_p.D92N|NCOA3_uc002xtl.2_Missense_Mutation_p.D92N|NCOA3_uc002xtm.2_Missense_Mutation_p.D92N|NCOA3_uc002xtn.2_Missense_Mutation_p.D92N|NCOA3_uc010zyc.1_5'Flank	p.D92N	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			5	479	+			92					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.274G>A	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680650	0.88542	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02446	4.29;4.46;4.46;4.3	5.62	5.62	0.85841	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	L	0.27053	0.805	0.80722	D	1	D;B;B;P;B	0.89917	1.0;0.427;0.427;0.562;0.427	D;B;B;B;B	0.91635	0.999;0.254;0.254;0.343;0.186	T	0.54490	-0.8286	10	0.20519	T	0.43	-25.2209	19.6585	0.95853	0.0:0.0:1.0:0.0	.	92;96;92;92;92	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	N	92	ENSP00000342123:D92N;ENSP00000361073:D92N;ENSP00000361066:D92N;ENSP00000361065:D92N	ENSP00000345671:D92N	D	+	1	0	NCOA3	45687549	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.062000	0.89475	2.657000	0.90304	0.467000	0.42956	GAT		0.368	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534		54	39	0	0	0	0.01441	0	54	39		
ZNF217	7764	broad.mit.edu	37	20	52199147	52199147	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr20:52199147G>A	ENST00000371471.2	-	2	644	c.219C>T	c.(217-219)acC>acT	p.T73T	ZNF217_ENST00000302342.3_Silent_p.T73T|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	73					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AATGTGTGAAGGTCTGGCTGC	0.463																																						uc002xwq.3		NaN																	0				skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(217-219)ACC>ACT		zinc finger protein 217							142.0	135.0	137.0					20																	52199147		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52199147G>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.219C>T	20.37:g.52199147G>A						ZNF217_uc010gij.1_Silent_p.T65T	p.T73T	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		1	490	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		73			C2H2-type 1.		E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.219C>T	CCDS13443.1																																																																																				0.463	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2		NM_006526		42	96	0	0	0	0.009718	0	42	96		
SYNJ1	8867	broad.mit.edu	37	21	34022588	34022588	+	Missense_Mutation	SNP	C	C	G	rs115683257	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:34022588C>G	ENST00000322229.7	-	22	2942	c.2943G>C	c.(2941-2943)atG>atC	p.M981I	SYNJ1_ENST00000382499.2_Missense_Mutation_p.M1020I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.M1020I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.M981I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.M976I			O43426	SYNJ1_HUMAN	synaptojanin 1	981	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCTCTAAACTCATTTCTTCTT	0.353																																						uc002yqh.2		NaN																	0				ovary(4)|skin(1)	5						c.(3058-3060)ATG>ATC		synaptojanin 1 isoform a							155.0	157.0	156.0					21																	34022588		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34022588C>G	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2943G>C	21.37:g.34022588C>G	ENSP00000322234:p.Met981Ile					SYNJ1_uc011ads.1_Missense_Mutation_p.M976I|SYNJ1_uc002yqf.2_Missense_Mutation_p.M981I|SYNJ1_uc002yqg.2_Missense_Mutation_p.M976I|SYNJ1_uc002yqi.2_Missense_Mutation_p.M1020I	p.M1020I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			23	3060	-			981			Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.3060G>C	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	5.935	0.356530	0.11239	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.92249	-2.09;-3.0;-2.96;-2.19;-2.16	5.65	3.82	0.43975	Domain of unknown function DUF1866 (1);	0.070012	0.85682	N	0.000000	T	0.80215	0.4582	N	0.13098	0.295	0.46774	D	0.999198	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.13407	0.004;0.006;0.002;0.009;0.002	T	0.70662	-0.4810	10	0.02654	T	1	.	8.1073	0.30894	0.0:0.7315:0.1286:0.1398	.	976;1020;981;981;981	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	I	976;981;1020;1020;981	ENSP00000371931:M976I;ENSP00000349903:M981I;ENSP00000371939:M1020I;ENSP00000409667:M1020I;ENSP00000322234:M981I	ENSP00000322234:M981I	M	-	3	0	SYNJ1	32944459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.597000	0.54031	1.391000	0.46566	0.650000	0.86243	ATG		0.353	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding					39	80	0	0	0	0.01441	0	39	80		
MORC3	23515	broad.mit.edu	37	21	37744784	37744784	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:37744784C>A	ENST00000400485.1	+	16	2697	c.2621C>A	c.(2620-2622)aCa>aAa	p.T874K	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	874					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GATGTTTCAACATCAAGTAAC	0.358																																						uc002yvi.2		NaN																	0				ovary(2)	2						c.(2620-2622)ACA>AAA		MORC family CW-type zinc finger 3							140.0	128.0	132.0					21																	37744784		1850	4106	5956	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37744784C>A	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2621C>A	21.37:g.37744784C>A	ENSP00000383333:p.Thr874Lys						p.T874K	NM_015358	NP_056173	Q14149	MORC3_HUMAN			16	2697	+			874			Potential.		A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.2621C>A	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665634	0.67700	.	.	ENSG00000159256	ENST00000400485	D	0.87887	-2.31	5.6	5.6	0.85130	.	0.250465	0.40728	N	0.001024	D	0.85557	0.5724	L	0.38175	1.15	0.38310	D	0.943229	D	0.57899	0.981	P	0.57911	0.829	T	0.81695	-0.0816	10	0.05721	T	0.95	-20.4487	12.1473	0.54029	0.0:0.9215:0.0:0.0785	.	874	Q14149	MORC3_HUMAN	K	874	ENSP00000383333:T874K	ENSP00000383333:T874K	T	+	2	0	MORC3	36666654	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.171000	0.50824	2.629000	0.89072	0.491000	0.48974	ACA		0.358	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1		NM_015358		13	47	1	0	1.5739e-10	0.004007	1.64785e-10	13	47		
KCNJ15	3772	broad.mit.edu	37	21	39671488	39671488	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:39671488C>G	ENST00000328656.4	+	4	608	c.305C>G	c.(304-306)tCa>tGa	p.S102*	KCNJ15_ENST00000398932.1_Nonsense_Mutation_p.S102*|KCNJ15_ENST00000398934.1_Nonsense_Mutation_p.S102*|KCNJ15_ENST00000398938.2_Nonsense_Mutation_p.S102*|KCNJ15_ENST00000398930.1_Nonsense_Mutation_p.S102*	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	102					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	GAGCCCATTTCAAATCATACC	0.493																																						uc002ywv.2		NaN																	0				ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						c.(304-306)TCA>TGA		potassium inwardly-rectifying channel J15							110.0	111.0	111.0					21																	39671488		2203	4300	6503	SO:0001587	stop_gained	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671488C>G	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.305C>G	21.37:g.39671488C>G	ENSP00000331698:p.Ser102*					KCNJ15_uc002yww.2_Nonsense_Mutation_p.S102*|KCNJ15_uc002ywx.2_Nonsense_Mutation_p.S102*	p.S102*	NM_002243	NP_002234	Q99712	IRK15_HUMAN			4	607	+			102			Extracellular (By similarity).		D3DSH5|O00564|Q96L28|Q99446	Nonsense_Mutation	SNP	ENST00000328656.4	37	c.305C>G	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621201	0.46736	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	.	.	.	5.13	4.18	0.49190	.	0.291140	0.34067	N	0.004299	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8097	0.63253	0.1535:0.8465:0.0:0.0	.	.	.	.	X	102	.	.	S	+	2	0	KCNJ15	38593358	0.118000	0.22208	0.067000	0.19924	0.240000	0.25518	3.052000	0.49893	2.554000	0.86153	0.655000	0.94253	TCA		0.493	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2		NM_002243		52	69	0	0	0	0.01441	0	52	69		
ERG	2078	broad.mit.edu	37	21	39755585	39755585	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:39755585C>A	ENST00000417133.2	-	12	1386	c.1201G>T	c.(1201-1203)Ggg>Tgg	p.G401W	ERG_ENST00000288319.7_Missense_Mutation_p.G394W|ERG_ENST00000398905.1_Missense_Mutation_p.G370W|ERG_ENST00000442448.1_Missense_Mutation_p.G377W|ERG_ENST00000398911.1_Missense_Mutation_p.G377W|ERG_ENST00000398910.1_Missense_Mutation_p.G378W|ERG_ENST00000453032.2_Missense_Mutation_p.G302W|ERG_ENST00000398897.1_Missense_Mutation_p.G278W|ERG_ENST00000398907.1_Missense_Mutation_p.G371W|ERG_ENST00000398919.2_Missense_Mutation_p.G401W	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TGGGCGATCCCGTGGAAGTCG	0.582			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2		NaN		Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	0				prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.(1201-1203)GGG>TGG		ets-related isoform 4							114.0	104.0	107.0					21																	39755585		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755585C>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1201G>T	21.37:g.39755585C>A	ENSP00000414150:p.Gly401Trp					ERG_uc002yxa.2_Missense_Mutation_p.G394W|ERG_uc011aek.1_Missense_Mutation_p.G302W|ERG_uc010gnv.2_Missense_Mutation_p.G278W|ERG_uc010gnx.2_Missense_Mutation_p.G377W|ERG_uc011ael.1_Missense_Mutation_p.G401W|ERG_uc002yxb.2_Missense_Mutation_p.G377W	p.G401W	NM_001136155	NP_001129627	P11308	ERG_HUMAN			12	1496	-		Prostate(19;3.6e-06)	401					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.1201G>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507995	0.85282	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.80301	-0.1440	10	0.87932	D	0	.	18.7596	0.91845	0.0:1.0:0.0:0.0	.	401;370;377;394	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	W	370;371;394;278;377;401;378;377;302;401	ENSP00000381877:G370W;ENSP00000381879:G371W;ENSP00000288319:G394W;ENSP00000381871:G278W;ENSP00000381882:G377W;ENSP00000414150:G401W;ENSP00000381881:G378W;ENSP00000394694:G377W;ENSP00000396268:G302W;ENSP00000381891:G401W	ENSP00000288319:G394W	G	-	1	0	ERG	38677455	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.818000	0.86416	2.404000	0.81709	0.655000	0.94253	GGG		0.582	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2		NM_182918		56	98	1	0	1.2582e-26	0.01441	1.3613e-26	56	98		
BRWD1	54014	broad.mit.edu	37	21	40590434	40590434	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:40590434G>T	ENST00000333229.2	-	30	3862	c.3535C>A	c.(3535-3537)Ctt>Att	p.L1179I	BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000380800.3_Missense_Mutation_p.L1179I|BRWD1_ENST00000342449.3_Missense_Mutation_p.L1179I	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1179	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AACTTACCAAGATTCAAAAGT	0.284																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(3535-3537)CTT>ATT		bromodomain and WD repeat domain containing 1							88.0	81.0	83.0					21																	40590434		2202	4299	6501	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40590434G>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3535C>A	21.37:g.40590434G>T	ENSP00000330753:p.Leu1179Ile					BRWD1_uc010goc.1_Intron|BRWD1_uc002yxl.2_Missense_Mutation_p.L1179I|BRWD1_uc010god.1_Missense_Mutation_p.L145I	p.L1179I	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			30	3674	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1179			Bromo 1.		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.3535C>A	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.85|16.85	3.235603|3.235603	0.58886|0.58886	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.29655|.	1.56;1.56;1.56|.	5.2|5.2	4.28|4.28	0.50868|0.50868	Bromodomain (5);|.	0.241411|.	0.30374|.	N|.	0.009767|.	T|T	0.75302|0.75302	0.3831|0.3831	M|M	0.82923|0.82923	2.615|2.615	0.80722|0.80722	D|D	1|1	D;D;D|.	0.63046|.	0.992;0.984;0.992|.	D;P;P|.	0.62955|.	0.909;0.848;0.883|.	T|T	0.76929|0.76929	-0.2777|-0.2777	10|5	0.72032|.	D|.	0.01|.	.|.	12.5562|12.5562	0.56254|0.56254	0.0:0.0:0.6971:0.3029|0.0:0.0:0.6971:0.3029	.|.	1179;1179;1179|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	I|Y	1179;1179;1179;183|164	ENSP00000330753:L1179I;ENSP00000344333:L1179I;ENSP00000370178:L1179I|.	ENSP00000330753:L1179I|.	L|S	-|-	1|2	0|0	BRWD1|BRWD1	39512304|39512304	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.929000|0.929000	0.56500|0.56500	1.992000|1.992000	0.40737|0.40737	1.129000|1.129000	0.42072|0.42072	0.563000|0.563000	0.77884|0.77884	CTT|TCT		0.284	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		6	27	1	0	5.18039e-06	0.00308	5.3299e-06	6	27		
TMPRSS2	7113	broad.mit.edu	37	21	42840425	42840425	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:42840425G>A	ENST00000332149.5	-	12	1346	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	TMPRSS2_ENST00000398585.3_Silent_p.L441L|TMPRSS2_ENST00000458356.1_Silent_p.L404L	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	404	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTGTCTCAATGAGAAGCACCT	0.542			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	uc002yzj.2		NaN		Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	ERG|ETV1|ETV4|ETV5		prostate 	TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	0				prostate(2523)|central_nervous_system(1)	2524						c.(1210-1212)CTC>CTT		transmembrane protease, serine 2 isoform 2							189.0	143.0	159.0					21																	42840425		2203	4300	6503	SO:0001819	synonymous_variant	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42840425G>A	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1212C>T	21.37:g.42840425G>A						TMPRSS2_uc010gor.2_Silent_p.L441L|TMPRSS2_uc010gos.1_Silent_p.L404L	p.L404L	NM_005656	NP_005647	O15393	TMPS2_HUMAN			12	1346	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	404			Peptidase S1.|Extracellular (Potential).		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	c.1212C>T	CCDS33564.1																																																																																				0.542	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1				29	45	0	0	0	0.007291	0	29	45		
PCNT	5116	broad.mit.edu	37	21	47746353	47746353	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:47746353G>A	ENST00000359568.5	+	2	224	c.117G>A	c.(115-117)gcG>gcA	p.A39A	C21orf58_ENST00000291691.7_5'Flank|C21orf58_ENST00000397685.4_5'Flank|PCNT_ENST00000480896.1_3'UTR|C21orf58_ENST00000397680.1_5'Flank|C21orf58_ENST00000397682.3_5'Flank	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	39					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAAAGACGGCGAAGAGGAAGG	0.507																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(115-117)GCG>GCA		pericentrin							95.0	82.0	86.0					21																	47746353		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47746353G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.117G>A	21.37:g.47746353G>A						PCNT_uc002zjj.2_5'UTR|C21orf58_uc011afx.1_5'Flank|C21orf58_uc002zjf.2_5'Flank|C21orf58_uc010gqj.1_5'Flank|C21orf58_uc002zjg.1_5'Flank	p.A39A	NM_006031	NP_006022	O95613	PCNT_HUMAN			2	224	+	Breast(49;0.112)		39					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.117G>A	CCDS33592.1																																																																																				0.507	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		28	53	0	0	0	0.009535	0	28	53		
PCNT	5116	broad.mit.edu	37	21	47858172	47858172	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr21:47858172G>A	ENST00000359568.5	+	41	9302	c.9195G>A	c.(9193-9195)gaG>gaA	p.E3065E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3065	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGACCCAGGAGAAGCTGGAGC	0.527																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(9193-9195)GAG>GAA		pericentrin							73.0	64.0	68.0					21																	47858172		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47858172G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9195G>A	21.37:g.47858172G>A						PCNT_uc002zjj.2_Silent_p.E2868E	p.E3065E	NM_006031	NP_006022	O95613	PCNT_HUMAN			41	9302	+	Breast(49;0.112)		3065			Interaction with NEK2.|Potential.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.9195G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	0.650	-0.809998	0.02798	.	.	ENSG00000160299	ENST00000418394	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	T	0.70833	0.3269	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69355	-0.5167	4	.	.	.	.	14.6169	0.68556	0.0:0.0:1.0:0.0	.	.	.	.	K	46	.	.	R	+	2	0	PCNT	46682600	1.000000	0.71417	0.987000	0.45799	0.024000	0.10985	3.304000	0.51866	2.521000	0.84997	0.655000	0.94253	AGA		0.527	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		8	61	0	0	0	0.006214	0	8	61		
CABIN1	23523	broad.mit.edu	37	22	24479187	24479187	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:24479187G>A	ENST00000398319.2	+	20	3140	c.2755G>A	c.(2755-2757)Gta>Ata	p.V919I	CABIN1_ENST00000263119.5_Missense_Mutation_p.V919I|CABIN1_ENST00000405822.2_Missense_Mutation_p.V869I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	919					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACAGGTGCGAGTACTCCAGAA	0.582																																						uc002zzi.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(2755-2757)GTA>ATA		calcineurin binding protein 1							75.0	63.0	67.0					22																	24479187		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24479187G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2755G>A	22.37:g.24479187G>A	ENSP00000381364:p.Val919Ile					CABIN1_uc002zzj.1_Missense_Mutation_p.V869I|CABIN1_uc002zzl.1_Missense_Mutation_p.V919I	p.V919I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			20	2882	+			919					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.2755G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491444	0.64074	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.48836	0.8;0.8;0.8	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.76071	0.987;0.97	T	0.63959	-0.6519	10	0.33940	T	0.23	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	869;919	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	I	919;869;919	ENSP00000263119:V919I;ENSP00000384694:V869I;ENSP00000381364:V919I	ENSP00000263119:V919I	V	+	1	0	CABIN1	22809187	1.000000	0.71417	0.938000	0.37757	0.221000	0.24807	5.320000	0.65841	2.564000	0.86499	0.585000	0.79938	GTA		0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2		NM_012295		3	68	0	0	0	0.009096	0	3	68		
AP1B1	162	broad.mit.edu	37	22	29745219	29745219	+	Missense_Mutation	SNP	G	G	C	rs144812422	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:29745219G>C	ENST00000405198.1	-	10	1456	c.1425C>G	c.(1423-1425)gaC>gaG	p.D475E	AP1B1_ENST00000415447.1_Missense_Mutation_p.D475E|AP1B1_ENST00000357586.2_Missense_Mutation_p.D475E|AP1B1_ENST00000402502.1_Missense_Mutation_p.D475E|AP1B1_ENST00000317368.7_Missense_Mutation_p.D475E|AP1B1_ENST00000356015.2_Missense_Mutation_p.D475E|AP1B1_ENST00000432560.2_Missense_Mutation_p.D475E			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	475					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTGTGCTCTCGTCATGGAAGC	0.612																																						uc003afj.2		NaN																	0				ovary(1)|skin(1)	2						c.(1423-1425)GAC>GAG		adaptor-related protein complex 1 beta 1 subunit							94.0	75.0	82.0					22																	29745219		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29745219G>C	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1425C>G	22.37:g.29745219G>C	ENSP00000384194:p.Asp475Glu					AP1B1_uc003afi.2_Missense_Mutation_p.D475E|AP1B1_uc003afk.2_Missense_Mutation_p.D475E|AP1B1_uc003afl.2_Missense_Mutation_p.D475E|AP1B1_uc011ako.1_Missense_Mutation_p.D28E	p.D475E	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			11	1609	-			475					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.1425C>G	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308623	0.23821	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.7	-6.22	0.02058	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	N	0.10664	0.02	0.80722	D	1	B;B;B;D;D	0.69078	0.003;0.011;0.023;0.997;0.973	B;B;B;D;P	0.64144	0.048;0.01;0.008;0.922;0.669	T	0.34453	-0.9828	10	0.11182	T	0.66	-22.8517	15.6126	0.76737	0.6597:0.0:0.3403:0.0	.	28;475;475;475;475	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	E	475	ENSP00000350199:D475E;ENSP00000348297:D475E;ENSP00000400065:D475E;ENSP00000384194:D475E;ENSP00000319361:D475E;ENSP00000386071:D475E;ENSP00000387612:D475E;ENSP00000400022:D475E	ENSP00000319361:D475E	D	-	3	2	AP1B1	28075219	0.000000	0.05858	0.965000	0.40720	0.938000	0.57974	-1.980000	0.01492	-0.896000	0.03915	-0.345000	0.07892	GAC		0.612	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1		NM_001127		46	110	0	0	0	0.01441	0	46	110		
NEFH	4744	broad.mit.edu	37	22	29885744	29885744	+	Silent	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:29885744T>C	ENST00000310624.6	+	4	2148	c.2115T>C	c.(2113-2115)ccT>ccC	p.P705P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	711	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAAAGTCCCCTGAGAAGGCCA	0.562																																						uc003afo.2		NaN																	0					0						c.(2113-2115)CCT>CCC		neurofilament, heavy polypeptide 200kDa							56.0	60.0	59.0					22																	29885744		2120	4174	6294	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29885744T>C		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2115T>C	22.37:g.29885744T>C						NEFH_uc003afp.2_5'UTR	p.P705P	NM_021076	NP_066554	P12036	NFH_HUMAN			4	2186	+			711			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.|21.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.2115T>C	CCDS13858.1																																																																																				0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2		NM_021076		3	163	0	0	0	0.000602	0	3	163		
SYN3	8224	broad.mit.edu	37	22	33264982	33264982	+	Missense_Mutation	SNP	C	C	T	rs77543787	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:33264982C>T	ENST00000358763.2	-	5	834	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	SYN3_ENST00000332840.5_Missense_Mutation_p.V198I	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	198	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGTTGTAGACGGAGTAGAGA	0.632													C|||	5	0.000998403	0.0	0.0029	5008	,	,		13657	0.0		0.001	False		,,,				2504	0.002					uc003amx.2		NaN																	0				skin(1)	1						c.(592-594)GTC>ATC		synapsin III isoform IIIa		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	59.0	48.0	52.0		592,592,589	1.0	1.0	22	dbSNP_131	52	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	SYN3	NM_133633.2,NM_003490.3,NM_001135774.1	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	198/445,198/581,197/580	33264982	2,13004	2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33264982C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.592G>A	22.37:g.33264982C>T	ENSP00000351614:p.Val198Ile					SYN3_uc003amy.2_Missense_Mutation_p.V198I|SYN3_uc003amz.2_Missense_Mutation_p.V197I	p.V198I	NM_003490	NP_003481	O14994	SYN3_HUMAN			4	751	-			198			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.592G>A	CCDS13908.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	8.384	0.838254	0.16891	0.0	2.33E-4	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.26660	1.72;1.72	5.87	0.99	0.19807	Pre-ATP-grasp fold (1);Synapsin, ATP-binding domain (1);	0.068918	0.56097	D	0.000031	T	0.04363	0.0120	N	0.02181	-0.65	0.37252	D	0.906597	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.003;0.002	T	0.38329	-0.9666	10	0.02654	T	1	-7.5371	6.6184	0.22790	0.0:0.4265:0.0:0.5735	.	197;198;198	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	I	198	ENSP00000351614:V198I;ENSP00000330219:V198I	ENSP00000330219:V198I	V	-	1	0	SYN3	31594982	0.995000	0.38212	0.983000	0.44433	0.991000	0.79684	1.768000	0.38511	0.501000	0.28013	0.655000	0.94253	GTC		0.632	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4				19	40	0	0	0	0.014323	0	19	40		
GGA1	26088	broad.mit.edu	37	22	38014472	38014472	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:38014472G>C	ENST00000343632.4	+	4	608	c.222G>C	c.(220-222)atG>atC	p.M74I	GGA1_ENST00000406772.1_Start_Codon_SNP_p.M1I|GGA1_ENST00000405147.3_Missense_Mutation_p.M74I|GGA1_ENST00000325180.8_Missense_Mutation_p.M74I|GGA1_ENST00000381756.5_Missense_Mutation_p.M91I|GGA1_ENST00000337437.4_Intron	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	74	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AAACATGCATGAAGAGCTGCG	0.637																																						uc003atc.2		NaN																	0				breast(2)|ovary(1)	3						c.(220-222)ATG>ATC		golgi associated, gamma adaptin ear containing,							103.0	76.0	85.0					22																	38014472		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38014472G>C	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.222G>C	22.37:g.38014472G>C	ENSP00000341344:p.Met74Ile					GGA1_uc003atd.2_Missense_Mutation_p.M74I|GGA1_uc003ate.2_Missense_Mutation_p.M74I|GGA1_uc003atf.2_Missense_Mutation_p.M1I	p.M74I	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN			4	587	+	Melanoma(58;0.0574)		74			VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.222G>C	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103519	0.76983	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000405147;ENST00000429218;ENST00000325180;ENST00000439161;ENST00000449944;ENST00000411501;ENST00000453208;ENST00000447515;ENST00000406772;ENST00000431745;ENST00000326597;ENST00000413251;ENST00000423024	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14	5.35	5.35	0.76521	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.110874	0.85682	D	0.000000	T	0.40498	0.1119	M	0.76433	2.335	0.80722	D	1	B;B;P	0.35011	0.173;0.255;0.48	B;B;P	0.45971	0.223;0.24;0.499	T	0.27839	-1.0062	10	0.59425	D	0.04	-39.0678	19.0552	0.93062	0.0:0.0:1.0:0.0	.	91;74;74	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	I	74;91;74;1;74;1;66;1;1;1;1;1;1;1;1	ENSP00000341344:M74I;ENSP00000371175:M91I;ENSP00000384030:M74I;ENSP00000403534:M1I;ENSP00000321288:M74I;ENSP00000404453:M1I;ENSP00000390416:M66I;ENSP00000400159:M1I;ENSP00000416153:M1I;ENSP00000411727:M1I;ENSP00000385287:M1I;ENSP00000402930:M1I;ENSP00000411373:M1I;ENSP00000414413:M1I	ENSP00000321288:M74I	M	+	3	0	GGA1	36344418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.742000	0.98846	2.507000	0.84556	0.655000	0.94253	ATG		0.637	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3		NM_013365		18	70	0	0	0	0.014323	0	18	70		
TNRC6B	23112	broad.mit.edu	37	22	40711471	40711471	+	Silent	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:40711471A>T	ENST00000454349.2	+	20	5074	c.4863A>T	c.(4861-4863)tcA>tcT	p.S1621S	TNRC6B_ENST00000301923.9_Silent_p.S817S|TNRC6B_ENST00000402203.1_Silent_p.S817S|TNRC6B_ENST00000335727.9_Silent_p.S1511S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1621	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CACCCCGATCAGTCAGGGGGT	0.582																																						uc011aor.1		NaN																	0					0						c.(4861-4863)TCA>TCT		trinucleotide repeat containing 6B isoform 1							45.0	48.0	47.0					22																	40711471		2076	4193	6269	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40711471A>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4863A>T	22.37:g.40711471A>T						TNRC6B_uc003aym.2_Silent_p.S817S|TNRC6B_uc003ayn.3_Silent_p.S1511S|TNRC6B_uc003ayo.2_Silent_p.S1368S	p.S1621S	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			20	5074	+			1621					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.4863A>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.636550	0.29068	.	.	ENSG00000100354	ENST00000446273	.	.	.	6.03	-3.55	0.04639	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30060	-0.9991	4	.	.	.	-7.3127	3.4914	0.07639	0.2523:0.3972:0.2535:0.097	.	.	.	.	L	1307	.	.	Q	+	2	0	TNRC6B	39041417	0.704000	0.27836	0.911000	0.35937	0.997000	0.91878	-0.166000	0.09954	-1.162000	0.02797	0.455000	0.32223	CAG		0.582	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding					39	147	0	0	0	0.01441	0	39	147		
ARHGAP8	23779	broad.mit.edu	37	22	45198028	45198028	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr22:45198028C>T	ENST00000389774.2	+	3	292	c.151C>T	c.(151-153)Cac>Tac	p.H51Y	ARHGAP8_ENST00000336963.4_Missense_Mutation_p.H51Y|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.H305Y|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.H51Y|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.H182Y|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.H305Y|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.H173Y	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	51	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CGAGCTGGACCACCAGCGGCT	0.597																																						uc003bfd.2		NaN																	0				skin(2)	2						c.(913-915)CAC>TAC		Rho GTPase activating protein 8 isoform 2							124.0	105.0	112.0					22																	45198028		2203	4300	6503	SO:0001583	missense	553158							g.chr22:45198028C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.151C>T	22.37:g.45198028C>T	ENSP00000374424:p.His51Tyr					PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.H182Y|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.H173Y|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.H87Y|ARHGAP8_uc003bfi.2_Missense_Mutation_p.H51Y|ARHGAP8_uc010gzv.2_Missense_Mutation_p.H51Y|ARHGAP8_uc003bfj.2_Missense_Mutation_p.H51Y|ARHGAP8_uc003bfk.2_Missense_Mutation_p.H51Y|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Missense_Mutation_p.H87Y	p.H305Y	NM_181335	NP_851852					9	1185	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	c.913C>T	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403210	0.42613	.	.	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000396119;ENST00000336963;ENST00000356099;ENST00000412433	T;T;T;T;T;T;T;T;T	0.61510	0.1;1.79;1.79;0.1;0.1;0.1;0.1;0.1;0.1	4.28	4.28	0.50868	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.34178	U	0.004183	T	0.59088	0.2168	N	0.12502	0.225	0.52501	D	0.999952	P;D;D;D;D;P;D;D	0.69078	0.943;0.961;0.993;0.986;0.985;0.537;0.997;0.967	P;P;D;P;P;B;D;P	0.75484	0.775;0.838;0.937;0.838;0.893;0.294;0.986;0.884	T	0.63107	-0.6711	10	0.39692	T	0.17	.	16.0021	0.80301	0.0:1.0:0.0:0.0	.	87;51;87;51;92;173;305;182	B7ZMA4;A6ZJ79;A2RU51;P85298;Q6PCC7;F8W6F3;B1AHC4;B1AHC3	.;.;.;RHG08_HUMAN;.;.;.;.	Y	182;305;305;173;51;51;51;51;51	ENSP00000354732:H182Y;ENSP00000262731:H305Y;ENSP00000429240:H305Y;ENSP00000374423:H173Y;ENSP00000374424:H51Y;ENSP00000379425:H51Y;ENSP00000337287:H51Y;ENSP00000348407:H51Y;ENSP00000402775:H51Y	ENSP00000337287:H51Y	H	+	1	0	PRR5-ARHGAP8;ARHGAP8	43576692	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	5.074000	0.64401	2.367000	0.80283	0.651000	0.88453	CAC		0.597	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4		NM_017701		11	72	0	0	0	0.010729	0	11	72		
GRM7	2917	broad.mit.edu	37	3	7348315	7348315	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:7348315C>G	ENST00000357716.4	+	4	1283	c.1009C>G	c.(1009-1011)Cag>Gag	p.Q337E	GRM7_ENST00000486284.1_Missense_Mutation_p.Q337E|GRM7_ENST00000402647.2_Missense_Mutation_p.Q337E|GRM7_ENST00000403881.1_Missense_Mutation_p.Q337E|GRM7_ENST00000389336.4_Missense_Mutation_p.Q337E	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	337					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CATCACCATTCAGCCCAAGCG	0.507																																						uc003bqm.2		NaN																	0				ovary(4)|lung(3)	7						c.(1009-1011)CAG>GAG		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						98.0	96.0	97.0					3																	7348315		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7348315C>G	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1009C>G	3.37:g.7348315C>G	ENSP00000350348:p.Gln337Glu					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.Q337E|GRM7_uc003bql.2_Missense_Mutation_p.Q337E|GRM7_uc003bqn.1_5'UTR	p.Q337E	NM_000844	NP_000835	Q14831	GRM7_HUMAN			4	1283	+			337			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1009C>G	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	7.022	0.558819	0.13436	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.74	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.329365	0.28630	N	0.014661	T	0.67571	0.2907	N	0.04746	-0.17	0.31759	N	0.633584	B;B;B	0.28419	0.024;0.029;0.211	B;B;B	0.31495	0.025;0.042;0.131	T	0.65294	-0.6203	9	.	.	.	.	15.3785	0.74633	0.0:0.8603:0.1397:0.0	.	337;337;337	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	E	337	ENSP00000350348:Q337E;ENSP00000417536:Q337E;ENSP00000373987:Q337E;ENSP00000385664:Q337E;ENSP00000384585:Q337E	.	Q	+	1	0	GRM7	7323315	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.826000	0.62715	2.890000	0.99128	0.650000	0.86243	CAG		0.507	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3		NM_000844		9	78	0	0	0	0.008291	0	9	78		
FANCD2	2177	broad.mit.edu	37	3	10138051	10138051	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:10138051C>G	ENST00000419585.1	+	42	4241	c.4080C>G	c.(4078-4080)ctC>ctG	p.L1360L	FANCD2_ENST00000287647.3_Silent_p.L1360L|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_5'Flank|FANCD2_ENST00000383807.1_Silent_p.L1360L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1360					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCCTCTGCTCAAAAAGACCC	0.423			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(4078-4080)CTC>CTG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							129.0	123.0	125.0					3																	10138051		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10138051C>G	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.4080C>G	3.37:g.10138051C>G						FANCD2_uc003bux.1_Silent_p.L1360L|FANCD2_uc003buy.1_Silent_p.L1360L|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	p.L1360L	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	42	4158	+			1360					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.4080C>G	CCDS33696.1																																																																																				0.423	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				48	58	0	0	0	0.01441	0	48	58		
RAF1	5894	broad.mit.edu	37	3	12653512	12653512	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:12653512A>C	ENST00000251849.4	-	3	696	c.257T>G	c.(256-258)cTc>cGc	p.L86R	RAF1_ENST00000542177.1_Intron|RAF1_ENST00000534997.1_5'Flank|RAF1_ENST00000442415.2_Missense_Mutation_p.L86R	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	86	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCTCACCTTGAGTGCTTTCAT	0.488			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													uc003bxf.3		NaN		Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|SRGAP3/RAF1(4)	0				central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14						c.(256-258)CTC>CGC		v-raf-1 murine leukemia viral oncogene homolog	Sorafenib(DB00398)						172.0	160.0	164.0					3																	12653512		2203	4300	6503	SO:0001583	missense	5894	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12653512A>C	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.257T>G	3.37:g.12653512A>C	ENSP00000251849:p.Leu86Arg					RAF1_uc011aut.1_5'Flank|RAF1_uc011auu.1_Intron	p.L86R	NM_002880	NP_002871	P04049	RAF1_HUMAN			3	672	-			86			RBD.		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	c.257T>G	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629814	0.87660	.	.	ENSG00000132155	ENST00000251849;ENST00000442415	T;T	0.80909	-1.39;-1.43	5.7	5.7	0.88788	Raf-like Ras-binding (3);	0.000000	0.85682	D	0.000000	D	0.89612	0.6765	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.90891	0.4761	10	0.87932	D	0	.	15.9712	0.80024	1.0:0.0:0.0:0.0	.	86	P04049	RAF1_HUMAN	R	86	ENSP00000251849:L86R;ENSP00000401888:L86R	ENSP00000251849:L86R	L	-	2	0	RAF1	12628512	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.313000	0.96297	2.184000	0.69523	0.416000	0.27883	CTC		0.488	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2		NM_002880		47	172	0	0	0	0.01441	0	47	172		
FGD5	152273	broad.mit.edu	37	3	14941941	14941941	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:14941941C>G	ENST00000285046.5	+	8	3296	c.3186C>G	c.(3184-3186)gcC>gcG	p.A1062A	FGD5_ENST00000543601.1_Silent_p.A821A|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1062	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CGGACTCCGCCGAGTACGACA	0.577																																						uc003bzc.2		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(3184-3186)GCC>GCG		FYVE, RhoGEF and PH domain containing 5							33.0	35.0	35.0					3																	14941941		2178	4278	6456	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14941941C>G	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3186C>G	3.37:g.14941941C>G						FGD5_uc011avk.1_Silent_p.A1062A|FGD5_uc003bzd.2_Silent_p.A140A	p.A1062A	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			8	3296	+			1062			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.3186C>G	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	8.581	0.882348	0.17467	.	.	ENSG00000154783	ENST00000457774	.	.	.	4.49	-8.98	0.00754	.	.	.	.	.	T	0.34366	0.0895	.	.	.	0.51233	D	0.999918	.	.	.	.	.	.	T	0.40384	-0.9566	4	.	.	.	-9.5151	2.4201	0.04446	0.3873:0.3672:0.1102:0.1353	.	.	.	.	G	246	.	.	R	+	1	2	FGD5	14916945	0.006000	0.16342	0.228000	0.23943	0.952000	0.60782	-1.840000	0.01684	-1.670000	0.01468	-0.423000	0.05987	CGA		0.577	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1		NM_152536		8	39	0	0	0	0.008291	0	8	39		
ZNF385D	79750	broad.mit.edu	37	3	21466996	21466996	+	Silent	SNP	C	C	G	rs201622878		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:21466996C>G	ENST00000281523.2	-	6	1358	c.840G>C	c.(838-840)acG>acC	p.T280T		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	280						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTTTAAGTTGCGTTTCCGAGT	0.413																																						uc003cce.2		NaN																	0				large_intestine(2)|skin(2)|ovary(1)	5						c.(838-840)ACG>ACC		zinc finger protein 385D							219.0	193.0	202.0					3																	21466996		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21466996C>G	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.840G>C	3.37:g.21466996C>G							p.T280T	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			6	1248	-			280			Matrin-type 3.			Silent	SNP	ENST00000281523.2	37	c.840G>C	CCDS2636.1																																																																																				0.413	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1		NM_024697		9	67	0	0	0	0.013537	0	9	67		
NGLY1	55768	broad.mit.edu	37	3	25770771	25770771	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:25770771C>G	ENST00000280700.5	-	10	1624	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N	NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.K446N|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.K488N|NGLY1_ENST00000428257.1_Missense_Mutation_p.K470N	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	488	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GTTTAGAAATCTTCTCATTTT	0.313																																						uc003cdl.2		NaN																	0				breast(1)	1						c.(1462-1464)AAG>AAC		N-glycanase 1 isoform 1							58.0	52.0	54.0					3																	25770771		2202	4297	6499	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25770771C>G	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1464G>C	3.37:g.25770771C>G	ENSP00000280700:p.Lys488Asn					NGLY1_uc010hfg.2_Missense_Mutation_p.K470N|NGLY1_uc003cdm.2_Missense_Mutation_p.K488N|NGLY1_uc011awo.1_Missense_Mutation_p.K446N|NGLY1_uc003cdk.2_RNA	p.K488N	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN			10	1572	-			488			PAW.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1464G>C	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445025	0.63178	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.82	3.69	0.42338	Peptide N glycanase, PAW domain (2);Galactose-binding domain-like (1);	0.177105	0.64402	D	0.000012	T	0.35335	0.0928	M	0.79475	2.455	0.80722	D	1	B;B;B;P	0.48640	0.031;0.05;0.07;0.913	B;B;B;B	0.43194	0.014;0.058;0.087;0.411	T	0.30090	-0.9990	10	0.52906	T	0.07	-9.8997	9.193	0.37211	0.0:0.7321:0.1312:0.1366	.	446;470;488;488	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	N	470;488;488;467;446	ENSP00000387430:K470N;ENSP00000280700:K488N;ENSP00000307980:K467N;ENSP00000389888:K446N	ENSP00000280700:K488N	K	-	3	2	NGLY1	25745775	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.903000	0.48711	1.439000	0.47511	0.561000	0.74099	AAG		0.313	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2				11	13	0	0	0	0.010729	0	11	13		
DYNC1LI1	51143	broad.mit.edu	37	3	32578521	32578521	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:32578521G>C	ENST00000273130.4	-	6	917	c.814C>G	c.(814-816)Cgg>Ggg	p.R272G	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.R156G	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	272					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						CAAAACTTCCGGATATGTGAC	0.264																																						uc003cfb.3		NaN																	0				ovary(1)	1						c.(814-816)CGG>GGG		dynein, cytoplasmic 1, light intermediate chain							79.0	75.0	76.0					3																	32578521		2202	4288	6490	SO:0001583	missense	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32578521G>C	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.814C>G	3.37:g.32578521G>C	ENSP00000273130:p.Arg272Gly					DYNC1LI1_uc011axh.1_Missense_Mutation_p.R156G	p.R272G	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN			6	902	-			272					A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	ENST00000273130.4	37	c.814C>G	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447408	0.63178	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.37235	1.21;1.21	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.91038	3.17	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.74372	-0.3687	10	0.87932	D	0	-11.5737	13.707	0.62646	0.0:0.0:0.7427:0.2573	.	156;272	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	G	272;156	ENSP00000273130:R272G;ENSP00000407279:R156G	ENSP00000273130:R272G	R	-	1	2	DYNC1LI1	32553525	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.130000	0.64745	2.658000	0.90341	0.467000	0.42956	CGG		0.264	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1		NM_016141		23	46	0	0	0	0.004656	0	23	46		
STAC	6769	broad.mit.edu	37	3	36422160	36422160	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:36422160G>A	ENST00000273183.3	+	1	325	c.25G>A	c.(25-27)Gag>Aag	p.E9K	STAC_ENST00000457375.2_Missense_Mutation_p.E9K	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	9					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CAGCCCCCGCGAGGACGGCGT	0.721																																						uc003cgh.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(25-27)GAG>AAG		SH3 and cysteine rich domain							13.0	12.0	12.0					3																	36422160		2190	4272	6462	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36422160G>A	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.25G>A	3.37:g.36422160G>A	ENSP00000273183:p.Glu9Lys					STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.E9K	p.E9K	NM_003149	NP_003140	Q99469	STAC_HUMAN			1	64	+			9					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.25G>A	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325377	0.60743	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000434649	T;T;T	0.74526	-0.85;1.06;0.92	4.96	3.13	0.36017	.	0.299348	0.32190	N	0.006447	T	0.56124	0.1964	N	0.22421	0.69	0.26742	N	0.970366	P;P	0.49961	0.672;0.93	B;B	0.34873	0.062;0.191	T	0.53344	-0.8452	10	0.52906	T	0.07	.	13.4075	0.60922	0.0:0.3013:0.6987:0.0	.	9;9	E9PEA7;Q99469	.;STAC_HUMAN	K	9	ENSP00000273183:E9K;ENSP00000393713:E9K;ENSP00000398403:E9K	ENSP00000273183:E9K	E	+	1	0	STAC	36397164	0.998000	0.40836	0.967000	0.41034	0.814000	0.46013	2.090000	0.41682	0.728000	0.32382	-0.156000	0.13503	GAG		0.721	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2		NM_003149		3	22	0	0	0	0.001168	0	3	22		
MAP4	4134	broad.mit.edu	37	3	47894824	47894824	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:47894824C>T	ENST00000360240.6	-	18	3798	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	MAP4_ENST00000264724.11_Missense_Mutation_p.E829K|MAP4_ENST00000426837.2_Missense_Mutation_p.E2239K|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000420772.2_Intron|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000383737.4_Missense_Mutation_p.E753K	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	1094					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	AGAGGAGCCTCGCTGCCACCG	0.652																																						uc003csb.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(3280-3282)GAG>AAG		microtubule-associated protein 4 isoform 1							8.0	10.0	10.0					3																	47894824		2161	4212	6373	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47894824C>T		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.3280G>A	3.37:g.47894824C>T	ENSP00000353375:p.Glu1094Lys					MAP4_uc003csc.3_Intron|MAP4_uc003crw.2_Missense_Mutation_p.E173K|MAP4_uc003crx.2_Missense_Mutation_p.E270K|MAP4_uc011bbe.1_Intron|MAP4_uc003cry.2_Missense_Mutation_p.E829K|MAP4_uc003csa.3_Missense_Mutation_p.E760K|MAP4_uc003crz.3_RNA	p.E1094K	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	18	3806	-			1094					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.3280G>A	CCDS33750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.036885|4.036885	0.75617|0.75617	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000426837;ENST00000360240|ENST00000429422	T;T;T;T|.	0.31247|.	3.06;1.5;3.24;3.22|.	4.82|4.82	3.92|3.92	0.45320|0.45320	.|.	.|.	.|.	.|.	.|.	T|T	0.32102|0.32102	0.0818|0.0818	N|N	0.19112|0.19112	0.55|0.55	0.21499|0.21499	N|N	0.999667|0.999667	D;D;P;D|.	0.65815|.	0.995;0.995;0.477;0.981|.	P;P;B;P|.	0.50659|.	0.647;0.647;0.041;0.588|.	T|T	0.18587|0.18587	-1.0332|-1.0332	9|5	0.66056|.	D|.	0.02|.	-10.9825|-10.9825	12.3127|12.3127	0.54938|0.54938	0.0:0.8294:0.1706:0.0|0.0:0.8294:0.1706:0.0	.|.	1094;829;753;2239|.	P27816;E9PGM5;B9ZVR1;E7EVA0|.	MAP4_HUMAN;.;.;.|.	K|Q	753;829;2239;1094|435	ENSP00000373243:E753K;ENSP00000264724:E829K;ENSP00000407602:E2239K;ENSP00000353375:E1094K|.	ENSP00000264724:E829K|.	E|R	-|-	1|2	0|0	MAP4|MAP4	47869828|47869828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.215000|2.215000	0.42862|0.42862	0.975000|0.975000	0.38392|0.38392	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.652	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1		NM_002375		5	8	0	0	0	0.000602	0	5	8		
