#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
VPS13D	55187	broad.mit.edu	37	1	12422812	12422812	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:12422812A>T	ENST00000358136.3	+	51	10308	c.10178A>T	c.(10177-10179)gAt>gTt	p.D3393V	VPS13D_ENST00000356315.4_Missense_Mutation_p.D3368V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.D3393V(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGATACATTGATACCTGCATG	0.428																																						uc001atv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(1)	5						c.(10177-10179)GAT>GTT		vacuolar protein sorting 13D isoform 1							207.0	202.0	204.0					1																	12422812		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12422812A>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10178A>T	1.37:g.12422812A>T	ENSP00000350854:p.Asp3393Val					VPS13D_uc001atw.2_Missense_Mutation_p.D3368V|VPS13D_uc001atx.2_Missense_Mutation_p.D2580V	p.D3393V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	51	10319	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3392						Missense_Mutation	SNP	ENST00000358136.3	37	c.10178A>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.2|25.2	4.617464|4.617464	0.87359|0.87359	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.30714|.	1.52;1.52|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Vacuolar protein sorting-associated protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71676|0.71676	0.3368|0.3368	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D|.	0.58620|.	0.983;0.97|.	P;P|.	0.58013|.	0.799;0.831|.	T|T	0.70766|0.70766	-0.4783|-0.4783	10|5	0.29301|.	T|.	0.29|.	.|.	15.8035|15.8035	0.78473|0.78473	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3368;3392|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	V|L	3368;3393|2215	ENSP00000348666:D3368V;ENSP00000350854:D3393V|.	ENSP00000348666:D3368V|.	D|I	+|+	2|1	0|0	VPS13D|VPS13D	12345399|12345399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	8.600000|8.600000	0.90860|0.90860	2.130000|2.130000	0.65690|0.65690	0.482000|0.482000	0.46254|0.46254	GAT|ATA		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		68	142	0	0	0	0.048971	0	68	142		
SZRD1	26099	broad.mit.edu	37	1	16721628	16721628	+	Missense_Mutation	SNP	G	G	A	rs374656978		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:16721628G>A	ENST00000401088.4	+	4	627	c.452G>A	c.(451-453)cGc>cAc	p.R151H	SPATA21_ENST00000466212.1_5'Flank|SZRD1_ENST00000492354.1_Missense_Mutation_p.R131H|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000401089.3_Missense_Mutation_p.R132H|SZRD1_ENST00000471507.1_Missense_Mutation_p.R150H|SZRD1_ENST00000375590.3_Silent_p.A114A	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	151								p.R132H(1)|p.R151H(1)									TTCAAACAGCGCAGATAAATG	0.582																																						uc001aym.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(451-453)CGC>CAC		putative MAPK activating protein PM20,PM21		G	HIS/ARG,HIS/ARG	4,4014		0,4,2005	46.0	48.0	47.0		452,395	4.9	1.0	1		47	0,8296		0,0,4148	no	missense,missense	C1orf144	NM_001114600.1,NM_015609.3	29,29	0,4,6153	AA,AG,GG		0.0,0.0996,0.0325	benign,benign	151/153,132/134	16721628	4,12310	2009	4148	6157	SO:0001583	missense	26099							g.chr1:16721628G>A	BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 144"""	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.452G>A	1.37:g.16721628G>A	ENSP00000383866:p.Arg151His					C1orf144_uc010ocb.1_Silent_p.A114A|C1orf144_uc001ayi.3_Missense_Mutation_p.R132H|C1orf144_uc001ayk.3_Missense_Mutation_p.R131H	p.R151H	NM_001114600	NP_001108072	Q7Z422	CA144_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	4	622	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	151					A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Missense_Mutation	SNP	ENST00000401088.4	37	c.452G>A	CCDS44065.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026653	0.54683	9.96E-4	0.0	ENSG00000055070	ENST00000401088;ENST00000471507;ENST00000401089;ENST00000434120;ENST00000492354	.	.	.	5.78	4.87	0.63330	SUZ-C domain (1);	0.100139	0.64402	D	0.000002	T	0.55178	0.1904	N	0.19112	0.55	0.80722	D	1	D;B;B	0.76494	0.999;0.004;0.025	P;B;B	0.61275	0.886;0.002;0.011	T	0.61083	-0.7134	9	0.66056	D	0.02	1.9707	14.2532	0.66033	0.0716:0.0:0.9284:0.0	.	151;131;132	Q7Z422;Q7Z422-2;Q7Z422-4	CA144_HUMAN;.;.	H	151;150;132;139;131	.	ENSP00000383866:R151H	R	+	2	0	C1orf144	16594215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.556000	0.60775	1.449000	0.47699	0.650000	0.86243	CGC		0.582	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006283.2		NM_015609		5	16	0	0	0	0.021553	0	5	16		