CCDC71	64925	broad.mit.edu	37	3	49201299	49201299	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:49201299T>A	ENST00000321895.6	-	2	449	c.343A>T	c.(343-345)Aca>Tca	p.T115S		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	115										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGAAGCAGTGTGGCCCGACCT	0.602																																						uc003cwg.3		NaN																	0				ovary(1)	1						c.(343-345)ACA>TCA		coiled-coil domain containing 71							99.0	90.0	93.0					3																	49201299		2203	4300	6503	SO:0001583	missense	64925							g.chr3:49201299T>A	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.343A>T	3.37:g.49201299T>A	ENSP00000319006:p.Thr115Ser						p.T115S	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	481	-			115					Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	ENST00000321895.6	37	c.343A>T	CCDS2790.1	.	.	.	.	.	.	.	.	.	.	T	2.628	-0.287029	0.05605	.	.	ENSG00000177352	ENST00000321895	T	0.28895	1.59	4.9	3.77	0.43336	.	0.431343	0.21650	N	0.071196	T	0.25457	0.0619	L	0.36672	1.1	0.26231	N	0.979016	P	0.50528	0.936	P	0.47673	0.554	T	0.05386	-1.0888	10	0.12430	T	0.62	-21.0888	9.1977	0.37237	0.0:0.084:0.0:0.916	.	115	Q8IV32	CCD71_HUMAN	S	115	ENSP00000319006:T115S	ENSP00000319006:T115S	T	-	1	0	CCDC71	49176303	0.999000	0.42202	0.993000	0.49108	0.127000	0.20565	1.434000	0.34958	2.156000	0.67533	0.528000	0.53228	ACA		0.602	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1		NM_022903		43	64	0	0	0	0.009718	0	43	64		
MON1A	84315	broad.mit.edu	37	3	49949438	49949438	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:49949438C>T	ENST00000417270.1	-	4	851	c.158G>A	c.(157-159)gGc>gAc	p.G53D	MON1A_ENST00000455683.2_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.G142D|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000483022.1_5'UTR			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	45										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACCCTCCTGGCCCGCACCTGC	0.607																																						uc003cxz.2		NaN																	0				ovary(2)	2						c.(424-426)GGC>GAC		MON1 homolog A isoform a							42.0	43.0	43.0					3																	49949438		2203	4300	6503	SO:0001583	missense	84315						protein binding	g.chr3:49949438C>T	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.158G>A	3.37:g.49949438C>T	ENSP00000399613:p.Gly53Asp					MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	p.G142D	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	551	-			45					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.425G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.111617	0.77210	.	.	ENSG00000164077	ENST00000296473;ENST00000417270	.	.	.	5.0	5.0	0.66597	.	0.195578	0.53938	D	0.000045	T	0.72946	0.3524	L	0.56769	1.78	0.40706	D	0.982528	D	0.63880	0.993	P	0.58520	0.84	T	0.73560	-0.3944	8	.	.	.	-29.4355	18.2971	0.90150	0.0:1.0:0.0:0.0	.	45	Q86VX9	MON1A_HUMAN	D	142;53	.	.	G	-	2	0	MON1A	49924442	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.874000	0.56101	2.319000	0.78375	0.561000	0.74099	GGC		0.607	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2		NM_032355		21	74	0	0	0	0.005443	0	21	74		
IFRD2	7866	broad.mit.edu	37	3	50326727	50326727	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:50326727C>T	ENST00000429673.2	-	8	1035	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	IFRD2_ENST00000436390.1_Missense_Mutation_p.E282K|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000417626.2_Missense_Mutation_p.E282K|IFRD2_ENST00000336089.4_Missense_Mutation_p.E448K			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	346						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAATGGTTTCACCGGCAGCG	0.607																																						uc011bdp.1		NaN																	0				lung(2)|ovary(1)	3						c.(1036-1038)GAA>AAA		interferon-related developmental regulator 2							31.0	33.0	32.0					3																	50326727		1983	4167	6150	SO:0001583	missense	7866						binding	g.chr3:50326727C>T	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1036G>A	3.37:g.50326727C>T	ENSP00000398971:p.Glu346Lys					IFRD2_uc003czb.2_Missense_Mutation_p.E448K	p.E346K	NM_006764	NP_006755	Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	8	1165	-			346					Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	c.1036G>A	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481190	0.84747	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.52	5.52	0.82312	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82554	0.5062	M	0.89414	3.03	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.85241	0.1038	10	0.62326	D	0.03	-17.6683	16.9419	0.86220	0.0:1.0:0.0:0.0	.	346;448	Q12894;Q9UJ88	IFRD2_HUMAN;.	K	282;282;448;346	ENSP00000402849:E282K;ENSP00000392316:E282K;ENSP00000336936:E448K;ENSP00000398971:E346K	ENSP00000336936:E448K	E	-	1	0	IFRD2	50301731	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	5.359000	0.66074	2.617000	0.88574	0.655000	0.94253	GAA		0.607	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_006764		4	10	0	0	0	0.009096	0	4	10		
RBM15B	29890	broad.mit.edu	37	3	51429743	51429743	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:51429743G>A	ENST00000323686.4	+	1	1013	c.913G>A	c.(913-915)Gac>Aac	p.D305N		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	305					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGGGCCCTGGACTACTACGG	0.731																																						uc003dbd.2		NaN																	0					0						c.(913-915)GAC>AAC		RNA binding motif protein 15B							33.0	36.0	35.0					3																	51429743		2201	4300	6501	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51429743G>A	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.913G>A	3.37:g.51429743G>A	ENSP00000313890:p.Asp305Asn						p.D305N	NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1013	+			305					A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.913G>A	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629516	0.46944	.	.	ENSG00000179837	ENST00000323686	T	0.14766	2.48	4.65	3.7	0.42460	.	.	.	.	.	T	0.21227	0.0511	L	0.36672	1.1	0.44500	D	0.997449	D	0.76494	0.999	D	0.63381	0.914	T	0.02464	-1.1155	9	0.13108	T	0.6	.	13.7848	0.63104	0.0:0.0:0.8461:0.1539	.	305	Q8NDT2	RB15B_HUMAN	N	305	ENSP00000313890:D305N	ENSP00000313890:D305N	D	+	1	0	RBM15B	51404783	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.886000	0.75611	2.302000	0.77476	0.561000	0.74099	GAC		0.731	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1		NM_013286		18	30	0	0	0	0.010504	0	18	30		
VPRBP	9730	broad.mit.edu	37	3	51458411	51458411	+	Intron	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:51458411G>A	ENST00000335891.5	-	7	682							Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CATCATGGATGAAGAACTCAC	0.363																																						uc003dbe.1		NaN																	0				ovary(1)|skin(1)	2						c.(2011-2013)TTC>TTT		HIV-1 Vpr binding protein							106.0	100.0	102.0					3																	51458411		1873	4116	5989	SO:0001627	intron_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51458411G>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.673-7C>T	3.37:g.51458411G>A						VPRBP_uc003dbf.1_5'UTR	p.F671F	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	14	2181	-			671					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.2013C>T																																																																																					0.363	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_014703		24	95	0	0	0	0.008361	0	24	95		
APPL1	26060	broad.mit.edu	37	3	57282256	57282256	+	Missense_Mutation	SNP	T	T	C	rs369018187		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:57282256T>C	ENST00000288266.3	+	10	887	c.740T>C	c.(739-741)aTg>aCg	p.M247T		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	247	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		ATAGAGACCATGCAACAGACA	0.408																																						uc003dio.2		NaN																	0				breast(1)	1						c.(739-741)ATG>ACG		adaptor protein, phosphotyrosine interaction, PH							120.0	111.0	115.0					3																	57282256		2203	4300	6503	SO:0001583	missense	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57282256T>C	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.740T>C	3.37:g.57282256T>C	ENSP00000288266:p.Met247Thr					APPL1_uc010hnb.2_Missense_Mutation_p.M247T|APPL1_uc011bey.1_Missense_Mutation_p.M230T	p.M247T	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	10	887	+			247			Required for RAB5A binding.|Potential.		Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	c.740T>C	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.410915	0.42817	.	.	ENSG00000157500	ENST00000288266	T	0.04551	3.6	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.08758	0.0217	L	0.60455	1.87	0.80722	D	1	B;B	0.17667	0.001;0.023	B;B	0.16289	0.006;0.015	T	0.03807	-1.1002	10	0.62326	D	0.03	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	230;247	B4DQX8;Q9UKG1	.;DP13A_HUMAN	T	247	ENSP00000288266:M247T	ENSP00000288266:M247T	M	+	2	0	APPL1	57257296	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.213000	0.72194	2.323000	0.78572	0.528000	0.53228	ATG		0.408	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2		NM_012096		25	88	0	0	0	0.009535	0	25	88		
PRICKLE2	166336	broad.mit.edu	37	3	64084988	64084988	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:64084988C>T	ENST00000295902.6	-	8	2859	c.2274G>A	c.(2272-2274)caG>caA	p.Q758Q	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.Q814Q	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	758					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CAAAGGCATTCTGCAAAGCCA	0.587																																						uc003dmf.2		NaN																	0				ovary(4)|skin(1)	5						c.(2272-2274)CAG>CAA		prickle-like 2							54.0	58.0	57.0					3																	64084988		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64084988C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2274G>A	3.37:g.64084988C>T							p.Q758Q	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2860	-		Lung NSC(201;0.136)	758					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.2274G>A	CCDS2902.1																																																																																				0.587	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1		NM_198859		10	41	0	0	0	0.008291	0	10	41		
LRIG1	26018	broad.mit.edu	37	3	66449393	66449393	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:66449393C>T	ENST00000273261.3	-	10	1757		c.e10+1		LRIG1_ENST00000383703.3_Splice_Site|LRIG1_ENST00000496559.2_Splice_Site	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1						innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GAGATACTCACAGGTGCTCCA	0.498																																						uc003dmx.2		NaN																	0				skin(3)|ovary(2)	5						c.e10+1		leucine-rich repeats and immunoglobulin-like							61.0	52.0	55.0					3																	66449393		2203	4300	6503	SO:0001630	splice_region_variant	26018					integral to membrane		g.chr3:66449393C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1232+1G>A	3.37:g.66449393C>T						LRIG1_uc011bfu.1_Splice_Site_p.L31_splice|LRIG1_uc003dmw.2_Splice_Site_p.L77_splice|LRIG1_uc010hnz.2_Intron|LRIG1_uc010hoa.2_Splice_Site_p.L435_splice	p.L411_splice	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	10	1246	-		Lung NSC(201;0.0101)						Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Splice_Site	SNP	ENST00000273261.3	37	c.1232_splice	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859623	0.91433	.	.	ENSG00000144749	ENST00000273261;ENST00000383703	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3227	0.94248	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRIG1	66532083	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.557000	0.86248	0.655000	0.94253	.		0.498	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1		NM_015541	Intron	9	25	0	0	0	0.013537	0	9	25		
EOGT	285203	broad.mit.edu	37	3	69027546	69027546	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:69027546T>C	ENST00000383701.3	-	17	2117	c.1375A>G	c.(1375-1377)Agg>Ggg	p.R459G	EOGT_ENST00000540955.1_Missense_Mutation_p.R183G|EOGT_ENST00000540764.1_Missense_Mutation_p.R358G|EOGT_ENST00000295571.5_Missense_Mutation_p.R375G	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	459					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										CCTCTCAGCCTGGCCAAGTCT	0.428																																						uc003dnl.2		NaN																	0				ovary(1)	1						c.(1375-1377)AGG>GGG		AER61 glycosyltransferase							142.0	127.0	132.0					3																	69027546		2203	4300	6503	SO:0001583	missense	285203					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:69027546T>C	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1375A>G	3.37:g.69027546T>C	ENSP00000373206:p.Arg459Gly					C3orf64_uc003dnj.2_Missense_Mutation_p.R138G|C3orf64_uc003dnk.2_Missense_Mutation_p.R375G|C3orf64_uc011bfw.1_RNA	p.R459G	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)	17	1780	-		Lung NSC(201;0.126)	459					A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37	c.1375A>G		.	.	.	.	.	.	.	.	.	.	T	21.4	4.151115	0.78001	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540955;ENST00000540764	.	.	.	5.45	2.97	0.34412	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.76071	0.905;0.987	T	0.77624	-0.2518	9	0.25106	T	0.35	-21.9838	12.4664	0.55762	0.0:0.0:0.2651:0.7349	.	459;375	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	G	459;375;183;358	.	ENSP00000295571:R375G	R	-	1	2	C3orf64	69110236	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.810000	0.47979	0.404000	0.25506	0.477000	0.44152	AGG		0.428	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1		NM_173654		24	100	0	0	0	0.005443	0	24	100		
PDZRN3	23024	broad.mit.edu	37	3	73432821	73432821	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:73432821C>T	ENST00000263666.4	-	10	3010	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K	PDZRN3_ENST00000479530.1_Missense_Mutation_p.E683K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E623K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E688K|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E623K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	966					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ATCTTCATCTCGCTCACCGCG	0.667																																						uc003dpl.1		NaN																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2896-2898)GAG>AAG		PDZ domain containing ring finger 3							82.0	80.0	81.0					3																	73432821		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432821C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2896G>A	3.37:g.73432821C>T	ENSP00000263666:p.Glu966Lys					PDZRN3_uc011bgh.1_Missense_Mutation_p.E623K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E664K|PDZRN3_uc011bgf.1_Missense_Mutation_p.E683K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E686K	p.E966K	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2992	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	966					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2896G>A	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.786678|4.786678	0.90367|0.90367	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530|ENST00000416926	T;T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92;0.92|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.049690|.	0.85682|.	D|.	0.000000|.	T|T	0.80082|0.80082	0.4558|0.4558	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.991;0.998;0.997|.	D;P;D;P|.	0.78314|.	0.991;0.54;0.931;0.738|.	T|T	0.77343|0.77343	-0.2623|-0.2623	10|6	0.87932|0.21014	D|T	0|0.42	.|.	18.3652|18.3652	0.90388|0.90388	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	688;683;683;966|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	K|Q	966;688;623;623;683|685	ENSP00000263666:E966K;ENSP00000442026:E688K;ENSP00000418168:E623K;ENSP00000418484:E623K;ENSP00000418624:E683K|.	ENSP00000263666:E966K|ENSP00000392657:R685Q	E|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73515511|73515511	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.923000|0.923000	0.55619|0.55619	7.578000|7.578000	0.82498|0.82498	2.417000|2.417000	0.82017|0.82017	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.667	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1		XM_041363		27	138	0	0	0	0.010818	0	27	138		
ROBO1	6091	broad.mit.edu	37	3	78649289	78649289	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:78649289C>T	ENST00000464233.1	-	30	5028	c.4915G>A	c.(4915-4917)Gga>Aga	p.G1639R	ROBO1_ENST00000436010.2_Missense_Mutation_p.G1600R|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1539R|ROBO1_ENST00000495273.1_Missense_Mutation_p.G1594R	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1639					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTATCTTCTCCTCTTTCATAT	0.363																																						uc003dqe.2		NaN																	0				large_intestine(2)	2						c.(4915-4917)GGA>AGA		roundabout 1 isoform a							154.0	144.0	147.0					3																	78649289		1844	4088	5932	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78649289C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4915G>A	3.37:g.78649289C>T	ENSP00000420321:p.Gly1639Arg					ROBO1_uc003dqb.2_Missense_Mutation_p.G1600R|ROBO1_uc003dqc.2_Missense_Mutation_p.G1539R|ROBO1_uc003dqd.2_Missense_Mutation_p.G1594R|ROBO1_uc010hoh.2_Missense_Mutation_p.G831R	p.G1639R	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	30	5123	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1639			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.4915G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354375	0.61293	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.64618	0.04;0.0;-0.01;-0.11	5.61	5.61	0.85477	.	0.156420	0.56097	D	0.000023	T	0.57651	0.2068	N	0.19112	0.55	0.52501	D	0.999956	B;B;D;B	0.67145	0.001;0.001;0.996;0.001	B;B;P;B	0.53649	0.001;0.001;0.731;0.002	T	0.55309	-0.8161	9	.	.	.	.	13.8775	0.63662	0.0:0.9271:0.0:0.0729	.	1639;1594;1539;1600	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	R	1600;1594;1639;1594;1539;1643	ENSP00000406043:G1600R;ENSP00000420321:G1639R;ENSP00000420637:G1594R;ENSP00000417992:G1539R	.	G	-	1	0	ROBO1	78731979	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.532000	0.53553	2.652000	0.90054	0.555000	0.69702	GGA		0.363	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1		NM_002941		3	17	0	0	0	0.000602	0	3	17		
CRYBG3	131544	broad.mit.edu	37	3	97618083	97618083	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:97618083C>T	ENST00000182096.4	+	11	2167	c.2103C>T	c.(2101-2103)atC>atT	p.I701I		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2649							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATAATATAATCATGTCGATAC	0.363																																						uc003drx.2		NaN																	0					0						c.(2101-2103)ATC>ATT		beta-gamma crystallin domain containing 3							96.0	93.0	94.0					3																	97618083		1849	4100	5949	SO:0001819	synonymous_variant	131544							g.chr3:97618083C>T			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2103C>T	3.37:g.97618083C>T							p.I701I	NM_153605	NP_705833					11	2167	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	ENST00000182096.4	37	c.2103C>T																																																																																					0.363	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1		NM_153605		41	43	0	0	0	0.01441	0	41	43		
PVRL3	25945	broad.mit.edu	37	3	110830952	110830952	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:110830952T>C	ENST00000485303.1	+	2	511	c.236T>C	c.(235-237)tTa>tCa	p.L79S	PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.L79S|PVRL3_ENST00000493615.1_Missense_Mutation_p.L56S	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	79	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TTAAAGTGTTTAATTGAAGTA	0.388																																						uc003dxt.1		NaN																	0				upper_aerodigestive_tract(2)	2						c.(235-237)TTA>TCA		poliovirus receptor-related 3 precursor							55.0	53.0	54.0					3																	110830952		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110830952T>C	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.236T>C	3.37:g.110830952T>C	ENSP00000418070:p.Leu79Ser					PVRL3_uc003dxu.1_Missense_Mutation_p.L56S	p.L79S	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN			2	236	+			79			Extracellular (Potential).|Ig-like V-type.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.236T>C	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.000995	0.35320	.	.	ENSG00000177707	ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.268198	0.33712	N	0.004623	T	0.42245	0.1194	N	0.05351	-0.065	0.28351	N	0.920902	B;B	0.25272	0.051;0.122	B;B	0.26416	0.049;0.069	T	0.30060	-0.9991	10	0.19590	T	0.45	.	14.1823	0.65583	0.0:0.0:0.0:1.0	.	56;79	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	S	32;79;79;56;64	ENSP00000418327:L32S;ENSP00000418070:L79S;ENSP00000321514:L79S;ENSP00000420579:L56S;ENSP00000420479:L64S	ENSP00000321514:L79S	L	+	2	0	PVRL3	112313642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.365000	0.52335	2.228000	0.72767	0.533000	0.62120	TTA		0.388	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1		NM_015480		9	43	0	0	0	0.010729	0	9	43		
TMPRSS7	344805	broad.mit.edu	37	3	111794169	111794169	+	Splice_Site	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:111794169C>G	ENST00000452346.2	+	15	1788	c.1785C>G	c.(1783-1785)acC>acG	p.T595T	TMPRSS7_ENST00000419127.1_Splice_Site_p.T469T			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	595	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCACCAAAGCCTGCAGCAGGA	0.532																																						uc010hqb.2		NaN																	0				ovary(1)|kidney(1)	2						c.(1405-1407)ACC>ACG		transmembrane protease, serine 7							79.0	84.0	83.0					3																	111794169		1961	4153	6114	SO:0001630	splice_region_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111794169C>G	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1784-1C>G	3.37:g.111794169C>G						TMPRSS7_uc011bhr.1_Silent_p.T324T	p.T469T	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			13	1577	+			595			Extracellular (Potential).|LDL-receptor class A 3.		C9J8P7|E9PAS3|Q17RH4	Silent	SNP	ENST00000452346.2	37	c.1407C>G																																																																																					0.532	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2		XM_293599	Silent	32	131	0	0	0	0.013726	0	32	131		
KALRN	8997	broad.mit.edu	37	3	124438234	124438234	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:124438234G>A	ENST00000291478.5	+	27	3950	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K	KALRN_ENST00000360013.3_Missense_Mutation_p.E2960K|KALRN_ENST00000428018.2_Missense_Mutation_p.E1231K	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2959					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGCTTCATAGAACGTCGCAA	0.562																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(8878-8880)GAA>AAA		kalirin, RhoGEF kinase isoform 1							58.0	60.0	59.0					3																	124438234		2197	4297	6494	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124438234G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3787G>A	3.37:g.124438234G>A	ENSP00000291478:p.Glu1263Lys					KALRN_uc003ehk.2_Missense_Mutation_p.E1263K	p.E2960K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			60	9005	+			2959					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.8878G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067908	0.76301	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	T;T;T	0.39592	1.07;1.07;1.07	5.3	5.3	0.74995	Protein kinase-like domain (1);	0.127292	0.51477	D	0.000082	T	0.45558	0.1348	L	0.57536	1.79	0.46609	D	0.999128	P;P	0.51057	0.941;0.608	P;B	0.44561	0.453;0.108	T	0.30679	-0.9970	10	0.24483	T	0.36	.	19.1434	0.93455	0.0:0.0:1.0:0.0	.	1263;2959	C9JQ37;O60229	.;KALRN_HUMAN	K	2960;1263;1231	ENSP00000353109:E2960K;ENSP00000291478:E1263K;ENSP00000402419:E1231K	ENSP00000291478:E1263K	E	+	1	0	KALRN	125920924	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	9.657000	0.98554	2.756000	0.94617	0.563000	0.77884	GAA		0.562	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5		NM_003947		25	105	0	0	0	0.003954	0	25	105		
ALG1L	200810	broad.mit.edu	37	3	125652507	125652507	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:125652507G>A	ENST00000340333.3	-	2	174	c.11C>T	c.(10-12)tCg>tTg	p.S4L		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	4							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CATGAAGGCCGACCGCTCCAT	0.637																																						uc003eig.1		NaN																	0					0						c.(10-12)TCG>TTG		asparagine-linked glycosylation 1-like							28.0	27.0	27.0					3																	125652507		2203	4300	6503	SO:0001583	missense	200810						transferase activity, transferring glycosyl groups	g.chr3:125652507G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.11C>T	3.37:g.125652507G>A	ENSP00000340009:p.Ser4Leu						p.S4L	NM_001015050	NP_001015050	Q6GMV1	ALG1L_HUMAN			2	175	-			4					D3DNA5	Missense_Mutation	SNP	ENST00000340333.3	37	c.11C>T	CCDS33840.1	.	.	.	.	.	.	.	.	.	.	.	18.47	3.630028	0.67015	.	.	ENSG00000189366	ENST00000340333	T	0.73575	-0.76	2.11	2.11	0.27256	.	0.111655	0.64402	D	0.000013	T	0.74635	0.3742	L	0.59436	1.845	0.39629	D	0.970148	D	0.65815	0.995	P	0.51516	0.672	T	0.77955	-0.2393	10	0.87932	D	0	-19.223	9.9027	0.41357	0.0:0.0:1.0:0.0	.	4	Q6GMV1	ALG1L_HUMAN	L	4	ENSP00000340009:S4L	ENSP00000340009:S4L	S	-	2	0	ALG1L	127135197	1.000000	0.71417	0.827000	0.32855	0.050000	0.14768	7.310000	0.78947	1.182000	0.42928	0.162000	0.16502	TCG		0.637	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1		NM_001015050		13	46	0	0	0	0.00245	0	13	46		
RUVBL1	8607	broad.mit.edu	37	3	127842556	127842556	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:127842556C>G	ENST00000322623.5	-	1	111	c.12G>C	c.(10-12)gaG>gaC	p.E4D	RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Missense_Mutation_p.E4D	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	4					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		TCTTCACCTCCTCAATCTTCA	0.612																																						uc003ekh.2		NaN																	0				skin(1)	1						c.(10-12)GAG>GAC		RuvB-like 1							49.0	50.0	49.0					3																	127842556		2203	4300	6503	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127842556C>G	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.12G>C	3.37:g.127842556C>G	ENSP00000318297:p.Glu4Asp					RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Missense_Mutation_p.E4D	p.E4D	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	1	116	-			4					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.12G>C	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455749	0.43634	.	.	ENSG00000175792	ENST00000322623;ENST00000417360	T;T	0.65916	-0.18;0.24	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	M	0.73430	2.235	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.15484	0.008;0.013	T	0.64253	-0.6451	10	0.45353	T	0.12	-15.8223	18.103	0.89512	0.0:1.0:0.0:0.0	.	4;4	Q9Y265-2;Q9Y265	.;RUVB1_HUMAN	D	4	ENSP00000318297:E4D;ENSP00000393755:E4D	ENSP00000318297:E4D	E	-	3	2	RUVBL1	129325246	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	2.514000	0.45503	2.267000	0.75376	0.305000	0.20034	GAG		0.612	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2				17	62	0	0	0	0.014323	0	17	62		
CPNE4	131034	broad.mit.edu	37	3	131415421	131415421	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:131415421C>G	ENST00000512055.1	-	9	2598	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	CPNE4_ENST00000429747.1_Missense_Mutation_p.E158Q|CPNE4_ENST00000502818.1_Missense_Mutation_p.E176Q|CPNE4_ENST00000511604.1_Missense_Mutation_p.E158Q|CPNE4_ENST00000512332.1_Missense_Mutation_p.E176Q			Q96A23	CPNE4_HUMAN	copine IV	158	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AATGCAAGCTCAACATAGTCG	0.408																																						uc003eok.2		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(472-474)GAG>CAG		copine IV							186.0	164.0	171.0					3																	131415421		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131415421C>G	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.472G>C	3.37:g.131415421C>G	ENSP00000421705:p.Glu158Gln					CPNE4_uc011blq.1_Missense_Mutation_p.E176Q|CPNE4_uc003eol.2_Missense_Mutation_p.E176Q|CPNE4_uc003eom.2_Missense_Mutation_p.E158Q	p.E158Q	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			5	907	-			158			C2 2.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.472G>C	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192261	0.58017	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881	T;T;T;T;T;T	0.54675	0.57;0.57;0.56;0.57;0.56;1.45	5.61	4.74	0.60224	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.152084	0.64402	D	0.000014	T	0.61223	0.2330	L	0.41632	1.29	0.80722	D	1	D;B	0.69078	0.997;0.25	D;B	0.67382	0.951;0.067	T	0.57579	-0.7787	10	0.27785	T	0.31	-30.4543	14.3791	0.66900	0.0:0.9293:0.0:0.0707	.	176;158	Q96A23-2;Q96A23	.;CPNE4_HUMAN	Q	158;158;176;158;176;158	ENSP00000421705:E158Q;ENSP00000411904:E158Q;ENSP00000424853:E176Q;ENSP00000423811:E158Q;ENSP00000421646:E176Q;ENSP00000425506:E158Q	ENSP00000411904:E158Q	E	-	1	0	CPNE4	132898111	1.000000	0.71417	0.928000	0.36995	0.930000	0.56654	6.865000	0.75500	1.380000	0.46344	0.655000	0.94253	GAG		0.408	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4		NM_130808		60	51	0	0	0	0.01441	0	60	51		
DNAJC13	23317	broad.mit.edu	37	3	132211337	132211337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:132211337C>T	ENST00000260818.6	+	33	3951	c.3703C>T	c.(3703-3705)Cag>Tag	p.Q1235*		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1235					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGCACTTTATCAGTATTGCCC	0.403																																						uc003eor.2		NaN																	0				ovary(1)|breast(1)	2						c.(3703-3705)CAG>TAG		DnaJ (Hsp40) homolog, subfamily C, member 13							217.0	233.0	228.0					3																	132211337		2203	4300	6503	SO:0001587	stop_gained	23317						heat shock protein binding	g.chr3:132211337C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3703C>T	3.37:g.132211337C>T	ENSP00000260818:p.Gln1235*						p.Q1235*	NM_015268	NP_056083	O75165	DJC13_HUMAN			33	3768	+			1235					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Nonsense_Mutation	SNP	ENST00000260818.6	37	c.3703C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	45	11.799216	0.99604	.	.	ENSG00000138246	ENST00000260818	.	.	.	6.03	6.03	0.97812	.	0.132702	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	1235	.	ENSP00000260818:Q1235X	Q	+	1	0	DNAJC13	133694027	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	CAG		0.403	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2		NM_015268		147	176	0	0	0	0.01441	0	147	176		
C3orf36	80111	broad.mit.edu	37	3	133647173	133647173	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:133647173C>G	ENST00000408895.2	-	1	1483	c.475G>C	c.(475-477)Ggc>Cgc	p.G159R		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	159										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						CCCGCTCTGCCTTGAGACTGA	0.517																																						uc003epz.1		NaN																	0				ovary(1)	1						c.(475-477)GGC>CGC		hypothetical protein LOC80111							68.0	75.0	72.0					3																	133647173		2203	4300	6503	SO:0001583	missense	80111							g.chr3:133647173C>G	AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.475G>C	3.37:g.133647173C>G	ENSP00000386219:p.Gly159Arg						p.G159R	NM_025041	NP_079317	Q3SXR2	CC036_HUMAN			1	1484	-			159					Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	c.475G>C	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	C	9.453	1.090987	0.20471	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.25	1.18	0.20946	.	.	.	.	.	T	0.16085	0.0387	N	0.08118	0	0.09310	N	1	P	0.44734	0.842	B	0.43809	0.432	T	0.09907	-1.0653	8	0.87932	D	0	.	3.7128	0.08427	0.0:0.7025:0.0:0.2975	.	159	Q3SXR2	CC036_HUMAN	R	159	.	ENSP00000386219:G159R	G	-	1	0	C3orf36	135129863	0.000000	0.05858	0.012000	0.15200	0.028000	0.11728	-0.085000	0.11250	0.364000	0.24374	0.462000	0.41574	GGC		0.517	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_025041		16	83	0	0	0	0.006122	0	16	83		
SLC25A36	55186	broad.mit.edu	37	3	140675471	140675471	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:140675471G>A	ENST00000324194.6	+	2	312	c.144G>A	c.(142-144)ctG>ctA	p.L48L	SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000453248.2_Silent_p.L48L|SLC25A36_ENST00000446041.2_Silent_p.L48L|SLC25A36_ENST00000507429.1_Silent_p.L48L			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	48					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AAGTTCAGCTGAACACCATGG	0.453																																						uc003etr.2		NaN																	0					0						c.(142-144)CTG>CTA		solute carrier family 25, member 36 isoform a							138.0	131.0	133.0					3																	140675471		2203	4300	6503	SO:0001819	synonymous_variant	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140675471G>A	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.144G>A	3.37:g.140675471G>A						SLC25A36_uc003etp.2_Silent_p.L48L|SLC25A36_uc003ets.2_Silent_p.L48L|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Silent_p.L48L	p.L48L	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN			2	379	+			48			Helical; Name=2; (Potential).|Solcar 1.		A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Silent	SNP	ENST00000324194.6	37	c.144G>A	CCDS46927.1																																																																																				0.453	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1		NM_018155		22	133	0	0	0	0.00333	0	22	133		
PPM1L	151742	broad.mit.edu	37	3	160474178	160474178	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:160474178C>T	ENST00000498165.1	+	1	183	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	PPM1L_ENST00000497343.1_Silent_p.L28L|RP11-16N11.2_ENST00000566372.1_RNA	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	28					MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GACGCTTTTCCTGCTGTGCAT	0.522																																					Pancreas(86;250 1994 13715 43211)	uc003fdr.2		NaN																	0				breast(1)	1						c.(82-84)CTG>TTG		protein phosphatase 1 (formerly 2C)-like							135.0	133.0	134.0					3																	160474178		2203	4300	6503	SO:0001819	synonymous_variant	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160474178C>T	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.82C>T	3.37:g.160474178C>T							p.L28L	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		1	183	+			28			Helical; (Potential).		Q2M3J2|Q96NM7	Silent	SNP	ENST00000498165.1	37	c.82C>T	CCDS33886.1																																																																																				0.522	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1		NM_139245		15	89	0	0	0	0.003163	0	15	89		
WDR49	151790	broad.mit.edu	37	3	167277882	167277882	+	Silent	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:167277882A>G	ENST00000308378.3	-	5	926	c.621T>C	c.(619-621)ctT>ctC	p.L207L	WDR49_ENST00000476376.1_Silent_p.L32L|WDR49_ENST00000453925.2_Silent_p.L260L|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	207										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGCCAGTCAAAAGCCGAGTCT	0.453																																						uc003fev.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(619-621)CTT>CTC		WD repeat domain 49							183.0	168.0	173.0					3																	167277882		2203	4300	6503	SO:0001819	synonymous_variant	151790							g.chr3:167277882A>G	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.621T>C	3.37:g.167277882A>G						WDR49_uc003feu.1_Silent_p.L32L|WDR49_uc011bpd.1_Silent_p.L260L|WDR49_uc003few.1_Intron	p.L207L	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			5	927	-			207			WD 4.		Q8N297	Silent	SNP	ENST00000308378.3	37	c.621T>C	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	7.291	0.611063	0.14066	.	.	ENSG00000174776	ENST00000472600	.	.	.	4.94	3.78	0.43462	.	.	.	.	.	T	0.55481	0.1923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50355	-0.8838	4	.	.	.	.	6.4363	0.21825	0.757:0.1578:0.0852:0.0	.	.	.	.	S	272	.	.	F	-	2	0	WDR49	168760576	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	1.319000	0.33655	0.845000	0.35118	0.482000	0.46254	TTT		0.453	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3		NM_178824		25	150	0	0	0	0.010818	0	25	150		
SLC7A14	57709	broad.mit.edu	37	3	170198742	170198742	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:170198742G>A	ENST00000231706.5	-	7	1644	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	443					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCTCAGACAAGAACTTGACAA	0.512																																						uc003fgz.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1327-1329)TTC>TTT		solute carrier family 7 (cationic amino acid							130.0	115.0	120.0					3																	170198742		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198742G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1329C>T	3.37:g.170198742G>A						CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.F443F	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1645	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		443					B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.1329C>T	CCDS33892.1																																																																																				0.512	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2		NM_020949		49	55	0	0	0	0.01441	0	49	55		
CCDC39	339829	broad.mit.edu	37	3	180397147	180397147	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:180397147C>T	ENST00000442201.2	-	1	141	c.22G>A	c.(22-24)Gag>Aag	p.E8K	CCDC39_ENST00000273654.4_Missense_Mutation_p.E92K|CCDC39-AS1_ENST00000495357.1_RNA	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	8					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)			CAGTGCAGCTCAGCCAGGAAT	0.557																																						uc010hxe.2		NaN																	0				ovary(4)	4						c.(22-24)GAG>AAG		coiled-coil domain containing 39							149.0	147.0	148.0					3																	180397147		1994	4177	6171	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180397147C>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.22G>A	3.37:g.180397147C>T	ENSP00000405708:p.Glu8Lys					CCDC39_uc003fkn.2_RNA	p.E8K	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		1	137	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		8					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.22G>A	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241959	0.79912	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	5.47	5.47	0.80525	.	0.049025	0.85682	D	0.000000	T	0.75700	0.3885	M	0.65975	2.015	0.39744	D	0.971793	D	0.69078	0.997	D	0.64687	0.928	T	0.79090	-0.1946	9	0.72032	D	0.01	-21.0157	14.8059	0.69956	0.0:1.0:0.0:0.0	.	8	Q9UFE4	CCD39_HUMAN	K	92;8	.	ENSP00000273654:E92K	E	-	1	0	CCDC39	181879841	0.999000	0.42202	0.970000	0.41538	0.257000	0.26127	3.989000	0.56958	2.561000	0.86390	0.563000	0.77884	GAG		0.557	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3		XM_291028		140	194	0	0	0	0.01441	0	140	194		
YEATS2	55689	broad.mit.edu	37	3	183432930	183432930	+	Splice_Site	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:183432930A>T	ENST00000305135.5	+	2	176		c.e2-1			NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATTGCTTCACAGTGAAGAACT	0.358																																						uc003fly.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.e2-2		YEATS domain containing 2							89.0	85.0	86.0					3																	183432930		1851	4090	5941	SO:0001630	splice_region_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183432930A>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.-19-1A>T	3.37:g.183432930A>T								NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		2	177	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)							A7E2B9|D3DNS9|Q641P6|Q9NW96	Splice_Site	SNP	ENST00000305135.5	37	c.-18_splice	CCDS43175.1																																																																																				0.358	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2		NM_018023	Intron	40	39	0	0	0	0.007835	0	40	39		
XXYLT1	152002	broad.mit.edu	37	3	194790762	194790762	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr3:194790762G>A	ENST00000310380.6	-	4	972	c.864C>T	c.(862-864)ttC>ttT	p.F288F	XXYLT1_ENST00000429994.1_Silent_p.F142F|XXYLT1_ENST00000356740.5_Silent_p.F82F|XXYLT1_ENST00000355729.4_Silent_p.F85F|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Silent_p.F85F	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	288						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CCCCGCTGTTGAAGCCCGGCA	0.677																																						uc003fum.3		NaN																	0					0						c.(862-864)TTC>TTT		hypothetical protein LOC152002							25.0	30.0	29.0					3																	194790762		1888	4103	5991	SO:0001819	synonymous_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790762G>A	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.864C>T	3.37:g.194790762G>A						C3orf21_uc003ful.2_Silent_p.F85F|C3orf21_uc003fuk.2_Silent_p.F82F	p.F288F	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)	4	972	-	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		288					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	ENST00000310380.6	37	c.864C>T	CCDS43188.1																																																																																				0.677	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1		NM_152531		28	131	0	0	0	0.004878	0	28	131		
GAK	2580	broad.mit.edu	37	4	875739	875739	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:875739G>A	ENST00000314167.4	-	15	1727	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	GAK_ENST00000511163.1_Silent_p.F460F	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	539	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCTTCATGCTGAACATGTACA	0.652																																						uc003gbm.3		NaN																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(1615-1617)TTC>TTT		cyclin G associated kinase							64.0	51.0	55.0					4																	875739		2196	4294	6490	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:875739G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1617C>T	4.37:g.875739G>A						GAK_uc003gbn.3_Silent_p.F460F|GAK_uc010ibk.1_Silent_p.F433F|GAK_uc003gbl.3_Silent_p.F403F	p.F539F	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	15	1816	-			539			Phosphatase tensin-type.		Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.1617C>T	CCDS3340.1																																																																																				0.652	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1		NM_005255		14	10	0	0	0	0.00499	0	14	10		
GAK	2580	broad.mit.edu	37	4	875769	875769	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:875769G>C	ENST00000314167.4	-	15	1697	c.1587C>G	c.(1585-1587)ttC>ttG	p.F529L	GAK_ENST00000511163.1_Missense_Mutation_p.F450L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	529	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCGCGGTGCTGAAGAGACGGC	0.642																																						uc003gbm.3		NaN																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(1585-1587)TTC>TTG		cyclin G associated kinase							57.0	44.0	48.0					4																	875769		2197	4295	6492	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:875769G>C	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1587C>G	4.37:g.875769G>C	ENSP00000314499:p.Phe529Leu					GAK_uc003gbn.3_Missense_Mutation_p.F450L|GAK_uc010ibk.1_Missense_Mutation_p.F423L|GAK_uc003gbl.3_Missense_Mutation_p.F393L	p.F529L	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	15	1786	-			529			Phosphatase tensin-type.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1587C>G	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742741	0.69418	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98381	-4.9;-4.9	5.75	4.02	0.46733	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	M	0.76433	2.335	0.58432	D	0.999998	P;P;D;D	0.69078	0.855;0.897;0.997;0.997	P;P;D;D	0.72075	0.574;0.748;0.976;0.972	D	0.97685	1.0175	10	0.37606	T	0.19	-37.8099	8.3365	0.32217	0.2441:0.0:0.7559:0.0	.	450;450;529;425	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	L	529;450	ENSP00000314499:F529L;ENSP00000421361:F450L	ENSP00000314499:F529L	F	-	3	2	GAK	865769	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	2.761000	0.47589	1.442000	0.47568	-0.140000	0.14226	TTC		0.642	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1		NM_005255		12	8	0	0	0	0.004007	0	12	8		