NBPF1	55672	broad.mit.edu	37	1	16918403	16918403	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:16918403G>C	ENST00000430580.2	-	7	1001	c.114C>G	c.(112-114)ctC>ctG	p.L38L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	38						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATTTCTCTTTGAGGTTTCTGA	0.468																																						uc009vos.1		NaN																	0					0						c.(112-114)CTC>CTG		hypothetical protein LOC55672							407.0	408.0	408.0					1																	16918403		2203	4300	6503	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16918403G>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.114C>G	1.37:g.16918403G>C						NBPF1_uc010oce.1_Intron	p.L38L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	7	1002	-			38					Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.114C>G																																																																																					0.468	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3		NM_017940		49	809	0	0	0	0.048971	0	49	809		
UBR4	23352	broad.mit.edu	37	1	19441918	19441918	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:19441918C>T	ENST00000375254.3	-	74	11064	c.11037G>A	c.(11035-11037)gaG>gaA	p.E3679E	UBR4_ENST00000375217.2_Silent_p.E3672E|UBR4_ENST00000375226.2_Silent_p.E3655E|UBR4_ENST00000375218.3_Silent_p.E94E|UBR4_ENST00000375267.2_Silent_p.E3679E	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3679					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E3679E(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTACACATTCTCTCCACAGT	0.517																																						uc001bbi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(11035-11037)GAG>GAA		retinoblastoma-associated factor 600							57.0	58.0	57.0					1																	19441918		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19441918C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11037G>A	1.37:g.19441918C>T						UBR4_uc001bbj.1_Silent_p.E94E	p.E3679E	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	74	11041	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3679					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.11037G>A	CCDS189.1																																																																																				0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		17	35	0	0	0	0.038395	0	17	35		
PPIE	10450	broad.mit.edu	37	1	40214727	40214727	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:40214727G>A	ENST00000324379.5	+	8	680	c.661G>A	c.(661-663)Gat>Aat	p.D221N	PPIE_ENST00000356511.2_Missense_Mutation_p.D221N|PPIE_ENST00000470213.1_Missense_Mutation_p.M179I|PPIE_ENST00000372830.1_Missense_Mutation_p.D221N	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	221	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D221N(2)		kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGTTCGATGATGAAAACTT	0.557																																						uc001cds.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(661-663)GAT>AAT		peptidylprolyl isomerase E isoform 1							89.0	85.0	86.0					1																	40214727		2203	4300	6503	SO:0001583	missense	10450				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding	g.chr1:40214727G>A	AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"""RNA binding motif (RRM) containing"""	9258	protein-coding gene	gene with protein product	"""peptidyl-prolyl cis-trans isomerase E"", ""cyclophilin 33"", ""cyclophilin E"", ""PPIase E"", ""rotamase E"", ""peptidylprolyl isomerase E, isoform 1"""	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.661G>A	1.37:g.40214727G>A	ENSP00000312769:p.Asp221Asn					PPIE_uc001cdt.1_Missense_Mutation_p.D155N|PPIE_uc010oiy.1_Missense_Mutation_p.D142N|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.D221N|PPIE_uc001cdw.2_Missense_Mutation_p.D221N|PPIE_uc001cdx.1_Missense_Mutation_p.D137N	p.D221N	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		8	704	+	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	221			PPIase cyclophilin-type.		B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Missense_Mutation	SNP	ENST00000324379.5	37	c.661G>A	CCDS443.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.258144|4.258144	0.80246|0.80246	.|.	.|.	ENSG00000084072|ENSG00000084072	ENST00000324379;ENST00000356511;ENST00000497370;ENST00000372835;ENST00000372830|ENST00000470213	T;T;T;T;T|T	0.50813|0.04862	0.73;0.73;0.73;0.73;1.09|3.54	4.87|4.87	3.96|3.96	0.45880|0.45880	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.22898|0.22898	0.0553|0.0553	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.89917|.	0.901;0.968;1.0;0.986|.	B;P;D;P|.	0.91635|.	0.387;0.816;0.999;0.844|.	T|T	0.01819|0.01819	-1.1267|-1.1267	10|7	0.87932|0.54805	D|T	0|0.06	-26.1362|-26.1362	12.8299|12.8299	0.57740|0.57740	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	142;221;221;221|.	B4E3F2;Q5TGA3;Q9UNP9-2;Q9UNP9|.	.;.;.;PPIE_HUMAN|.	N|I	221;221;155;170;221|179	ENSP00000312769:D221N;ENSP00000348904:D221N;ENSP00000433475:D155N;ENSP00000361925:D170N;ENSP00000361918:D221N|ENSP00000431714:M179I	ENSP00000312769:D221N|ENSP00000431714:M179I	D|M	+|+	1|3	0|0	PPIE|PPIE	39987314|39987314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.802000|0.802000	0.45316|0.45316	7.418000|7.418000	0.80167|0.80167	1.301000|1.301000	0.44836|0.44836	0.462000|0.462000	0.41574|0.41574	GAT|ATG		0.557	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2		NM_006112		31	32	0	0	0	0.050027	0	31	32		