UVSSA	57654	broad.mit.edu	37	4	1377693	1377693	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:1377693C>T	ENST00000389851.4	+	13	2448	c.2001C>T	c.(1999-2001)acC>acT	p.T667T	UVSSA_ENST00000512728.1_Silent_p.T218T|UVSSA_ENST00000507531.1_Silent_p.T667T|UVSSA_ENST00000511216.1_Silent_p.T667T|UVSSA_ENST00000511563.1_Silent_p.T218T	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	667					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										AGGCTGATACCGCCCGCGCTC	0.642																																						uc003gde.3		NaN																	0					0						c.(1999-2001)ACC>ACT		hypothetical protein LOC57654							85.0	73.0	77.0					4																	1377693		2202	4300	6502	SO:0001819	synonymous_variant	57654							g.chr4:1377693C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.2001C>T	4.37:g.1377693C>T						KIAA1530_uc010ibv.2_Silent_p.T218T	p.T667T	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		13	2448	+			667					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.2001C>T	CCDS33938.1																																																																																				0.642	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1		NM_020894		14	67	0	0	0	0.004007	0	14	67		
MFSD10	10227	broad.mit.edu	37	4	2935298	2935298	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:2935298G>A	ENST00000329687.4	-	2	798	c.264C>T	c.(262-264)ttC>ttT	p.F88F	MFSD10_ENST00000514800.1_Silent_p.F88F|MFSD10_ENST00000507555.1_Silent_p.F88F|NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000508221.1_Silent_p.F88F|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000355443.4_Silent_p.F88F|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000515194.1_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	88					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCATACCTCCGAACAGGACAC	0.632																																						uc003gfw.2		NaN																	0					0						c.(262-264)TTC>TTT		major facilitator superfamily domain containing							58.0	62.0	61.0					4																	2935298		2203	4300	6503	SO:0001819	synonymous_variant	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2935298G>A	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.264C>T	4.37:g.2935298G>A						MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Silent_p.F88F|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.F88F|MFSD10_uc003ggb.1_Silent_p.F88F|MFSD10_uc003ggc.2_Silent_p.F88F|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	p.F88F	NM_001120	NP_001111	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	578	-			88			Helical; (Potential).		Q07706	Silent	SNP	ENST00000329687.4	37	c.264C>T	CCDS3365.1																																																																																				0.632	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2		NM_001120		15	50	0	0	0	0.004007	0	15	50		
JAKMIP1	152789	broad.mit.edu	37	4	6107652	6107652	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:6107652G>A	ENST00000282924.5	-	3	657	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R58C|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R58C|JAKMIP1_ENST00000457227.2_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	58	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTGCTCGCGCTCCAGCTTC	0.672																																						uc003giu.3		NaN																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(172-174)CGC>TGC		janus kinase and microtubule interacting protein							25.0	25.0	25.0					4																	6107652		2143	4235	6378	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107652G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.172C>T	4.37:g.6107652G>A	ENSP00000282924:p.Arg58Cys					JAKMIP1_uc010idb.1_Missense_Mutation_p.R58C|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R58C|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R58C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R58C	p.R58C	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			3	448	-			58			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.172C>T	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926287	0.73327	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000282924;ENST00000409831	T;T;T	0.37058	1.22;1.22;1.22	3.93	3.0	0.34707	.	0.000000	0.64402	D	0.000014	T	0.56016	0.1957	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.984;0.994;0.984	T	0.60156	-0.7318	10	0.87932	D	0	.	9.0887	0.36596	0.0:0.0:0.6061:0.3939	.	58;58;58	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	C	58	ENSP00000386711:R58C;ENSP00000282924:R58C;ENSP00000386925:R58C	ENSP00000282924:R58C	R	-	1	0	JAKMIP1	6158553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.346000	0.59367	2.166000	0.68216	0.484000	0.47621	CGC		0.672	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2		NM_144720		26	45	0	0	0	0.003755	0	26	45		
SLAIN2	57606	broad.mit.edu	37	4	48422313	48422313	+	Missense_Mutation	SNP	C	C	T	rs370977953		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:48422313C>T	ENST00000264313.6	+	7	1950	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	SLAIN2_ENST00000512093.1_Missense_Mutation_p.S344L	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	511					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AGCACAGTCTCAGCAAATCCT	0.522																																						uc003gya.3		NaN																	0					0						c.(1531-1533)TCA>TTA		SLAIN motif family, member 2		C	LEU/SER	0,4094		0,0,2047	160.0	159.0	159.0		1532	4.3	1.0	4		159	1,8419		0,1,4209	no	missense	SLAIN2	NM_020846.1	145	0,1,6256	TT,TC,CC		0.0119,0.0,0.0080	benign	511/582	48422313	1,12513	2047	4210	6257	SO:0001583	missense	57606					centrosome		g.chr4:48422313C>T	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1532C>T	4.37:g.48422313C>T	ENSP00000264313:p.Ser511Leu						p.S511L	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN			7	1676	+			511					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.1532C>T	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	C	1.384	-0.582653	0.03827	0.0	1.19E-4	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	4.35	4.35	0.52113	.	0.371098	0.27826	N	0.017687	T	0.31167	0.0788	N	0.19112	0.55	0.29987	N	0.817179	B	0.02656	0.0	B	0.01281	0.0	T	0.15492	-1.0435	9	0.32370	T	0.25	-0.3329	11.1112	0.48235	0.0:0.9011:0.0:0.0989	.	511	Q9P270	SLAI2_HUMAN	L	511;344	.	ENSP00000264313:S511L	S	+	2	0	SLAIN2	48117070	1.000000	0.71417	0.992000	0.48379	0.008000	0.06430	4.537000	0.60643	2.275000	0.75901	0.557000	0.71058	TCA		0.522	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4		NM_020846		57	103	0	0	0	0.01441	0	57	103		
FRYL	285527	broad.mit.edu	37	4	48553580	48553580	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:48553580C>T	ENST00000503238.1	-	34	4450	c.4451G>A	c.(4450-4452)aGc>aAc	p.S1484N	FRYL_ENST00000537810.1_Missense_Mutation_p.S1484N|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.S1484N|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.S1484N			O94915	FRYL_HUMAN	FRY-like	1484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CATTGTATTGCTACTGGAAGT	0.363																																						uc003gyh.1		NaN																	0				skin(1)	1						c.(4450-4452)AGC>AAC		furry-like							147.0	138.0	141.0					4																	48553580		1849	4090	5939	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48553580C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4451G>A	4.37:g.48553580C>T	ENSP00000426064:p.Ser1484Asn					FRYL_uc003gyk.2_Missense_Mutation_p.S1484N|FRYL_uc003gyg.1_Missense_Mutation_p.S180N|FRYL_uc003gyi.1_Missense_Mutation_p.S373N	p.S1484N	NM_015030	NP_055845	O94915	FRYL_HUMAN			37	5056	-			1484					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.4451G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620974	0.87460	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.52526	1.72;1.72;1.72;0.66	5.63	5.63	0.86233	Armadillo-type fold (1);	0.038763	0.85682	D	0.000000	T	0.65439	0.2691	L	0.60455	1.87	0.80722	D	1	B;D;D;D	0.64830	0.322;0.993;0.994;0.986	B;P;D;D	0.67725	0.247;0.824;0.953;0.951	T	0.59747	-0.7396	10	0.33141	T	0.24	.	19.6732	0.95918	0.0:1.0:0.0:0.0	.	1484;315;1484;1484	F2Z2S2;Q6ZR29;O94915;F5GX82	.;.;FRYL_HUMAN;.	N	1484	ENSP00000426064:S1484N;ENSP00000351113:S1484N;ENSP00000441114:S1484N;ENSP00000421584:S1484N	ENSP00000351113:S1484N	S	-	2	0	FRYL	48248337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.747000	0.68689	2.657000	0.90304	0.591000	0.81541	AGC		0.363	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2				10	58	0	0	0	0.008291	0	10	58		
KIT	3815	broad.mit.edu	37	4	55524222	55524222	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:55524222T>G	ENST00000288135.5	+	1	138	c.41T>G	c.(40-42)cTg>cGg	p.L14R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	14					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCTGCGTTCTGCTCCTACTG	0.667		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		0				soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(40-42)CTG>CGG		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						49.0	51.0	50.0					4																	55524222		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55524222T>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.41T>G	4.37:g.55524222T>G	ENSP00000288135:p.Leu14Arg					KIT_uc010igs.2_Missense_Mutation_p.L14R	p.L14R	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	1	128	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		14					B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.41T>G	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.876583	0.51801	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.79554	-1.28;-1.28	3.46	3.46	0.39613	.	0.715361	0.11487	U	0.559084	T	0.74207	0.3686	N	0.19112	0.55	0.32169	N	0.581939	P;P	0.50617	0.937;0.895	P;B	0.49999	0.628;0.424	T	0.75712	-0.3222	10	0.87932	D	0	.	8.5031	0.33170	0.0:0.0:0.0:1.0	.	14;14	P10721-2;P10721	.;KIT_HUMAN	R	14	ENSP00000288135:L14R;ENSP00000390987:L14R	ENSP00000288135:L14R	L	+	2	0	KIT	55218979	1.000000	0.71417	0.842000	0.33263	0.414000	0.31173	3.730000	0.55006	1.563000	0.49615	0.260000	0.18958	CTG		0.667	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1				24	31	0	0	0	0.004656	0	24	31		
PPAT	5471	broad.mit.edu	37	4	57266984	57266984	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:57266984G>C	ENST00000264220.2	-	8	1117	c.980C>G	c.(979-981)tCt>tGt	p.S327C	PPAT_ENST00000507648.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	327					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	AGGCGTAGCAGATTCTGGAAC	0.458																																						uc003hbr.2		NaN																	0					0						c.(979-981)TCT>TGT		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						146.0	142.0	143.0					4																	57266984		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57266984G>C		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.980C>G	4.37:g.57266984G>C	ENSP00000264220:p.Ser327Cys						p.S327C	NM_002703	NP_002694	Q06203	PUR1_HUMAN			8	1182	-	Glioma(25;0.08)|all_neural(26;0.101)		327				Magnesium (By similarity).		Missense_Mutation	SNP	ENST00000264220.2	37	c.980C>G	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976968	0.92982	.	.	ENSG00000128059	ENST00000264220	D	0.99418	-5.87	5.64	5.64	0.86602	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.96994	0.9724	10	0.87932	D	0	-20.5507	19.6933	0.96010	0.0:0.0:1.0:0.0	.	327	Q06203	PUR1_HUMAN	C	327	ENSP00000264220:S327C	ENSP00000264220:S327C	S	-	2	0	PPAT	56961741	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.208000	0.95075	2.662000	0.90505	0.637000	0.83480	TCT		0.458	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2		NM_002703		36	121	0	0	0	0.004878	0	36	121		
UGT2A1	10941	broad.mit.edu	37	4	70513304	70513304	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:70513304C>A	ENST00000503640.1	-	1	114	c.59G>T	c.(58-60)gGt>gTt	p.G20V	UGT2A1_ENST00000286604.4_Missense_Mutation_p.G20V|UGT2A1_ENST00000512704.1_Missense_Mutation_p.G20V|UGT2A1_ENST00000514019.1_Missense_Mutation_p.G20V	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	20					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AACATTCCCACCAAGAGTGGT	0.383																																						uc003hem.3		NaN																	0				ovary(1)	1						c.(58-60)GGT>GTT		UDP glucuronosyltransferase 2 family,							55.0	53.0	54.0					4																	70513304		2203	4298	6501	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70513304C>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.59G>T	4.37:g.70513304C>A	ENSP00000424478:p.Gly20Val					UGT2A1_uc011caq.1_Missense_Mutation_p.G20V|UGT2A1_uc010ihu.2_Missense_Mutation_p.G20V|UGT2A1_uc010iht.2_Missense_Mutation_p.G20V	p.G20V	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			1	122	-			20					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.59G>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	9.722	1.159914	0.21454	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.67698	-0.04;0.03;-0.28;-0.18;1.69	5.89	4.08	0.47627	.	0.193613	0.43579	D	0.000543	T	0.70842	0.3270	L	0.49513	1.565	.	.	.	D;P;P;P	0.55605	0.972;0.938;0.804;0.912	P;B;B;P	0.53760	0.734;0.351;0.356;0.476	T	0.79659	-0.1711	9	0.59425	D	0.04	.	14.3909	0.66978	0.0:0.5841:0.4159:0.0	.	20;20;20;20	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	V	20	ENSP00000424478:G20V;ENSP00000421432:G20V;ENSP00000425497:G20V;ENSP00000286604:G20V;ENSP00000427709:G20V	ENSP00000286604:G20V	G	-	2	0	UGT2A1	70547893	1.000000	0.71417	0.998000	0.56505	0.303000	0.27691	2.991000	0.49409	1.485000	0.48380	0.650000	0.86243	GGT		0.383	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3		NM_006798		7	12	1	0	0.00448238	0.004482	0.00455262	7	12		
CDKL2	8999	broad.mit.edu	37	4	76529105	76529105	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:76529105T>C	ENST00000429927.2	-	6	1394	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E	CDKL2_ENST00000307465.4_Missense_Mutation_p.K231E	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGGATTTTTATTAAAAAGC	0.388																																						uc003hiq.2		NaN																	0				ovary(2)|stomach(2)|breast(2)|skin(1)	7						c.(691-693)AAA>GAA		cyclin-dependent kinase-like 2							86.0	89.0	88.0					4																	76529105		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76529105T>C	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.691A>G	4.37:g.76529105T>C	ENSP00000412365:p.Lys231Glu					CDKL2_uc011cbp.1_Missense_Mutation_p.K231E|CDKL2_uc010iix.1_RNA	p.K231E	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		6	1216	-			231			Protein kinase.		B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.691A>G	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417370	0.62622	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.64991	-0.13;-0.13	5.14	3.9	0.45041	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.46249	0.1383	N	0.11673	0.155	0.37303	D	0.908765	P;B	0.34522	0.455;0.33	B;B	0.39419	0.207;0.299	T	0.57900	-0.7731	9	0.59425	D	0.04	-24.029	11.3921	0.49820	0.0:0.0:0.1508:0.8492	.	231;231	B4DH08;Q92772	.;CDKL2_HUMAN	E	231	ENSP00000412365:K231E;ENSP00000306340:K231E	ENSP00000306340:K231E	K	-	1	0	CDKL2	76748129	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.829000	0.62737	2.164000	0.68074	0.460000	0.39030	AAA		0.388	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2		NM_003948		10	49	0	0	0	0.010729	0	10	49		
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230498	77230498	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:77230498C>T	ENST00000237642.6	+	2	1166	c.422C>T	c.(421-423)tCa>tTa	p.S141L	FAM47E-STBD1_ENST00000539752.1_5'UTR|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		TCTGAAGTTTCAAGAAATGAA	0.428																																						uc003hka.2		NaN																	0				ovary(1)	1						c.(421-423)TCA>TTA		starch binding domain 1							54.0	55.0	55.0					4																	77230498		2203	4300	6503	SO:0001583	missense	8987				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding	g.chr4:77230498C>T		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.422C>T	4.37:g.77230498C>T	ENSP00000237642:p.Ser141Leu					STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_5'UTR	p.S141L	NM_003943	NP_003934	O95210	STBD1_HUMAN	Lung(101;0.196)		2	668	+			141			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000237642.6	37	c.422C>T	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	C	1.221	-0.626846	0.03610	.	.	ENSG00000118804	ENST00000237642	.	.	.	4.52	1.81	0.25067	.	0.588896	0.14265	N	0.330543	T	0.28995	0.0720	L	0.29908	0.895	0.09310	N	0.999998	B	0.12630	0.006	B	0.08055	0.003	T	0.19257	-1.0311	9	0.48119	T	0.1	0.0733	8.43	0.32753	0.0:0.7139:0.0:0.2861	.	141	O95210	STBD1_HUMAN	L	141	.	ENSP00000237642:S141L	S	+	2	0	STBD1	77449522	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.029000	0.12329	0.252000	0.21531	-0.813000	0.03139	TCA		0.428	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2				7	32	0	0	0	0.00308	0	7	32		
FRAS1	80144	broad.mit.edu	37	4	79295384	79295384	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:79295384C>T	ENST00000325942.6	+	25	3570	c.3130C>T	c.(3130-3132)Cat>Tat	p.H1044Y	FRAS1_ENST00000264895.6_Missense_Mutation_p.H1044Y	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1044					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTTTGCAGATCATGCAAAGCA	0.507																																						uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(3130-3132)CAT>TAT		Fraser syndrome 1							123.0	122.0	122.0					4																	79295384		1951	4161	6112	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79295384C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3130C>T	4.37:g.79295384C>T	ENSP00000326330:p.His1044Tyr					FRAS1_uc003hkw.2_Missense_Mutation_p.H1044Y	p.H1044Y	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			25	3570	+			1043			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.3130C>T	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	0.440	-0.899024	0.02472	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.54279	0.58;0.58	5.94	5.03	0.67393	.	0.565783	0.18992	N	0.125580	T	0.35740	0.0942	N	0.25094	0.71	0.09310	N	0.999995	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.09997	-1.0649	10	0.02654	T	1	.	15.9323	0.79672	0.1435:0.8565:0.0:0.0	.	1044;1044	E9PHH6;A2RRR8	.;.	Y	1044	ENSP00000326330:H1044Y;ENSP00000264895:H1044Y	ENSP00000264895:H1044Y	H	+	1	0	FRAS1	79514408	0.000000	0.05858	0.021000	0.16686	0.003000	0.03518	0.562000	0.23531	2.820000	0.97059	0.650000	0.86243	CAT		0.507	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2				28	111	0	0	0	0.00623	0	28	111		
SEC31A	22872	broad.mit.edu	37	4	83740266	83740266	+	Silent	SNP	G	G	C	rs369954695		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:83740266G>C	ENST00000395310.2	-	27	3806	c.3624C>G	c.(3622-3624)ctC>ctG	p.L1208L	SEC31A_ENST00000311785.7_Silent_p.L1094L|SEC31A_ENST00000500777.2_Silent_p.L1055L|SEC31A_ENST00000326950.5_Silent_p.L1169L|SEC31A_ENST00000508502.1_Silent_p.L1193L|SEC31A_ENST00000432794.1_Silent_p.L1221L|SEC31A_ENST00000448323.1_Silent_p.L1208L|SEC31A_ENST00000513858.1_Silent_p.L1055L|SEC31A_ENST00000348405.4_Silent_p.L1169L|SEC31A_ENST00000443462.2_Silent_p.L1188L|SEC31A_ENST00000505472.1_Silent_p.L1239L|SEC31A_ENST00000355196.2_Silent_p.L1208L|SEC31A_ENST00000264405.5_Silent_p.L957L|SEC31A_ENST00000505984.1_Silent_p.L1154L|SEC31A_ENST00000509142.1_Silent_p.L1094L	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1208					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAACAACTTTGAGAACTGGCA	0.418																																						uc003hnf.2		NaN																SEC31A/JAK2(4)|SEC31A/ALK(3)	0				haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(3622-3624)CTC>CTG		SEC31 homolog A isoform 1							143.0	133.0	136.0					4																	83740266		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83740266G>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3624C>G	4.37:g.83740266G>C						SEC31A_uc003hnd.2_Silent_p.L377L|SEC31A_uc003hne.2_Silent_p.L957L|SEC31A_uc011ccl.1_Silent_p.L1154L|SEC31A_uc003hnl.2_Silent_p.L1055L|SEC31A_uc003hng.2_Silent_p.L1193L|SEC31A_uc003hnh.2_Silent_p.L1208L|SEC31A_uc003hni.2_Silent_p.L1094L|SEC31A_uc003hnj.2_Silent_p.L1169L|SEC31A_uc011ccm.1_Silent_p.L1188L|SEC31A_uc011ccn.1_Silent_p.L1193L|SEC31A_uc003hnk.2_Silent_p.L1169L|SEC31A_uc003hnm.2_Silent_p.L1208L	p.L1208L	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			27	3788	-		Hepatocellular(203;0.114)	1208					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.3624C>G	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.022|0.022	-1.413189|-1.413189	0.01145|0.01145	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000515062|ENST00000503937	.|.	.|.	.|.	5.59|5.59	2.95|2.95	0.34219|0.34219	.|.	.|.	.|.	.|.	.|.	T|.	0.55289|.	0.1911|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48559|.	-0.9025|.	4|.	.|.	.|.	.|.	-11.7534|-11.7534	6.9722|6.9722	0.24654|0.24654	0.2201:0.2399:0.5399:0.0|0.2201:0.2399:0.5399:0.0	.|.	.|.	.|.	.|.	E|X	169|371	.|.	.|.	Q|S	-|-	1|2	0|0	SEC31A|SEC31A	83959290|83959290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.010000|0.010000	0.07245|0.07245	1.285000|1.285000	0.33261|0.33261	0.745000|0.745000	0.32763|0.32763	-0.781000|-0.781000	0.03364|0.03364	CAA|TCA		0.418	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1		NM_016211		17	30	0	0	0	0.006122	0	17	30		
COL25A1	84570	broad.mit.edu	37	4	109790268	109790268	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:109790268G>A	ENST00000399132.1	-	20	1589	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	COL25A1_ENST00000399127.1_Silent_p.G349G|COL25A1_ENST00000399126.1_Silent_p.G353G	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AACCTGGTAAGCCTGGTTCTC	0.343																																						uc003hze.1		NaN																	0				ovary(2)	2						c.(1057-1059)GGC>GGT		collagen, type XXV, alpha 1 isoform 1							77.0	78.0	78.0					4																	109790268		1829	4070	5899	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109790268G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1059C>T	4.37:g.109790268G>A						COL25A1_uc003hzg.2_Silent_p.G353G|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Silent_p.G134G	p.G353G	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	19	1590	-		Hepatocellular(203;0.217)	353			Extracellular (Potential).|Collagen-like 4.			Silent	SNP	ENST00000399132.1	37	c.1059C>T	CCDS43258.1																																																																																				0.343	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2		NM_032518		6	33	0	0	0	0.001984	0	6	33		
TIFA	92610	broad.mit.edu	37	4	113199085	113199085	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:113199085T>C	ENST00000361717.3	-	2	769	c.488A>G	c.(487-489)tAt>tGt	p.Y163C	TIFA_ENST00000500655.2_Missense_Mutation_p.Y163C	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	163					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		ATAAGTGCCATACTCCGGTAT	0.428																																						uc003ial.2		NaN																	0				breast(1)	1						c.(487-489)TAT>TGT		TRAF-interacting protein with a							89.0	91.0	90.0					4																	113199085		2203	4300	6503	SO:0001583	missense	92610						protein binding	g.chr4:113199085T>C	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.488A>G	4.37:g.113199085T>C	ENSP00000354911:p.Tyr163Cys						p.Y163C	NM_052864	NP_443096	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	770	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	163						Missense_Mutation	SNP	ENST00000361717.3	37	c.488A>G	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.481515	0.26598	.	.	ENSG00000145365	ENST00000361717;ENST00000500655	T;T	0.41065	1.01;1.01	5.79	0.436	0.16549	.	1.073890	0.07120	N	0.843680	T	0.21881	0.0527	N	0.11201	0.11	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20874	-1.0262	10	0.42905	T	0.14	-0.0679	3.625	0.08109	0.2569:0.2837:0.0:0.4594	.	163	Q96CG3	TIFA_HUMAN	C	163	ENSP00000354911:Y163C;ENSP00000424231:Y163C	ENSP00000354911:Y163C	Y	-	2	0	TIFA	113418534	0.002000	0.14202	0.009000	0.14445	0.132000	0.20833	0.241000	0.18065	-0.123000	0.11745	0.533000	0.62120	TAT		0.428	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2		NM_052864		9	28	0	0	0	0.004482	0	9	28		
ANK2	287	broad.mit.edu	37	4	114158209	114158209	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:114158209G>C	ENST00000357077.4	+	6	603	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	ANK2_ENST00000264366.6_Missense_Mutation_p.E184Q|ANK2_ENST00000506722.1_Missense_Mutation_p.E163Q|ANK2_ENST00000394537.3_Missense_Mutation_p.E184Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	184					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATCCTCTTGGAGAATGACAC	0.498																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(550-552)GAG>CAG		ankyrin 2 isoform 1							164.0	157.0	159.0					4																	114158209		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114158209G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.550G>C	4.37:g.114158209G>C	ENSP00000349588:p.Glu184Gln					ANK2_uc003ibd.3_Missense_Mutation_p.E163Q|ANK2_uc003ibf.3_Missense_Mutation_p.E184Q|ANK2_uc003ibc.2_Missense_Mutation_p.E160Q|ANK2_uc011cgb.1_Missense_Mutation_p.E199Q	p.E184Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	6	650	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	184			ANK 5.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.550G>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675223	0.88445	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000515034	T;T;T;T;T;T;T;T	0.68181	-0.31;0.53;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.57	5.57	0.84162	Ankyrin repeat-containing domain (4);	0.000000	0.51477	D	0.000082	T	0.78336	0.4267	L	0.42529	1.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.999;0.986;0.999;0.999;0.993	T	0.78969	-0.1994	10	0.72032	D	0.01	.	19.9024	0.96993	0.0:0.0:1.0:0.0	.	184;184;184;163;163	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	Q	163;163;163;199;184;184;184;163;49	ENSP00000423799:E163Q;ENSP00000421011:E163Q;ENSP00000421067:E163Q;ENSP00000424722:E199Q;ENSP00000378044:E184Q;ENSP00000349588:E184Q;ENSP00000264366:E184Q;ENSP00000421059:E49Q	ENSP00000264366:E184Q	E	+	1	0	ANK2	114377658	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.813000	0.99286	2.775000	0.95449	0.650000	0.86243	GAG		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		44	176	0	0	0	0.01441	0	44	176		
FAT4	79633	broad.mit.edu	37	4	126412206	126412206	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:126412206C>A	ENST00000394329.3	+	17	14242	c.14229C>A	c.(14227-14229)ttC>ttA	p.F4743L	FAT4_ENST00000335110.5_Missense_Mutation_p.F2984L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4743	Necessary and sufficient for interaction with MPDZ. {ECO:0000250}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGGCATTTTCAACTATGCCA	0.498																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(14227-14229)TTC>TTA		FAT tumor suppressor homolog 4 precursor							64.0	63.0	63.0					4																	126412206		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412206C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14229C>A	4.37:g.126412206C>A	ENSP00000377862:p.Phe4743Leu					FAT4_uc011cgp.1_Missense_Mutation_p.F2984L|FAT4_uc003ifi.1_Missense_Mutation_p.F2220L	p.F4743L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	14229	+			4743			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14229C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	2.022	-0.424613	0.04734	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.74632	-0.68;-0.86	4.87	3.05	0.35203	.	0.000000	0.36338	U	0.002641	T	0.61426	0.2346	N	0.16790	0.44	0.43835	D	0.996413	D;D;D	0.58268	0.982;0.97;0.982	P;P;P	0.54889	0.763;0.584;0.763	T	0.62445	-0.6853	10	0.02654	T	1	.	7.1479	0.25593	0.0:0.7106:0.0:0.2894	.	2984;4743;4742	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	4743;2984	ENSP00000377862:F4743L;ENSP00000335169:F2984L	ENSP00000335169:F2984L	F	+	3	2	FAT4	126631656	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	0.856000	0.27818	0.417000	0.25871	0.561000	0.74099	TTC		0.498	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		13	69	1	0	3.27435e-08	0.00245	3.39827e-08	13	69		
PLK4	10733	broad.mit.edu	37	4	128804637	128804637	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:128804637T>C	ENST00000270861.5	+	4	540	c.266T>C	c.(265-267)tTa>tCa	p.L89S	PLK4_ENST00000507249.1_Missense_Mutation_p.L89S|PLK4_ENST00000513090.1_Missense_Mutation_p.L57S|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000515069.1_Missense_Mutation_p.L89S|PLK4_ENST00000514379.1_Missense_Mutation_p.L48S	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	89	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TATCTGGTATTAGAAATGTGC	0.308																																					Colon(135;508 1718 19061 31832 42879)	uc003ifo.2		NaN																	0					0						c.(265-267)TTA>TCA		polo-like kinase 4							64.0	69.0	68.0					4																	128804637		2203	4296	6499	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128804637T>C	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.266T>C	4.37:g.128804637T>C	ENSP00000270861:p.Leu89Ser					PLK4_uc011cgs.1_Missense_Mutation_p.L57S|PLK4_uc011cgt.1_Missense_Mutation_p.L48S	p.L89S	NM_014264	NP_055079	O00444	PLK4_HUMAN			4	511	+			89			Protein kinase.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.266T>C	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634693	0.87660	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.55641	0.1933	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62421	-0.6858	10	0.87932	D	0	-4.4792	15.839	0.78831	0.0:0.0:0.0:1.0	.	57;89	O00444-2;O00444	.;PLK4_HUMAN	S	89;89;57;89;48	ENSP00000270861:L89S;ENSP00000421774:L89S;ENSP00000427554:L57S;ENSP00000423412:L89S;ENSP00000423582:L48S	ENSP00000270861:L89S	L	+	2	0	PLK4	129024087	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.702000	0.84576	2.130000	0.65690	0.533000	0.62120	TTA		0.308	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3				18	27	0	0	0	0.014323	0	18	27		
ARFIP1	27236	broad.mit.edu	37	4	153831239	153831239	+	Silent	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:153831239G>T	ENST00000451320.2	+	9	1154	c.990G>T	c.(988-990)ctG>ctT	p.L330L	ARFIP1_ENST00000405727.2_Silent_p.L298L|ARFIP1_ENST00000353617.2_Silent_p.L330L|ARFIP1_ENST00000356064.3_Silent_p.L298L|ARFIP1_ENST00000429148.2_Silent_p.L150L			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	330	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					ACAATCAGCTGGTCCTTTTCC	0.403																																						uc003imz.2		NaN																	0				ovary(1)	1						c.(988-990)CTG>CTT		ADP-ribosylation factor interacting protein 1							144.0	139.0	141.0					4																	153831239		2203	4300	6503	SO:0001819	synonymous_variant	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153831239G>T	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.990G>T	4.37:g.153831239G>T						ARFIP1_uc003inb.2_Silent_p.L298L|ARFIP1_uc003ina.2_Silent_p.L298L|ARFIP1_uc003inc.2_Silent_p.L330L|ARFIP1_uc011cij.1_Silent_p.L150L	p.L330L	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN			9	1266	+	all_hematologic(180;0.093)		330			AH.		Q2M2X4|Q3SYL4|Q9Y2X6	Silent	SNP	ENST00000451320.2	37	c.990G>T	CCDS34080.1																																																																																				0.403	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1		NM_014447		68	104	1	0	1.4051e-37	0.01441	1.53186e-37	68	104		
KIAA0922	23240	broad.mit.edu	37	4	154506049	154506049	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:154506049C>T	ENST00000409663.3	+	12	1172	c.1120C>T	c.(1120-1122)Cta>Tta	p.L374L	KIAA0922_ENST00000409959.3_Silent_p.L375L|KIAA0922_ENST00000440693.1_Silent_p.L375L	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	374						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CACTCCAACACTAAAAGCATG	0.393																																						uc003inm.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1120-1122)CTA>TTA		hypothetical protein LOC23240 isoform 2							200.0	160.0	174.0					4																	154506049		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154506049C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1120C>T	4.37:g.154506049C>T						KIAA0922_uc010ipp.2_Silent_p.L375L|KIAA0922_uc010ipq.2_Silent_p.L227L|KIAA0922_uc010ips.1_5'UTR	p.L374L	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			12	1172	+	all_hematologic(180;0.093)	Renal(120;0.118)	374			Extracellular (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.1120C>T	CCDS3783.2																																																																																				0.393	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1		NM_015196		25	43	0	0	0	0.010818	0	25	43		
RNF175	285533	broad.mit.edu	37	4	154669807	154669807	+	Missense_Mutation	SNP	C	C	G	rs569808365		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:154669807C>G	ENST00000347063.4	-	3	608	c.236G>C	c.(235-237)cGa>cCa	p.R79P	RNF175_ENST00000506505.1_5'UTR|RNF175_ENST00000274068.4_Missense_Mutation_p.D3H	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	79						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				ATTGTAGGATCGGCCATGCCT	0.532																																						uc003int.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(235-237)CGA>CCA		ring finger protein 175																																				SO:0001583	missense	285533					integral to membrane	zinc ion binding	g.chr4:154669807C>G	BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.236G>C	4.37:g.154669807C>G	ENSP00000340979:p.Arg79Pro					RNF175_uc003inu.1_Missense_Mutation_p.D3H	p.R79P	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN			3	609	-	all_hematologic(180;0.093)	Renal(120;0.118)	79					C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	c.236G>C	CCDS47149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.508|4.508	0.094225|0.094225	0.08632|0.08632	.|.	.|.	ENSG00000145428|ENSG00000145428	ENST00000274068|ENST00000347063	T|T	0.54479|0.69435	0.57|-0.4	4.27|4.27	0.559|0.559	0.17272|0.17272	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.70833|0.70833	0.3269|0.3269	M|M	0.73217|0.73217	2.22|2.22	0.09310|0.09310	N|N	1|1	P|D	0.47191|0.58268	0.891|0.982	P|P	0.45998|0.60286	0.5|0.872	T|T	0.61123|0.61123	-0.7126|-0.7126	9|10	0.87932|0.72032	D|D	0|0.01	-11.1606|-11.1606	3.0352|3.0352	0.06119|0.06119	0.1429:0.5515:0.1388:0.1668|0.1429:0.5515:0.1388:0.1668	.|.	3|79	Q8NB61|Q8N4F7	.|RN175_HUMAN	H|P	3|79	ENSP00000274068:D3H|ENSP00000340979:R79P	ENSP00000274068:D3H|ENSP00000340979:R79P	D|R	-|-	1|2	0|0	RNF175|RNF175	154889257|154889257	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.065000|0.065000	0.16274|0.16274	-0.156000|-0.156000	0.10100|0.10100	0.054000|0.054000	0.16065|0.16065	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.532	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1		NM_173662		4	16	0	0	0	0.000602	0	4	16		
DCHS2	54798	broad.mit.edu	37	4	155158295	155158295	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:155158295G>C	ENST00000357232.4	-	25	6143	c.6144C>G	c.(6142-6144)atC>atG	p.I2048M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2048	Cadherin 18. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATACGGGACTGATAGTAAATA	0.383																																						uc003inw.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(6142-6144)ATC>ATG		dachsous 2 isoform 1							61.0	62.0	62.0					4																	155158295		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155158295G>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6144C>G	4.37:g.155158295G>C	ENSP00000349768:p.Ile2048Met						p.I2048M	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6144	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2048			Cadherin 18.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6144C>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	6.454	0.451917	0.12283	.	.	ENSG00000197410	ENST00000357232	T	0.51817	0.69	5.82	3.07	0.35406	Cadherin (4);Cadherin-like (1);	1.122880	0.06561	N	0.746704	T	0.43233	0.1238	L	0.33485	1.01	0.09310	N	1	P	0.47545	0.897	P	0.48030	0.564	T	0.22626	-1.0211	10	0.46703	T	0.11	.	4.5644	0.12175	0.342:0.2878:0.3701:0.0	.	2048	Q6V1P9	PCD23_HUMAN	M	2048	ENSP00000349768:I2048M	ENSP00000349768:I2048M	I	-	3	3	DCHS2	155377745	0.000000	0.05858	0.000000	0.03702	0.368000	0.29767	0.808000	0.27154	0.332000	0.23536	0.557000	0.71058	ATC		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552		14	17	0	0	0	0.00499	0	14	17		
FGG	2266	broad.mit.edu	37	4	155533181	155533181	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:155533181G>A	ENST00000336098.3	-	3	334	c.296C>T	c.(295-297)tCa>tTa	p.S99L	FGG_ENST00000405164.1_Missense_Mutation_p.S99L|FGG_ENST00000407946.1_Missense_Mutation_p.S99L|FGG_ENST00000404648.3_Missense_Mutation_p.S99L	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	99					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGGTTTTGATGATTCATCAGG	0.308																																						uc003ioj.2		NaN																	0					0						c.(295-297)TCA>TTA		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)						169.0	153.0	159.0					4																	155533181		2202	4299	6501	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155533181G>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.296C>T	4.37:g.155533181G>A	ENSP00000336829:p.Ser99Leu					FGG_uc003iog.2_Missense_Mutation_p.S99L|FGG_uc003ioh.2_Missense_Mutation_p.S99L|FGG_uc010ipx.2_5'UTR|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'Flank|FGG_uc003iok.2_Missense_Mutation_p.S99L	p.S99L	NM_021870	NP_068656	P02679	FIBG_HUMAN			3	437	-	all_hematologic(180;0.215)	Renal(120;0.0458)	99					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.296C>T	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499391	0.26861	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.87	4.15	0.48705	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.539812	0.22360	N	0.061085	T	0.69620	0.3131	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.0	T	0.58719	-0.7587	10	0.42905	T	0.14	.	8.4675	0.32964	0.1361:0.0:0.7309:0.133	.	99;99;99;99	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	L	99	ENSP00000384860:S99L;ENSP00000384101:S99L;ENSP00000336829:S99L;ENSP00000384552:S99L	ENSP00000336829:S99L	S	-	2	0	FGG	155752631	0.002000	0.14202	0.002000	0.10522	0.076000	0.17211	1.112000	0.31172	0.938000	0.37419	0.655000	0.94253	TCA		0.308	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1		NM_021870		4	21	0	0	0	0.000602	0	4	21		
GUCY1B3	2983	broad.mit.edu	37	4	156723650	156723650	+	Missense_Mutation	SNP	G	G	A	rs375887212		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:156723650G>A	ENST00000264424.8	+	10	1414	c.1332G>A	c.(1330-1332)atG>atA	p.M444I	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.M466I|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.M424I|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.M411I|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.M376I|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.M376I|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.M419I	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	444	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAGGAGCCATGAAGATCGTCA	0.453																																						uc003ipc.2		NaN																	0					0						c.(1330-1332)ATG>ATA		guanylate cyclase 1, soluble, beta 3							86.0	87.0	87.0					4																	156723650		2048	4206	6254	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156723650G>A	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1332G>A	4.37:g.156723650G>A	ENSP00000264424:p.Met444Ile					GUCY1B3_uc011cio.1_Missense_Mutation_p.M466I|GUCY1B3_uc011cip.1_Missense_Mutation_p.M424I|GUCY1B3_uc003ipd.2_Missense_Mutation_p.M372I|GUCY1B3_uc010iqf.2_Missense_Mutation_p.M411I|GUCY1B3_uc010iqg.2_Missense_Mutation_p.M415I|GUCY1B3_uc011ciq.1_Missense_Mutation_p.M372I	p.M444I	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	10	1499	+	all_hematologic(180;0.24)	Renal(120;0.0854)	444			Guanylate cyclase.		B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.1332G>A	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.883009	0.33255	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.9	5.9	0.94986	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.038749	0.85682	D	0.000000	T	0.79992	0.4542	L	0.58669	1.825	0.52099	D	0.999949	B;B;B;B;B	0.13594	0.008;0.004;0.002;0.003;0.001	B;B;B;B;B	0.17979	0.013;0.02;0.01;0.007;0.009	T	0.72821	-0.4177	10	0.33141	T	0.24	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	424;466;419;411;444	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	I	376;466;424;419;444;411;376	ENSP00000427226:M376I;ENSP00000426786:M466I;ENSP00000426319:M424I;ENSP00000422313:M419I;ENSP00000264424:M444I;ENSP00000420842:M411I;ENSP00000425065:M376I	ENSP00000264424:M444I	M	+	3	0	GUCY1B3	156943100	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.828000	0.62730	2.788000	0.95919	0.650000	0.86243	ATG		0.453	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2				3	25	0	0	0	0.004672	0	3	25		
DDX60L	91351	broad.mit.edu	37	4	169374324	169374324	+	Missense_Mutation	SNP	C	C	G	rs577892658		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:169374324C>G	ENST00000511577.1	-	8	1194	c.947G>C	c.(946-948)cGa>cCa	p.R316P	DDX60L_ENST00000260184.7_Missense_Mutation_p.R316P|DDX60L_ENST00000505890.1_Missense_Mutation_p.R316P			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	316							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGTGATGACTCGAGAACAAGC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		20671	0.0		0.001	False		,,,				2504	0.0					uc003irq.3		NaN																	0				ovary(1)	1						c.(946-948)CGA>CCA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							87.0	88.0	87.0					4																	169374324		1933	4129	6062	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169374324C>G	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.947G>C	4.37:g.169374324C>G	ENSP00000422423:p.Arg316Pro					DDX60L_uc003irr.1_Missense_Mutation_p.R316P|DDX60L_uc003irs.1_Missense_Mutation_p.R43P	p.R316P	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	8	1168	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	316					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.947G>C		.	.	.	.	.	.	.	.	.	.	C	16.17	3.046698	0.55110	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.36340	1.26;1.26;1.26;1.85	3.11	3.11	0.35812	.	0.000000	0.31134	U	0.008188	T	0.54711	0.1875	M	0.69358	2.11	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.42982	-0.9419	10	0.62326	D	0.03	.	11.2232	0.48869	0.0:1.0:0.0:0.0	.	316;316;316	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	P	316;316;316;44	ENSP00000260184:R316P;ENSP00000422423:R316P;ENSP00000422202:R316P;ENSP00000421026:R44P	ENSP00000260184:R316P	R	-	2	0	DDX60L	169610899	0.034000	0.19679	0.029000	0.17559	0.436000	0.31835	3.875000	0.56108	1.410000	0.46936	0.467000	0.42956	CGA		0.408	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1		NM_001012967		35	39	0	0	0	0.006999	0	35	39		
TRAPPC11	60684	broad.mit.edu	37	4	184607795	184607795	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:184607795C>T	ENST00000334690.6	+	18	1989	c.1787C>T	c.(1786-1788)gCc>gTc	p.A596V	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.A202V|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.A596V	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	596					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											AAGTTTCATGCCCCAAGTTTT	0.413																																						uc003ivx.2		NaN																	0					0						c.(1786-1788)GCC>GTC		hypothetical protein LOC60684 isoform a							476.0	441.0	453.0					4																	184607795		2203	4300	6503	SO:0001583	missense	60684							g.chr4:184607795C>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1787C>T	4.37:g.184607795C>T	ENSP00000335371:p.Ala596Val					C4orf41_uc003ivw.2_Missense_Mutation_p.A596V|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Missense_Mutation_p.A202V	p.A596V	NM_021942	NP_068761	Q7Z392	CD041_HUMAN		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)	18	1963	+		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	596					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.1787C>T	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840365	0.71488	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.45	5.45	0.79879	.	0.101452	0.64402	D	0.000002	T	0.57844	0.2081	N	0.25647	0.755	0.58432	D	0.999996	P;B;B	0.47253	0.892;0.021;0.017	P;B;B	0.51055	0.657;0.009;0.005	T	0.54860	-0.8230	9	0.33940	T	0.23	.	19.2701	0.94006	0.0:1.0:0.0:0.0	.	202;596;596	D6RHE5;Q7Z392;Q7Z392-3	.;TPC11_HUMAN;.	V	596;596;596;202	.	ENSP00000335371:A596V	A	+	2	0	C4orf41	184844789	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.487000	0.81328	2.559000	0.86315	0.467000	0.42956	GCC		0.413	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2		NM_021942		75	151	0	0	0	0.01441	0	75	151		
F11	2160	broad.mit.edu	37	4	187206844	187206844	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:187206844G>C	ENST00000403665.2	+	12	1709	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	F11_ENST00000264692.4_Missense_Mutation_p.E401Q|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	453	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AAATCAATCTGAAATAAAAGA	0.348																																						uc003iza.1		NaN																	0					0						c.(1357-1359)GAA>CAA		coagulation factor XI precursor	Coagulation Factor IX(DB00100)						115.0	117.0	117.0					4																	187206844		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187206844G>C	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1357G>C	4.37:g.187206844G>C	ENSP00000384957:p.Glu453Gln						p.E453Q	NM_000128	NP_000119	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	12	1690	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	453			Peptidase S1.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.1357G>C	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447110	0.43429	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.88664	-2.41;-2.41	4.87	4.87	0.63330	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.158682	0.44097	D	0.000481	T	0.76543	0.4002	N	0.03608	-0.345	0.35366	D	0.788614	B	0.27351	0.176	B	0.29862	0.108	T	0.80339	-0.1424	10	0.59425	D	0.04	.	11.6556	0.51315	0.0813:0.0:0.9187:0.0	.	453	P03951	FA11_HUMAN	Q	453;401	ENSP00000384957:E453Q;ENSP00000264692:E401Q	ENSP00000264692:E401Q	E	+	1	0	F11	187443838	0.998000	0.40836	0.998000	0.56505	0.991000	0.79684	2.882000	0.48546	2.508000	0.84585	0.655000	0.94253	GAA		0.348	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4				10	44	0	0	0	0.001855	0	10	44		
ZFP42	132625	broad.mit.edu	37	4	188924151	188924151	+	Missense_Mutation	SNP	G	G	C	rs201496236		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr4:188924151G>C	ENST00000326866.4	+	4	598	c.190G>C	c.(190-192)Gga>Cga	p.G64R	ZFP42_ENST00000509524.1_Missense_Mutation_p.G64R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	64					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCAGGCTCTCGGAGGGGATGA	0.507																																						uc003izg.1		NaN																	0				ovary(1)|skin(1)	2						c.(190-192)GGA>CGA		zinc finger protein 42							100.0	92.0	95.0					4																	188924151		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924151G>C	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.190G>C	4.37:g.188924151G>C	ENSP00000317686:p.Gly64Arg					ZFP42_uc003izh.1_Missense_Mutation_p.G64R|ZFP42_uc003izi.1_Missense_Mutation_p.G64R	p.G64R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	435	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	64					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.190G>C	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.537872	0.45176	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.65364	-0.15;-0.15	4.52	2.81	0.32909	.	0.238817	0.33382	U	0.004978	T	0.47911	0.1471	L	0.46157	1.445	0.09310	N	1	P	0.46220	0.874	B	0.41466	0.358	T	0.33471	-0.9867	10	0.13108	T	0.6	.	6.5888	0.22636	0.2869:0.0:0.7131:0.0	.	64	Q96MM3	ZFP42_HUMAN	R	64	ENSP00000317686:G64R;ENSP00000424662:G64R	ENSP00000317686:G64R	G	+	1	0	ZFP42	189161145	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.202000	0.17295	0.851000	0.35264	0.655000	0.94253	GGA		0.507	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1		NM_174900		6	47	0	0	0	0.00308	0	6	47		
LRRC14B	389257	broad.mit.edu	37	5	195402	195402	+	Silent	SNP	T	T	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:195402T>G	ENST00000328278.3	+	2	1507	c.1479T>G	c.(1477-1479)gcT>gcG	p.A493A	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	493										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						AGCTTGGTGCTTTCTTGCTGC	0.483																																						uc003jal.1		NaN																	0				skin(1)	1						c.(1477-1479)GCT>GCG		leucine rich repeat containing 14B							66.0	70.0	68.0					5																	195402		2030	4180	6210	SO:0001819	synonymous_variant	389257							g.chr5:195402T>G		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1479T>G	5.37:g.195402T>G							p.A493A	NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN			2	1507	+			493						Silent	SNP	ENST00000328278.3	37	c.1479T>G	CCDS47184.1																																																																																				0.483	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2		NM_001080478		14	123	0	0	0	0.001855	0	14	123		
ICE1	23379	broad.mit.edu	37	5	5464730	5464730	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:5464730C>T	ENST00000296564.7	+	13	5505	c.5283C>T	c.(5281-5283)gcC>gcT	p.A1761A		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1761					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						AGTTATCTGCCAGGGCCCGGA	0.547																																						uc003jdm.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5281-5283)GCC>GCT		hypothetical protein LOC23379							34.0	34.0	34.0					5																	5464730		1932	4121	6053	SO:0001819	synonymous_variant	23379							g.chr5:5464730C>T																												ENST00000296564.7:c.5283C>T	5.37:g.5464730C>T							p.A1761A	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	5505	+			1761					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.5283C>T	CCDS47187.1																																																																																				0.547	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1				16	20	0	0	0	0.006122	0	16	20		
TARS	6897	broad.mit.edu	37	5	33459811	33459811	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:33459811G>A	ENST00000265112.3	+	11	1406	c.1095G>A	c.(1093-1095)agG>agA	p.R365R	TARS_ENST00000414361.2_Silent_p.R244R|TARS_ENST00000541634.1_Silent_p.R261R|TARS_ENST00000455217.2_Silent_p.R398R|TARS_ENST00000502553.1_Silent_p.R365R	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	365					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GCGAATATAGGAAAAGAGGAT	0.423																																						uc003jhy.2		NaN																	0				ovary(2)	2						c.(1093-1095)AGG>AGA		threonyl-tRNA synthetase	L-Threonine(DB00156)						68.0	72.0	71.0					5																	33459811		2203	4300	6503	SO:0001819	synonymous_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33459811G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1095G>A	5.37:g.33459811G>A						TARS_uc011cob.1_Silent_p.R353R|TARS_uc010iup.1_Silent_p.R306R|TARS_uc011coc.1_Silent_p.R386R|TARS_uc003jhz.2_Silent_p.R261R|TARS_uc011cod.1_Silent_p.R244R	p.R365R	NM_152295	NP_689508	P26639	SYTC_HUMAN			11	1390	+			365					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Silent	SNP	ENST00000265112.3	37	c.1095G>A	CCDS3899.1																																																																																				0.423	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1		NM_152295		69	57	0	0	0	0.01441	0	69	57		
NUP155	9631	broad.mit.edu	37	5	37324164	37324164	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:37324164C>G	ENST00000231498.3	-	20	2340	c.2137G>C	c.(2137-2139)Gaa>Caa	p.E713Q	NUP155_ENST00000513532.1_Missense_Mutation_p.E713Q|NUP155_ENST00000381843.2_Missense_Mutation_p.E654Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	713					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|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 pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCTTTAGTTCTTGTAGCACT	0.358																																						uc003jku.1		NaN																	0				ovary(1)	1						c.(2137-2139)GAA>CAA		nucleoporin 155kDa isoform 1							78.0	79.0	78.0					5																	37324164		2203	4299	6502	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37324164C>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2137G>C	5.37:g.37324164C>G	ENSP00000231498:p.Glu713Gln					NUP155_uc003jkt.1_Missense_Mutation_p.E654Q|NUP155_uc010iuz.1_Missense_Mutation_p.E713Q	p.E713Q	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		20	2255	-	all_lung(31;0.000137)		713					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.2137G>C	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539702	0.65085	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.77358	-1.09;-1.09;-1.09	5.78	5.78	0.91487	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.044902	0.85682	D	0.000000	T	0.70150	0.3191	N	0.22421	0.69	0.58432	D	0.999999	B;B	0.29766	0.256;0.019	B;B	0.37091	0.241;0.05	T	0.64183	-0.6467	10	0.10377	T	0.69	.	20.01	0.97447	0.0:1.0:0.0:0.0	.	713;713	E9PF10;O75694	.;NU155_HUMAN	Q	713;654;675;713	ENSP00000231498:E713Q;ENSP00000371265:E654Q;ENSP00000422019:E713Q	ENSP00000231498:E713Q	E	-	1	0	NUP155	37359921	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	5.161000	0.64935	2.725000	0.93324	0.655000	0.94253	GAA		0.358	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2		NM_153485, NM_004298		54	59	0	0	0	0.01441	0	54	59		
EGFLAM	133584	broad.mit.edu	37	5	38418241	38418241	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:38418241G>C	ENST00000354891.3	+	12	1914	c.1568G>C	c.(1567-1569)aGa>aCa	p.R523T	EGFLAM_ENST00000336740.6_Missense_Mutation_p.R289T|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R523T	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	523	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGTTGGTTAGAGCAACAGGG	0.512																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NaN																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(1567-1569)AGA>ACA		EGF-like, fibronectin type III and laminin G							96.0	99.0	98.0					5																	38418241		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38418241G>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1568G>C	5.37:g.38418241G>C	ENSP00000346964:p.Arg523Thr					EGFLAM_uc003jlb.1_Missense_Mutation_p.R523T|EGFLAM_uc003jle.1_Missense_Mutation_p.R289T|EGFLAM_uc003jlf.1_Intron	p.R523T	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			12	1892	+	all_lung(31;0.000385)		523			Laminin G-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1568G>C	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504459	0.64410	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.76709	-1.04;-1.04;-1.04	5.78	4.88	0.63580	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.148471	0.64402	D	0.000011	D	0.82669	0.5087	L	0.58583	1.82	0.80722	D	1	P;P;P	0.48294	0.835;0.908;0.541	P;P;P	0.61275	0.571;0.886;0.448	T	0.80973	-0.1143	10	0.36615	T	0.2	-1.9129	10.0464	0.42188	0.0714:0.1388:0.7898:0.0	.	289;523;523	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	T	523;523;289;289	ENSP00000346964:R523T;ENSP00000313084:R523T;ENSP00000337607:R289T	ENSP00000313084:R523T	R	+	2	0	EGFLAM	38453998	1.000000	0.71417	0.989000	0.46669	0.962000	0.63368	2.621000	0.46418	1.374000	0.46228	0.557000	0.71058	AGA		0.512	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1		NM_152403		26	172	0	0	0	0.005443	0	26	172		
OSMR	9180	broad.mit.edu	37	5	38869153	38869153	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:38869153C>G	ENST00000274276.3	+	2	409	c.7C>G	c.(7-9)Cta>Gta	p.L3V	OSMR_ENST00000502536.1_Missense_Mutation_p.L3V	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	3					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ACTGATGGCTCTATTTGCAGT	0.338																																						uc003jln.1		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(7-9)CTA>GTA		oncostatin M receptor precursor							94.0	97.0	96.0					5																	38869153		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38869153C>G	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.7C>G	5.37:g.38869153C>G	ENSP00000274276:p.Leu3Val					OSMR_uc003jlm.1_Missense_Mutation_p.L3V	p.L3V	NM_003999	NP_003990	Q99650	OSMR_HUMAN			2	374	+	all_lung(31;0.000365)		3					Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.7C>G	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.027018	0.19512	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.57595	0.39;0.95	4.84	-9.69	0.00524	.	15.288900	0.00166	N	0.000001	T	0.34745	0.0908	N	0.20685	0.6	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.12243	-1.0555	10	0.28530	T	0.3	.	12.8298	0.57740	0.0:0.1093:0.6165:0.2743	.	3;3	Q99650;Q99650-2	OSMR_HUMAN;.	V	3	ENSP00000422023:L3V;ENSP00000274276:L3V	ENSP00000274276:L3V	L	+	1	2	OSMR	38904910	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.416000	0.01035	-2.037000	0.00920	-0.140000	0.14226	CTA		0.338	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2		NM_003999		67	57	0	0	0	0.01441	0	67	57		
HCN1	348980	broad.mit.edu	37	5	45353208	45353208	+	Silent	SNP	C	C	G	rs561869170		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:45353208C>G	ENST00000303230.4	-	5	1428	c.1371G>C	c.(1369-1371)ctG>ctC	p.L457L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.L457L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTACCTCTCTCAGAGGATCAT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		17524	0.0		0.0	False		,,,				2504	0.001					uc003jok.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1369-1371)CTG>CTC		hyperpolarization activated cyclic							107.0	99.0	102.0					5																	45353208		2201	4296	6497	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45353208C>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1371G>C	5.37:g.45353208C>G							p.L457L	NM_021072	NP_066550	O60741	HCN1_HUMAN			5	1396	-			457			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.1371G>C	CCDS3952.1																																																																																				0.343	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072		7	71	0	0	0	0.004482	0	7	71		
IPO11	51194	broad.mit.edu	37	5	61733234	61733234	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:61733234C>T	ENST00000325324.6	+	2	297	c.128C>T	c.(127-129)tCa>tTa	p.S43L	IPO11_ENST00000409296.3_Missense_Mutation_p.S83L|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	43	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GGTTTCTATTCAGTGTTGCTG	0.378																																						uc003jtc.2		NaN																	0				lung(2)|skin(2)	4						c.(127-129)TCA>TTA		Ran binding protein 11 isoform 2							127.0	115.0	119.0					5																	61733234		2203	4300	6503	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61733234C>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.128C>T	5.37:g.61733234C>T	ENSP00000316651:p.Ser43Leu					IPO11_uc011cqr.1_Missense_Mutation_p.S83L|IPO11_uc003jtb.1_Missense_Mutation_p.S43L	p.S43L	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	2	318	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	43			Importin N-terminal.		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.128C>T	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255458	0.39896	.	.	ENSG00000086200	ENST00000514647;ENST00000505902;ENST00000325324;ENST00000506200;ENST00000409296	T;T;T;T;T	0.65732	-0.17;3.62;-0.17;-0.17;-0.17	4.98	4.98	0.66077	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.065827	0.64402	D	0.000006	T	0.46425	0.1392	N	0.16307	0.4	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.15484	0.013;0.008	T	0.38779	-0.9645	10	0.11485	T	0.65	.	18.4577	0.90727	0.0:1.0:0.0:0.0	.	83;43	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	L	43;43;43;43;83	ENSP00000427129:S43L;ENSP00000425573:S43L;ENSP00000316651:S43L;ENSP00000427274:S43L;ENSP00000386992:S83L	ENSP00000316651:S43L	S	+	2	0	IPO11	61768991	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.811000	0.69187	2.574000	0.86865	0.563000	0.77884	TCA		0.378	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1		NM_016338		19	25	0	0	0	0.010504	0	19	25		
POLK	51426	broad.mit.edu	37	5	74892219	74892219	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:74892219C>G	ENST00000241436.4	+	13	1873	c.1701C>G	c.(1699-1701)ttC>ttG	p.F567L	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.F369L|POLK_ENST00000380481.3_Missense_Mutation_p.F477L|POLK_ENST00000352007.5_Missense_Mutation_p.F369L|POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	567					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGAAGAGTTTCTTTGATAAAA	0.373								DNA polymerases (catalytic subunits)																														uc003kdw.2		NaN																	0				ovary(2)|kidney(2)	4						c.(1699-1701)TTC>TTG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							42.0	44.0	43.0					5																	74892219		2194	4297	6491	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892219C>G	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1701C>G	5.37:g.74892219C>G	ENSP00000241436:p.Phe567Leu					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.F369L|POLK_uc003kec.2_Missense_Mutation_p.F477L|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.F477L	p.F567L	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1797	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	567					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1701C>G	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878343	0.51801	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.80653	1.12;-1.4;-1.4;1.1	5.47	2.75	0.32379	.	0.103686	0.64402	D	0.000003	D	0.84492	0.5484	M	0.63843	1.955	0.41612	D	0.988915	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.969	T	0.80995	-0.1133	10	0.36615	T	0.2	-9.3703	5.8901	0.18909	0.0:0.5182:0.0:0.4818	.	369;567	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	L	567;369;369;477	ENSP00000241436:F567L;ENSP00000342256:F369L;ENSP00000426853:F369L;ENSP00000369848:F477L	ENSP00000241436:F567L	F	+	3	2	POLK	74927975	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.224000	0.42945	0.687000	0.31509	-0.136000	0.14681	TTC		0.373	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3		NM_016218		13	11	0	0	0	0.001855	0	13	11		
PAPD4	167153	broad.mit.edu	37	5	78915520	78915520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:78915520C>T	ENST00000296783.3	+	3	348	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	PAPD4_ENST00000453514.1_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000504233.1_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000428308.2_Nonsense_Mutation_p.Q17*|PAPD4_ENST00000423041.2_Nonsense_Mutation_p.Q17*			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	17					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TCCAAATCATCAACAACATAA	0.393																																						uc010jae.1		NaN																	0				ovary(1)	1						c.(49-51)CAA>TAA		PAP associated domain containing 4							118.0	114.0	116.0					5																	78915520		2203	4300	6503	SO:0001587	stop_gained	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78915520C>T	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.49C>T	5.37:g.78915520C>T	ENSP00000296783:p.Gln17*					PAPD4_uc003kgb.2_Nonsense_Mutation_p.Q17*|PAPD4_uc010jaf.1_Nonsense_Mutation_p.Q17*|PAPD4_uc003kga.2_Nonsense_Mutation_p.Q17*|PAPD4_uc003kfz.2_Nonsense_Mutation_p.Q17*	p.Q17*	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	3	467	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	17					Q86WZ2|Q8N927	Nonsense_Mutation	SNP	ENST00000296783.3	37	c.49C>T	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	C	38	6.751247	0.97813	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	.	.	.	5.44	5.44	0.79542	.	0.234441	0.38897	N	0.001538	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-10.0717	17.4303	0.87537	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000296783:Q17X	Q	+	1	0	PAPD4	78951276	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.914000	0.63348	2.551000	0.86045	0.591000	0.81541	CAA		0.393	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1		NM_173797		20	28	0	0	0	0.003954	0	20	28		
MTX3	345778	broad.mit.edu	37	5	79279583	79279583	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:79279583G>A	ENST00000512528.1	-	9	883	c.863C>T	c.(862-864)cCt>cTt	p.P288L	MTX3_ENST00000509852.1_3'UTR|MTX3_ENST00000512560.1_Missense_Mutation_p.P227L			Q5HYI7	MTX3_HUMAN	metaxin 3	288					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		TTTCCGAGGAGGAAGCTGAGG	0.468																																						uc010jag.2		NaN																	0					0						c.(862-864)CCT>CTT		metaxin 3							128.0	129.0	129.0					5																	79279583		2016	4181	6197	SO:0001583	missense	345778				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr5:79279583G>A	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.863C>T	5.37:g.79279583G>A	ENSP00000424798:p.Pro288Leu					MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Missense_Mutation_p.P227L	p.P288L	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	9	890	-		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	288					B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37	c.863C>T		.	.	.	.	.	.	.	.	.	.	G	13.44	2.238558	0.39598	.	.	ENSG00000177034	ENST00000512560;ENST00000512528	T;T	0.42900	0.96;0.97	6.06	5.18	0.71444	.	.	.	.	.	T	0.26011	0.0634	N	0.14661	0.345	0.43522	D	0.995792	B	0.02656	0.0	B	0.04013	0.001	T	0.05550	-1.0878	9	0.39692	T	0.17	.	10.0776	0.42370	0.0722:0.1375:0.7902:0.0	.	288	Q5HYI7	MTX3_HUMAN	L	227;288	ENSP00000423600:P227L;ENSP00000424798:P288L	ENSP00000424798:P288L	P	-	2	0	MTX3	79315339	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.315000	0.51951	1.545000	0.49373	0.650000	0.86243	CCT		0.468	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1		XM_293971		32	51	0	0	0	0.00874	0	32	51		
MTX3	345778	broad.mit.edu	37	5	79279590	79279590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:79279590G>A	ENST00000512528.1	-	9	876	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	MTX3_ENST00000509852.1_3'UTR|MTX3_ENST00000512560.1_Nonsense_Mutation_p.Q225*			Q5HYI7	MTX3_HUMAN	metaxin 3	286					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GGAGGAAGCTGAGGGCTTTGG	0.468																																						uc010jag.2		NaN																	0					0						c.(856-858)CAG>TAG		metaxin 3							124.0	125.0	125.0					5																	79279590		2023	4180	6203	SO:0001587	stop_gained	345778				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr5:79279590G>A	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.856C>T	5.37:g.79279590G>A	ENSP00000424798:p.Gln286*					MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Nonsense_Mutation_p.Q225*	p.Q286*	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	9	883	-		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	286					B4DL65|E9PB57|Q7Z380|Q8NB92	Nonsense_Mutation	SNP	ENST00000512528.1	37	c.856C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.257305	0.95368	.	.	ENSG00000177034	ENST00000512560;ENST00000512528	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	.	.	.	X	225;286	.	ENSP00000424798:Q286X	Q	-	1	0	MTX3	79315346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.556000	0.90697	2.879000	0.98667	0.650000	0.86243	CAG		0.468	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1		XM_293971		34	50	0	0	0	0.01441	0	34	50		
FAM81B	153643	broad.mit.edu	37	5	94772582	94772582	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:94772582C>T	ENST00000283357.5	+	7	911	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	289						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GGGGGATTATCGCCACGAAAT	0.398																																						uc003kla.1		NaN																	0				ovary(1)|skin(1)	2						c.(865-867)CGC>TGC		hypothetical protein LOC153643							78.0	73.0	74.0					5																	94772582		1867	4113	5980	SO:0001583	missense	153643							g.chr5:94772582C>T		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.865C>T	5.37:g.94772582C>T	ENSP00000283357:p.Arg289Cys					FAM81B_uc010jbe.1_Missense_Mutation_p.R85C	p.R289C	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	7	911	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	289						Missense_Mutation	SNP	ENST00000283357.5	37	c.865C>T	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030604	0.54790	.	.	ENSG00000153347	ENST00000283357	T	0.18810	2.19	5.47	3.47	0.39725	.	0.462633	0.21494	N	0.073627	T	0.24509	0.0594	L	0.51422	1.61	0.28639	N	0.907265	D	0.60160	0.987	P	0.46049	0.502	T	0.10291	-1.0636	10	0.72032	D	0.01	0.6284	12.7459	0.57281	0.1357:0.7464:0.1179:0.0	.	289	Q96LP2	FA81B_HUMAN	C	289	ENSP00000283357:R289C	ENSP00000283357:R289C	R	+	1	0	FAM81B	94798338	0.996000	0.38824	0.715000	0.30552	0.898000	0.52572	2.444000	0.44890	1.287000	0.44583	0.650000	0.86243	CGC		0.398	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1		NM_152548		13	39	0	0	0	0.004007	0	13	39		
FBN2	2201	broad.mit.edu	37	5	127622542	127622542	+	Splice_Site	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:127622542C>G	ENST00000508053.1	-	61	7855		c.e61-1		FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATCCAGATCTAGAACaaaa	0.378																																						uc003kuu.2		NaN																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.e55-1		fibrillin 2 precursor							65.0	62.0	63.0					5																	127622542		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127622542C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6881-1G>C	5.37:g.127622542C>G							p.D2294_splice	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	55	7320	-		all_cancers(142;0.0216)|Prostate(80;0.0551)						B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	c.6881_splice	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405794	0.62288	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3361	0.94319	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127650441	1.000000	0.71417	0.998000	0.56505	0.467000	0.32768	7.600000	0.82769	2.878000	0.98634	0.650000	0.86243	.		0.378	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999	Intron	12	23	0	0	0	0.001855	0	12	23		
RAPGEF6	51735	broad.mit.edu	37	5	130840372	130840372	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:130840372C>T	ENST00000509018.1	-	11	1406	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E401K|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E451K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E401K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E401K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E401K|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E116K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E401K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	401					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCCCGATGCTCATGTACCATA	0.383																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1201-1203)GAG>AAG		PDZ domain-containing guanine nucleotide							201.0	186.0	191.0					5																	130840372		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130840372C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1201G>A	5.37:g.130840372C>T	ENSP00000421684:p.Glu401Lys					RAPGEF6_uc003kvp.1_Missense_Mutation_p.E451K|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E401K|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E401K|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E401K|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E118K|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E401K|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E401K	p.E401K	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	11	1407	-			401					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1201G>A	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998129	0.93227	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.43	4.43	0.53597	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.62048	0.2396	M	0.86502	2.82	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999;0.999;0.999	T	0.71676	-0.4521	10	0.87932	D	0	.	17.4081	0.87479	0.0:1.0:0.0:0.0	.	401;401;401;116;451;401;401	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	K	401;401;401;401;401;116;401;401;451	ENSP00000421684:E401K;ENSP00000309298:E401K;ENSP00000426081:E401K;ENSP00000296859:E401K;ENSP00000426910:E116K;ENSP00000311419:E401K;ENSP00000425389:E401K;ENSP00000426948:E451K	ENSP00000426948:E451K	E	-	1	0	RAPGEF6;FNIP1	130868271	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.776000	0.85560	2.173000	0.68751	0.313000	0.20887	GAG		0.383	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1		NM_016340		41	45	0	0	0	0.01441	0	41	45		
SLC4A9	83697	broad.mit.edu	37	5	139741424	139741424	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:139741424T>A	ENST00000230993.6	+	4	644	c.609T>A	c.(607-609)aaT>aaA	p.N203K	SLC4A9_ENST00000506757.2_Missense_Mutation_p.N179K|SLC4A9_ENST00000506545.1_Missense_Mutation_p.N179K|SLC4A9_ENST00000432095.2_Missense_Mutation_p.N179K|SLC4A9_ENST00000507527.1_Missense_Mutation_p.N203K	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	203					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGACAATGAGGAAGCCC	0.502																																						uc003lfm.2		NaN																	0				large_intestine(1)	1						c.(607-609)AAT>AAA		solute carrier family 4, sodium bicarbonate							133.0	130.0	131.0					5																	139741424		1849	4088	5937	SO:0001583	missense	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139741424T>A	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.609T>A	5.37:g.139741424T>A	ENSP00000230993:p.Asn203Lys					SLC4A9_uc003lfj.2_Missense_Mutation_p.N179K|SLC4A9_uc011czg.1_Missense_Mutation_p.N179K|SLC4A9_uc003lfl.2_Missense_Mutation_p.N179K|SLC4A9_uc003lfk.2_Missense_Mutation_p.N179K	p.N203K	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	644	+			203			Cytoplasmic (Potential).		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	c.609T>A	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	T	4.594	0.110350	0.08780	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	4.95	-6.87	0.01671	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	1.517050	0.03817	N	0.266783	T	0.47967	0.1474	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25007	0.116;0.009;0.02;0.02	B;B;B;B	0.22152	0.038;0.032;0.023;0.023	T	0.50516	-0.8819	10	0.06099	T	0.92	.	3.8169	0.08819	0.1131:0.1575:0.4899:0.2395	.	179;203;179;179	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	K	203;179;179;179;203	ENSP00000230993:N203K;ENSP00000424424:N179K;ENSP00000410056:N179K;ENSP00000422855:N179K;ENSP00000427661:N203K	ENSP00000230993:N203K	N	+	3	2	SLC4A9	139721608	0.087000	0.21565	0.005000	0.12908	0.248000	0.25809	-0.075000	0.11431	-0.920000	0.03799	-0.291000	0.09656	AAT		0.502	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1		NM_031467		61	49	0	0	0	0.01441	0	61	49		
PCDHGA4	56111	broad.mit.edu	37	5	140734781	140734781	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:140734781C>G	ENST00000571252.1	+	1	14	c.14C>G	c.(13-15)cCt>cGt	p.P5R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	5					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCGCCTCCTGCTCGCCCA	0.602																																						uc003ljq.1		NaN																	0					0						c.(13-15)CCT>CGT		protocadherin gamma subfamily A, 4 isoform 1							22.0	28.0	26.0					5																	140734781		1909	4133	6042	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140734781C>G	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.14C>G	5.37:g.140734781C>G	ENSP00000458570:p.Pro5Arg					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.P5R	p.P5R	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	14	+			5					Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.14C>G	CCDS58979.1																																																																																				0.602	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1		NM_018917		22	28	0	0	0	0.00278	0	22	28		
ARAP3	64411	broad.mit.edu	37	5	141033813	141033813	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr5:141033813G>A	ENST00000239440.4	-	33	4404	c.4339C>T	c.(4339-4341)Caa>Taa	p.Q1447*	ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q1278*|ARAP3_ENST00000512390.1_5'UTR|FCHSD1_ENST00000519800.1_5'Flank|ARAP3_ENST00000513878.1_Nonsense_Mutation_p.Q1096*|FCHSD1_ENST00000435817.2_5'Flank|FCHSD1_ENST00000522783.1_5'Flank	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1447					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGAAAGGGTTGATCCAATGAC	0.602																																						uc003llm.2		NaN																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(4339-4341)CAA>TAA		ArfGAP with RhoGAP domain, ankyrin repeat and PH							109.0	110.0	110.0					5																	141033813		2203	4300	6503	SO:0001587	stop_gained	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141033813G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4339C>T	5.37:g.141033813G>A	ENSP00000239440:p.Gln1447*					ARAP3_uc003lll.2_Nonsense_Mutation_p.Q398*|ARAP3_uc011dbe.1_Nonsense_Mutation_p.Q1096*|ARAP3_uc003lln.2_Nonsense_Mutation_p.Q1278*	p.Q1447*	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			33	4417	-			1447					B4DIT1|D3DQE3	Nonsense_Mutation	SNP	ENST00000239440.4	37	c.4339C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	40	8.174758	0.98691	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	.	.	.	5.05	2.06	0.26882	.	0.629741	0.14349	N	0.325191	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	11.2182	0.48838	0.0:0.2578:0.6085:0.1336	.	.	.	.	X	1278;1447;1096	.	ENSP00000239440:Q1447X	Q	-	1	0	ARAP3	141013997	0.292000	0.24362	0.941000	0.38009	0.658000	0.38924	1.083000	0.30815	0.661000	0.30985	0.655000	0.94253	CAA		0.602	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1		NM_022481		36	44	0	0	0	0.005524	0	36	44		
FOXC1	2296	broad.mit.edu	37	6	1612341	1612341	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:1612341G>A	ENST00000380874.2	+	1	1661	c.1661G>A	c.(1660-1662)tGa>tAa	p.*554*		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	0					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		AGCAAGTTTTGACACACCCTC	0.448																																					Pancreas(133;719 1821 3197 26645 35015)	uc003mtp.2		NaN																	0				ovary(1)	1						c.(1660-1662)TGA>TAA		forkhead box C1							70.0	68.0	68.0					6																	1612341		2203	4300	6503	SO:0001819	synonymous_variant	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1612341G>A	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1661G>A	6.37:g.1612341G>A							p.*554*	NM_001453	NP_001444	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	1661	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	554					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	ENST00000380874.2	37	c.1661G>A	CCDS4473.1																																																																																				0.448	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1				18	86	0	0	0	0.012319	0	18	86		
SERPINB9	5272	broad.mit.edu	37	6	2900817	2900817	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:2900817G>T	ENST00000380698.4	-	2	118	c.29C>A	c.(28-30)aCt>aAt	p.T10N		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	10					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TATGGCAAAAGTACCACTTGC	0.458																																						uc003mug.2		NaN																	0					0						c.(28-30)ACT>AAT		serpin peptidase inhibitor, clade B, member 9							212.0	203.0	206.0					6																	2900817		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2900817G>T	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.29C>A	6.37:g.2900817G>T	ENSP00000370074:p.Thr10Asn					uc003mue.2_RNA|SERPINB9_uc003muh.2_Missense_Mutation_p.T10N	p.T10N	NM_004155	NP_004146	P50453	SPB9_HUMAN			2	150	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	10					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.29C>A	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	G	6.636	0.485735	0.12641	.	.	ENSG00000170542	ENST00000380698	D	0.81499	-1.5	5.37	-0.0489	0.13837	Serpin domain (2);	0.785665	0.12337	N	0.477838	T	0.53286	0.1787	L	0.35593	1.075	0.09310	N	1	B	0.32653	0.379	B	0.38683	0.279	T	0.50320	-0.8842	10	0.17832	T	0.49	.	10.4696	0.44629	0.0:0.3192:0.3533:0.3274	.	10	P50453	SPB9_HUMAN	N	10	ENSP00000370074:T10N	ENSP00000370074:T10N	T	-	2	0	SERPINB9	2845816	.	.	0.967000	0.41034	0.023000	0.10783	.	.	0.038000	0.15604	-0.127000	0.14921	ACT		0.458	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1				128	234	1	0	8.06247e-56	0.01441	8.83032e-56	128	234		
RREB1	6239	broad.mit.edu	37	6	7247274	7247274	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:7247274G>A	ENST00000349384.6	+	11	4740	c.4426G>A	c.(4426-4428)Gac>Aac	p.D1476N	RREB1_ENST00000379933.3_Missense_Mutation_p.D1476N|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379938.2_Missense_Mutation_p.D1531N	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1476					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGGCCCCTCCGACGGGGAGAG	0.672																																						uc003mxc.2		NaN																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(4426-4428)GAC>AAC		ras responsive element binding protein 1 isoform							37.0	40.0	39.0					6																	7247274		2195	4291	6486	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7247274G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4426G>A	6.37:g.7247274G>A	ENSP00000305560:p.Asp1476Asn					RREB1_uc003mxb.2_Missense_Mutation_p.D1531N|RREB1_uc010jnx.2_Intron	p.D1476N	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			11	4816	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1476					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.4426G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895912	0.52121	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384	T;T;T	0.11169	2.82;2.8;2.82	5.24	5.24	0.73138	.	0.550760	0.16302	N	0.220416	T	0.06416	0.0165	M	0.64997	1.995	0.80722	D	1	P;P	0.47106	0.824;0.89	B;B	0.34138	0.085;0.176	T	0.42344	-0.9457	10	0.22109	T	0.4	-19.6135	18.8352	0.92159	0.0:0.0:1.0:0.0	.	1476;1531	Q92766;Q92766-2	RREB1_HUMAN;.	N	1476;1531;1476	ENSP00000369265:D1476N;ENSP00000369270:D1531N;ENSP00000305560:D1476N	ENSP00000305560:D1476N	D	+	1	0	RREB1	7192273	1.000000	0.71417	0.018000	0.16275	0.042000	0.13812	8.787000	0.91830	2.449000	0.82847	0.561000	0.74099	GAC		0.672	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1				3	25	0	0	0	0.004672	0	3	25		
PAK1IP1	55003	broad.mit.edu	37	6	10697685	10697685	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:10697685G>A	ENST00000379568.3	+	2	504	c.213G>A	c.(211-213)aaG>aaA	p.K71K	C6orf52_ENST00000379586.1_5'Flank|C6orf52_ENST00000503680.1_5'Flank|C6orf52_ENST00000259983.3_5'Flank|C6orf52_ENST00000467832.2_5'Flank|C6orf52_ENST00000460742.2_5'Flank	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	71					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ACATGAAAAAGAAGATTGAGC	0.393																																						uc003mzg.2		NaN																	0					0						c.(211-213)AAG>AAA		PAK1 interacting protein 1							132.0	135.0	134.0					6																	10697685		2203	4300	6503	SO:0001819	synonymous_variant	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10697685G>A	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.213G>A	6.37:g.10697685G>A						C6orf52_uc011dij.1_5'Flank|C6orf52_uc011dik.1_5'Flank|C6orf52_uc003mzf.3_5'Flank|C6orf52_uc011dil.1_5'Flank	p.K71K	NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN			2	244	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)	71			WD 1.		Q5T4J2|Q96QJ8|Q96T87	Silent	SNP	ENST00000379568.3	37	c.213G>A	CCDS34339.1																																																																																				0.393	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1		NM_017906		7	106	0	0	0	0.004482	0	7	106		
KIF13A	63971	broad.mit.edu	37	6	17809073	17809073	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:17809073C>T	ENST00000259711.6	-	18	2194	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	KIF13A_ENST00000378814.5_Missense_Mutation_p.E697K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E697K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E697K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E697K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	697					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTCATTTCCTCAGCCAGGAAG	0.488																																						uc003ncg.3		NaN																	0				large_intestine(2)|ovary(2)	4						c.(2089-2091)GAG>AAG		kinesin family member 13A isoform a							103.0	97.0	99.0					6																	17809073		1928	4140	6068	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17809073C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2089G>A	6.37:g.17809073C>T	ENSP00000259711:p.Glu697Lys					KIF13A_uc003ncf.2_Missense_Mutation_p.E697K|KIF13A_uc003nch.3_Missense_Mutation_p.E697K|KIF13A_uc003nci.3_Missense_Mutation_p.E697K	p.E697K	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		18	2194	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	697			Potential.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.2089G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498474	0.96355	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.69823	2.125	0.80722	D	1	P;P;P;P	0.50528	0.746;0.913;0.884;0.936	B;P;P;P	0.50405	0.43;0.568;0.465;0.64	T	0.74578	-0.3619	10	0.46703	T	0.11	.	19.127	0.93390	0.0:1.0:0.0:0.0	.	697;697;697;697	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	K	697	ENSP00000368091:E697K;ENSP00000259711:E697K;ENSP00000368103:E697K;ENSP00000368120:E697K;ENSP00000368093:E697K	ENSP00000259711:E697K	E	-	1	0	KIF13A	17917052	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.776000	0.85560	2.503000	0.84419	0.563000	0.77884	GAG		0.488	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4				23	35	0	0	0	0.004656	0	23	35		
PRSS16	10279	broad.mit.edu	37	6	27222869	27222869	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:27222869G>A	ENST00000230582.3	+	11	1450	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	PRSS16_ENST00000421826.2_Missense_Mutation_p.E222K|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	479					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CATGGCACCTGAGAGGCCCTC	0.507																																					NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.2		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1435-1437)GAG>AAG		protease, serine, 16 precursor							90.0	101.0	97.0					6																	27222869		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222869G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1435G>A	6.37:g.27222869G>A	ENSP00000230582:p.Glu479Lys					PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.E222K|PRSS16_uc003njd.2_RNA	p.E479K	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			11	1447	+			479					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1435G>A	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996079	0.35226	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.13778	2.56;2.56	4.55	2.7	0.31948	.	1.526070	0.03481	N	0.215040	T	0.04724	0.0128	L	0.61218	1.895	0.20196	N	0.999923	P;B	0.40794	0.729;0.32	B;B	0.38264	0.269;0.193	T	0.37150	-0.9718	10	0.09338	T	0.73	-7.4073	5.7258	0.18013	0.1102:0.1997:0.6901:0.0	.	222;479	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	K	222;479	ENSP00000404349:E222K;ENSP00000230582:E479K	ENSP00000230582:E479K	E	+	1	0	PRSS16	27330848	0.014000	0.17966	0.983000	0.44433	0.992000	0.81027	0.155000	0.16362	0.629000	0.30376	-0.321000	0.08615	GAG		0.507	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2				126	145	0	0	0	0.01441	0	126	145		
VWA7	80737	broad.mit.edu	37	6	31737803	31737803	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:31737803G>A	ENST00000375688.4	-	8	1375	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Missense_Mutation_p.P392L|VWA7_ENST00000447450.1_Missense_Mutation_p.P392L			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	392	VWFA.					extracellular region (GO:0005576)											GCACATCTCAGGCTCGTCTCC	0.622																																						uc011dog.1		NaN																	0				ovary(3)	3						c.(1174-1176)CCT>CTT		G7c protein precursor							109.0	76.0	88.0					6																	31737803		1511	2709	4220	SO:0001583	missense	80737					extracellular region		g.chr6:31737803G>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1175C>T	6.37:g.31737803G>A	ENSP00000364840:p.Pro392Leu					C6orf27_uc003nxd.2_Missense_Mutation_p.P67L|C6orf27_uc011doh.1_RNA	p.P392L	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			8	1413	-			392					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1175C>T	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	32	5.190778	0.94923	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	D;D;D	0.98044	-4.68;-4.68;-4.68	5.77	5.77	0.91146	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99774	1.1025	10	0.87932	D	0	-20.666	17.4758	0.87658	0.0:0.0:1.0:0.0	.	392	Q9Y334	G7C_HUMAN	L	392	ENSP00000364840:P392L;ENSP00000364838:P392L;ENSP00000390554:P392L	ENSP00000364838:P392L	P	-	2	0	C6orf27	31845782	1.000000	0.71417	0.985000	0.45067	0.936000	0.57629	7.963000	0.87922	2.737000	0.93849	0.561000	0.74099	CCT		0.622	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2		NM_025258		32	80	0	0	0	0.004289	0	32	80		
ATF6B	1388	broad.mit.edu	37	6	32086844	32086844	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:32086844T>G	ENST00000375203.3	-	10	1073	c.1041A>C	c.(1039-1041)aaA>aaC	p.K347N	ATF6B_ENST00000375201.4_Missense_Mutation_p.K344N	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	347	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GCAGATACTCTTTCTTCTTTC	0.607																																						uc003nzn.2		NaN																	0					0						c.(1039-1041)AAA>AAC		activating transcription factor 6 beta isoform							21.0	22.0	22.0					6																	32086844		2203	4299	6502	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32086844T>G		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1041A>C	6.37:g.32086844T>G	ENSP00000364349:p.Lys347Asn					TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.K344N|ATF6B_uc003nzp.1_Missense_Mutation_p.K36N	p.K347N	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			10	1074	-			347			Cytoplasmic (Potential).|Basic motif.		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.1041A>C	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314441	0.81358	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.59083	0.29;0.29	5.28	-9.04	0.00734	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.141869	0.44688	U	0.000429	T	0.70527	0.3234	M	0.90650	3.135	0.40637	D	0.98191	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.85285	0.1064	10	0.87932	D	0	-11.2012	20.6917	0.99705	0.0:0.7356:0.0:0.2644	.	344;347	Q99941-2;Q99941	.;ATF6B_HUMAN	N	347;344	ENSP00000364349:K347N;ENSP00000364347:K344N	ENSP00000364347:K344N	K	-	3	2	ATF6B	32194822	0.001000	0.12720	0.494000	0.27515	0.994000	0.84299	-1.602000	0.02079	-1.971000	0.01002	0.533000	0.62120	AAA		0.607	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2				24	34	0	0	0	0.010818	0	24	34		