CDC14A	8556	broad.mit.edu	37	1	100920981	100920981	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:100920981C>T	ENST00000336454.3	+	8	895	c.540C>T	c.(538-540)ttC>ttT	p.F180F	CDC14A_ENST00000370125.2_Intron|CDC14A_ENST00000542213.1_Silent_p.F122F|CDC14A_ENST00000370124.3_Silent_p.F180F|CDC14A_ENST00000361544.6_Silent_p.F180F|CDC14A_ENST00000544534.1_Silent_p.F180F	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	180	B.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F180F(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		ATGGTGACTTCAACTGGATTG	0.303																																						uc001dtg.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(538-540)TTC>TTT		CDC14 homolog A isoform 1							80.0	83.0	82.0					1																	100920981		2203	4298	6501	SO:0001819	synonymous_variant	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100920981C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.540C>T	1.37:g.100920981C>T						CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Silent_p.F122F|CDC14A_uc001dte.3_Silent_p.F180F|CDC14A_uc001dtf.2_Silent_p.F180F|CDC14A_uc009wed.1_Intron|CDC14A_uc009wee.2_Silent_p.F180F	p.F180F	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	8	1028	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	180			B.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	c.540C>T	CCDS769.1																																																																																				0.303	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1		NM_033312		27	38	0	0	0	0.108266	0	27	38		
MAB21L3	126868	broad.mit.edu	37	1	116670903	116670903	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:116670903G>A	ENST00000369500.3	+	6	1063	c.798G>A	c.(796-798)ctG>ctA	p.L266L		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	266								p.L266L(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TGAGGCACCTGAAGGAGGACA	0.587																																						uc001egc.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(796-798)CTG>CTA		hypothetical protein LOC126868							61.0	55.0	57.0					1																	116670903		2203	4300	6503	SO:0001819	synonymous_variant	126868							g.chr1:116670903G>A	AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.798G>A	1.37:g.116670903G>A							p.L266L	NM_152367	NP_689580	Q8N8X9	MB213_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	1063	+	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)	266					Q5TDL7	Silent	SNP	ENST00000369500.3	37	c.798G>A	CCDS886.1																																																																																				0.587	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1		NM_152367		4	23	0	0	0	0.009096	0	4	23		
Unknown	0	broad.mit.edu	37	1	144619399	144619399	+	IGR	SNP	G	G	A	rs4067645	byFrequency	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:144619399G>A								RP11-640M9.2 (13508 upstream) : NBPF9 (192344 downstream)																							ATGAGAAAGTGCAGAAATCAT	0.413													.|||	119	0.023762	0.0772	0.0072	5008	,	,		29259	0.002		0.0089	False		,,,				2504	0.001					uc009wig.1		NaN																	0					0						c.(544-546)GTG>GTA		hypothetical protein LOC400818																																				SO:0001628	intergenic_variant	400818					cytoplasm		g.chr1:144619399G>A																													1.37:g.144619399G>A						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Silent_p.V182V|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Silent_p.V113V|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Silent_p.V113V|NBPF9_uc010oyg.1_Silent_p.V147V|NBPF9_uc009wii.1_Intron	p.V182V	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			7	622	+			182			NBPF 1.			Silent	SNP		37	c.546G>A																																																																																				0	0.413										5	230	0	0	0	0.024245	0	5	230		