NOTCH4	4855	broad.mit.edu	37	6	32166323	32166323	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:32166323C>T	ENST00000375023.3	-	26	4769	c.4631G>A	c.(4630-4632)gGc>gAc	p.G1544D	NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1544					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAGGGTGGGCCTGTTTCTTC	0.572																																						uc003obb.2		NaN																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(4630-4632)GGC>GAC		notch4 preproprotein							96.0	69.0	78.0					6																	32166323		1510	2709	4219	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32166323C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4631G>A	6.37:g.32166323C>T	ENSP00000364163:p.Gly1544Asp					NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Missense_Mutation_p.G204D|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	p.G1544D	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			26	4770	-			1544			Cytoplasmic (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.4631G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	1.173	-0.640303	0.03557	.	.	ENSG00000204301	ENST00000375023	T	0.80214	-1.35	5.16	1.31	0.21738	.	0.327870	0.22015	N	0.065818	T	0.25717	0.0626	N	0.02315	-0.6	0.09310	N	0.999994	B;B	0.23650	0.001;0.089	B;B	0.20955	0.003;0.032	T	0.40251	-0.9573	10	0.10902	T	0.67	.	4.7661	0.13132	0.2769:0.1681:0.555:0.0	.	1544;1543	Q99466;B0S882	NOTC4_HUMAN;.	D	1544	ENSP00000364163:G1544D	ENSP00000364163:G1544D	G	-	2	0	NOTCH4	32274301	0.984000	0.35163	0.179000	0.23059	0.572000	0.35998	1.152000	0.31663	0.343000	0.23821	-0.311000	0.09066	GGC		0.572	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2				15	43	0	0	0	0.007413	0	15	43		
SYNGAP1	8831	broad.mit.edu	37	6	33400506	33400506	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:33400506G>A	ENST00000418600.2	+	5	533	c.432G>A	c.(430-432)acG>acA	p.T144T	SYNGAP1_ENST00000293748.5_Silent_p.T144T|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.T85T	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	144					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TCAAACGAACGAAGTCACAAC	0.582																																						uc011dri.1		NaN																	0				ovary(4)	4						c.(430-432)ACG>ACA		synaptic Ras GTPase activating protein 1							77.0	66.0	70.0					6																	33400506		2203	4300	6503	SO:0001819	synonymous_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33400506G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.432G>A	6.37:g.33400506G>A						SYNGAP1_uc003oeo.1_Silent_p.T129T|SYNGAP1_uc010juy.2_Silent_p.T129T	p.T144T	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			5	627	+			144					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	c.432G>A	CCDS34434.2																																																																																				0.582	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4		XM_166407		24	61	0	0	0	0.004656	0	24	61		
DEF6	50619	broad.mit.edu	37	6	35288972	35288972	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:35288972C>T	ENST00000316637.5	+	11	1686	c.1681C>T	c.(1681-1683)Ccg>Tcg	p.P561S	DEF6_ENST00000542066.1_Missense_Mutation_p.P306S	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	561						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGATAAGCGTCCGGTCACCAG	0.627																																						uc003okk.2		NaN																	0					0						c.(1681-1683)CCG>TCG		differentially expressed in FDCP 6 homolog							170.0	174.0	172.0					6																	35288972		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35288972C>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1681C>T	6.37:g.35288972C>T	ENSP00000319831:p.Pro561Ser					DEF6_uc010jvs.2_Missense_Mutation_p.P536S|DEF6_uc010jvt.2_Missense_Mutation_p.P306S	p.P561S	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			11	1720	+			561					Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.1681C>T	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492353	0.64074	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.23754	1.89;3.48	5.42	5.42	0.78866	.	0.306607	0.36167	N	0.002760	T	0.10723	0.0262	L	0.35723	1.085	0.31491	N	0.665923	P;B;B	0.36909	0.573;0.295;0.437	B;B;B	0.36666	0.23;0.055;0.08	T	0.09100	-1.0690	10	0.39692	T	0.17	-18.7516	11.8172	0.52218	0.1749:0.8251:0.0:0.0	.	306;561;561	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	S	306;561	ENSP00000442166:P306S;ENSP00000319831:P561S	ENSP00000319831:P561S	P	+	1	0	DEF6	35396950	0.492000	0.26027	0.413000	0.26509	0.902000	0.53008	2.267000	0.43329	2.539000	0.85634	0.561000	0.74099	CCG		0.627	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1		NM_022047		189	298	0	0	0	0.01441	0	189	298		
TULP1	7287	broad.mit.edu	37	6	35478696	35478696	+	Silent	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:35478696C>G	ENST00000229771.6	-	5	520	c.441G>C	c.(439-441)ctG>ctC	p.L147L	TULP1_ENST00000322263.4_Silent_p.L94L	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	147					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCTTCTCTCTCAGGGGCTTCT	0.592																																					GBM(55;1027 1091 11115 23439)	uc003okv.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(439-441)CTG>CTC		tubby like protein 1							87.0	85.0	86.0					6																	35478696		2203	4300	6503	SO:0001819	synonymous_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35478696C>G	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.441G>C	6.37:g.35478696C>G						TULP1_uc003okw.3_Silent_p.L94L	p.L147L	NM_003322	NP_003313	O00294	TULP1_HUMAN			5	453	-			147					O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	c.441G>C	CCDS4807.1																																																																																				0.592	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2				41	104	0	0	0	0.013114	0	41	104		
STK38	11329	broad.mit.edu	37	6	36489566	36489566	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:36489566C>G	ENST00000229812.7	-	5	620	c.335G>C	c.(334-336)gGa>gCa	p.G112A	RN7SL748P_ENST00000483066.2_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATACACATGTCCCGTATCTTT	0.358																																					Colon(180;997 3561 16158)	uc003omg.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(334-336)GGA>GCA		serine/threonine kinase 38							114.0	119.0	117.0					6																	36489566		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36489566C>G		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.335G>C	6.37:g.36489566C>G	ENSP00000229812:p.Gly112Ala					STK38_uc003omh.2_Missense_Mutation_p.G112A|STK38_uc003omi.2_Missense_Mutation_p.G112A	p.G112A	NM_007271	NP_009202	Q15208	STK38_HUMAN			4	923	-			112			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.335G>C	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238791	0.95240	.	.	ENSG00000112079	ENST00000229812	T	0.53423	0.62	5.49	5.49	0.81192	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	0.65344	0.2682	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66232	-0.5975	10	0.72032	D	0.01	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	112	Q15208	STK38_HUMAN	A	112	ENSP00000229812:G112A	ENSP00000229812:G112A	G	-	2	0	STK38	36597544	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.609000	0.82925	2.865000	0.98341	0.655000	0.94253	GGA		0.358	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1		NM_007271		31	102	0	0	0	0.010818	0	31	102		
C6orf89	221477	broad.mit.edu	37	6	36887410	36887410	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:36887410C>T	ENST00000480824.2	+	8	1176	c.882C>T	c.(880-882)ctC>ctT	p.L294L	C6orf89_ENST00000373685.1_Silent_p.L294L|C6orf89_ENST00000359359.2_Silent_p.L188L|C6orf89_ENST00000510325.2_Silent_p.L188L|C6orf89_ENST00000355190.3_Silent_p.L301L			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	294					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TGTTGCAGCTCATCCCTCCCT	0.532																																						uc003omx.2		NaN																	0				ovary(1)	1						c.(880-882)CTC>CTT		hypothetical protein LOC221477							120.0	104.0	110.0					6																	36887410		2203	4300	6503	SO:0001819	synonymous_variant	221477					integral to membrane		g.chr6:36887410C>T	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.882C>T	6.37:g.36887410C>T						C6orf89_uc003omv.2_Silent_p.L188L|C6orf89_uc003omw.2_Silent_p.L301L|C6orf89_uc011dtr.1_Silent_p.L188L|C6orf89_uc003omy.2_Silent_p.L128L	p.L294L	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN			8	1166	+			294					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	ENST00000480824.2	37	c.882C>T																																																																																					0.532	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2		NM_152734		72	79	0	0	0	0.01441	0	72	79		
KIF6	221458	broad.mit.edu	37	6	39313505	39313505	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:39313505C>G	ENST00000287152.7	-	21	2386	c.2292G>C	c.(2290-2292)caG>caC	p.Q764H	KIF6_ENST00000373216.3_Missense_Mutation_p.Q747H|KIF6_ENST00000373213.4_Missense_Mutation_p.Q603H|KIF6_ENST00000538893.1_Missense_Mutation_p.Q708H|KIF6_ENST00000373215.3_Missense_Mutation_p.Q747H|KIF6_ENST00000394362.1_Missense_Mutation_p.Q198H|KIF6_ENST00000541946.1_Missense_Mutation_p.Q215H|KIF6_ENST00000229913.5_Missense_Mutation_p.Q215H	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	764					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGTGCTGCTCTGTTTCTGGC	0.557																																						uc003oot.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(2290-2292)CAG>CAC		kinesin family member 6							127.0	111.0	116.0					6																	39313505		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39313505C>G	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.2292G>C	6.37:g.39313505C>G	ENSP00000287152:p.Gln764His					KIF6_uc003oos.2_Missense_Mutation_p.Q215H|KIF6_uc010jwz.1_Missense_Mutation_p.Q139H|KIF6_uc010jxa.1_Missense_Mutation_p.Q538H|KIF6_uc011dua.1_Missense_Mutation_p.Q747H|KIF6_uc010jxb.1_Missense_Mutation_p.Q708H	p.Q764H	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			21	2387	-			764					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.2292G>C	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.115|7.115	0.576893|0.576893	0.13686|0.13686	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946|ENST00000458470	T;T;T;T;T;T;T;T|.	0.72394|.	-0.58;1.45;-0.6;-0.4;1.49;-0.58;-0.65;1.43|.	4.03|4.03	-2.07|-2.07	0.07276|0.07276	.|.	.|.	.|.	.|.	.|.	T|T	0.05364|0.05364	0.0142|0.0142	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.33448|.	0.412;0.412;0.412;0.289|.	B;B;B;B|.	0.31946|.	0.138;0.138;0.138;0.066|.	T|T	0.36648|0.36648	-0.9739|-0.9739	9|5	0.13853|.	T|.	0.58|.	.|.	2.0345|2.0345	0.03537|0.03537	0.3175:0.267:0.3126:0.1029|0.3175:0.267:0.3126:0.1029	.|.	747;708;747;764|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	H|T	764;198;747;603;215;747;708;215|639	ENSP00000287152:Q764H;ENSP00000377889:Q198H;ENSP00000362312:Q747H;ENSP00000362309:Q603H;ENSP00000229913:Q215H;ENSP00000362311:Q747H;ENSP00000441435:Q708H;ENSP00000439064:Q215H|.	ENSP00000229913:Q215H|.	Q|R	-|-	3|2	2|0	KIF6|KIF6	39421483|39421483	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.040000|0.040000	0.13550|0.13550	-1.017000|-1.017000	0.03630|0.03630	-0.182000|-0.182000	0.10602|0.10602	0.563000|0.563000	0.77884|0.77884	CAG|AGA		0.557	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2		NM_145027		27	37	0	0	0	0.012213	0	27	37		
DAAM2	23500	broad.mit.edu	37	6	39846247	39846247	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:39846247G>A	ENST00000398904.2	+	13	1610	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	DAAM2_ENST00000274867.4_Silent_p.K476K|DAAM2_ENST00000538976.1_Silent_p.K476K			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	476					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CATTGGAGAAGGAAGAGATGA	0.587																																						uc003oow.2		NaN																	0				ovary(2)|skin(1)	3						c.(1426-1428)AAG>AAA		dishevelled associated activator of							46.0	52.0	50.0					6																	39846247		2042	4192	6234	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39846247G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1428G>A	6.37:g.39846247G>A						DAAM2_uc010jxc.2_Silent_p.K476K|DAAM2_uc003oox.2_Silent_p.K476K	p.K476K	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			13	1584	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		476			Potential.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.1428G>A	CCDS56426.1																																																																																				0.587	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1				10	13	0	0	0	0.010729	0	10	13		
NFYA	4800	broad.mit.edu	37	6	41057404	41057404	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:41057404C>T	ENST00000341376.6	+	5	597	c.396C>T	c.(394-396)atC>atT	p.I132I	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Silent_p.I103I	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	132	Gln-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCAGCAGATCATCATCCAGC	0.552																																						uc003opo.2		NaN																	0					0						c.(394-396)ATC>ATT		nuclear transcription factor Y, alpha isoform 1							63.0	62.0	63.0					6																	41057404		2203	4300	6503	SO:0001819	synonymous_variant	4800				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:41057404C>T		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.396C>T	6.37:g.41057404C>T						NFYA_uc003opp.2_Silent_p.I103I|NFYA_uc003opq.2_Silent_p.I103I	p.I132I	NM_002505	NP_002496	P23511	NFYA_HUMAN			5	574	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		132			Gln-rich.		Q8IXU0	Silent	SNP	ENST00000341376.6	37	c.396C>T	CCDS4849.1																																																																																				0.552	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1				54	75	0	0	0	0.01441	0	54	75		
TMEM63B	55362	broad.mit.edu	37	6	44119725	44119725	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:44119725G>A	ENST00000259746.9	+	19	1999	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	TMEM63B_ENST00000323267.6_Missense_Mutation_p.E606K			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	606					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTCGGCCGCCGAGAGGCGCAA	0.677											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003owr.2		NaN																	0				pancreas(2)|central_nervous_system(1)	3						c.(1816-1818)GAG>AAG		transmembrane protein 63B							21.0	17.0	18.0					6																	44119725		2200	4293	6493	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44119725G>A	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1816G>A	6.37:g.44119725G>A	ENSP00000259746:p.Glu606Lys		OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	TMEM63B_uc003ows.2_Missense_Mutation_p.E509K|TMEM63B_uc010jyz.2_RNA	p.E606K	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		19	1880	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		606					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.1816G>A	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032044	0.93575	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.29655	1.56;1.56	5.03	5.03	0.67393	Domain of unknown function DUF221 (1);	0.102768	0.64402	D	0.000004	T	0.47948	0.1473	M	0.86864	2.845	0.80722	D	1	D	0.56521	0.976	P	0.54590	0.756	T	0.58618	-0.7605	10	0.87932	D	0	.	17.5172	0.87777	0.0:0.0:1.0:0.0	.	606	Q5T3F8	TM63B_HUMAN	K	606	ENSP00000259746:E606K;ENSP00000327154:E606K	ENSP00000259746:E606K	E	+	1	0	TMEM63B	44227703	1.000000	0.71417	0.990000	0.47175	0.966000	0.64601	9.573000	0.98181	2.611000	0.88343	0.557000	0.71058	GAG		0.677	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2		XM_166410		9	15	0	0	0	0.004482	0	9	15		
TDRD6	221400	broad.mit.edu	37	6	46660819	46660819	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:46660819G>C	ENST00000316081.6	+	1	4954	c.4954G>C	c.(4954-4956)Gac>Cac	p.D1652H	TDRD6_ENST00000544460.1_Missense_Mutation_p.D1652H	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1652					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGAGGGAAATGACTATTTCTA	0.378																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(4954-4956)GAC>CAC		tudor domain containing 6							67.0	70.0	69.0					6																	46660819		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660819G>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4954G>C	6.37:g.46660819G>C	ENSP00000346065:p.Asp1652His					TDRD6_uc010jze.2_Missense_Mutation_p.D1646H	p.D1652H	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4954	+			1652					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4954G>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392313	0.62066	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.18502	2.21;2.22	5.88	5.01	0.66863	.	0.148004	0.47093	D	0.000257	T	0.23572	0.0570	L	0.56769	1.78	0.38592	D	0.950451	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.971	T	0.00724	-1.1593	10	0.44086	T	0.13	-8.8545	8.3036	0.32029	0.2418:0.0:0.7582:0.0	.	1652;1652	F5H5M3;O60522	.;TDRD6_HUMAN	H	1652	ENSP00000443299:D1652H;ENSP00000346065:D1652H	ENSP00000346065:D1652H	D	+	1	0	TDRD6	46768778	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.433000	0.52834	2.782000	0.95742	0.655000	0.94253	GAC		0.378	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		17	69	0	0	0	0.006122	0	17	69		
PLA2G7	7941	broad.mit.edu	37	6	46678299	46678299	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:46678299C>T	ENST00000274793.7	-	8	956	c.760G>A	c.(760-762)Gat>Aat	p.D254N	PLA2G7_ENST00000537365.1_Missense_Mutation_p.D254N|PLA2G7_ENST00000541026.1_Missense_Mutation_p.D127N|PLA2G7_ENST00000538237.1_Missense_Mutation_p.D209N	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	254					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGTTCCATATCAAACTTTAAA	0.333																																						uc010jzf.2		NaN																	0					0						c.(760-762)GAT>AAT		phospholipase A2, group VII							97.0	97.0	97.0					6																	46678299		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678299C>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.760G>A	6.37:g.46678299C>T	ENSP00000274793:p.Asp254Asn					PLA2G7_uc010jzg.1_Missense_Mutation_p.D254N|PLA2G7_uc011dwd.1_Missense_Mutation_p.D209N|PLA2G7_uc011dwe.1_Missense_Mutation_p.D127N	p.D254N	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Lung(136;0.192)		8	1029	-			254					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.760G>A	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207369	0.58343	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.54675	0.98;0.98;0.56;0.56	5.87	5.0	0.66597	.	0.044753	0.85682	D	0.000000	T	0.31040	0.0784	M	0.63843	1.955	0.43179	D	0.99499	B;B;B;B	0.33612	0.06;0.419;0.077;0.077	B;B;B;B	0.27262	0.029;0.078;0.026;0.026	T	0.10941	-1.0608	10	0.23891	T	0.37	.	11.4571	0.50189	0.0:0.8629:0.0:0.1371	.	127;209;254;254	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	N	254;254;209;127	ENSP00000274793:D254N;ENSP00000445666:D254N;ENSP00000441416:D209N;ENSP00000444164:D127N	ENSP00000274793:D254N	D	-	1	0	PLA2G7	46786258	1.000000	0.71417	0.611000	0.29010	0.849000	0.48306	2.770000	0.47662	2.785000	0.95823	0.655000	0.94253	GAT		0.333	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1				43	37	0	0	0	0.01441	0	43	37		
MEP1A	4224	broad.mit.edu	37	6	46766860	46766860	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:46766860G>A	ENST00000230588.4	+	5	213	c.204G>A	c.(202-204)ctG>ctA	p.L68L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	68	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GAAATGGCCTGAGAGACCCAA	0.428																																						uc010jzh.1		NaN																	0				pancreas(2)|ovary(1)	3						c.(202-204)CTG>CTA		meprin A alpha precursor							153.0	144.0	147.0					6																	46766860		2203	4300	6503	SO:0001819	synonymous_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46766860G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.204G>A	6.37:g.46766860G>A						MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Silent_p.L96L|MEP1A_uc011dwi.1_5'UTR	p.L68L	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		5	246	+			68			Extracellular (Potential).|Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	c.204G>A	CCDS4918.1																																																																																				0.428	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1		NM_005588		37	112	0	0	0	0.01441	0	37	112		
CD2AP	23607	broad.mit.edu	37	6	47577018	47577018	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:47577018G>C	ENST00000359314.5	+	16	2248	c.1792G>C	c.(1792-1794)Gaa>Caa	p.E598Q	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	598					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTGCATTGTAGAAGCACTGAA	0.353																																						uc003oyw.2		NaN																	0				ovary(1)|skin(1)	2						c.(1792-1794)GAA>CAA		CD2-associated protein							93.0	91.0	92.0					6																	47577018		2203	4300	6503	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47577018G>C	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1792G>C	6.37:g.47577018G>C	ENSP00000352264:p.Glu598Gln						p.E598Q	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		16	2248	+			598			Potential.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.1792G>C	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569815	0.65765	.	.	ENSG00000198087	ENST00000359314	T	0.39787	1.06	5.65	5.65	0.86999	.	1.049450	0.07428	N	0.895130	T	0.47340	0.1440	L	0.60455	1.87	0.32150	N	0.584357	D	0.58620	0.983	P	0.52386	0.697	T	0.47381	-0.9122	10	0.72032	D	0.01	-13.067	18.2957	0.90145	0.0:0.0:1.0:0.0	.	598	Q9Y5K6	CD2AP_HUMAN	Q	598	ENSP00000352264:E598Q	ENSP00000352264:E598Q	E	+	1	0	CD2AP	47684977	1.000000	0.71417	0.988000	0.46212	0.871000	0.50021	6.166000	0.71896	2.668000	0.90789	0.655000	0.94253	GAA		0.353	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2				3	150	0	0	0	0.009096	0	3	150		
EFHC1	114327	broad.mit.edu	37	6	52344529	52344529	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:52344529C>T	ENST00000371068.5	+	9	1687	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L	EFHC1_ENST00000538167.1_Silent_p.L509L|EFHC1_ENST00000433625.2_Silent_p.L437L	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	528						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CAGAAGCACTCGCGTCAATTC	0.478																																						uc003pap.3		NaN																	0				ovary(2)|skin(1)	3						c.(1582-1584)CTC>CTT		EF-hand domain (C-terminal) containing 1							136.0	121.0	126.0					6																	52344529		2203	4300	6503	SO:0001819	synonymous_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52344529C>T	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1584C>T	6.37:g.52344529C>T						EFHC1_uc011dwv.1_Silent_p.L437L|EFHC1_uc011dww.1_Silent_p.L509L	p.L528L	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN			9	1799	+	Lung NSC(77;0.109)		528					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.1584C>T	CCDS4942.1																																																																																				0.478	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2		NM_018100		39	59	0	0	0	0.006999	0	39	59		
MLIP	90523	broad.mit.edu	37	6	53883760	53883760	+	5'UTR	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:53883760C>G	ENST00000274897.5	+	0	47				MLIP_ENST00000514921.1_5'UTR|MLIP_ENST00000370877.2_5'UTR|MLIP_ENST00000509997.1_5'Flank	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein							nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CACGTCGAATCATTTTCTAGA	0.398																																						uc003pcg.3		NaN																	0					0						c.(-68--64)ATCAT>ATGAT		hypothetical protein LOC90523							38.0	31.0	33.0					6																	53883760		692	1591	2283	SO:0001623	5_prime_UTR_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:53883760C>G	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.-67C>G	6.37:g.53883760C>G						C6orf142_uc003pcf.2_Translation_Start_Site		NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			1	47	+	Lung NSC(77;0.0317)							B7Z2N0|D6RE05|Q96H08|Q96NF7	Translation_Start_Site	SNP	ENST00000274897.5	37	c.-66C>G	CCDS4954.1																																																																																				0.398	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3		NM_138569		5	11	0	0	0	0.000602	0	5	11		
DST	667	broad.mit.edu	37	6	56497803	56497803	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:56497803T>A	ENST00000361203.3	-	24	3028	c.3021A>T	c.(3019-3021)caA>caT	p.Q1007H	DST_ENST00000518935.1_Missense_Mutation_p.Q681H|DST_ENST00000370754.5_Missense_Mutation_p.Q1185H|DST_ENST00000312431.6_Missense_Mutation_p.Q1007H|DST_ENST00000244364.6_Missense_Mutation_p.Q681H|DST_ENST00000421834.2_Missense_Mutation_p.Q1007H|DST_ENST00000370765.6_Missense_Mutation_p.Q681H|DST_ENST00000370769.4_Missense_Mutation_p.Q1007H|DST_ENST00000446842.2_Missense_Mutation_p.Q681H|DST_ENST00000370788.2_Missense_Mutation_p.Q1007H			Q03001	DYST_HUMAN	dystonin	1007					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACTTAGAACTTGCTGATGTT	0.373																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(3553-3555)CAA>CAT		dystonin isoform 2							103.0	101.0	101.0					6																	56497803		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56497803T>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3021A>T	6.37:g.56497803T>A	ENSP00000354508:p.Gln1007His					DST_uc003pcz.3_Missense_Mutation_p.Q1007H|DST_uc011dxj.1_Missense_Mutation_p.Q1036H|DST_uc011dxk.1_Missense_Mutation_p.Q1047H|DST_uc003pcy.3_Missense_Mutation_p.Q681H|DST_uc003pdb.2_Missense_Mutation_p.Q681H|DST_uc003pdc.3_Missense_Mutation_p.Q681H|DST_uc003pdd.3_Missense_Mutation_p.Q681H	p.Q1185H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		27	3583	-	Lung NSC(77;0.103)		1007					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.3555A>T		.	.	.	.	.	.	.	.	.	.	T	19.92	3.915626	0.73098	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.69	0.598	0.17512	.	0.000000	0.50627	D	0.000113	T	0.42017	0.1184	M	0.79805	2.47	0.32732	N	0.508842	D;D;D;P;P;P;D;D	0.89917	0.989;0.996;0.989;0.781;0.729;0.746;0.989;1.0	P;D;P;B;P;P;P;D	0.91635	0.781;0.986;0.781;0.168;0.779;0.743;0.781;0.999	T	0.37549	-0.9701	9	0.66056	D	0.02	.	5.9117	0.19031	0.1193:0.2722:0.0:0.6085	.	1007;1007;1185;681;681;681;1007;681	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	H	681;1185;1007;1007;681;1007;1007;1007;681;1047;681;681	ENSP00000244364:Q681H;ENSP00000359790:Q1185H;ENSP00000359805:Q1007H;ENSP00000400883:Q1007H;ENSP00000393645:Q681H;ENSP00000307959:Q1007H;ENSP00000359824:Q1007H;ENSP00000354508:Q1007H;ENSP00000404924:Q681H;ENSP00000431030:Q1047H;ENSP00000359801:Q681H;ENSP00000431003:Q681H	ENSP00000244364:Q681H	Q	-	3	2	DST	56605762	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	0.232000	0.17891	0.172000	0.19760	0.529000	0.55759	CAA		0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		31	43	0	0	0	0.003271	0	31	43		
ZNF451	26036	broad.mit.edu	37	6	57015563	57015563	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:57015563G>A	ENST00000370706.4	+	11	2899	c.2655G>A	c.(2653-2655)atG>atA	p.M885I	RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.M885I|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	885					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGCGAACCATGACTCATATAG	0.363																																						uc003pdm.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(2653-2655)ATG>ATA		zinc finger protein 451 isoform 1							121.0	112.0	115.0					6																	57015563		1822	4074	5896	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57015563G>A	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2655G>A	6.37:g.57015563G>A	ENSP00000359740:p.Met885Ile					ZNF451_uc003pdl.2_Missense_Mutation_p.M885I|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.M885I	p.M885I	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		11	2879	+	Lung NSC(77;0.145)		885					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2655G>A	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.565762	0.86439	.	.	ENSG00000112200	ENST00000370706;ENST00000491832	T;T	0.06687	3.27;3.27	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	M	0.78049	2.395	0.80722	D	1	P;P;P	0.47762	0.817;0.9;0.9	B;B;B	0.41764	0.366;0.366;0.366	T	0.03034	-1.1080	10	0.72032	D	0.01	-19.1948	20.3472	0.98799	0.0:0.0:1.0:0.0	.	885;885;885	Q9Y4E5;E9PH99;Q4KMR5	ZN451_HUMAN;.;.	I	885	ENSP00000359740:M885I;ENSP00000421645:M885I	ENSP00000359740:M885I	M	+	3	0	ZNF451	57123522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.449000	0.73473	2.890000	0.99128	0.650000	0.86243	ATG		0.363	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2		NM_015555		29	78	0	0	0	0.012213	0	29	78		
COL12A1	1303	broad.mit.edu	37	6	75799843	75799843	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:75799843C>T	ENST00000322507.8	-	63	9233	c.8924G>A	c.(8923-8925)gGa>gAa	p.G2975E	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Missense_Mutation_p.G1811E|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2899E|COL12A1_ENST00000483888.2_Missense_Mutation_p.G2971E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2975	Collagen-like 4.|Triple-helical region (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCAGGGGGTCCCTGCATCCC	0.617																																						uc003phs.2		NaN																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(8923-8925)GGA>GAA		collagen, type XII, alpha 1 long isoform																																				SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75799843C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8924G>A	6.37:g.75799843C>T	ENSP00000325146:p.Gly2975Glu					COL12A1_uc003pht.2_Missense_Mutation_p.G1811E	p.G2975E	NM_004370	NP_004361	Q99715	COCA1_HUMAN			63	9090	-			2975			Triple-helical region (COL1) with 2 imperfections.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8924G>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650290	0.87958	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28;-6.28	5.48	5.48	0.80851	.	0.054977	0.64402	D	0.000001	D	0.99792	0.9912	H	0.94183	3.505	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97225	0.9880	10	0.87932	D	0	.	19.3625	0.94446	0.0:1.0:0.0:0.0	.	1811;2975	Q99715-2;Q99715	.;COCA1_HUMAN	E	2975;613;2899;1811;2899;2971	ENSP00000325146:G2975E;ENSP00000399812:G613E;ENSP00000305147:G1811E;ENSP00000412864:G2899E;ENSP00000421216:G2971E	ENSP00000325146:G2975E	G	-	2	0	COL12A1	75856563	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.487000	0.81328	2.567000	0.86603	0.655000	0.94253	GGA		0.617	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3		NM_004370		65	115	0	0	0	0.01441	0	65	115		
SNX14	57231	broad.mit.edu	37	6	86223790	86223790	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:86223790C>G	ENST00000314673.3	-	25	2731	c.2555G>C	c.(2554-2556)aGa>aCa	p.R852T	SNX14_ENST00000505648.1_Missense_Mutation_p.R800T|SNX14_ENST00000369627.2_Missense_Mutation_p.R843T|SNX14_ENST00000346348.3_Missense_Mutation_p.R799T|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Missense_Mutation_p.R571T	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	852					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ATACAAACCTCTGAGAAGTGT	0.318																																						uc003pkr.2		NaN																	0					0						c.(2554-2556)AGA>ACA		sorting nexin 14 isoform a							86.0	89.0	88.0					6																	86223790		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86223790C>G	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2555G>C	6.37:g.86223790C>G	ENSP00000313121:p.Arg852Thr					SNX14_uc003pkp.2_Missense_Mutation_p.R715T|SNX14_uc003pkq.2_Missense_Mutation_p.R458T|SNX14_uc011dzg.1_Missense_Mutation_p.R800T|SNX14_uc003pks.2_Missense_Mutation_p.R799T|SNX14_uc003pkt.2_Missense_Mutation_p.R843T	p.R852T	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	25	2748	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	852					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.2555G>C	CCDS5004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.374106|4.374106	0.82573|0.82573	.|.	.|.	ENSG00000135317|ENSG00000135317	ENST00000508658|ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	.|T;T;T;T;T;T	.|0.33438	.|1.41;1.41;1.41;1.41;1.41;1.41	5.88|5.88	5.88|5.88	0.94601|0.94601	.|Sorting nexin, C-terminal (1);	.|0.042408	.|0.85682	.|D	.|0.000000	T|T	0.48804|0.48804	0.1520|0.1520	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.994;0.993;0.992	T|T	0.44190|0.44190	-0.9344|-0.9344	5|10	.|0.72032	.|D	.|0.01	-19.2153|-19.2153	20.221|20.221	0.98325|0.98325	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|843;799;852;800	.|Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.|.;.;SNX14_HUMAN;.	Q|T	91|799;852;571;800;843;770	.|ENSP00000257769:R799T;ENSP00000313121:R852T;ENSP00000420938:R571T;ENSP00000427380:R800T;ENSP00000358641:R843T;ENSP00000425630:R770T	.|ENSP00000313121:R852T	E|R	-|-	1|2	0|0	SNX14|SNX14	86280509|86280509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	7.487000|7.487000	0.81328|0.81328	2.792000|2.792000	0.96026|0.96026	0.555000|0.555000	0.69702|0.69702	GAG|AGA		0.318	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2		NM_153816		34	36	0	0	0	0.006999	0	34	36		
BACH2	60468	broad.mit.edu	37	6	90647877	90647877	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:90647877C>T	ENST00000257749.4	-	8	2736	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	BACH2_ENST00000537989.1_Missense_Mutation_p.E677K|BACH2_ENST00000343122.3_Missense_Mutation_p.E677K	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	677	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TTGCGGATTTCACATTCTAAA	0.458																																						uc011eab.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(2029-2031)GAA>AAA		BTB and CNC homology 1, basic leucine zipper							100.0	102.0	101.0					6																	90647877		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90647877C>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2029G>A	6.37:g.90647877C>T	ENSP00000257749:p.Glu677Lys					BACH2_uc003pnw.2_Missense_Mutation_p.E677K	p.E677K	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	8	2838	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	677			Leucine-zipper.		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.2029G>A	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458111	0.96240	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	D;D;D	0.91945	-2.94;-2.94;-2.94	4.76	4.76	0.60689	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.122777	0.64402	D	0.000019	D	0.92509	0.7621	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	D	0.93780	0.7083	10	0.87932	D	0	-3.8352	17.9652	0.89098	0.0:1.0:0.0:0.0	.	677	Q9BYV9	BACH2_HUMAN	K	677	ENSP00000257749:E677K;ENSP00000437473:E677K;ENSP00000345642:E677K	ENSP00000257749:E677K	E	-	1	0	BACH2	90704598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.636000	0.83301	2.470000	0.83445	0.563000	0.77884	GAA		0.458	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2		NM_021813		24	116	0	0	0	0.010818	0	24	116		
COQ3	51805	broad.mit.edu	37	6	99823966	99823966	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:99823966G>A	ENST00000254759.3	-	5	603	c.579C>T	c.(577-579)gtC>gtT	p.V193V	COQ3_ENST00000369240.1_Intron|COQ3_ENST00000369242.1_Intron|COQ3_ENST00000479163.1_5'Flank	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	193					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TCTTATCCAGGACTGGATCAA	0.443																																						uc003ppk.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(577-579)GTC>GTT		hexaprenyldihydroxybenzoate methyltransferase							178.0	167.0	171.0					6																	99823966		2203	4300	6503	SO:0001819	synonymous_variant	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99823966G>A	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.579C>T	6.37:g.99823966G>A							p.V193V	NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	5	606	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	193					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Silent	SNP	ENST00000254759.3	37	c.579C>T	CCDS5042.1																																																																																				0.443	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1		NM_017421		32	134	0	0	0	0.005524	0	32	134		
SEC63	11231	broad.mit.edu	37	6	108202384	108202384	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:108202384G>T	ENST00000369002.4	-	18	2083	c.1904C>A	c.(1903-1905)aCa>aAa	p.T635K		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	635					liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CACAGGATGTGTTATTTTTGA	0.348																																						uc003psc.3		NaN																	0				ovary(1)|skin(1)	2						c.(1903-1905)ACA>AAA		SEC63-like protein							222.0	215.0	218.0					6																	108202384		2202	4300	6502	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108202384G>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1904C>A	6.37:g.108202384G>T	ENSP00000357998:p.Thr635Lys					SEC63_uc003psb.3_Missense_Mutation_p.T495K	p.T635K	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	18	2173	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	635			Potential.|Cytoplasmic (Potential).		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.1904C>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301617	0.95601	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.69926	-0.44	5.42	5.42	0.78866	Sec63 domain (2);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	L	0.53729	1.69	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.76071	0.883;0.987	T	0.71517	-0.4569	10	0.37606	T	0.19	-14.2816	19.2043	0.93723	0.0:0.0:1.0:0.0	.	635;635	Q9UGP8;B3KQF0	SEC63_HUMAN;.	K	635;253	ENSP00000357998:T635K	ENSP00000357998:T635K	T	-	2	0	SEC63	108309077	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.150000	0.94667	2.558000	0.86282	0.585000	0.79938	ACA		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4		NM_007214		28	46	1	0	8.88839e-20	0.010818	9.52996e-20	28	46		
TRAF3IP2	10758	broad.mit.edu	37	6	111913199	111913199	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:111913199C>T	ENST00000340026.6	-	3	712	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.E31K|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.E31K|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	40	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GGTTCTGATTCCTCTTCCGGG	0.463																																						uc011ebc.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(91-93)GAA>AAA		TRAF3 interacting protein 2 isoform 2							119.0	124.0	122.0					6																	111913199		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111913199C>T	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.118G>A	6.37:g.111913199C>T	ENSP00000345984:p.Glu40Lys					TRAF3IP2_uc003pvg.2_Missense_Mutation_p.E31K|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.E31K|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.E31K|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.E31K	p.E31K	NM_147686	NP_679211	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	3	706	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	40					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.91G>A		.	.	.	.	.	.	.	.	.	.	C	13.34	2.207430	0.39003	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.36878	1.24;1.23;1.23	5.68	2.87	0.33458	.	0.595355	0.16823	N	0.198088	T	0.16642	0.0400	M	0.66939	2.045	0.20975	N	0.999819	B;B;B	0.13145	0.004;0.007;0.002	B;B;B	0.12156	0.003;0.007;0.003	T	0.28490	-1.0042	10	0.62326	D	0.03	-8.7493	6.9804	0.24700	0.0:0.5856:0.27:0.1444	.	40;31;31	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	K	40;31;40;31	ENSP00000357750:E31K;ENSP00000345984:E40K;ENSP00000352889:E31K	ENSP00000345984:E40K	E	-	1	0	TRAF3IP2	112019892	0.242000	0.23868	0.000000	0.03702	0.892000	0.51952	0.891000	0.28309	0.316000	0.23135	0.561000	0.74099	GAA		0.463	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2				12	66	0	0	0	0.00245	0	12	66		
MAP3K5	4217	broad.mit.edu	37	6	137018501	137018501	+	Silent	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:137018501G>C	ENST00000359015.4	-	5	1191	c.831C>G	c.(829-831)ctC>ctG	p.L277L		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	277					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGATGTCATTGAGTATAGATT	0.358																																						uc003qhc.2		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.(829-831)CTC>CTG		mitogen-activated protein kinase kinase kinase							118.0	119.0	119.0					6																	137018501		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:137018501G>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.831C>G	6.37:g.137018501G>C						MAP3K5_uc011edk.1_Silent_p.L122L|MAP3K5_uc010kgw.1_Silent_p.L277L	p.L277L	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	5	1192	-	Colorectal(23;0.24)		277					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.831C>G	CCDS5179.1																																																																																				0.358	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1				15	100	0	0	0	0.007413	0	15	100		
TAB2	23118	broad.mit.edu	37	6	149699347	149699347	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:149699347G>T	ENST00000367456.1	+	4	873	c.296G>T	c.(295-297)gGa>gTa	p.G99V	TAB2_ENST00000538427.1_Missense_Mutation_p.G99V|TAB2_ENST00000536230.1_Missense_Mutation_p.G67V|TAB2_ENST00000286332.5_Missense_Mutation_p.G99V|TAB2_ENST00000392282.1_Missense_Mutation_p.G99V			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	99					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AGGATGAATGGAAGTAGGACT	0.453																																						uc003qmj.2		NaN																	0					0						c.(295-297)GGA>GTA		mitogen-activated protein kinase kinase kinase 7							130.0	112.0	118.0					6																	149699347		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149699347G>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.296G>T	6.37:g.149699347G>T	ENSP00000356426:p.Gly99Val					TAB2_uc011eec.1_Missense_Mutation_p.G67V|TAB2_uc010kia.1_Missense_Mutation_p.G99V|TAB2_uc010kib.1_Missense_Mutation_p.G99V|TAB2_uc003qmk.3_RNA	p.G99V	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	474	+			99					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.296G>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.027033	0.35797	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.79141	-1.24;-1.19;-1.21;-1.21;-1.21	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84230	0.0466	10	0.54805	T	0.06	-8.3073	20.1064	0.97896	0.0:0.0:1.0:0.0	.	67;99	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	V	67;99;99;99;99	ENSP00000443206:G67V;ENSP00000376106:G99V;ENSP00000445752:G99V;ENSP00000356426:G99V;ENSP00000286332:G99V	ENSP00000286332:G99V	G	+	2	0	TAB2	149741040	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	9.230000	0.95299	2.745000	0.94114	0.650000	0.86243	GGA		0.453	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3				7	67	1	0	0.000274275	0.004482	0.000279768	7	67		
LATS1	9113	broad.mit.edu	37	6	150023160	150023160	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:150023160G>A	ENST00000543571.1	-	2	650	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	LATS1_ENST00000253339.5_Missense_Mutation_p.R35W|LATS1_ENST00000542747.1_5'Flank|LATS1_ENST00000392273.3_Missense_Mutation_p.R35W	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGGGATTCCCGAATTTCTTGT	0.423																																						uc003qmu.1		NaN																	0				lung(5)|central_nervous_system(1)	6						c.(103-105)CGG>TGG		LATS homolog 1							148.0	145.0	146.0					6																	150023160		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150023160G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.103C>T	6.37:g.150023160G>A	ENSP00000437550:p.Arg35Trp					LATS1_uc010kif.1_5'UTR|LATS1_uc003qmv.1_Missense_Mutation_p.R35W|LATS1_uc003qmw.2_Missense_Mutation_p.R35W|LATS1_uc010kig.1_5'UTR	p.R35W	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	2	651	-		Ovarian(120;0.0164)	35						Missense_Mutation	SNP	ENST00000543571.1	37	c.103C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973594	0.74246	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.40476	1.03;1.03;1.03	5.33	5.33	0.75918	.	0.000000	0.47852	D	0.000204	T	0.59307	0.2184	M	0.72894	2.215	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.56444	-0.7978	9	.	.	.	.	19.192	0.93671	0.0:0.0:1.0:0.0	.	35;35	O95835-2;O95835	.;LATS1_HUMAN	W	35	ENSP00000437550:R35W;ENSP00000253339:R35W;ENSP00000444678:R35W	.	R	-	1	2	LATS1	150064853	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.087000	0.64480	2.774000	0.95407	0.491000	0.48974	CGG		0.423	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4		NM_004690		16	79	0	0	0	0.006122	0	16	79		