PDE4DIP	9659	broad.mit.edu	37	1	144923818	144923818	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:144923818T>C	ENST00000369354.3	-	6	829	c.640A>G	c.(640-642)Atg>Gtg	p.M214V	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.M280V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.M377V|PDE4DIP_ENST00000479408.2_Start_Codon_SNP_p.M1V|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.M377V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.M351V|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.M214V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.M351V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.M214V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.M214V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	214					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.M214V(2)|p.M377V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTTCAGTCATGGGCTAGGAA	0.403			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		3	Substitution - Missense(3)		urinary_tract(3)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(640-642)ATG>GTG		phosphodiesterase 4D interacting protein isoform							161.0	151.0	155.0					1																	144923818		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144923818T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.640A>G	1.37:g.144923818T>C	ENSP00000358360:p.Met214Val					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.M280V|PDE4DIP_uc001emc.1_Missense_Mutation_p.M214V|PDE4DIP_uc001emd.1_Missense_Mutation_p.M214V|PDE4DIP_uc001emb.1_Missense_Mutation_p.M377V|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.M1V	p.M214V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	6	931	-			214					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.640A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	8.774	0.926686	0.18056	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.10477	4.83;4.93;4.93;4.93;4.92;3.93;3.94;2.88;2.88;2.87	5.84	-2.58	0.06228	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	0.999994	B;B;B;B;B	0.13594	0.0;0.0;0.0;0.008;0.0	B;B;B;B;B	0.13407	0.0;0.0;0.001;0.009;0.001	T	0.47156	-0.9139	9	0.15952	T	0.53	.	11.4935	0.50394	0.0:0.4584:0.0:0.5416	.	377;214;377;280;214	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	V	280;214;214;377;351;351;214;214;377;377;1	ENSP00000327209:M280V;ENSP00000358360:M214V;ENSP00000358363:M214V;ENSP00000435654:M351V;ENSP00000358366:M351V;ENSP00000358357:M214V;ENSP00000358355:M214V;ENSP00000316434:M377V;ENSP00000433392:M377V;ENSP00000436791:M1V	ENSP00000327209:M280V	M	-	1	0	PDE4DIP	143635175	0.000000	0.05858	0.149000	0.22428	0.655000	0.38815	-1.325000	0.02687	-0.454000	0.07066	-0.261000	0.10672	ATG		0.403	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		19	103	0	0	0	0.043863	0	19	103		
FAM63A	55793	broad.mit.edu	37	1	150974829	150974829	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:150974829C>G	ENST00000361936.5	-	3	1219	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000493834.2_5'UTR|FAM63A_ENST00000361738.6_Missense_Mutation_p.E137Q	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	89						extracellular vesicular exosome (GO:0070062)		p.E89Q(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTATTGTCTCTACTTCAGGC	0.582																																						uc001ewf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(265-267)GAG>CAG		hypothetical protein LOC55793 isoform 1							78.0	76.0	77.0					1																	150974829		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150974829C>G	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.265G>C	1.37:g.150974829C>G	ENSP00000354814:p.Glu89Gln					FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_5'UTR|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Missense_Mutation_p.E137Q|FAM63A_uc001ewg.2_Missense_Mutation_p.E89Q	p.E89Q	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	1949	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		89					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.265G>C	CCDS976.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198581	0.79015	.	.	ENSG00000143409	ENST00000361936;ENST00000361738	T;T	0.46063	0.9;0.88	5.18	5.18	0.71444	.	0.142708	0.46145	D	0.000307	T	0.46092	0.1375	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.68943	0.961;0.829	T	0.14924	-1.0455	10	0.19147	T	0.46	-32.3678	16.2281	0.82311	0.0:1.0:0.0:0.0	.	137;89	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	Q	89;137	ENSP00000354814:E89Q;ENSP00000354669:E137Q	ENSP00000354669:E137Q	E	-	1	0	FAM63A	149241453	0.777000	0.28628	0.959000	0.39883	0.017000	0.09413	3.623000	0.54224	2.680000	0.91292	0.655000	0.94253	GAG		0.582	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1		NM_018379		23	39	0	0	0	0.069288	0	23	39		