AKAP12	9590	broad.mit.edu	37	6	151674198	151674198	+	Missense_Mutation	SNP	G	G	A	rs192628192		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:151674198G>A	ENST00000253332.1	+	3	4861	c.4672G>A	c.(4672-4674)Gtt>Att	p.V1558I	AKAP12_ENST00000402676.2_Missense_Mutation_p.V1558I|AKAP12_ENST00000359755.5_Missense_Mutation_p.V1453I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V1460I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1558					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCAGACAGCCGTTGACCAGTT	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23336	0.0		0.0	False		,,,				2504	0.0				Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NaN																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(4672-4674)GTT>ATT		A kinase (PRKA) anchor protein 12 isoform 1		G	ILE/VAL,ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	111.0	112.0	112.0		4672,4378	5.0	0.5	6		112	0,8600		0,0,4300	no	missense,missense	AKAP12	NM_005100.3,NM_144497.2	29,29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging	1558/1783,1460/1685	151674198	3,13003	2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151674198G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4672G>A	6.37:g.151674198G>A	ENSP00000253332:p.Val1558Ile					AKAP12_uc003qoe.2_Missense_Mutation_p.V1558I|AKAP12_uc003qof.2_Missense_Mutation_p.V1460I|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.V1453I	p.V1558I	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	4912	+		Ovarian(120;0.125)	1558					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.4672G>A	CCDS5229.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	19.90	3.913013	0.72983	6.81E-4	0.0	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.13420	2.59;2.59;2.62;2.62	5.01	5.01	0.66863	RII binding domain (1);	0.000000	0.32533	N	0.005971	T	0.20373	0.0490	L	0.36672	1.1	0.44261	D	0.997119	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.972;0.972;0.989	T	0.01578	-1.1320	10	0.41790	T	0.15	.	18.7123	0.91662	0.0:0.0:1.0:0.0	.	1453;1460;1558	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	1558;1558;1460;1453	ENSP00000384537:V1558I;ENSP00000253332:V1558I;ENSP00000346702:V1460I;ENSP00000352794:V1453I	ENSP00000253332:V1558I	V	+	1	0	AKAP12	151715891	0.988000	0.35896	0.460000	0.27093	0.307000	0.27823	3.161000	0.50747	2.492000	0.84095	0.650000	0.86243	GTT		0.448	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1				28	91	0	0	0	0.003271	0	28	91		
SYNE1	23345	broad.mit.edu	37	6	152640037	152640037	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:152640037C>T	ENST00000367255.5	-	85	16951	c.16350G>A	c.(16348-16350)gcG>gcA	p.A5450A	SYNE1_ENST00000448038.1_Silent_p.A5379A|SYNE1_ENST00000265368.4_Silent_p.A5450A|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000341594.5_Silent_p.A5123A|SYNE1_ENST00000423061.1_Silent_p.A5379A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5450					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCTGTCTTCGCTTTCAGCT	0.378										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(16348-16350)GCG>GCA		spectrin repeat containing, nuclear envelope 1							118.0	111.0	113.0					6																	152640037		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152640037C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16350G>A	6.37:g.152640037C>T		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_5'Flank|SYNE1_uc003qos.3_5'Flank|SYNE1_uc003qot.3_Silent_p.A5379A|SYNE1_uc003qou.3_Silent_p.A5450A|SYNE1_uc010kiz.2_Silent_p.A1205A	p.A5450A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	85	16952	-		Ovarian(120;0.0955)	5450			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.16350G>A	CCDS5236.2																																																																																				0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		7	38	0	0	0	0.004482	0	7	38		
TIAM2	26230	broad.mit.edu	37	6	155451298	155451298	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr6:155451298C>T	ENST00000461783.3	+	6	2214	c.941C>T	c.(940-942)tCa>tTa	p.S314L	TIAM2_ENST00000456144.1_Missense_Mutation_p.S314L|TIAM2_ENST00000529824.2_Missense_Mutation_p.S314L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.S314L|TIAM2_ENST00000318981.5_Missense_Mutation_p.S314L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	314					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTCTCCCCCTCAGGTATCCGC	0.557																																						uc003qqb.2		NaN																	0				ovary(3)|breast(1)	4						c.(940-942)TCA>TTA		T-cell lymphoma invasion and metastasis 2							66.0	62.0	63.0					6																	155451298		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451298C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.941C>T	6.37:g.155451298C>T	ENSP00000437188:p.Ser314Leu					TIAM2_uc003qqe.2_Missense_Mutation_p.S314L	p.S314L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2214	+		Ovarian(120;0.196)	314					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.941C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	9.701	1.154615	0.21371	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05447	3.56;3.44;3.51;3.56;3.57;3.51	4.99	3.19	0.36642	.	0.830300	0.10974	N	0.613534	T	0.02494	0.0076	L	0.44542	1.39	0.53005	D	0.999969	B	0.21905	0.062	B	0.18561	0.022	T	0.25363	-1.0134	10	0.41790	T	0.15	.	9.0672	0.36471	0.0:0.7748:0.147:0.0782	.	314	Q8IVF5	TIAM2_HUMAN	L	314;560;314;314;314;314;314	ENSP00000437188:S314L;ENSP00000434901:S314L;ENSP00000407746:S314L;ENSP00000327315:S314L;ENSP00000353528:S314L;ENSP00000433348:S314L	ENSP00000327315:S314L	S	+	2	0	TIAM2	155492990	0.012000	0.17670	0.000000	0.03702	0.006000	0.05464	2.554000	0.45845	0.612000	0.30071	0.655000	0.94253	TCA		0.557	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2		NM_012454		21	30	0	0	0	0.00333	0	21	30		
SNX8	29886	broad.mit.edu	37	7	2311494	2311494	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:2311494G>A	ENST00000222990.3	-	4	573	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	177	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CCGAGCCGCTGAAGGACAGGA	0.637																																						uc003slw.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(529-531)TTC>TTT		sorting nexin 8							78.0	52.0	61.0					7																	2311494		2202	4300	6502	SO:0001819	synonymous_variant	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2311494G>A	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.531C>T	7.37:g.2311494G>A							p.F177F	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	4	574	-		Ovarian(82;0.11)	177			PX.		A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	c.531C>T	CCDS5331.1																																																																																				0.637	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2				5	10	0	0	0	0.000602	0	5	10		
SDK1	221935	broad.mit.edu	37	7	4189070	4189070	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:4189070G>A	ENST00000404826.2	+	30	4739	c.4600G>A	c.(4600-4602)Gag>Aag	p.E1534K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1534K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1534	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATCAGCCATGAGGCGACAGC	0.667																																						uc003smx.2		NaN																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(4600-4602)GAG>AAG		sidekick 1 precursor							39.0	33.0	35.0					7																	4189070		2202	4300	6502	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4189070G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4600G>A	7.37:g.4189070G>A	ENSP00000385899:p.Glu1534Lys					SDK1_uc010kso.2_Missense_Mutation_p.E810K|SDK1_uc003smy.2_Missense_Mutation_p.E21K	p.E1534K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	30	4739	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1534			Fibronectin type-III 9.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4600G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	7.541	0.660788	0.14645	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57273	0.41;0.41	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.224065	0.37809	N	0.001935	T	0.42337	0.1198	L	0.39326	1.205	0.32747	N	0.506956	P;P;P	0.43287	0.609;0.474;0.802	B;B;B	0.39706	0.272;0.066;0.307	T	0.53878	-0.8376	10	0.24483	T	0.36	.	11.9837	0.53133	0.0797:0.0:0.9203:0.0	.	1534;21;1534	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	K	1534	ENSP00000385899:E1534K;ENSP00000374182:E1534K	ENSP00000374182:E1534K	E	+	1	0	SDK1	4155596	0.999000	0.42202	0.998000	0.56505	0.160000	0.22226	2.924000	0.48876	2.391000	0.81399	0.462000	0.41574	GAG		0.667	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744		8	10	0	0	0	0.013537	0	8	10		
CCDC129	223075	broad.mit.edu	37	7	31682389	31682389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:31682389C>T	ENST00000407970.3	+	11	1443	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	CCDC129_ENST00000451887.2_Nonsense_Mutation_p.Q495*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.Q377*|CCDC129_ENST00000319386.3_Nonsense_Mutation_p.Q321*	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	469										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCAGGACTGTCAGCTAGAGTC	0.502																																						uc003tcj.1		NaN																	0					0						c.(1405-1407)CAG>TAG		coiled-coil domain containing 129							87.0	85.0	85.0					7																	31682389		2203	4300	6503	SO:0001587	stop_gained	223075							g.chr7:31682389C>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1405C>T	7.37:g.31682389C>T	ENSP00000384416:p.Gln469*					CCDC129_uc011kad.1_Nonsense_Mutation_p.Q479*|CCDC129_uc003tci.1_Nonsense_Mutation_p.Q320*|CCDC129_uc011kae.1_Nonsense_Mutation_p.Q495*|CCDC129_uc003tck.1_Nonsense_Mutation_p.Q377*	p.Q469*	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	2398	+			469					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Nonsense_Mutation	SNP	ENST00000407970.3	37	c.1405C>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074781	0.76415	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	.	.	.	4.87	3.97	0.46021	.	0.703505	0.13074	N	0.415850	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-17.7818	9.1906	0.37197	0.0:0.8989:0.0:0.1011	.	.	.	.	X	321;469;495;479;377	.	ENSP00000313062:Q321X	Q	+	1	0	CCDC129	31648914	0.879000	0.30193	0.223000	0.23860	0.047000	0.14425	1.786000	0.38694	2.545000	0.85829	0.585000	0.79938	CAG		0.502	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1		NM_194300		11	107	0	0	0	0.013537	0	11	107		
MRPS24	64951	broad.mit.edu	37	7	43908565	43908565	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:43908565T>C	ENST00000317534.5	-	3	278	c.217A>G	c.(217-219)Aca>Gca	p.T73A	URGCP-MRPS24_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	73					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						CGCTCACCTGTGTGCAGCGAC	0.557																																						uc003tit.1		NaN																	0					0						c.(217-219)ACA>GCA		mitochondrial ribosomal protein S24 precursor							73.0	68.0	70.0					7																	43908565		2203	4300	6503	SO:0001583	missense	64951				translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr7:43908565T>C	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.217A>G	7.37:g.43908565T>C	ENSP00000318158:p.Thr73Ala						p.T73A	NM_032014	NP_114403	Q96EL2	RT24_HUMAN			3	268	-			73					A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	ENST00000317534.5	37	c.217A>G	CCDS5473.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557068	0.86231	.	.	ENSG00000062582	ENST00000317534	T	0.53423	0.62	4.75	4.75	0.60458	.	0.152288	0.56097	D	0.000021	T	0.69771	0.3148	M	0.89095	3.005	0.80722	D	1	D	0.61697	0.99	D	0.63113	0.911	T	0.76493	-0.2939	10	0.87932	D	0	.	12.2165	0.54410	0.0:0.0:0.0:1.0	.	73	Q96EL2	RT24_HUMAN	A	73	ENSP00000318158:T73A	ENSP00000318158:T73A	T	-	1	0	MRPS24	43875090	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.431000	0.52814	1.768000	0.52137	0.460000	0.39030	ACA		0.557	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1		NM_032014		52	71	0	0	0	0.01441	0	52	71		
PKD1L1	168507	broad.mit.edu	37	7	47886526	47886526	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:47886526C>T	ENST00000289672.2	-	32	5154	c.5104G>A	c.(5104-5106)Gaa>Aaa	p.E1702K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1702	GPS.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGAAACGTTCAGATTTCCAC	0.408																																						uc003tny.1		NaN																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(5104-5106)GAA>AAA		polycystin-1L1							115.0	109.0	111.0					7																	47886526		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47886526C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5104G>A	7.37:g.47886526C>T	ENSP00000289672:p.Glu1702Lys						p.E1702K	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			32	5104	-			1702			Extracellular (Potential).|GPS.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.5104G>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533705	0.27387	.	.	ENSG00000158683	ENST00000289672	T	0.20738	2.05	5.07	3.05	0.35203	.	1.852050	0.02811	N	0.124320	T	0.12390	0.0301	N	0.19112	0.55	0.09310	N	1	P	0.40144	0.704	B	0.30716	0.119	T	0.26052	-1.0114	10	0.18276	T	0.48	-0.1518	6.534	0.22341	0.1716:0.7183:0.0:0.11	.	1702	Q8TDX9	PK1L1_HUMAN	K	1702	ENSP00000289672:E1702K	ENSP00000289672:E1702K	E	-	1	0	PKD1L1	47853051	0.008000	0.16893	0.001000	0.08648	0.956000	0.61745	1.909000	0.39917	0.386000	0.24997	0.563000	0.77884	GAA		0.408	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1		NM_138295		31	79	0	0	0	0.005524	0	31	79		
VWC2	375567	broad.mit.edu	37	7	49815164	49815164	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:49815164C>G	ENST00000340652.4	+	2	689	c.133C>G	c.(133-135)Cag>Gag	p.Q45E		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	45					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GCAGCCGGGCCAGGAGAAGCG	0.716																																						uc003tot.1		NaN																	0					0						c.(133-135)CAG>GAG		von Willebrand factor C domain containing 2							10.0	10.0	10.0					7																	49815164		2176	4229	6405	SO:0001583	missense	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49815164C>G	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.133C>G	7.37:g.49815164C>G	ENSP00000341819:p.Gln45Glu						p.Q45E	NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN			2	689	+			45					Q6UXE2	Missense_Mutation	SNP	ENST00000340652.4	37	c.133C>G	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877772	0.51801	.	.	ENSG00000188730	ENST00000340652	T	0.37411	1.2	4.71	4.71	0.59529	.	0.212167	0.31577	N	0.007414	T	0.29524	0.0736	N	0.24115	0.695	0.27552	N	0.950474	B	0.23316	0.083	B	0.24155	0.051	T	0.33624	-0.9861	10	0.87932	D	0	.	17.2358	0.86998	0.0:1.0:0.0:0.0	.	45	Q2TAL6	VWC2_HUMAN	E	45	ENSP00000341819:Q45E	ENSP00000341819:Q45E	Q	+	1	0	VWC2	49785710	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	3.465000	0.53064	2.112000	0.64535	0.561000	0.74099	CAG		0.716	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2		NM_198570		9	6	0	0	0	0.006214	0	9	6		
MRPS17	51373	broad.mit.edu	37	7	56022758	56022758	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:56022758C>T	ENST00000285298.4	+	3	409	c.280C>T	c.(280-282)Cca>Tca	p.P94S	MRPS17_ENST00000426595.1_Missense_Mutation_p.P189S	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	94					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGTCATAGATCCAGTGACAGG	0.458																																						uc003trd.2		NaN																	0					0						c.(280-282)CCA>TCA		mitochondrial ribosomal protein S17 precursor							100.0	99.0	99.0					7																	56022758		2203	4300	6503	SO:0001583	missense	51373				translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr7:56022758C>T	AB051352	CCDS5520.1	7p11-q11.21	2012-09-13			ENSG00000239789	ENSG00000239789		"""Mitochondrial ribosomal proteins / small subunits"""	14047	protein-coding gene	gene with protein product	"""28S ribosomal protein S17, mitochondrial"""	611980				11279123	Standard	NM_015969		Approved	HSPC011, RPMS17, MRP-S17	uc003trd.3	Q9Y2R5	OTTHUMG00000023153	ENST00000285298.4:c.280C>T	7.37:g.56022758C>T	ENSP00000285298:p.Pro94Ser					MRPS17_uc003trb.2_Missense_Mutation_p.P189S	p.P94S	NM_015969	NP_057053	Q9Y2R5	RT17_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	310	+	Breast(14;0.214)		94					Q86X15	Missense_Mutation	SNP	ENST00000285298.4	37	c.280C>T	CCDS5520.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119842	0.94385	.	.	ENSG00000249773;ENSG00000239789;ENSG00000239789	ENST00000426595;ENST00000285298;ENST00000443449	T	0.03580	3.88	4.84	4.84	0.62591	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.64402	D	0.000008	T	0.17959	0.0431	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00158	-1.1975	10	0.87932	D	0	.	17.1471	0.86769	0.0:1.0:0.0:0.0	.	94;106	Q9Y2R5;Q8IY71	RT17_HUMAN;.	S	189;94;94	ENSP00000390331:P189S	ENSP00000285298:P94S	P	+	1	0	MRPS17;RP11-15K19.2	55990252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.252000	0.78309	2.518000	0.84900	0.655000	0.94253	CCA		0.458	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251527.2		NM_015969		29	90	0	0	0	0.007291	0	29	90		
SEMA3A	10371	broad.mit.edu	37	7	83764184	83764184	+	Missense_Mutation	SNP	G	G	A	rs199979628		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:83764184G>A	ENST00000265362.4	-	2	510	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R66W	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	66	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.		R -> W (in HH16; phenotype consistent with Kallmann syndrome; dbSNP:rs199979628). {ECO:0000269|PubMed:22927827}.		apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGCCTACTCCGTTCCTCATCC	0.388																																						uc003uhz.2		NaN																	0				ovary(2)|breast(1)|kidney(1)	4						c.(196-198)CGG>TGG		semaphorin 3A precursor		G	TRP/ARG	0,4406		0,0,2203	114.0	107.0	109.0		196	4.9	1.0	7		109	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SEMA3A	NM_006080.2	101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	66/772	83764184	4,13002	2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83764184G>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.196C>T	7.37:g.83764184G>A	ENSP00000265362:p.Arg66Trp						p.R66W	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			2	511	-			66			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.196C>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.086953	0.76642	0.0	4.65E-4	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.12039	2.72;2.72;2.72	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.221539	0.43416	D	0.000578	T	0.45377	0.1339	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54721	-0.8251	10	0.87932	D	0	.	18.5015	0.90882	0.0:0.0:1.0:0.0	.	66	Q14563	SEM3A_HUMAN	W	66	ENSP00000265362:R66W;ENSP00000415260:R66W;ENSP00000391900:R66W	ENSP00000265362:R66W	R	-	1	2	SEMA3A	83602120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.000000	0.40816	2.434000	0.82447	0.467000	0.42956	CGG		0.388	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2		NM_006080		3	72	0	0	0	0.000602	0	3	72		
SPDYE3	441272	broad.mit.edu	37	7	99917593	99917593	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:99917593G>A	ENST00000332397.6	+	10	1814	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N	SPDYE3_ENST00000437326.2_Missense_Mutation_p.D167N	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	544								p.D544N(1)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTGGGCGCGAGATCGCGCCCA	0.582																																						uc003uug.1		NaN																	1	Substitution - Missense(1)		NS(1)		0						c.(499-501)GAT>AAT		speedy homolog E3							13.0	20.0	17.0					7																	99917593		1254	2302	3556	SO:0001583	missense	441272							g.chr7:99917593G>A	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1630G>A	7.37:g.99917593G>A	ENSP00000329565:p.Asp544Asn					uc011kjm.1_5'Flank	p.D167N	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN			5	739	+			544					Q495Y9|Q6PHC4	Missense_Mutation	SNP	ENST00000332397.6	37	c.499G>A	CCDS47658.2	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005052	0.35415	.	.	ENSG00000214300	ENST00000332397;ENST00000437326	.	.	.	0.185	0.185	0.15096	.	0.093080	0.44097	D	0.000488	T	0.46034	0.1372	M	0.70903	2.155	0.09310	N	1	.	.	.	.	.	.	T	0.39702	-0.9601	6	0.59425	D	0.04	.	.	.	.	.	.	.	.	N	544;167	.	ENSP00000329565:D544N	D	+	1	0	SPDYE3	99755529	0.996000	0.38824	0.021000	0.16686	0.021000	0.10359	1.061000	0.30542	0.293000	0.22520	0.298000	0.19748	GAT		0.582	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2		NM_001004351		27	18	0	0	0	0.012213	0	27	18		
SRRT	51593	broad.mit.edu	37	7	100485992	100485992	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:100485992A>C	ENST00000347433.4	+	19	2701	c.2543A>C	c.(2542-2544)aAa>aCa	p.K848T	SRRT_ENST00000457580.2_Missense_Mutation_p.K844T|SRRT_ENST00000388793.4_Missense_Mutation_p.K847T|SRRT_ENST00000432932.1_Missense_Mutation_p.K843T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	848					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TATCCTGGGAAACCTCGCAAC	0.612																																						uc003uwy.2		NaN																	0				ovary(2)	2						c.(2542-2544)AAA>ACA		arsenate resistance protein 2 isoform a							60.0	60.0	60.0					7																	100485992		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100485992A>C		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2543A>C	7.37:g.100485992A>C	ENSP00000314491:p.Lys848Thr					SRRT_uc010lhl.1_Missense_Mutation_p.K847T|SRRT_uc003uxa.2_Missense_Mutation_p.K843T|SRRT_uc003uwz.2_Missense_Mutation_p.K844T|uc010lhm.1_5'Flank	p.K848T	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			20	2811	+			848					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.2543A>C	CCDS34709.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.30|17.30	3.353682|3.353682	0.61293|0.61293	.|.	.|.	ENSG00000087087|ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764|ENST00000342198	.|.	.|.	.|.	4.59|4.59	4.59|4.59	0.56863|0.56863	Arsenite-resistance protein 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65460|0.65460	0.2693|0.2693	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.995|.	D;D;D;D|.	0.80764|.	0.994;0.991;0.991;0.945|.	T|T	0.69266|0.69266	-0.5190|-0.5190	9|6	0.19590|0.87932	T|D	0.45|0	.|.	11.9536|11.9536	0.52968|0.52968	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	847;843;844;848|.	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5|.	.;.;.;SRRT_HUMAN|.	T|H	844;847;843;848;471|212	.|.	ENSP00000314491:K848T|ENSP00000344670:N212H	K|N	+|+	2|1	0|0	SRRT|SRRT	100323928|100323928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	8.310000|8.310000	0.89971|0.89971	1.931000|1.931000	0.55961|0.55961	0.397000|0.397000	0.26171|0.26171	AAA|AAC		0.612	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1		NM_015908		11	13	0	0	0	0.013537	0	11	13		
LAMB4	22798	broad.mit.edu	37	7	107746973	107746973	+	Silent	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:107746973A>C	ENST00000388781.3	-	7	719	c.636T>G	c.(634-636)ccT>ccG	p.P212P	LAMB4_ENST00000418464.1_Silent_p.P212P|LAMB4_ENST00000414450.2_Silent_p.P212P|LAMB4_ENST00000205386.4_Silent_p.P212P|LAMB4_ENST00000388780.3_Silent_p.P212P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	212	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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						AGGGGCTATAAGGGTTTTCAA	0.274																																						uc010ljo.1		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(634-636)CCT>CCG		laminin, beta 4 precursor							40.0	43.0	42.0					7																	107746973		2200	4300	6500	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107746973A>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.636T>G	7.37:g.107746973A>C						LAMB4_uc003vey.2_Silent_p.P212P	p.P212P	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			7	720	-			212			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.636T>G	CCDS34732.1																																																																																				0.274	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1		XM_209857		11	7	0	0	0	0.010729	0	11	7		
AKR1D1	6718	broad.mit.edu	37	7	137798473	137798473	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:137798473A>G	ENST00000242375.3	+	8	935	c.893A>G	c.(892-894)gAc>gGc	p.D298G	AKR1D1_ENST00000432161.1_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.D257G|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	298					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	GAAATGAAGGACATTGAAGCC	0.388																																						uc003vtz.2		NaN																	0				skin(1)	1						c.(892-894)GAC>GGC		aldo-keto reductase family 1, member D1							110.0	102.0	105.0					7																	137798473		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137798473A>G	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.893A>G	7.37:g.137798473A>G	ENSP00000242375:p.Asp298Gly					AKR1D1_uc011kqe.1_Intron|AKR1D1_uc011kqf.1_Missense_Mutation_p.D257G|AKR1D1_uc010lmy.1_RNA	p.D298G	NM_005989	NP_005980	P51857	AK1D1_HUMAN			8	962	+			298					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.893A>G	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.471122	0.26423	.	.	ENSG00000122787	ENST00000411726;ENST00000242375	T;T	0.24151	1.87;1.87	4.93	-6.8	0.01709	NADP-dependent oxidoreductase domain (3);	1.041410	0.07471	N	0.902298	T	0.16085	0.0387	L	0.27053	0.805	0.21527	N	0.999651	B;B	0.26445	0.149;0.02	B;B	0.30943	0.122;0.075	T	0.41680	-0.9495	10	0.54805	T	0.06	.	7.9458	0.29985	0.344:0.225:0.431:0.0	.	257;298	B4DPN8;P51857	.;AK1D1_HUMAN	G	257;298	ENSP00000402374:D257G;ENSP00000242375:D298G	ENSP00000242375:D298G	D	+	2	0	AKR1D1	137449013	0.765000	0.28485	0.002000	0.10522	0.913000	0.54294	0.260000	0.18424	-1.251000	0.02494	0.383000	0.25322	GAC		0.388	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1		NM_005989		13	23	0	0	0	0.006122	0	13	23		
ZYX	7791	broad.mit.edu	37	7	143079495	143079495	+	Silent	SNP	G	G	A	rs533497418|rs386718789	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:143079495G>A	ENST00000322764.5	+	3	708	c.363G>A	c.(361-363)ccG>ccA	p.P121P	ZYX_ENST00000449423.2_Silent_p.P65P|ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000477373.1_Intron|AC093673.5_ENST00000429630.1_RNA	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	121	Pro-rich.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGCCTCCTCCGGAGGAGGAGG	0.697																																						uc003wcw.2		NaN																	0					0						c.(361-363)CCG>CCA		zyxin							11.0	13.0	13.0					7																	143079495		2166	4237	6403	SO:0001819	synonymous_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143079495G>A	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.363G>A	7.37:g.143079495G>A						ZYX_uc011ktd.1_5'UTR|ZYX_uc003wcx.2_Silent_p.P121P|ZYX_uc011kte.1_Silent_p.P121P|ZYX_uc011ktf.1_5'UTR	p.P121P	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN			3	518	+	Melanoma(164;0.205)		121			Pro-rich.		A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	c.363G>A	CCDS5883.1																																																																																				0.697	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2		NM_003461		14	17	0	0	0	0.004007	0	14	17		
KMT2C	58508	broad.mit.edu	37	7	151896487	151896487	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:151896487C>T	ENST00000262189.6	-	27	4368	c.4150G>A	c.(4150-4152)Gat>Aat	p.D1384N	KMT2C_ENST00000355193.2_Missense_Mutation_p.D1384N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1384					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GACAGATTATCTAAACTTATC	0.348																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(4150-4152)GAT>AAT		myeloid/lymphoid or mixed-lineage leukemia 3							79.0	78.0	78.0					7																	151896487		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151896487C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4150G>A	7.37:g.151896487C>T	ENSP00000262189:p.Asp1384Asn					MLL3_uc003wkz.2_Missense_Mutation_p.D445N	p.D1384N	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	27	4369	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1384					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.4150G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276716	0.59758	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83992	-1.79;-1.79	5.45	4.57	0.56435	.	0.000000	0.47852	D	0.000208	D	0.87402	0.6168	L	0.60455	1.87	0.80722	D	1	D;D	0.62365	0.966;0.991	P;P	0.59595	0.462;0.86	D	0.86638	0.1890	10	0.38643	T	0.18	.	15.6111	0.76716	0.1387:0.8613:0.0:0.0	.	1384;445	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	N	1384	ENSP00000262189:D1384N;ENSP00000347325:D1384N	ENSP00000262189:D1384N	D	-	1	0	MLL3	151527420	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	5.277000	0.65586	1.299000	0.44798	0.650000	0.86243	GAT		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				16	13	0	0	0	0.00499	0	16	13		
PSD3	23362	broad.mit.edu	37	8	18729886	18729886	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:18729886C>T	ENST00000327040.8	-	3	590	c.488G>A	c.(487-489)aGt>aAt	p.S163N	PSD3_ENST00000523619.1_Missense_Mutation_p.S98N|PSD3_ENST00000440756.2_Missense_Mutation_p.S163N	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	163					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AACTGAAAAACTAGAAACAGC	0.443																																						uc003wza.2		NaN																	0				ovary(3)	3						c.(487-489)AGT>AAT		ADP-ribosylation factor guanine nucleotide							91.0	90.0	90.0					8																	18729886		1876	4102	5978	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729886C>T	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.488G>A	8.37:g.18729886C>T	ENSP00000324127:p.Ser163Asn						p.S163N	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	591	-			163					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.488G>A	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	5.325	0.245275	0.10077	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.32515	1.45;1.45;1.45	6.06	0.587	0.17439	.	1.387060	0.04200	N	0.329814	T	0.15609	0.0376	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17592	-1.0364	10	0.20519	T	0.43	.	0.8249	0.01118	0.1765:0.334:0.1353:0.3542	.	163	E9KL50	.	N	163;163;98	ENSP00000324127:S163N;ENSP00000401704:S163N;ENSP00000430640:S98N	ENSP00000324127:S163N	S	-	2	0	PSD3	18774166	0.001000	0.12720	0.007000	0.13788	0.877000	0.50540	0.639000	0.24690	0.136000	0.18733	-0.140000	0.14226	AGT		0.443	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1		NM_015310		9	31	0	0	0	0.006214	0	9	31		
SCARA5	286133	broad.mit.edu	37	8	27737165	27737165	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:27737165C>T	ENST00000354914.3	-	8	1757	c.1272G>A	c.(1270-1272)aaG>aaA	p.K424K	SCARA5_ENST00000380385.2_Silent_p.K199K	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	424	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CTCCGTCCTTCTTGTCCCAGC	0.642																																						uc003xgj.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1270-1272)AAG>AAA		scavenger receptor class A, member 5							136.0	108.0	117.0					8																	27737165		2203	4300	6503	SO:0001819	synonymous_variant	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27737165C>T	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1272G>A	8.37:g.27737165C>T						SCARA5_uc010luz.2_Silent_p.K199K	p.K424K	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	8	1712	-		Ovarian(32;0.0218)	424			SRCR.|Extracellular (Potential).		Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	ENST00000354914.3	37	c.1272G>A	CCDS6064.1																																																																																				0.642	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2		NM_173833		32	118	0	0	0	0.005524	0	32	118		
HGSNAT	138050	broad.mit.edu	37	8	43053085	43053085	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:43053085C>G	ENST00000458501.2	+	17	1800	c.1800C>G	c.(1798-1800)ttC>ttG	p.F600L	HGSNAT_ENST00000297798.7_Missense_Mutation_p.F304L|HGSNAT_ENST00000379644.4_Missense_Mutation_p.F572L|HGSNAT_ENST00000521576.1_Missense_Mutation_p.F289L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	600					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GAACCCCATTCTTTTATCCAG	0.547																																						uc003xpx.3		NaN																	0					0						c.(1714-1716)TTC>TTG		heparan-alpha-glucosaminide N-acetyltransferase							94.0	90.0	91.0					8																	43053085		1921	4138	6059	SO:0001583	missense	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43053085C>G		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1800C>G	8.37:g.43053085C>G	ENSP00000389524:p.Phe600Leu						p.F572L	NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		17	1764	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	600			Helical; (Potential).		B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37	c.1716C>G		.	.	.	.	.	.	.	.	.	.	C	15.70	2.910347	0.52439	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95	6.01	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.88815	0.6539	M	0.64567	1.98	0.58432	D	0.999999	P	0.47106	0.89	B	0.41202	0.35	D	0.84911	0.0848	10	0.31617	T	0.26	-30.5011	8.1785	0.31296	0.0:0.7658:0.0:0.2342	.	600	Q68CP4	HGNAT_HUMAN	L	600;572;289;304	ENSP00000389524:F600L;ENSP00000368965:F572L;ENSP00000429029:F289L;ENSP00000297798:F304L	ENSP00000297798:F304L	F	+	3	2	HGSNAT	43172242	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	2.268000	0.43338	0.880000	0.35969	0.609000	0.83330	TTC		0.547	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding			XM_372038		6	35	0	0	0	0.001984	0	6	35		
CHD7	55636	broad.mit.edu	37	8	61754499	61754499	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:61754499G>A	ENST00000423902.2	+	21	5217	c.4738G>A	c.(4738-4740)Gaa>Aaa	p.E1580K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1580					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTCAGACTTGGAAAGTGATTC	0.468																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(4738-4740)GAA>AAA		chromodomain helicase DNA binding protein 7							72.0	71.0	72.0					8																	61754499		1929	4134	6063	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61754499G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4738G>A	8.37:g.61754499G>A	ENSP00000392028:p.Glu1580Lys						p.E1580K	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		21	5215	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1580					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.4738G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	36	5.936092	0.97122	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.83755	-1.76	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.88187	0.6369	M	0.79475	2.455	0.80722	D	1	P	0.46656	0.882	P	0.48901	0.594	D	0.88946	0.3383	10	0.66056	D	0.02	-23.5932	20.054	0.97641	0.0:0.0:1.0:0.0	.	1580	Q9P2D1	CHD7_HUMAN	K	1580	ENSP00000392028:E1580K	ENSP00000307304:E1580K	E	+	1	0	CHD7	61917053	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.808000	0.96608	0.655000	0.94253	GAA		0.468	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		5	17	0	0	0	0.000602	0	5	17		
BHLHE22	27319	broad.mit.edu	37	8	65494338	65494338	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:65494338G>A	ENST00000321870.1	+	1	1525	c.991G>A	c.(991-993)Gct>Act	p.A331T	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	331	Ala-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						AGCGGCAGCAGCTGCTGCCCT	0.741																																					Colon(113;104 1586 2865 9855 18065)	uc003xvi.2		NaN																	0					0						c.(991-993)GCT>ACT		basic helix-loop-helix domain containing, class							4.0	4.0	4.0					8																	65494338		1894	3742	5636	SO:0001583	missense	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494338G>A	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.991G>A	8.37:g.65494338G>A	ENSP00000318799:p.Ala331Thr					LOC401463_uc003xvh.2_5'UTR	p.A331T	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN			1	1525	+			331			Ala-rich.			Missense_Mutation	SNP	ENST00000321870.1	37	c.991G>A	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533690	0.45073	.	.	ENSG00000180828	ENST00000321870	D	0.96830	-4.14	4.27	3.39	0.38822	.	0.077167	0.52532	U	0.000072	D	0.89497	0.6732	N	0.19112	0.55	0.32481	N	0.541497	P	0.43094	0.799	B	0.33799	0.17	D	0.89855	0.4012	10	0.52906	T	0.07	-3.5395	8.5248	0.33298	0.1815:0.0:0.8185:0.0	.	331	Q8NFJ8	BHE22_HUMAN	T	331	ENSP00000318799:A331T	ENSP00000318799:A331T	A	+	1	0	BHLHE22	65656892	1.000000	0.71417	0.672000	0.29872	0.655000	0.38815	0.899000	0.28417	0.994000	0.38892	0.313000	0.20887	GCT		0.741	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1		NM_152414		4	5	0	0	0	0.000602	0	4	5		
TRAM1	23471	broad.mit.edu	37	8	71510491	71510491	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:71510491C>T	ENST00000262213.2	-	3	357		c.e3-1		TRAM1_ENST00000521425.1_Splice_Site|TRAM1_ENST00000536748.1_Splice_Site|TRAM1_ENST00000521049.1_Intron	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						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)			GCTTGTTCTTCTGAAGACCAA	0.333																																					Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.1		NaN																	0				ovary(1)	1						c.e3-1		translocation associated membrane protein 1							92.0	87.0	88.0					8																	71510491		2203	4299	6502	SO:0001630	splice_region_variant	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71510491C>T	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.188-1G>A	8.37:g.71510491C>T						TRAM1_uc011lfc.1_Splice_Site_p.E32_splice	p.E63_splice	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		3	358	-								B4E0K2	Splice_Site	SNP	ENST00000262213.2	37	c.188_splice	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927472	0.73327	.	.	ENSG00000067167	ENST00000262213;ENST00000536748;ENST00000518678	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5504	0.95315	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAM1	71673045	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.627000	0.83176	2.688000	0.91661	0.655000	0.94253	.		0.333	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1		NM_014294	Intron	13	35	0	0	0	0.003163	0	13	35		
KIAA1429	25962	broad.mit.edu	37	8	95547204	95547204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:95547204C>T	ENST00000297591.5	-	5	422	c.347G>A	c.(346-348)tGg>tAg	p.W116*	KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.W116*|RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.W116*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	116					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACAGTTATACCAGCCTCTTAG	0.448																																						uc003ygo.1		NaN																	0				ovary(1)|skin(1)	2						c.(346-348)TGG>TAG		hypothetical protein LOC25962 isoform 1							117.0	105.0	109.0					8																	95547204		2203	4300	6503	SO:0001587	stop_gained	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95547204C>T	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.347G>A	8.37:g.95547204C>T	ENSP00000297591:p.Trp116*					KIAA1429_uc003ygp.2_Nonsense_Mutation_p.W116*	p.W116*	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		5	360	-	Breast(36;3.29e-05)		116					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	c.347G>A	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	35	5.488393	0.96323	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6561	19.4293	0.94758	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000297591:W116X	W	-	2	0	KIAA1429	95616380	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.654000	0.90174	0.591000	0.81541	TGG		0.448	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2		NM_015496		41	158	0	0	0	0.01441	0	41	158		
FZD6	8323	broad.mit.edu	37	8	104337528	104337528	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:104337528A>C	ENST00000358755.4	+	4	1511	c.1194A>C	c.(1192-1194)caA>caC	p.Q398H	FZD6_ENST00000523739.1_Missense_Mutation_p.Q366H|FZD6_ENST00000540287.1_Missense_Mutation_p.Q93H|FZD6_ENST00000522566.1_Missense_Mutation_p.Q398H	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	398					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ATGTTCGACAAGTCATACAAC	0.408																																						uc003ylh.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1192-1194)CAA>CAC		frizzled 6 isoform a precursor							183.0	181.0	182.0					8																	104337528		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337528A>C	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1194A>C	8.37:g.104337528A>C	ENSP00000351605:p.Gln398His					FZD6_uc003yli.2_Missense_Mutation_p.Q398H|FZD6_uc003ylj.2_Missense_Mutation_p.Q398H|FZD6_uc011lhn.1_Missense_Mutation_p.Q364H|FZD6_uc011lho.1_Missense_Mutation_p.Q93H|FZD6_uc011lhp.1_Missense_Mutation_p.Q343H	p.Q398H	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	1478	+			398			Cytoplasmic (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1194A>C	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.957487	0.53400	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	6.03	4.85	0.62838	GPCR, family 2-like (1);	0.111803	0.64402	D	0.000006	D	0.85660	0.5748	L	0.39633	1.23	0.49687	D	0.999811	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.984;0.998;0.999;0.984	D	0.84415	0.0568	10	0.46703	T	0.11	.	9.1855	0.37168	0.7992:0.0:0.2008:0.0	.	343;93;398;398	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	H	398;398;366;93;343	ENSP00000429055:Q398H;ENSP00000351605:Q398H;ENSP00000429528:Q366H;ENSP00000443757:Q93H	ENSP00000351605:Q398H	Q	+	3	2	FZD6	104406704	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.825000	0.48096	1.071000	0.40834	0.455000	0.32223	CAA		0.408	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1		NM_003506		68	194	0	0	0	0.01441	0	68	194		
KCNV1	27012	broad.mit.edu	37	8	110984991	110984991	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:110984991C>G	ENST00000524391.1	-	3	1519	c.487G>C	c.(487-489)Gaa>Caa	p.E163Q	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.E163Q			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	163					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCTAAAGTTTCACTCAGCTCT	0.383																																						uc003ynr.3		NaN																	0				lung(1)|kidney(1)	2						c.(487-489)GAA>CAA		potassium channel, subfamily V, member 1							130.0	128.0	129.0					8																	110984991		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984991C>G	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.487G>C	8.37:g.110984991C>G	ENSP00000435954:p.Glu163Gln					KCNV1_uc010mcw.2_Missense_Mutation_p.E163Q	p.E163Q	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	829	-	all_neural(195;0.219)		163			Cytoplasmic (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.487G>C	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866326	0.71949	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98150	-4.75;-4.75	5.05	5.05	0.67936	BTB/POZ fold (1);	0.228496	0.29791	N	0.011188	D	0.98343	0.9450	M	0.63428	1.95	0.58432	D	0.999999	D	0.71674	0.998	D	0.75484	0.986	D	0.99429	1.0935	10	0.62326	D	0.03	.	17.7506	0.88432	0.0:1.0:0.0:0.0	.	163	Q6PIU1	KCNV1_HUMAN	Q	163;163;39	ENSP00000435954:E163Q;ENSP00000297404:E163Q	ENSP00000297404:E163Q	E	-	1	0	KCNV1	111054167	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.939000	0.75911	2.499000	0.84300	0.557000	0.71058	GAA		0.383	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1		NM_014379		54	76	0	0	0	0.01441	0	54	76		
CSMD3	114788	broad.mit.edu	37	8	113304838	113304838	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:113304838G>A	ENST00000297405.5	-	55	8960	c.8716C>T	c.(8716-8718)Ctt>Ttt	p.L2906F	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2836F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2866F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2737F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2906	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTGCATAAGATACCCAATA	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8716-8718)CTT>TTT		CUB and Sushi multiple domains 3 isoform 1							200.0	170.0	180.0					8																	113304838		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113304838G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8716C>T	8.37:g.113304838G>A	ENSP00000297405:p.Leu2906Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L2108F|CSMD3_uc003ynt.2_Missense_Mutation_p.L2866F|CSMD3_uc011lhx.1_Missense_Mutation_p.L2737F	p.L2906F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			55	8875	-			2906			Extracellular (Potential).|Sushi 19.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8716C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557879	0.27827	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.76	1.66	0.24008	Complement control module (2);Sushi/SCR/CCP (3);	0.731066	0.12335	N	0.478034	T	0.45276	0.1334	L	0.43598	1.365	0.29591	N	0.848456	B;B;P	0.35174	0.042;0.154;0.488	B;B;B	0.34722	0.03;0.063;0.188	T	0.34153	-0.9840	10	0.12103	T	0.63	.	3.7851	0.08697	0.0818:0.3797:0.3138:0.2247	.	2737;2906;2866	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2866;2906;2176;2737;2836	ENSP00000345799:L2866F;ENSP00000297405:L2906F;ENSP00000341558:L2176F;ENSP00000412263:L2737F;ENSP00000343124:L2836F	ENSP00000297405:L2906F	L	-	1	0	CSMD3	113374014	0.821000	0.29204	0.949000	0.38748	0.557000	0.35523	0.338000	0.19858	0.775000	0.33450	-0.142000	0.14014	CTT		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		49	156	0	0	0	0.01441	0	49	156		