IQGAP3	128239	broad.mit.edu	37	1	156503868	156503868	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:156503868G>C	ENST00000361170.2	-	30	3816	c.3806C>G	c.(3805-3807)tCa>tGa	p.S1269*		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1269					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.S1269*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCATGTCTGAGTACTCGTC	0.607																																						uc001fpf.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(5)|skin(1)	6						c.(3805-3807)TCA>TGA		IQ motif containing GTPase activating protein 3							132.0	115.0	121.0					1																	156503868		2203	4300	6503	SO:0001587	stop_gained	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156503868G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3806C>G	1.37:g.156503868G>C	ENSP00000354451:p.Ser1269*						p.S1269*	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			30	3881	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1269					Q5T3H8	Nonsense_Mutation	SNP	ENST00000361170.2	37	c.3806C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	43	10.306347	0.99380	.	.	ENSG00000183856	ENST00000361170	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.5281	17.1295	0.86723	0.0:0.0:1.0:0.0	.	.	.	.	X	1269	.	ENSP00000354451:S1269X	S	-	2	0	IQGAP3	154770492	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.740000	0.84986	2.700000	0.92200	0.462000	0.41574	TCA		0.607	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1		NM_178229		26	47	0	0	0	0.030593	0	26	47		
OLFML2B	25903	broad.mit.edu	37	1	161968053	161968053	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:161968053T>A	ENST00000294794.3	-	6	1459	c.1036A>T	c.(1036-1038)Acc>Tcc	p.T346S	OLFML2B_ENST00000367940.2_Missense_Mutation_p.T347S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	346					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.T346S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGCCTCCGGGTGACACTGGTC	0.567																																						uc001gbu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1036-1038)ACC>TCC		olfactomedin-like 2B precursor							97.0	97.0	97.0					1																	161968053		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161968053T>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1036A>T	1.37:g.161968053T>A	ENSP00000294794:p.Thr346Ser					OLFML2B_uc010pkq.1_Missense_Mutation_p.T347S	p.T346S	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1460	-	all_hematologic(112;0.156)		346					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1036A>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	T	9.640	1.138708	0.21123	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.87103	-2.21;-2.21	4.62	0.837	0.18896	.	.	.	.	.	T	0.67757	0.2927	L	0.32530	0.975	0.33101	D	0.539273	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.51419	-0.8708	8	0.54805	T	0.06	.	11.2149	0.48821	0.0:0.0:0.4883:0.5116	.	347;346	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	S	346;347	ENSP00000294794:T346S;ENSP00000356917:T347S	ENSP00000294794:T346S	T	-	1	0	OLFML2B	160234677	0.000000	0.05858	0.068000	0.19968	0.023000	0.10783	0.285000	0.18883	-0.030000	0.13804	0.379000	0.24179	ACC		0.567	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2		NM_015441		26	70	0	0	0	0.083992	0	26	70		
TNFSF4	7292	broad.mit.edu	37	1	173176222	173176222	+	Nonsense_Mutation	SNP	G	G	A	rs545833237		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:173176222G>A	ENST00000281834.3	-	1	230	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_5'Flank	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	32					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.Q32*(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCCAGTCCCTGAATTACAGAG	0.537																																						uc001giw.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(94-96)CAG>TAG		tumor necrosis factor (ligand) superfamily,							125.0	107.0	113.0					1																	173176222		2203	4300	6503	SO:0001587	stop_gained	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173176222G>A	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.94C>T	1.37:g.173176222G>A	ENSP00000281834:p.Gln32*					TNFSF4_uc001giv.2_5'Flank	p.Q32*	NM_003326	NP_003317	P23510	TNFL4_HUMAN			1	250	-			32			Helical; Signal-anchor for type II membrane protein; (Potential).		Q5JZA5|Q8IV74|Q9HCN9	Nonsense_Mutation	SNP	ENST00000281834.3	37	c.94C>T	CCDS1306.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552021	0.86127	.	.	ENSG00000117586	ENST00000281834	.	.	.	5.67	4.74	0.60224	.	0.334229	0.26255	N	0.025440	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-8.3642	11.5562	0.50750	0.0:0.0:0.8146:0.1853	.	.	.	.	X	32	.	ENSP00000281834:Q32X	Q	-	1	0	TNFSF4	171442845	0.997000	0.39634	0.708000	0.30435	0.104000	0.19210	3.308000	0.51896	1.331000	0.45412	0.655000	0.94253	CAG		0.537	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1				15	35	0	0	0	0.020292	0	15	35		