CSMD3	114788	broad.mit.edu	37	8	113363413	113363413	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:113363413T>C	ENST00000297405.5	-	40	6560	c.6316A>G	c.(6316-6318)Att>Gtt	p.I2106V	CSMD3_ENST00000352409.3_Missense_Mutation_p.I2036V|CSMD3_ENST00000343508.3_Missense_Mutation_p.I2066V|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2002V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2106	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTAAACAAATTGGGATTGGA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6316-6318)ATT>GTT		CUB and Sushi multiple domains 3 isoform 1							112.0	114.0	113.0					8																	113363413		2203	4290	6493	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113363413T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6316A>G	8.37:g.113363413T>C	ENSP00000297405:p.Ile2106Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.I1308V|CSMD3_uc003ynt.2_Missense_Mutation_p.I2066V|CSMD3_uc011lhx.1_Missense_Mutation_p.I2002V	p.I2106V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			40	6475	-			2106			Extracellular (Potential).|Sushi 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6316A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096990	0.37048	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	4.47	4.47	0.54385	Complement control module (2);Sushi/SCR/CCP (3);	0.098644	0.44097	D	0.000488	T	0.38161	0.1030	N	0.10664	0.02	0.39308	D	0.965027	B;B;P	0.39903	0.167;0.044;0.694	B;B;B	0.40901	0.138;0.029;0.343	T	0.37502	-0.9703	10	0.07325	T	0.83	.	10.3721	0.44060	0.0:0.0807:0.0:0.9193	.	2002;2106;2066	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	2066;2106;1376;2002;2036	ENSP00000345799:I2066V;ENSP00000297405:I2106V;ENSP00000341558:I1376V;ENSP00000412263:I2002V;ENSP00000343124:I2036V	ENSP00000297405:I2106V	I	-	1	0	CSMD3	113432589	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.333000	0.59285	1.988000	0.58038	0.528000	0.53228	ATT		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		15	85	0	0	0	0.006122	0	15	85		
RAD21	5885	broad.mit.edu	37	8	117864827	117864827	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:117864827C>A	ENST00000297338.2	-	10	1569	c.1282G>T	c.(1282-1284)Gag>Tag	p.E428*	RAD21_ENST00000518055.1_5'Flank|RAD21_ENST00000523986.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	428					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGCTGGTCCTCTCTAGGAACC	0.413																																						uc003yod.2		NaN																	0				lung(1)|skin(1)	2						c.(1282-1284)GAG>TAG		RAD21 homolog							129.0	121.0	124.0					8																	117864827		2203	4300	6503	SO:0001587	stop_gained	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117864827C>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1282G>T	8.37:g.117864827C>A	ENSP00000297338:p.Glu428*						p.E428*	NM_006265	NP_006256	O60216	RAD21_HUMAN			10	1570	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		428					A8K0E0|Q15001|Q99568	Nonsense_Mutation	SNP	ENST00000297338.2	37	c.1282G>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	42	9.391529	0.99158	.	.	ENSG00000164754	ENST00000297338	.	.	.	5.53	5.53	0.82687	.	0.091491	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-3.9123	19.4713	0.94963	0.0:1.0:0.0:0.0	.	.	.	.	X	428	.	ENSP00000297338:E428X	E	-	1	0	RAD21	117934008	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.817000	0.69229	2.587000	0.87381	0.563000	0.77884	GAG		0.413	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1		NM_006265		18	126	1	0	6.33239e-15	0.010504	6.70875e-15	18	126		
TG	7038	broad.mit.edu	37	8	133899037	133899037	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:133899037G>C	ENST00000220616.4	+	9	1460	c.1420G>C	c.(1420-1422)Ggg>Cgg	p.G474R	TG_ENST00000377869.1_Missense_Mutation_p.G474R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	474					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTTTTGGAGGGAAATTTTT	0.473																																						uc003ytw.2		NaN																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(1420-1422)GGG>CGG		thyroglobulin precursor							69.0	74.0	72.0					8																	133899037		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899037G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1420G>C	8.37:g.133899037G>C	ENSP00000220616:p.Gly474Arg						p.G474R	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1461	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	474					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.1420G>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800432	0.90538	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.82255	-1.59;-1.53	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000004	D	0.91566	0.7336	M	0.77103	2.36	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.91929	0.5553	10	0.87932	D	0	.	19.0314	0.92959	0.0:0.0:1.0:0.0	.	474	P01266	THYG_HUMAN	R	474	ENSP00000367100:G474R;ENSP00000220616:G474R	ENSP00000220616:G474R	G	+	1	0	TG	133968219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.968000	0.93407	2.740000	0.93945	0.650000	0.86243	GGG		0.473	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235		32	41	0	0	0	0.012213	0	32	41		
ZNF251	90987	broad.mit.edu	37	8	145947530	145947530	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr8:145947530A>C	ENST00000292562.7	-	5	1790	c.1515T>G	c.(1513-1515)atT>atG	p.I505M	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	505					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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTGATGCTGAATGAGGGTTG	0.537																																						uc003zdv.3		NaN																	0					0						c.(1513-1515)ATT>ATG		zinc finger protein 251							90.0	98.0	95.0					8																	145947530		2198	4299	6497	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947530A>C	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1515T>G	8.37:g.145947530A>C	ENSP00000292562:p.Ile505Met						p.I505M	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1771	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		505			C2H2-type 11.		Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.1515T>G	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	A	3.658	-0.070223	0.07228	.	.	ENSG00000198169	ENST00000292562	T	0.15834	2.39	1.95	0.708	0.18144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12561	0.0305	L	0.42581	1.335	0.09310	N	1	B	0.17268	0.021	B	0.19391	0.025	T	0.32745	-0.9895	9	0.33141	T	0.24	.	3.5067	0.07693	0.3812:0.4074:0.0:0.2114	.	505	Q9BRH9	ZN251_HUMAN	M	505	ENSP00000292562:I505M	ENSP00000292562:I505M	I	-	3	3	ZNF251	145918339	0.000000	0.05858	0.975000	0.42487	0.731000	0.41821	-4.568000	0.00214	0.194000	0.20326	0.460000	0.39030	ATT		0.537	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1		NM_138367		64	66	0	0	0	0.01441	0	64	66		
FREM1	158326	broad.mit.edu	37	9	14740152	14740152	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:14740152C>G	ENST00000380880.3	-	36	7118	c.6335G>C	c.(6334-6336)tGg>tCg	p.W2112S	FREM1_ENST00000422223.2_Missense_Mutation_p.W2112S|FREM1_ENST00000380881.4_Missense_Mutation_p.W2113S|FREM1_ENST00000380894.1_Missense_Mutation_p.W648S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2112	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTGCCTATCCAAAAGGACTT	0.498																																						uc003zlm.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(6334-6336)TGG>TCG		FRAS1 related extracellular matrix 1 precursor							103.0	104.0	104.0					9																	14740152		2009	4174	6183	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14740152C>G	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.6335G>C	9.37:g.14740152C>G	ENSP00000370262:p.Trp2112Ser					FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.W648S	p.W2112S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	36	6925	-			2112			C-type lectin.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.6335G>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724758	0.89298	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.82	5.82	0.92795	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.056621	0.85682	D	0.000000	D	0.82747	0.5104	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87466	0.2411	10	0.87932	D	0	-0.9978	20.1143	0.97922	0.0:1.0:0.0:0.0	.	2112;648	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	S	2113;2112;648;2112	ENSP00000370263:W2113S;ENSP00000412940:W2112S;ENSP00000370278:W648S;ENSP00000370262:W2112S	ENSP00000370262:W2112S	W	-	2	0	FREM1	14730152	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.883000	0.75595	2.765000	0.95021	0.650000	0.86243	TGG		0.498	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2		NM_144966		31	170	0	0	0	0.006999	0	31	170		
VCP	7415	broad.mit.edu	37	9	35059694	35059694	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:35059694G>A	ENST00000358901.6	-	14	2695	c.1800C>T	c.(1798-1800)gtC>gtT	p.V600V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	600					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGGTTGATGACTCGGTCAG	0.512																																						uc003zvy.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1798-1800)GTC>GTT		valosin-containing protein							177.0	145.0	156.0					9																	35059694		2203	4300	6503	SO:0001819	synonymous_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35059694G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1800C>T	9.37:g.35059694G>A						VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Silent_p.V269V|VCP_uc010mki.1_Silent_p.V555V	p.V600V	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		14	2189	-			600					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	c.1800C>T	CCDS6573.1																																																																																				0.512	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1		NM_007126		111	102	0	0	0	0.01441	0	111	102		
DCAF10	79269	broad.mit.edu	37	9	37861326	37861326	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:37861326G>A	ENST00000377724.3	+	7	1866	c.1501G>A	c.(1501-1503)Gac>Aac	p.D501N	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Missense_Mutation_p.D464N|DCAF10_ENST00000483167.1_3'UTR	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	501					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GTTGGGATTTGACAAACAGTG	0.488																																						uc004aao.2		NaN																	0				central_nervous_system(1)	1						c.(1501-1503)GAC>AAC		WD repeat domain 32							126.0	112.0	116.0					9																	37861326		2203	4300	6503	SO:0001583	missense	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37861326G>A	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1501G>A	9.37:g.37861326G>A	ENSP00000366953:p.Asp501Asn					DCAF10_uc010mlz.2_Missense_Mutation_p.D328N|DCAF10_uc004aap.2_Missense_Mutation_p.D152N	p.D501N	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN			7	1575	+			501			WD 6.		A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	c.1501G>A	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722797	0.68959	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.76060	-0.77;-0.99	6.06	6.06	0.98353	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	N	0.17474	0.49	0.80722	D	1	D;B	0.67145	0.996;0.356	D;B	0.73708	0.981;0.207	T	0.78117	-0.2329	10	0.45353	T	0.12	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	464;501	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	N	501;464	ENSP00000366953:D501N;ENSP00000242323:D464N	ENSP00000242323:D464N	D	+	1	0	DCAF10	37851326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.413000	0.97351	2.882000	0.98803	0.655000	0.94253	GAC		0.488	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2		NM_024345		36	127	0	0	0	0.005524	0	36	127		
FAM122A	116224	broad.mit.edu	37	9	71395443	71395443	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:71395443C>T	ENST00000394264.3	+	1	480	c.363C>T	c.(361-363)ttC>ttT	p.F121F	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	121										endometrium(1)|lung(2)	3						AGGAAAGTTTCAGCCTGAGTG	0.557																																						uc004agw.1		NaN																	0					0						c.(361-363)TTC>TTT		hypothetical protein LOC116224							161.0	158.0	159.0					9																	71395443		2203	4300	6503	SO:0001819	synonymous_variant	116224							g.chr9:71395443C>T	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.363C>T	9.37:g.71395443C>T						PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron	p.F121F	NM_138333	NP_612206	Q96E09	F122A_HUMAN			1	480	+			121						Silent	SNP	ENST00000394264.3	37	c.363C>T	CCDS6623.1																																																																																				0.557	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1		NM_138333		108	173	0	0	0	0.01441	0	108	173		
APBA1	320	broad.mit.edu	37	9	72091005	72091005	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:72091005G>C	ENST00000265381.4	-	3	1477	c.1255C>G	c.(1255-1257)Ctt>Gtt	p.L419V	RP11-470P21.2_ENST00000429567.2_RNA	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	419	LIN-2/CASK binding.|Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.L419V(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTGGGGTGAAGAGATGTGCTT	0.498																																						uc004ahh.2		NaN																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1255-1257)CTT>GTT		amyloid beta A4 precursor protein-binding,							96.0	87.0	90.0					9																	72091005		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72091005G>C	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1255C>G	9.37:g.72091005G>C	ENSP00000265381:p.Leu419Val						p.L419V	NM_001163	NP_001154	Q02410	APBA1_HUMAN			3	1531	-			419			LIN-2/CASK binding.|Pro-rich.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1255C>G	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	8.362	0.833329	0.16820	.	.	ENSG00000107282	ENST00000265381	T	0.04119	3.7	5.63	5.63	0.86233	.	0.311919	0.31589	N	0.007398	T	0.04952	0.0133	L	0.29908	0.895	0.27663	N	0.947004	B	0.09022	0.002	B	0.14023	0.01	T	0.33752	-0.9856	10	0.21540	T	0.41	.	14.5162	0.67821	0.0:0.0:0.8534:0.1466	.	419	Q02410	APBA1_HUMAN	V	419	ENSP00000265381:L419V	ENSP00000265381:L419V	L	-	1	0	APBA1	71280825	1.000000	0.71417	0.998000	0.56505	0.609000	0.37215	2.680000	0.46918	2.657000	0.90304	0.561000	0.74099	CTT		0.498	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2		NM_001163		16	55	0	0	0	0.007413	0	16	55		
SPATA31D1	389763	broad.mit.edu	37	9	84609239	84609239	+	Missense_Mutation	SNP	C	C	T	rs115598379	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:84609239C>T	ENST00000344803.2	+	4	3901	c.3854C>T	c.(3853-3855)aCg>aTg	p.T1285M		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1285					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGTCAAGTTACGAATTTCCCA	0.562													A|||	8	0.00159744	0.0061	0.0	5008	,	,		18136	0.0		0.0	False		,,,				2504	0.0					uc004amn.2		NaN																	0					0						c.(3853-3855)ACG>ATG		hypothetical protein LOC389763		A	MET/THR	18,3926		0,18,1954	48.0	49.0	49.0		3854	-1.1	0.0	9	dbSNP_132	49	0,8300		0,0,4150	yes	missense	FAM75D1	NM_001001670.2	81	0,18,6104	TT,TC,CC		0.0,0.4564,0.147	probably-damaging	1285/1577	84609239	18,12226	1972	4150	6122	SO:0001583	missense	389763					integral to membrane		g.chr9:84609239C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3854C>T	9.37:g.84609239C>T	ENSP00000341988:p.Thr1285Met						p.T1285M	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3901	+			1285						Missense_Mutation	SNP	ENST00000344803.2	37	c.3854C>T	CCDS47986.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	13.61	2.287585	0.40494	0.004564	0.0	ENSG00000214929	ENST00000344803	T	0.05199	3.48	2.91	-1.1	0.09872	.	3.101220	0.01428	U	0.014631	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40850	-0.9541	10	0.66056	D	0.02	-0.7098	0.3022	0.00275	0.3511:0.2006:0.2527:0.1956	.	1285	Q6ZQQ2	F75D1_HUMAN	M	1285	ENSP00000341988:T1285M	ENSP00000341988:T1285M	T	+	2	0	FAM75D1	83799059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.015000	0.12634	-0.588000	0.05882	-0.976000	0.02587	ACG		0.562	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1		NM_001001670		13	22	0	0	0	0.00245	0	13	22		
SLC28A3	64078	broad.mit.edu	37	9	86917263	86917263	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:86917263G>A	ENST00000376238.4	-	5	425	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	SLC28A3_ENST00000537648.1_Missense_Mutation_p.H57Y|SLC28A3_ENST00000495823.1_5'Flank	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	126					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	AGGGCTCTGTGAAAGTTCAGC	0.483																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(376-378)CAC>TAC		concentrative Na+-nucleoside cotransporter							91.0	76.0	81.0					9																	86917263		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86917263G>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.376C>T	9.37:g.86917263G>A	ENSP00000365413:p.His126Tyr					SLC28A3_uc011lsy.1_Missense_Mutation_p.H57Y|SLC28A3_uc004anu.1_Missense_Mutation_p.H126Y|SLC28A3_uc010mqb.2_Missense_Mutation_p.H57Y	p.H126Y	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			5	501	-			126			Extracellular (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.376C>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273984	0.40194	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.79749	-1.3;-1.3	5.33	4.42	0.53409	.	0.653544	0.16735	N	0.201671	T	0.71854	0.3389	L	0.47716	1.5	0.21355	N	0.999719	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.55173	-0.8182	10	0.27082	T	0.32	-1.6856	8.45	0.32864	0.0804:0.0:0.7668:0.1528	.	57;126	B4E2S8;Q9HAS3	.;S28A3_HUMAN	Y	126;57	ENSP00000365413:H126Y;ENSP00000446438:H57Y	ENSP00000365413:H126Y	H	-	1	0	SLC28A3	86107083	0.977000	0.34250	0.909000	0.35828	0.983000	0.72400	2.662000	0.46766	2.775000	0.95449	0.655000	0.94253	CAC		0.483	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1		NM_022127		7	20	0	0	0	0.00308	0	7	20		
NXNL2	158046	broad.mit.edu	37	9	91150578	91150578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:91150578C>T	ENST00000375854.3	+	1	563	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	NXNL2_ENST00000487646.2_3'UTR|NXNL2_ENST00000375855.3_Nonsense_Mutation_p.Q77*	NM_001161625.1	NP_001155097.1	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	77	Thioredoxin.				photoreceptor cell maintenance (GO:0045494)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)					lung(3)	3						CGGCAGCTCCCAGGAGATGCT	0.706																																						uc011ltj.1		NaN																	0					0						c.(229-231)CAG>TAG		nucleoredoxin-like 2 isoform 1							20.0	26.0	24.0					9																	91150578		2157	4262	6419	SO:0001587	stop_gained	158046							g.chr9:91150578C>T	BC022521	CCDS6679.1, CCDS55325.1	9q22.2	2008-02-05	2007-08-16	2007-08-16	ENSG00000130045	ENSG00000130045			30482	protein-coding gene	gene with protein product		615299	"""chromosome 9 open reading frame 121"""	C9orf121		12477932	Standard	NM_001161625		Approved		uc011ltj.2	Q5VZ03	OTTHUMG00000020170	ENST00000375854.3:c.229C>T	9.37:g.91150578C>T	ENSP00000365014:p.Gln77*					NXNL2_uc004aqa.2_Nonsense_Mutation_p.Q77*	p.Q77*	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN			1	563	+			77			Thioredoxin.		B1AMD0|Q8TBG6	Nonsense_Mutation	SNP	ENST00000375854.3	37	c.229C>T	CCDS55325.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161634	0.94727	.	.	ENSG00000130045	ENST00000375854;ENST00000375855	.	.	.	3.95	-0.458	0.12182	.	0.573960	0.16363	N	0.217686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-3.3117	18.4417	0.90669	0.0:0.1585:0.8415:0.0	.	.	.	.	X	77	.	ENSP00000365014:Q77X	Q	+	1	0	NXNL2	90340398	1.000000	0.71417	0.029000	0.17559	0.172000	0.22775	3.398000	0.52579	-0.347000	0.08299	-0.479000	0.04858	CAG		0.706	NXNL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_145283		18	30	0	0	0	0.010504	0	18	30		
FAM120AOS	158293	broad.mit.edu	37	9	96212868	96212868	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:96212868C>A	ENST00000375412.5	-	2	1459	c.577G>T	c.(577-579)Gga>Tga	p.G193*	FAM120A_ENST00000277165.6_5'Flank|FAM120A_ENST00000375389.3_5'Flank|FAM120AOS_ENST00000423591.1_Nonsense_Mutation_p.G11*|FAM120AOS_ENST00000479094.1_5'UTR|FAM120A_ENST00000340893.4_5'Flank|FAM120A_ENST00000333936.5_5'Flank	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	193										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CATCCTGCTCCTCTACAGAGG	0.493																																						uc004atu.3		NaN																	0					0						c.(577-579)GGA>TGA		hypothetical protein LOC158293							38.0	43.0	42.0					9																	96212868		2203	4300	6503	SO:0001587	stop_gained	158293							g.chr9:96212868C>A	AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.577G>T	9.37:g.96212868C>A	ENSP00000364561:p.Gly193*					FAM120AOS_uc004atm.2_RNA|FAM120AOS_uc004atn.3_RNA|FAM120AOS_uc004ato.3_RNA|FAM120AOS_uc004atp.3_RNA|FAM120AOS_uc004atq.3_RNA|FAM120AOS_uc004atr.3_RNA|FAM120AOS_uc004ats.3_RNA|FAM120AOS_uc004att.3_RNA|FAM120A_uc004atv.2_5'Flank|FAM120A_uc004atw.2_5'Flank	p.G193*	NM_198841	NP_942138	Q5T036	F120S_HUMAN			2	1460	-			193					A6NN20	Nonsense_Mutation	SNP	ENST00000375412.5	37	c.577G>T	CCDS6705.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495395	0.64186	.	.	ENSG00000188938	ENST00000423591;ENST00000375412;ENST00000375409;ENST00000428378	.	.	.	1.93	0.0755	0.14399	.	.	.	.	.	.	.	.	.	.	.	0.53005	A	0.999965	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.3186	0.11005	0.0:0.6383:0.0:0.3617	.	.	.	.	X	11;193;10;10	.	ENSP00000364558:G10X	G	-	1	0	FAM120AOS	95252689	0.000000	0.05858	0.003000	0.11579	0.083000	0.17756	-0.261000	0.08694	0.015000	0.14971	-0.254000	0.11334	GGA		0.493	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1				8	27	1	0	0.000274275	0.004482	0.000279768	8	27		
C9orf3	84909	broad.mit.edu	37	9	97844896	97844896	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:97844896G>A	ENST00000375315.2	+	15	2359	c.2359G>A	c.(2359-2361)Gag>Aag	p.E787K	MIR27B_ENST00000385129.1_RNA|MIR23B_ENST00000384832.1_RNA|C9orf3_ENST00000433691.2_Missense_Mutation_p.E128K|C9orf3_ENST00000297979.5_Missense_Mutation_p.E688K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E149K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	787					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GATGGTGAGTGAGGACGCCAG	0.597																																						uc004ava.2		NaN																	0				ovary(1)	1						c.(2359-2361)GAG>AAG		aminopeptidase O							124.0	97.0	106.0					9																	97844896		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97844896G>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2359G>A	9.37:g.97844896G>A	ENSP00000364464:p.Glu787Lys					C9orf3_uc004auy.2_Missense_Mutation_p.E688K|C9orf3_uc004avc.2_Intron|C9orf3_uc011luj.1_Missense_Mutation_p.E149K|C9orf3_uc011luk.1_Missense_Mutation_p.E128K|C9orf3_uc004avd.2_Missense_Mutation_p.E149K|MIR23B_hsa-mir-23b|MI0000439_5'Flank|uc004avg.3_5'Flank|MIR27B_hsa-mir-27b|MI0000440_5'Flank	p.E787K	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	15	2494	+			787					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.2359G>A	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554297	0.96501	.	.	ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.33	5.33	0.75918	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.997	D;D;D;D	0.91635	0.974;0.999;0.995;0.963	T	0.56300	-0.8002	10	0.06494	T	0.89	-19.465	19.3858	0.94555	0.0:0.0:1.0:0.0	.	128;149;787;688	B4DU39;B4DQU3;Q8N6M6;Q8N6M6-2	.;.;AMPO_HUMAN;.	K	688;787;569;149;128;151	ENSP00000297979:E688K;ENSP00000364464:E787K;ENSP00000401854:E569K;ENSP00000411815:E149K;ENSP00000399365:E128K	ENSP00000297979:E688K	E	+	1	0	C9orf3	96884717	1.000000	0.71417	0.960000	0.40013	0.994000	0.84299	9.378000	0.97191	2.659000	0.90383	0.561000	0.74099	GAG		0.597	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032823		32	51	0	0	0	0.003755	0	32	51		
ERCC6L2	375748	broad.mit.edu	37	9	98660185	98660185	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:98660185G>C	ENST00000288985.7	+	3	864	c.559G>C	c.(559-561)Gaa>Caa	p.E187Q	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	187	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TGAGGATATTGAAAATAACAT	0.333																																						uc004avt.3		NaN																	0					0						c.(559-561)GAA>CAA		RAD26L hypothetical protein							99.0	109.0	106.0					9																	98660185		2203	4298	6501	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98660185G>C	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.559G>C	9.37:g.98660185G>C	ENSP00000288985:p.Glu187Gln					C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR	p.E187Q	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN			3	947	+		Acute lymphoblastic leukemia(62;0.0559)	187			Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.559G>C	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230806	0.39399	.	.	ENSG00000182150	ENST00000288985	D	0.93189	-3.18	4.72	4.72	0.59763	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000029	D	0.90490	0.7021	L	0.49126	1.545	0.80722	D	1	P	0.36633	0.562	B	0.31191	0.125	D	0.91023	0.4858	10	0.52906	T	0.07	-15.9415	17.8774	0.88829	0.0:0.0:1.0:0.0	.	187	Q5T890	RAD26_HUMAN	Q	187	ENSP00000288985:E187Q	ENSP00000288985:E187Q	E	+	1	0	C9orf102	97700006	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	6.040000	0.70980	2.459000	0.83118	0.561000	0.74099	GAA		0.333	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2		NM_001010895		20	65	0	0	0	0.00333	0	20	65		
NUTM2G	441457	broad.mit.edu	37	9	99691320	99691320	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:99691320G>C	ENST00000372322.3	+	1	35	c.14G>C	c.(13-15)gGa>gCa	p.G5A	NUTM2G_ENST00000354649.3_Missense_Mutation_p.G5A|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	5																	GCTTCAAATGGAGGTGAGCCT	0.537																																						uc004awq.1		NaN																	0				skin(1)	1						c.(13-15)GGA>GCA		hypothetical protein LOC441457							105.0	119.0	114.0					9																	99691320		1901	4119	6020	SO:0001583	missense	441457							g.chr9:99691320G>C		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.14G>C	9.37:g.99691320G>C	ENSP00000361397:p.Gly5Ala						p.G5A	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN			1	729	+		Acute lymphoblastic leukemia(62;0.0527)	5					A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.14G>C	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	g	11.26	1.586489	0.28268	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159	T;T	0.25579	1.79;2.58	1.33	0.371	0.16168	.	.	.	.	.	T	0.33498	0.0865	L	0.40543	1.245	0.09310	N	0.999996	D	0.76494	0.999	D	0.87578	0.998	T	0.13150	-1.0520	9	0.42905	T	0.14	.	3.4441	0.07474	0.2779:0.0:0.7221:0.0	.	5	Q5VZR2-2	.	A	5	ENSP00000346670:G5A;ENSP00000361397:G5A	ENSP00000346670:G5A	G	+	2	0	FAM22G	98731141	0.565000	0.26610	0.488000	0.27440	0.046000	0.14306	0.471000	0.22100	0.139000	0.18822	0.479000	0.44913	GGA		0.537	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2		NM_001170741		91	106	0	0	0	0.01441	0	91	106		
PLPPR1	54886	broad.mit.edu	37	9	104032211	104032211	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:104032211C>A	ENST00000374874.3	+	3	552	c.113C>A	c.(112-114)aCt>aAt	p.T38N	LPPR1_ENST00000395056.2_Missense_Mutation_p.T38N	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		38					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										TTCGAATGCACTGACACTTTT	0.502																																						uc004bbb.2		NaN																	0					0						c.(112-114)ACT>AAT		plasticity related gene 3							172.0	149.0	157.0					9																	104032211		2203	4300	6503	SO:0001583	missense	54886					integral to membrane	catalytic activity	g.chr9:104032211C>A																												ENST00000374874.3:c.113C>A	9.37:g.104032211C>A	ENSP00000364008:p.Thr38Asn					LPPR1_uc011lvi.1_Missense_Mutation_p.T14N|LPPR1_uc004bbc.2_Missense_Mutation_p.T38N|LPPR1_uc010mtc.2_Missense_Mutation_p.T22N	p.T38N	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN			3	512	+			38					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.113C>A	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897901	0.91962	.	.	ENSG00000148123	ENST00000374874;ENST00000456287;ENST00000374871;ENST00000395056	T;T;T	0.50001	0.76;0.76;0.76	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.986	T	0.75581	-0.3268	10	0.54805	T	0.06	-40.4088	18.8647	0.92287	0.0:1.0:0.0:0.0	.	22;38	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	N	38	ENSP00000364008:T38N;ENSP00000410223:T38N;ENSP00000378496:T38N	ENSP00000364005:T38N	T	+	2	0	RP11-35N6.1	103072032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.767000	0.95098	0.557000	0.71058	ACT		0.502	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1				18	70	1	0	5.03518e-11	0.007413	5.28731e-11	18	70		
ZNF462	58499	broad.mit.edu	37	9	109688717	109688717	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:109688717C>A	ENST00000277225.5	+	3	2813	c.2524C>A	c.(2524-2526)Ctt>Att	p.L842I	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.L842I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	842					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCTGGAAGGCTTTACTATTG	0.423																																						uc004bcz.2		NaN																	0				ovary(5)	5						c.(2524-2526)CTT>ATT		zinc finger protein 462							133.0	129.0	130.0					9																	109688717		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688717C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2524C>A	9.37:g.109688717C>A	ENSP00000277225:p.Leu842Ile					ZNF462_uc010mto.2_Missense_Mutation_p.L690I|ZNF462_uc004bda.2_Missense_Mutation_p.L690I	p.L842I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	2813	+			842					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2524C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652095	0.67472	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.07114	3.22;3.67	5.87	5.87	0.94306	.	0.193859	0.47455	D	0.000227	T	0.14313	0.0346	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.99;0.993	P;P	0.58660	0.843;0.757	T	0.02437	-1.1159	9	.	.	.	-12.5414	13.4213	0.60998	0.0:0.9287:0.0:0.0713	.	842;842	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	I	842	ENSP00000277225:L842I;ENSP00000414570:L842I	.	L	+	1	0	ZNF462	108728538	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.709000	0.68384	2.778000	0.95560	0.650000	0.86243	CTT		0.423	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2		NM_021224		71	109	1	0	1.39921e-30	0.01441	1.52079e-30	71	109		
PTPN3	5774	broad.mit.edu	37	9	112225592	112225592	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:112225592C>T	ENST00000374541.2	-	2	227	c.123G>A	c.(121-123)caG>caA	p.Q41Q	PTPN3_ENST00000262539.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	41	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTTTAAAGGTCTGTACCACGC	0.358																																						uc004bed.2		NaN																	0				ovary(3)	3						c.(121-123)CAG>CAA		protein tyrosine phosphatase, non-receptor type							121.0	123.0	122.0					9																	112225592		2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112225592C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.123G>A	9.37:g.112225592C>T						PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.Q41Q|PTPN3_uc011lwh.1_5'UTR|PTPN3_uc004bee.3_Silent_p.Q41Q	p.Q41Q	NM_002829	NP_002820	P26045	PTN3_HUMAN			2	235	-			41			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.123G>A	CCDS6776.1																																																																																				0.358	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4				25	43	0	0	0	0.005443	0	25	43		
TNFSF15	9966	broad.mit.edu	37	9	117568272	117568272	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:117568272C>T	ENST00000374045.4	-	1	134	c.21G>A	c.(19-21)ctG>ctA	p.L7L		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	7					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CCCCAAAGCTCAGTCCCAGAT	0.622																																						uc004bjh.2		NaN																	0					0						c.(19-21)CTG>CTA		tumor necrosis factor (ligand) superfamily,							61.0	56.0	57.0					9																	117568272		2203	4300	6503	SO:0001819	synonymous_variant	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117568272C>T	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.21G>A	9.37:g.117568272C>T							p.L7L	NM_005118	NP_005109	O95150	TNF15_HUMAN			1	137	-			7			Cytoplasmic (Potential).		Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Silent	SNP	ENST00000374045.4	37	c.21G>A	CCDS6809.1																																																																																				0.622	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2		NM_005118		43	87	0	0	0	0.01441	0	43	87		
RABEPK	10244	broad.mit.edu	37	9	127990287	127990287	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:127990287G>A	ENST00000373538.3	+	6	935	c.625G>A	c.(625-627)Gga>Aga	p.G209R	RABEPK_ENST00000394125.4_Missense_Mutation_p.G209R|RABEPK_ENST00000259460.8_Missense_Mutation_p.G158R|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	209					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTTCATCCACGGAGGCTTGGC	0.488																																						uc004bpi.2		NaN																	0				ovary(1)	1						c.(625-627)GGA>AGA		Rab9 effector protein with kelch motifs							64.0	62.0	63.0					9																	127990287		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127990287G>A	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.625G>A	9.37:g.127990287G>A	ENSP00000362639:p.Gly209Arg					RABEPK_uc004bpj.2_Missense_Mutation_p.G158R|RABEPK_uc004bpk.2_Missense_Mutation_p.G209R|RABEPK_uc004bpl.1_Missense_Mutation_p.G158R|RABEPK_uc004bpm.2_Missense_Mutation_p.G209R	p.G209R	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN			7	798	+			209			Kelch 4.		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.625G>A	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990755	0.93106	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	D;D;D	0.95307	-3.67;-3.67;-3.67	5.14	5.14	0.70334	Kelch-type beta propeller (1);	0.097389	0.64402	D	0.000001	D	0.98454	0.9485	H	0.97806	4.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.99497	1.0952	10	0.87932	D	0	-12.1684	17.9569	0.89072	0.0:0.0:1.0:0.0	.	209;158;209	A8K403;Q7Z6M1-2;Q7Z6M1	.;.;RABEK_HUMAN	R	209;158;209	ENSP00000377683:G209R;ENSP00000259460:G158R;ENSP00000362639:G209R	ENSP00000259460:G158R	G	+	1	0	RABEPK	127030108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.880000	0.92407	2.720000	0.93068	0.644000	0.83932	GGA		0.488	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1		NM_005833		7	50	0	0	0	0.001984	0	7	50		
GAPVD1	26130	broad.mit.edu	37	9	128074826	128074826	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:128074826G>C	ENST00000495955.1	+	9	1827	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	GAPVD1_ENST00000394083.2_Missense_Mutation_p.E513Q|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E513Q|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E513Q|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E513Q|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E513Q|GAPVD1_ENST00000470056.1_Missense_Mutation_p.E513Q|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E513Q			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	513					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCAACCAGAAGAGGTGTTGGT	0.433																																						uc010mwx.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1537-1539)GAG>CAG		GTPase activating protein and VPS9 domains 1							164.0	135.0	145.0					9																	128074826		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128074826G>C		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1537G>C	9.37:g.128074826G>C	ENSP00000419063:p.Glu513Gln					GAPVD1_uc011lzs.1_Missense_Mutation_p.E513Q|GAPVD1_uc004bpp.2_Missense_Mutation_p.E513Q|GAPVD1_uc004bpq.2_Missense_Mutation_p.E513Q|GAPVD1_uc004bpr.2_Missense_Mutation_p.E513Q|GAPVD1_uc004bps.2_Missense_Mutation_p.E513Q|GAPVD1_uc010mwy.1_Missense_Mutation_p.E372Q	p.E513Q	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			9	1863	+			513					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.1537G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	25.0|25.0|25.0	4.588785|4.588785|4.588785	0.86851|0.86851|0.86851	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000431329|ENST00000436712	T;T;T;T;T;T;T;T;T|.|.	0.14391|.|.	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51|.|.	5.8|5.8|5.8	5.8|5.8|5.8	0.92144|0.92144|0.92144	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.57651|0.57651|0.57651	0.2068|0.2068|0.2068	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D|.|.	0.67145|.|.	0.989;0.981;0.989;0.989;0.989;0.996|.|.	D;D;D;D;D;D|.|.	0.75484|.|.	0.979;0.954;0.969;0.969;0.969;0.986|.|.	T|T|T	0.50440|0.50440|0.50440	-0.8828|-0.8828|-0.8828	10|5|5	0.35671|.|.	T|.|.	0.21|.|.	.|.|.	19.0375|19.0375|19.0375	0.92985|0.92985|0.92985	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	513;513;513;513;513;513|.|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.|.	.;GAPD1_HUMAN;.;.;.;.|.|.	Q|N|T	513|375|370	ENSP00000419767:E513Q;ENSP00000377665:E513Q;ENSP00000377664:E513Q;ENSP00000265956:E513Q;ENSP00000377645:E513Q;ENSP00000419063:E513Q;ENSP00000418747:E513Q;ENSP00000297933:E513Q;ENSP00000309582:E513Q|.|.	ENSP00000265956:E513Q|.|.	E|K|R	+|+|+	1|3|2	0|2|0	GAPVD1|GAPVD1|GAPVD1	127114647|127114647|127114647	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	9.238000|9.238000|9.238000	0.95380|0.95380|0.95380	2.745000|2.745000|2.745000	0.94114|0.94114|0.94114	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	GAG|AAG|AGA		0.433	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1				35	55	0	0	0	0.01441	0	35	55		
GARNL3	84253	broad.mit.edu	37	9	130119513	130119513	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:130119513G>T	ENST00000373387.4	+	21	2303	c.1951G>T	c.(1951-1953)Gac>Tac	p.D651Y	GARNL3_ENST00000314904.5_Missense_Mutation_p.D651Y|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.D629Y	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	651	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CTGTCTGTCTGACTCTCCCAT	0.522																																						uc011mae.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1951-1953)GAC>TAC		GTPase activating Rap/RanGAP domain-like 3							148.0	124.0	132.0					9																	130119513		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130119513G>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1951G>T	9.37:g.130119513G>T	ENSP00000362485:p.Asp651Tyr					GARNL3_uc011mad.1_Missense_Mutation_p.D629Y|GARNL3_uc010mxi.2_5'UTR	p.D651Y	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			21	2352	+			651			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1951G>T	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915057	0.52546	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	T;T;T	0.04970	3.52;3.52;3.52	5.34	5.34	0.76211	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.23054	0.0557	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.00151	-1.1985	9	.	.	.	.	17.6083	0.88045	0.0:0.0:1.0:0.0	.	651;629	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	Y	629;651;651	ENSP00000396205:D629Y;ENSP00000313970:D651Y;ENSP00000362485:D651Y	.	D	+	1	0	GARNL3	129159334	1.000000	0.71417	0.932000	0.37286	0.085000	0.17905	9.420000	0.97426	2.513000	0.84729	0.655000	0.94253	GAC		0.522	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3		NM_032293		12	101	1	0	3.27435e-08	0.00245	3.39827e-08	12	101		
NUP214	8021	broad.mit.edu	37	9	134026030	134026030	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:134026030G>A	ENST00000359428.5	+	16	2299	c.2155G>A	c.(2155-2157)Gag>Aag	p.E719K	NUP214_ENST00000411637.2_Missense_Mutation_p.E709K|NUP214_ENST00000451030.1_Missense_Mutation_p.E720K|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	719	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGAGTTGGAAGAGTTAAAAGC	0.438			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NaN		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		0				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(2155-2157)GAG>AAG		nucleoporin 214kDa							105.0	108.0	107.0					9																	134026030		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134026030G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2155G>A	9.37:g.134026030G>A	ENSP00000352400:p.Glu719Lys					NUP214_uc004cah.2_Missense_Mutation_p.E709K|NUP214_uc004cai.2_Missense_Mutation_p.E149K|NUP214_uc004caf.1_Missense_Mutation_p.E708K|NUP214_uc010mzf.2_Missense_Mutation_p.E17K	p.E719K	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	16	2266	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	719			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2155G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098162	0.94197	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.33438	1.41;1.44;1.43	5.84	5.84	0.93424	.	0.000000	0.44688	D	0.000425	T	0.37046	0.0989	N	0.08118	0	0.58432	D	0.999996	P;D;P;D	0.69078	0.724;0.997;0.799;0.993	P;D;B;P	0.66196	0.478;0.942;0.298;0.879	T	0.46428	-0.9192	10	0.66056	D	0.02	-29.5187	19.1261	0.93384	0.0:0.0:1.0:0.0	.	708;313;709;719	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	K	719;709;720;708;313;148	ENSP00000352400:E719K;ENSP00000396576:E709K;ENSP00000405014:E720K	ENSP00000352400:E719K	E	+	1	0	NUP214	133015851	1.000000	0.71417	0.757000	0.31301	0.985000	0.73830	9.098000	0.94202	2.779000	0.95612	0.655000	0.94253	GAG		0.438	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2		NM_005085		15	79	0	0	0	0.004007	0	15	79		
NUP214	8021	broad.mit.edu	37	9	134026095	134026095	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:134026095G>A	ENST00000359428.5	+	16	2364	c.2220G>A	c.(2218-2220)ctG>ctA	p.L740L	NUP214_ENST00000411637.2_Silent_p.L730L|NUP214_ENST00000451030.1_Silent_p.L741L|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	740	11 X 5 AA approximate repeats.|Leucine-zipper 1.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGAAGATGCTGCGAACAGAAT	0.408			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NaN		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		0				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(2218-2220)CTG>CTA		nucleoporin 214kDa							149.0	150.0	150.0					9																	134026095		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134026095G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2220G>A	9.37:g.134026095G>A						NUP214_uc004cah.2_Silent_p.L730L|NUP214_uc004cai.2_Silent_p.L170L|NUP214_uc004caf.1_Silent_p.L729L|NUP214_uc010mzf.2_Silent_p.L38L	p.L740L	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	16	2331	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	740			Leucine-zipper 1.|11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.2220G>A	CCDS6940.1																																																																																				0.408	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2		NM_005085		28	100	0	0	0	0.009535	0	28	100		
SETX	23064	broad.mit.edu	37	9	135139634	135139634	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:135139634G>A	ENST00000224140.5	-	26	8208	c.8026C>T	c.(8026-8028)Ctt>Ttt	p.L2676F	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Missense_Mutation_p.L2643F|SETX_ENST00000372169.2_Missense_Mutation_p.L2705F	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2676	Necessary for nuclear localization.				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)		TCCTATAAAAGCTTTCTTTTC	0.493																																						uc004cbk.2		NaN																	0				ovary(2)|skin(1)	3						c.(8026-8028)CTT>TTT		senataxin							103.0	110.0	107.0					9																	135139634		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135139634G>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.8026C>T	9.37:g.135139634G>A	ENSP00000224140:p.Leu2676Phe					SETX_uc004cbj.2_Missense_Mutation_p.L2324F|SETX_uc010mzt.2_Missense_Mutation_p.L2262F	p.L2676F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	26	8209	-		Myeloproliferative disorder(178;0.204)	2676			Necessary for nuclear localization.		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.8026C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626450	0.28978	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.93547	-2.46;-3.24;-2.74;-2.34	5.57	-4.18	0.03846	.	.	.	.	.	T	0.82075	0.4958	N	0.19112	0.55	0.09310	N	1	B;B;B	0.17667	0.023;0.007;0.023	B;B;B	0.14578	0.011;0.005;0.011	T	0.67937	-0.5541	9	0.25751	T	0.34	.	1.1027	0.01687	0.2729:0.2853:0.2796:0.1622	.	2643;2676;2705	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	F	2676;947;2705;2643	ENSP00000224140:L2676F;ENSP00000409143:L947F;ENSP00000361242:L2705F;ENSP00000376913:L2643F	ENSP00000224140:L2676F	L	-	1	0	SETX	134129455	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.006000	0.13152	-0.822000	0.04306	0.491000	0.48974	CTT		0.493	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3		NM_015046		67	95	0	0	0	0.01441	0	67	95		
VAV2	7410	broad.mit.edu	37	9	136804268	136804268	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:136804268A>G	ENST00000371850.3	-	2	309	c.278T>C	c.(277-279)cTg>cCg	p.L93P	VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371851.1_Missense_Mutation_p.L93P|VAV2_ENST00000406606.3_Missense_Mutation_p.L93P	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	93	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGGGTCAAACAGCTCGCTGTT	0.502																																						uc004ces.2		NaN																	0				central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(277-279)CTG>CCG		vav 2 guanine nucleotide exchange factor isoform							161.0	139.0	147.0					9																	136804268		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136804268A>G		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.278T>C	9.37:g.136804268A>G	ENSP00000360916:p.Leu93Pro					VAV2_uc004cer.2_Missense_Mutation_p.L93P	p.L93P	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	2	324	-			93			CH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.278T>C	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846601	0.71603	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.46063	0.88;0.88;0.88	4.6	4.6	0.57074	Calponin homology domain (5);	0.304183	0.22862	N	0.054734	T	0.70482	0.3229	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77819	-0.2446	10	0.87932	D	0	.	13.1697	0.59591	1.0:0.0:0.0:0.0	.	93;93	P52735;P52735-3	VAV2_HUMAN;.	P	93	ENSP00000360916:L93P;ENSP00000360917:L93P;ENSP00000385362:L93P	ENSP00000317258:L93P	L	-	2	0	VAV2	135794089	1.000000	0.71417	0.995000	0.50966	0.761000	0.43186	9.034000	0.93747	1.719000	0.51432	0.482000	0.46254	CTG		0.502	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1				40	57	0	0	0	0.006999	0	40	57		
PPP1R26	9858	broad.mit.edu	37	9	138376899	138376899	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:138376899C>T	ENST00000356818.2	+	4	1092	c.543C>T	c.(541-543)gcC>gcT	p.A181A	PPP1R26_ENST00000401470.3_Silent_p.A181A|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.A181A|PPP1R26_ENST00000604351.1_Silent_p.A181A|PPP1R26_ENST00000605286.1_Silent_p.A181A	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	181					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										ACGGCAGTGCCCCGACTGCCC	0.706																																						uc004cfr.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(541-543)GCC>GCT		1A6/DRIM (down-regulated in metastasis)							20.0	26.0	24.0					9																	138376899		2198	4295	6493	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138376899C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.543C>T	9.37:g.138376899C>T							p.A181A	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	1092	+			181					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.543C>T	CCDS6988.1																																																																																				0.706	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1		NM_014811		13	48	0	0	0	0.00245	0	13	48		
CAMSAP1	157922	broad.mit.edu	37	9	138713796	138713796	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:138713796G>A	ENST00000389532.4	-	11	2775	c.2711C>T	c.(2710-2712)gCa>gTa	p.A904V	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A915V|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A626V	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	904	Sufficient for interaction with calmodulin.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCGCTGCCTTGCCGACAGCGC	0.632																																						uc004cgr.3		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2710-2712)GCA>GTA		calmodulin regulated spectrin-associated protein							58.0	66.0	63.0					9																	138713796		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138713796G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2711C>T	9.37:g.138713796G>A	ENSP00000374183:p.Ala904Val					CAMSAP1_uc004cgq.3_Missense_Mutation_p.A794V|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A626V	p.A904V	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	2711	-			904					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.2711C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179308	0.78564	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.68903	-0.36;-0.36;-0.36	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	M	0.83012	2.62	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.989;0.99	D	0.86150	0.1587	10	0.87932	D	0	-3.2017	18.9181	0.92515	0.0:0.0:1.0:0.0	.	904;915	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	V	904;626;915	ENSP00000374183:A904V;ENSP00000312463:A626V;ENSP00000386420:A915V	ENSP00000312463:A626V	A	-	2	0	CAMSAP1	137853617	1.000000	0.71417	0.124000	0.21820	0.299000	0.27559	9.665000	0.98609	2.554000	0.86153	0.655000	0.94253	GCA		0.632	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2		XM_351857		41	76	0	0	0	0.01441	0	41	76		
MAN1B1	11253	broad.mit.edu	37	9	139981500	139981500	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:139981500T>A	ENST00000371589.4	+	1	122	c.49T>A	c.(49-51)Tcg>Acg	p.S17T	MAN1B1_ENST00000474902.1_5'Flank|AL807752.1_ENST00000596585.1_5'Flank	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	17					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TTCCTCTCAGTCGGACTTCCT	0.692																																						uc004cld.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(49-51)TCG>ACG		alpha 1,2-mannosidase							18.0	24.0	22.0					9																	139981500		2194	4281	6475	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139981500T>A	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.49T>A	9.37:g.139981500T>A	ENSP00000360645:p.Ser17Thr					MAN1B1_uc004clc.2_5'UTR|MAN1B1_uc011meo.1_5'UTR|MAN1B1_uc011mep.1_Missense_Mutation_p.S17T|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank	p.S17T	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	1	84	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	17			Cytoplasmic (Potential).		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.49T>A	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217047	0.39201	.	.	ENSG00000177239	ENST00000371589	T	0.22743	1.94	3.33	-2.43	0.06522	.	.	.	.	.	T	0.08537	0.0212	N	0.08118	0	0.26429	N	0.975972	B	0.19073	0.033	B	0.13407	0.009	T	0.34054	-0.9844	9	0.28530	T	0.3	.	5.6595	0.17660	0.0:0.6255:0.1559:0.2186	.	17	Q9UKM7	MA1B1_HUMAN	T	17	ENSP00000360645:S17T	ENSP00000360645:S17T	S	+	1	0	MAN1B1	139101321	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.255000	0.08769	-0.578000	0.05959	-0.464000	0.05259	TCG		0.692	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2		NM_016219		8	5	0	0	0	0.013537	0	8	5		
CACNA1B	774	broad.mit.edu	37	9	140878605	140878605	+	Missense_Mutation	SNP	G	G	A	rs199883860		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr9:140878605G>A	ENST00000371372.1	+	13	1817	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	CACNA1B_ENST00000371355.4_Missense_Mutation_p.V559I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V559I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V558I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V558I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	558					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTGGGGAGCGTCTTTGAAGT	0.592																																						uc004cog.2		NaN																	0				breast(3)|large_intestine(2)|ovary(1)	6						c.(1672-1674)GTC>ATC		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						75.0	93.0	87.0					9																	140878605		2127	4213	6340	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140878605G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1672G>A	9.37:g.140878605G>A	ENSP00000360423:p.Val558Ile					CACNA1B_uc011mfd.1_Missense_Mutation_p.V89I	p.V558I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	13	1817	+	all_cancers(76;0.166)		558			Helical; Name=S3 of repeat II; (Potential).|II.		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1672G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	g	0.859	-0.735788	0.03111	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82;-4.82	4.68	3.55	0.40652	.	0.204155	0.51477	N	0.000100	D	0.88437	0.6436	N	0.00677	-1.265	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	D	0.83841	0.0257	10	0.02654	T	1	.	9.7393	0.40409	0.9157:0.0:0.0843:0.0	.	558;558	B1AQK4;B1AQK6	.;.	I	558;558;558;559;559	ENSP00000360423:V558I;ENSP00000277551:V558I;ENSP00000360414:V558I;ENSP00000360408:V559I;ENSP00000360406:V559I	ENSP00000277551:V558I	V	+	1	0	CACNA1B	139998426	1.000000	0.71417	0.999000	0.59377	0.281000	0.26958	7.238000	0.78173	0.759000	0.33084	-0.387000	0.06579	GTC		0.592	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1		NM_000718		4	8	0	0	0	0.000602	0	4	8		
PRRG1	5638	broad.mit.edu	37	X	37312442	37312442	+	Silent	SNP	A	A	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:37312442A>T	ENST00000542554.1	+	5	497	c.225A>T	c.(223-225)ggA>ggT	p.G75G	PRRG1_ENST00000378628.4_Silent_p.G75G|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Silent_p.G75G|PRRG1_ENST00000543642.1_Silent_p.G75G	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	75						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GTAACCGAGGAAGTGACTGGT	0.373																																						uc004ddn.2		NaN																	0				ovary(1)|breast(1)	2						c.(223-225)GGA>GGT		proline rich Gla (G-carboxyglutamic acid) 1							159.0	109.0	126.0					X																	37312442		2202	4300	6502	SO:0001819	synonymous_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312442A>T	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.225A>T	X.37:g.37312442A>T						PRRG1_uc004ddo.2_Silent_p.G75G	p.G75G	NM_000950	NP_000941	O14668	TMG1_HUMAN			5	478	+			75			Extracellular (Potential).		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Silent	SNP	ENST00000542554.1	37	c.225A>T	CCDS14239.1																																																																																				0.373	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2		NM_000950		27	9	0	0	0	0.009535	0	27	9		
CACNA1F	778	broad.mit.edu	37	X	49079027	49079027	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:49079027C>T	ENST00000376265.2	-	17	2336	c.2275G>A	c.(2275-2277)Gac>Aac	p.D759N	CACNA1F_ENST00000323022.5_Missense_Mutation_p.D748N|CACNA1F_ENST00000376251.1_Missense_Mutation_p.D694N|CACNA1F_ENST00000480889.1_5'UTR	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	759					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCAGGTTGTCCACAGCAATG	0.562																																						uc004dnb.2		NaN																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(2275-2277)GAC>AAC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						138.0	82.0	101.0					X																	49079027		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49079027C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2275G>A	X.37:g.49079027C>T	ENSP00000365441:p.Asp759Asn					CACNA1F_uc010nip.2_Missense_Mutation_p.D748N	p.D759N	NM_005183	NP_005174	O60840	CAC1F_HUMAN			17	2337	-			759			II.|Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.2275G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.100361	0.76983	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97303	-4.33;-4.33;-4.33	4.38	4.38	0.52667	.	0.051181	0.85682	D	0.000000	D	0.98273	0.9428	M	0.80616	2.505	0.43662	D	0.99608	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.99497	1.0952	10	0.87932	D	0	.	15.0989	0.72256	0.0:1.0:0.0:0.0	.	748;759	F5CIQ9;O60840	.;CAC1F_HUMAN	N	694;748;759	ENSP00000365427:D694N;ENSP00000321618:D748N;ENSP00000365441:D759N	ENSP00000321618:D748N	D	-	1	0	CACNA1F	48965971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.672000	0.83956	1.796000	0.52611	0.411000	0.27672	GAC		0.562	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1		NM_005183		25	18	0	0	0	0.010818	0	25	18		
HDAC8	55869	broad.mit.edu	37	X	71792545	71792545	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:71792545C>T	ENST00000373573.3	-	1	408	c.67G>A	c.(67-69)Gag>Aag	p.E23K	HDAC8_ENST00000373571.1_Missense_Mutation_p.E23K|HDAC8_ENST00000373559.4_Missense_Mutation_p.E23K|HDAC8_ENST00000373556.3_Missense_Mutation_p.E23K|HDAC8_ENST00000373589.4_Missense_Mutation_p.E23K|HDAC8_ENST00000373554.1_Missense_Mutation_p.E23K|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000439122.2_Missense_Mutation_p.E23K|HDAC8_ENST00000373560.2_Missense_Mutation_p.E23K|HDAC8_ENST00000373561.4_Missense_Mutation_p.E23K|HDAC8_ENST00000373583.1_Missense_Mutation_p.E23K	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	23	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CTGACATACTCGGGACTATAG	0.592																																						uc004eau.2		NaN																	0					0						c.(67-69)GAG>AAG		histone deacetylase 8	Vorinostat(DB02546)						86.0	79.0	81.0					X																	71792545		2203	4300	6503	SO:0001583	missense	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71792545C>T	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.67G>A	X.37:g.71792545C>T	ENSP00000362674:p.Glu23Lys					HDAC8_uc011mqf.1_5'UTR|HDAC8_uc011mqg.1_Missense_Mutation_p.E23K|HDAC8_uc011mqh.1_Missense_Mutation_p.E23K|HDAC8_uc010nlk.1_5'UTR|HDAC8_uc004eav.2_Missense_Mutation_p.E23K|HDAC8_uc004eaw.2_RNA	p.E23K	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN			1	109	-	Renal(35;0.156)		23			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.67G>A	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309449	0.40895	.	.	ENSG00000147099	ENST00000373573;ENST00000373583;ENST00000373589;ENST00000373568;ENST00000415409;ENST00000373571;ENST00000439122;ENST00000373560;ENST00000373559;ENST00000373561;ENST00000373556;ENST00000373554	T;T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.77	3.88	0.44766	Histone deacetylase domain (1);	0.106321	0.64402	D	0.000006	T	0.80555	0.4645	L	0.48260	1.515	0.50813	D	0.999897	B;D;B;B	0.67145	0.203;0.996;0.321;0.268	B;D;B;B	0.71656	0.04;0.974;0.012;0.026	T	0.81680	-0.0823	10	0.87932	D	0	-11.846	12.1944	0.54288	0.0:0.8297:0.1703:0.0	.	23;23;23;23	B4DH31;B4DKN0;B4DV22;Q9BY41	.;.;.;HDAC8_HUMAN	K	23	ENSP00000362674:E23K;ENSP00000362691:E23K;ENSP00000362669:E23K;ENSP00000396424:E23K;ENSP00000362672:E23K;ENSP00000414486:E23K;ENSP00000362661:E23K;ENSP00000362660:E23K;ENSP00000362662:E23K;ENSP00000362657:E23K;ENSP00000362655:E23K	ENSP00000362655:E23K	E	-	1	0	HDAC8	71709270	1.000000	0.71417	0.992000	0.48379	0.759000	0.43091	4.271000	0.58902	1.064000	0.40671	0.436000	0.28706	GAG		0.592	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2		NM_018486		68	42	0	0	0	0.01441	0	68	42		
PCDH19	57526	broad.mit.edu	37	X	99661763	99661763	+	Silent	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:99661763G>A	ENST00000373034.4	-	1	3508	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	PCDH19_ENST00000420881.2_Silent_p.D611D|PCDH19_ENST00000255531.7_Silent_p.D611D	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	611	Cadherin 6. {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(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGAAGCCGCGGTCGCCCTCGG	0.567																																						uc010nmz.2		NaN																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1831-1833)GAC>GAT		protocadherin 19 isoform b							62.0	62.0	62.0					X																	99661763		2046	4156	6202	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661763G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1833C>T	X.37:g.99661763G>A						PCDH19_uc004efw.3_Silent_p.D611D|PCDH19_uc004efx.3_Silent_p.D611D	p.D611D	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3509	-			611			Cadherin 6.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.1833C>T	CCDS55462.1																																																																																				0.567	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2		NM_020766		8	58	0	0	0	0.004482	0	8	58		
AMOT	154796	broad.mit.edu	37	X	112033995	112033995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:112033995G>A	ENST00000524145.1	-	8	2016	c.1942C>T	c.(1942-1944)Cag>Tag	p.Q648*	AMOT_ENST00000371958.1_Nonsense_Mutation_p.Q416*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.Q416*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.Q239*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.Q648*			Q4VCS5	AMOT_HUMAN	angiomotin	648					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q239*(1)|p.Q648*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTGGTGGGCTGACAGTTGCCC	0.512																																						uc004epr.2		NaN																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1942-1944)CAG>TAG		angiomotin isoform 1							107.0	93.0	98.0					X																	112033995		2203	4300	6503	SO:0001587	stop_gained	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112033995G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1942C>T	X.37:g.112033995G>A	ENSP00000429013:p.Gln648*					AMOT_uc004eps.2_Nonsense_Mutation_p.Q239*	p.Q648*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			7	1942	-			648			Potential.		Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	ENST00000524145.1	37	c.1942C>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	G	36	5.661337	0.96734	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	6.08	6.08	0.98989	.	0.105286	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-14.6972	18.3623	0.90379	0.0:0.0:1.0:0.0	.	.	.	.	X	239;648;416;648;416	.	ENSP00000305557:Q239X	Q	-	1	0	AMOT	111920651	1.000000	0.71417	0.974000	0.42286	0.058000	0.15608	9.845000	0.99498	2.562000	0.86427	0.600000	0.82982	CAG		0.512	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1		NM_133265		39	29	0	0	0	0.010771	0	39	29		
DDX26B	203522	broad.mit.edu	37	X	134709105	134709105	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:134709105C>T	ENST00000370752.4	+	13	2061	c.1727C>T	c.(1726-1728)cCc>cTc	p.P576L	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	576										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGACCAACCCAAAAGACTG	0.403																																						uc004eyw.3		NaN																	0					0						c.(1726-1728)CCC>CTC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							172.0	155.0	161.0					X																	134709105		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134709105C>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1727C>T	X.37:g.134709105C>T	ENSP00000359788:p.Pro576Leu					DDX26B_uc004eyx.3_Missense_Mutation_p.P177L	p.P576L	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			13	2090	+	Acute lymphoblastic leukemia(192;6.56e-05)		576					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.1727C>T	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137821	0.94517	.	.	ENSG00000165359	ENST00000370752	T	0.60171	0.21	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.81996	-0.0676	10	0.87932	D	0	-5.2717	17.9104	0.88932	0.0:1.0:0.0:0.0	.	576;576	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	L	576	ENSP00000359788:P576L	ENSP00000359788:P576L	P	+	2	0	DDX26B	134536771	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.782000	0.85680	2.449000	0.82847	0.594000	0.82650	CCC		0.403	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1		NM_182540		59	29	0	0	0	0.01441	0	59	29		
CNGA2	1260	broad.mit.edu	37	X	150911821	150911821	+	Silent	SNP	C	C	T			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:150911821C>T	ENST00000329903.4	+	6	879	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	282					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTACATCTTGGTCATCA	0.507																																						uc004fey.1		NaN																	0				breast(3)	3						c.(844-846)ATC>ATT		cyclic nucleotide gated channel alpha 2							185.0	152.0	163.0					X																	150911821		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911821C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.846C>T	X.37:g.150911821C>T							p.I282I	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1070	+	Acute lymphoblastic leukemia(192;6.56e-05)		282			Helical; Name=H4; (Potential).		A0AVD0	Silent	SNP	ENST00000329903.4	37	c.846C>T	CCDS14701.1																																																																																				0.507	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1		NM_005140		90	48	0	0	0	0.01441	0	90	48		
PDZD4	57595	broad.mit.edu	37	X	153069709	153069709	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chrX:153069709G>A	ENST00000164640.4	-	8	1600	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	PDZD4_ENST00000393758.2_Missense_Mutation_p.A395V|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.A361V	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	470						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGTTGTAGGCGCTGGTGCT	0.672																																						uc004fiz.1		NaN																	0				breast(1)	1						c.(1408-1410)GCC>GTC		PDZ domain containing 4							16.0	18.0	17.0					X																	153069709		2196	4283	6479	SO:0001583	missense	57595					cell cortex		g.chrX:153069709G>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1409C>T	X.37:g.153069709G>A	ENSP00000164640:p.Ala470Val					PDZD4_uc004fiy.1_Missense_Mutation_p.A395V|PDZD4_uc004fix.2_Missense_Mutation_p.A374V|PDZD4_uc004fja.1_Missense_Mutation_p.A476V|PDZD4_uc011mze.1_Missense_Mutation_p.A361V	p.A470V	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			8	1659	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		470					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1409C>T	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668979	0.88348	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.19250	2.16;2.19;2.42	5.15	5.15	0.70609	.	0.051988	0.85682	D	0.000000	T	0.47266	0.1436	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.997;0.997;0.999	T	0.50398	-0.8833	10	0.87932	D	0	-33.1282	16.4496	0.83976	0.0:0.0:1.0:0.0	.	361;476;470;395;374	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	V	470;395;374;361	ENSP00000164640:A470V;ENSP00000377355:A395V;ENSP00000442033:A361V	ENSP00000164640:A470V	A	-	2	0	PDZD4	152722903	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.843000	0.99491	2.139000	0.66308	0.436000	0.28706	GCC		0.672	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3		NM_032512		23	11	0	0	0	0.00333	0	23	11		
RRAGC	64121	broad.mit.edu	37	1	39325198	39325200	+	In_Frame_Del	DEL	CCG	CCG	-	rs113599946		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:39325198_39325200delCCG	ENST00000373001.3	-	1	295_297	c.119_121delCGG	c.(118-123)gcgggc>ggc	p.A40del	RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				acccctccgcccgccgccgccgc	0.714																																						uc001ccq.2		NaN																	0				ovary(1)	1						c.(118-123)GCGGGC>GGC		Ras-related GTP binding C				6,1724		1,4,860						2.0	0.6			2	44,4064		15,14,2025	no	coding	RRAGC	NM_022157.2		16,18,2885	A1A1,A1R,RR		1.0711,0.3468,0.8565				50,5788				SO:0001651	inframe_deletion	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39325198_39325200delCCG	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.119_121delCGG	1.37:g.39325207_39325209delCCG	ENSP00000362092:p.Ala40del					RRAGC_uc010oim.1_In_Frame_Del_p.A40del|RRAGC_uc001ccr.2_Intron	p.A40del	NM_022157	NP_071440	Q9HB90	RRAGC_HUMAN			1	141_143	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	40						In_Frame_Del	DEL	ENST00000373001.3	37	c.119_121delCGG	CCDS430.1																																																																																				0.714	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2		NM_022157		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						uc001gbv.2		NaN																	0				lung(2)|upper_aerodigestive_tract(1)	3						c.(901-903)CAGdel		nitric oxide synthase 1 (neuronal) adaptor																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del	p.Q306del	NM_014697	NP_055512	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1288_1290	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2		NM_014697		8	273	NaN	NaN	NaN	NaN	NaN	8	273	---	---
SYNPO2L	79933	broad.mit.edu	37	10	75406489	75406493	+	Frame_Shift_Del	DEL	GCCCC	GCCCC	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr10:75406489_75406493delGCCCC	ENST00000394810.2	-	4	3066_3070	c.2917_2921delGGGGC	c.(2917-2922)ggggcafs	p.GA973fs	SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.GA749fs	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	973						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CTGGTGCCCTGCCCCAGGCCTCCAC	0.595																																						uc001jut.3		NaN																	0				ovary(1)	1						c.(2917-2922)GGGGCAfs		synaptopodin 2-like isoform a																																				SO:0001589	frameshift_variant	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406489_75406493delGCCCC	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2917_2921delGGGGC	10.37:g.75406489_75406493delGCCCC	ENSP00000378289:p.Gly973fs					SYNPO2L_uc001jus.3_Frame_Shift_Del_p.G749fs	p.G973fs	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			4	3069_3073	-	Prostate(51;0.0112)		973_974					A5PKV9|Q68A20	Frame_Shift_Del	DEL	ENST00000394810.2	37	c.2917_2921delGGGGC	CCDS44438.1																																																																																				0.595	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2		NM_024875		35	169	NaN	NaN	NaN	NaN	NaN	35	169	---	---
ARHGAP20	57569	broad.mit.edu	37	11	110582896	110582897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr11:110582896_110582897insA	ENST00000260283.4	-	2	342_343	c.58_59insT	c.(58-60)tccfs	p.S20fs	ARHGAP20_ENST00000527598.1_Intron|ARHGAP20_ENST00000533353.1_Intron|ARHGAP20_ENST00000524756.1_5'Flank|ARHGAP20_ENST00000528829.1_Intron	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	20					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTGTCAGGGAAGAGGAGCGC	0.658																																						uc001pkz.1		NaN																	0				ovary(3)|kidney(2)	5						c.(58-60)TCCfs		Rho GTPase activating protein 20																																				SO:0001589	frameshift_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110582896_110582897insA	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.59dupT	11.37:g.110582898_110582898dupA	ENSP00000260283:p.Ser20fs					ARHGAP20_uc001pky.1_5'Flank|ARHGAP20_uc009yyb.1_Intron|ARHGAP20_uc001pla.1_Intron	p.S20fs	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	2	343_344	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	20					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Frame_Shift_Ins	INS	ENST00000260283.4	37	c.58_59insT	CCDS31673.1																																																																																				0.658	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1		NM_020809		19	34	NaN	NaN	NaN	NaN	NaN	19	34	---	---
KLRD1	3824	broad.mit.edu	37	12	10464092	10464100	+	In_Frame_Del	DEL	TGGGTTGGG	TGGGTTGGG	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:10464092_10464100delTGGGTTGGG	ENST00000381907.4	+	5	395_403	c.193_201delTGGGTTGGG	c.(193-201)tgggttgggdel	p.WVG65del	KLRD1_ENST00000543777.1_In_Frame_Del_p.WVG44del|KLRD1_ENST00000350274.5_In_Frame_Del_p.WVG34del|KLRD1_ENST00000336164.4_In_Frame_Del_p.WVG65del|KLRD1_ENST00000538997.1_3'UTR|KLRD1_ENST00000381908.3_In_Frame_Del_p.WVG65del|KLRD1_ENST00000543420.1_In_Frame_Del_p.WVG65del	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	65					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						CCAAGAAAAATGGGTTGGGTACCGGTGCA	0.402																																						uc001qxw.3		NaN																	0					0						c.(193-201)TGGGTTGGGdel		killer cell lectin-like receptor subfamily D,																																				SO:0001651	inframe_deletion	3824				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10464092_10464100delTGGGTTGGG	U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"""Killer cell lectin-like receptors"", ""CD molecules"""	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.193_201delTGGGTTGGG	12.37:g.10464092_10464100delTGGGTTGGG	ENSP00000371332:p.Trp65_Gly67del					KLRD1_uc001qxx.3_In_Frame_Del_p.WVG65del|KLRD1_uc001qxy.3_In_Frame_Del_p.WVG34del|KLRD1_uc009zhh.2_In_Frame_Del_p.WVG44del|KLRD1_uc009zhi.2_In_Frame_Del_p.WVG65del|KLRD1_uc001qxz.3_In_Frame_Del_p.WVG65del	p.WVG65del	NM_001114396	NP_001107868	Q13241	KLRD1_HUMAN			5	390_398	+			65_67			Extracellular (Potential).		O43321|O43773|Q9UBE3|Q9UEQ0	In_Frame_Del	DEL	ENST00000381907.4	37	c.193_201delTGGGTTGGG	CCDS8621.1																																																																																				0.402	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399684.2		NM_002262		15	101	NaN	NaN	NaN	NaN	NaN	15	101	---	---
CAND1	55832	broad.mit.edu	37	12	67696105	67696119	+	In_Frame_Del	DEL	AGTGATGATGAATAC	AGTGATGATGAATAC	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr12:67696105_67696119delAGTGATGATGAATAC	ENST00000545606.1	+	8	1440_1454	c.1003_1017delAGTGATGATGAATAC	c.(1003-1017)agtgatgatgaatacdel	p.SDDEY335del		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	335	Asp-rich.				cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ACCCTTAGGGAGTGATGATGAATACAGTGATGATG	0.358																																						uc001stn.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1003-1017)AGTGATGATGAATACdel		TIP120 protein																																				SO:0001651	inframe_deletion	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67696105_67696119delAGTGATGATGAATAC		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1003_1017delAGTGATGATGAATAC	12.37:g.67696105_67696119delAGTGATGATGAATAC	ENSP00000442318:p.Ser335_Tyr339del					CAND1_uc001sto.2_In_Frame_Del_p.SDDEY13del	p.SDDEY335del	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	8	1440_1454	+			335_339			Asp-rich.|HEAT 8.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	In_Frame_Del	DEL	ENST00000545606.1	37	c.1003_1017delAGTGATGATGAATAC	CCDS8977.1																																																																																				0.358	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1		NM_018448		10	179	NaN	NaN	NaN	NaN	NaN	10	179	---	---
RB1	5925	broad.mit.edu	37	13	48937042	48937043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:48937042_48937043insA	ENST00000267163.4	+	8	948_949	c.810_811insA	c.(811-813)acafs	p.T271fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	271					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.L267fs*3(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TAGAAAATGATACAAGAATTAT	0.342		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		22	Whole gene deletion(15)|Unknown(6)|Deletion - Frameshift(1)	p.?(5)|p.L267fs*3(1)	bone(11)|breast(5)|central_nervous_system(2)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(808-813)GATACAfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48937042_48937043insA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.811dupA	13.37:g.48937043_48937043dupA	ENSP00000267163:p.Thr271fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_RNA|RB1_uc010act.1_Intron	p.D270fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	8	976_977	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	270_271					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	ENST00000267163.4	37	c.810_811insA	CCDS31973.1																																																																																				0.342	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				40	49	NaN	NaN	NaN	NaN	NaN	40	49	---	---
IPO5	3843	broad.mit.edu	37	13	98652878	98652880	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr13:98652878_98652880delATT	ENST00000490680.1	+	10	1152_1154	c.1087_1089delATT	c.(1087-1089)attdel	p.I363del	IPO5_ENST00000539640.1_In_Frame_Del_p.I238del|IPO5_ENST00000261574.5_In_Frame_Del_p.I381del			O00410	IPO5_HUMAN	importin 5	363	Ran-GTP binding. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CAAGGAACACATTATGCAAATGC	0.414																																						uc001vnf.1		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(1087-1089)ATTdel		importin 5																																				SO:0001651	inframe_deletion	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98652878_98652880delATT	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1087_1089delATT	13.37:g.98652878_98652880delATT	ENSP00000418393:p.Ile363del					IPO5_uc001vne.2_In_Frame_Del_p.I381del|IPO5_uc010tik.1_In_Frame_Del_p.I238del|IPO5_uc010til.1_In_Frame_Del_p.I303del|IPO5_uc001vng.1_5'Flank	p.I363del	NM_002271	NP_002262	O00410	IPO5_HUMAN			10	1152_1154	+			363			Ran-GTP binding (By similarity).		B4DZA0|O15257|Q5T578|Q86XC7	In_Frame_Del	DEL	ENST00000490680.1	37	c.1087_1089delATT																																																																																					0.414	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1		NM_002271		36	97	NaN	NaN	NaN	NaN	NaN	36	97	---	---
NIN	51199	broad.mit.edu	37	14	51237206	51237208	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr14:51237206_51237208delAGG	ENST00000382041.3	-	12	1522_1524	c.1332_1334delCCT	c.(1330-1335)atcctg>atg	p.444_445IL>M	NIN_ENST00000245441.5_In_Frame_Del_p.444_445IL>M|NIN_ENST00000453196.1_In_Frame_Del_p.444_445IL>M|NIN_ENST00000324330.9_In_Frame_Del_p.444_445IL>M|NIN_ENST00000382043.4_In_Frame_Del_p.444_445IL>M|NIN_ENST00000389868.3_In_Frame_Del_p.444_445IL>M|NIN_ENST00000530997.2_In_Frame_Del_p.444_445IL>M	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	444					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCCTGCTGCAGGATCTGCTCTC	0.448			T	PDGFRB	MPD																																	uc001wym.2		NaN		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(1330-1335)ATCCTG>ATG		ninein isoform 5																																				SO:0001651	inframe_deletion	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51237206_51237208delAGG	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1332_1334delCCT	14.37:g.51237206_51237208delAGG	ENSP00000371472:p.Ile444_Leu445delinsMet					NIN_uc001wyi.2_In_Frame_Del_p.444_445IL>M|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_In_Frame_Del_p.444_445IL>M|NIN_uc010tqp.1_In_Frame_Del_p.450_451IL>M|NIN_uc001wyo.2_In_Frame_Del_p.444_445IL>M|NIN_uc001wyp.1_In_Frame_Del_p.406_407IL>M	p.444_445IL>M	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			12	1523_1525	-	all_epithelial(31;0.00244)|Breast(41;0.127)		444_445			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	In_Frame_Del	DEL	ENST00000382041.3	37	c.1332_1334delCCT	CCDS32079.1																																																																																				0.448	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946		14	55	NaN	NaN	NaN	NaN	NaN	14	55	---	---
TAOK2	9344	broad.mit.edu	37	16	29994974	29994988	+	Splice_Site	DEL	ACCGCCTCCCTGGTG	ACCGCCTCCCTGGTG	-	rs61737875	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:29994974_29994988delACCGCCTCCCTGGTG	ENST00000308893.4	+	13	2454_2465	c.1411_1422delACCGCCTCCCTGGTG	c.(1411-1422)accgcctccctgdel	p.TASL471del	TAOK2_ENST00000416441.2_Splice_Site_p.TASL298del|TAOK2_ENST00000543033.1_Splice_Site_p.TASL471del|TAOK2_ENST00000279394.3_Splice_Site_p.TASL471del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	471					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CACCATCCGAACCGCCTCCCTGGTGAGTGTAGCCA	0.577																																						uc002dva.1		NaN																	0				ovary(1)	1						c.e13+1		TAO kinase 2 isoform 2																																				SO:0001630	splice_region_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994974_29994988delACCGCCTCCCTGGTG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1422+1ACCGCCTCCCTGGTG>-	16.37:g.29994974_29994988delACCGCCTCCCTGGTG						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Splice_Site_p.L474_splice|TAOK2_uc002dvc.1_Splice_Site_p.L474_splice|TAOK2_uc010bzm.1_Splice_Site_p.L481_splice|TAOK2_uc002dvd.1_Splice_Site_p.L301_splice	p.L474_splice	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			13	2205	+								A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Splice_Site	DEL	ENST00000308893.4	37	c.1422_splice	CCDS10663.1																																																																																				0.577	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2		NM_016151	In_Frame_Del	44	396	NaN	NaN	NaN	NaN	NaN	44	396	---	---
FOXC2	2303	broad.mit.edu	37	16	86601790	86601790	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr16:86601790delG	ENST00000320354.4	+	1	934	c.849delG	c.(847-849)ccgfs	p.P283fs	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	283					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CGTCGCCGCCGGGCGGAGAGC	0.786									Late-onset Hereditary Lymphedema																													uc002fjq.2		NaN																	0					0						c.(847-849)CCGfs		forkhead box C2							1.0	2.0	2.0					16																	86601790		1064	2401	3465	SO:0001589	frameshift_variant	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601790delG	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.849delG	16.37:g.86601790delG	ENSP00000326371:p.Pro283fs						p.P283fs	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	934	+			283					C6KMR9|Q14DA6	Frame_Shift_Del	DEL	ENST00000320354.4	37	c.849delG	CCDS10958.1																																																																																				0.786	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2		NM_005251		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
ENGASE	64772	broad.mit.edu	37	17	77082023	77082040	+	In_Frame_Del	DEL	CGCTGCCAGCCTGCTGGC	CGCTGCCAGCCTGCTGGC	-	rs370521068|rs373908298		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr17:77082023_77082040delCGCTGCCAGCCTGCTGGC	ENST00000579016.1	+	14	1824_1841	c.1824_1841delCGCTGCCAGCCTGCTGGC	c.(1822-1842)gacgctgccagcctgctggcc>gac	p.AASLLA609del		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	609						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGGTGGTGGACGCTGCCAGCCTGCTGGCCCCTCTGCCC	0.706																																						uc002jwv.2		NaN																	0				skin(1)	1						c.(1822-1842)GACGCTGCCAGCCTGCTGGCC>GAC		endo-beta-N-acetylglucosaminidase																																				SO:0001651	inframe_deletion	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77082023_77082040delCGCTGCCAGCCTGCTGGC	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1824_1841delCGCTGCCAGCCTGCTGGC	17.37:g.77082023_77082040delCGCTGCCAGCCTGCTGGC	ENSP00000462333:p.Ala609_Ala614del					ENGASE_uc002jww.2_In_Frame_Del_p.AASLLA314del	p.AASLLA609del	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			14	1832_1849	+			609_614					Q659F0|Q8TB86|Q9H6U4	In_Frame_Del	DEL	ENST00000579016.1	37	c.1824_1841delCGCTGCCAGCCTGCTGGC	CCDS42394.1																																																																																				0.706	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1		NM_022759		42	73	NaN	NaN	NaN	NaN	NaN	42	73	---	---
MBD1	4152	broad.mit.edu	37	18	47800628	47800639	+	In_Frame_Del	DEL	GTCGCAGCAGAA	GTCGCAGCAGAA	-	rs115570375		TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr18:47800628_47800639delGTCGCAGCAGAA	ENST00000591416.1	-	11	1494_1505	c.1063_1074delTTCTGCTGCGAC	c.(1063-1074)ttctgctgcgacdel	p.FCCD355del	MBD1_ENST00000382948.5_In_Frame_Del_p.FCCD355del|MBD1_ENST00000269468.5_In_Frame_Del_p.FCCD355del|MBD1_ENST00000269471.5_In_Frame_Del_p.FCCD332del|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000457839.2_In_Frame_Del_p.FCCD380del|MBD1_ENST00000353909.3_In_Frame_Del_p.FCCD306del|MBD1_ENST00000339998.6_In_Frame_Del_p.FCCD355del|MBD1_ENST00000590208.1_In_Frame_Del_p.FCCD355del|MBD1_ENST00000591535.1_In_Frame_Del_p.FCCD332del|MBD1_ENST00000436910.1_In_Frame_Del_p.FCCD332del|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000424334.2_In_Frame_Del_p.FCCD406del|MBD1_ENST00000585672.1_In_Frame_Del_p.FCCD305del|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000585595.1_In_Frame_Del_p.FCCD380del|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000588937.1_In_Frame_Del_p.FCCD332del			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	355					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						ATTTGGGCTTGTCGCAGCAGAAGTCGCAGCGG	0.651																																						uc010dow.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1063-1074)TTCTGCTGCGACdel		methyl-CpG binding domain protein 1 isoform 1																																				SO:0001651	inframe_deletion	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47800628_47800639delGTCGCAGCAGAA	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1063_1074delTTCTGCTGCGAC	18.37:g.47800628_47800639delGTCGCAGCAGAA	ENSP00000467017:p.Phe355_Asp358del					MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_In_Frame_Del_p.FCCD305del|MBD1_uc010xdi.1_In_Frame_Del_p.FCCD406del|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_In_Frame_Del_p.FCCD355del|MBD1_uc002lei.3_In_Frame_Del_p.FCCD355del|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_In_Frame_Del_p.FCCD306del|MBD1_uc002lel.3_In_Frame_Del_p.FCCD332del|MBD1_uc002lem.3_In_Frame_Del_p.FCCD355del|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_In_Frame_Del_p.FCCD380del|MBD1_uc010dox.1_In_Frame_Del_p.FCCD332del|MBD1_uc002leo.2_In_Frame_Del_p.FCCD355del	p.FCCD355del	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			11	1500_1511	-			355_358			CXXC-type 3.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	In_Frame_Del	DEL	ENST00000591416.1	37	c.1063_1074delTTCTGCTGCGAC	CCDS11943.1																																																																																				0.651	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3		NM_015846		10	124	NaN	NaN	NaN	NaN	NaN	10	124	---	---
FOSL2	2355	broad.mit.edu	37	2	28635076	28635076	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:28635076delC	ENST00000264716.4	+	4	1605	c.742delC	c.(742-744)cccfs	p.P248fs	FOSL2_ENST00000379619.1_Frame_Shift_Del_p.P240fs|FOSL2_ENST00000545753.1_Frame_Shift_Del_p.P209fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	248					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGTCATCAAGCCCATCAGCAT	0.652																																						uc002rma.2		NaN																	0				ovary(2)|breast(1)	3						c.(742-744)CCCfs		FOS-like antigen 2							40.0	37.0	38.0					2																	28635076		2203	4300	6503	SO:0001589	frameshift_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28635076delC		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.742delC	2.37:g.28635076delC	ENSP00000264716:p.Pro248fs					FOSL2_uc010ymi.1_Frame_Shift_Del_p.P209fs	p.P248fs	NM_005253	NP_005244	P15408	FOSL2_HUMAN			4	1551	+	Acute lymphoblastic leukemia(172;0.155)		248					B2RD58|B3KP27|B4DYV4|Q6FG46	Frame_Shift_Del	DEL	ENST00000264716.4	37	c.742delC	CCDS1766.1																																																																																				0.652	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2		NM_005253		22	65	NaN	NaN	NaN	NaN	NaN	22	65	---	---
CHPF	79586	broad.mit.edu	37	2	220406623	220406638	+	Frame_Shift_Del	DEL	GGTGTCAGGCACCAGG	GGTGTCAGGCACCAGG	-	rs531279488|rs200286365	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr2:220406623_220406638delGGTGTCAGGCACCAGG	ENST00000243776.6	-	2	836_851	c.588_603delCCTGGTGCCTGACACC	c.(586-603)ttcctggtgcctgacaccfs	p.FLVPDT196fs	TMEM198_ENST00000344458.2_5'Flank|TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000535926.1_Frame_Shift_Del_p.FLVPDT34fs|CHPF_ENST00000373891.2_Frame_Shift_Del_p.FLVPDT196fs	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	196					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.P199P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGGTGTAGGTGGTGTCAGGCACCAGGAAGAACCAGT	0.681											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002vmc.3		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(586-603)TTCCTGGTGCCTGACACCfs		chondroitin polymerizing factor																																				SO:0001589	frameshift_variant	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220406623_220406638delGGTGTCAGGCACCAGG	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.588_603delCCTGGTGCCTGACACC	2.37:g.220406623_220406638delGGTGTCAGGCACCAGG	ENSP00000243776:p.Phe196fs		OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2266	CHPF_uc010zlh.1_Frame_Shift_Del_p.F34fs|CHPF_uc002vmd.3_Frame_Shift_Del_p.F196fs|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank	p.F196fs	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	815_830	-		Renal(207;0.0183)	196_201			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Frame_Shift_Del	DEL	ENST00000243776.6	37	c.588_603delCCTGGTGCCTGACACC	CCDS2443.1																																																																																				0.681	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1		NM_024536		7	19	NaN	NaN	NaN	NaN	NaN	7	19	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-BT-A3PJ-01A-21D-A21Z-08	TCGA-BT-A3PJ-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b73523d7-f5a5-4140-8537-4df4d1ecf465	c79e40d8-3c21-4219-81f8-c448a38f0f18	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						uc003vqw.3		NaN																	2	Deletion - In frame(2)		prostate(2)	breast(2)|pancreas(1)	3						c.(82-90)CCGTCGCCC>CCC		podocalyxin-like isoform 1 precursor																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_uc003vqx.3_In_Frame_Del_p.28_30PSP>P	p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN			1	342_347	-	Melanoma(18;0.162)		28_30			Extracellular (Potential).		A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2		NM_001018111		6	2	NaN	NaN	NaN	NaN	NaN	6	2	---	---