HMCN1	83872	broad.mit.edu	37	1	186113383	186113383	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:186113383G>A	ENST00000271588.4	+	90	14232	c.14003G>A	c.(14002-14004)aGa>aAa	p.R4668K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4668K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4668	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R4668K(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACAAGAGCAAGACTTTGTAAT	0.478																																						uc001grq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(22)|skin(1)	23						c.(14002-14004)AGA>AAA		hemicentin 1 precursor							156.0	157.0	157.0					1																	186113383		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186113383G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14003G>A	1.37:g.186113383G>A	ENSP00000271588:p.Arg4668Lys					HMCN1_uc001grs.1_Missense_Mutation_p.R237K	p.R4668K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			90	14232	+			4668			TSP type-1 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14003G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716723	0.68844	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.62232	0.04;0.04	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.86029	0.5835	H	0.95611	3.695	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	D	0.89781	0.3961	10	0.87932	D	0	.	19.5821	0.95471	0.0:0.0:1.0:0.0	.	4668	Q96RW7	HMCN1_HUMAN	K	4668	ENSP00000271588:R4668K;ENSP00000356462:R4668K	ENSP00000271588:R4668K	R	+	2	0	HMCN1	184380006	1.000000	0.71417	0.243000	0.24186	0.035000	0.12851	9.083000	0.94067	2.708000	0.92522	0.650000	0.86243	AGA		0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		37	106	0	0	0	0.080422	0	37	106		
TPR	7175	broad.mit.edu	37	1	186324850	186324850	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:186324850T>C	ENST00000367478.4	-	16	2235	c.1939A>G	c.(1939-1941)Aca>Gca	p.T647A	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	647					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.T647A(1)|p.T648A(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTCTGTGATGTACTTGGACGT	0.398			T	NTRK1	papillary thyroid																																	uc001grv.2		NaN		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(1939-1941)ACA>GCA		nuclear pore complex-associated protein TPR							135.0	132.0	133.0					1																	186324850		1927	4139	6066	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186324850T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1939A>G	1.37:g.186324850T>C	ENSP00000356448:p.Thr647Ala						p.T647A	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	16	2236	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	647					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1939A>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	7.970	0.748833	0.15710	.	.	ENSG00000047410	ENST00000367478	T	0.16457	2.34	5.04	3.72	0.42706	.	0.465992	0.24625	N	0.036921	T	0.04588	0.0125	N	0.01705	-0.755	0.22858	N	0.998647	B	0.02656	0.0	B	0.01281	0.0	T	0.42120	-0.9470	10	0.07482	T	0.82	.	5.023	0.14370	0.1563:0.1215:0.0:0.7222	.	647	P12270	TPR_HUMAN	A	647	ENSP00000356448:T647A	ENSP00000356448:T647A	T	-	1	0	TPR	184591473	0.999000	0.42202	0.998000	0.56505	0.857000	0.48899	1.243000	0.32767	2.025000	0.59659	0.482000	0.46254	ACA		0.398	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		31	53	0	0	0	0.041601	0	31	53		
CACNA1S	779	broad.mit.edu	37	1	201060841	201060841	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:201060841G>C	ENST00000362061.3	-	5	847	c.621C>G	c.(619-621)gtC>gtG	p.V207V	CACNA1S_ENST00000367338.3_Silent_p.V207V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	207					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)	p.V207V(1)		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)	CATAGATGATGACCATAAAGA	0.562																																						uc001gvv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(619-621)GTC>GTG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						104.0	87.0	93.0					1																	201060841		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.chr1:201060841G>C	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.621C>G	1.37:g.201060841G>C							p.V207V	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			5	848	-			207			Helical; Name=S5 of repeat I; (Potential).|I.		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.621C>G	CCDS1407.1																																																																																				0.562	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069		14	45	0	0	0	0.105934	0	14	45		
PTPN7	5778	broad.mit.edu	37	1	202124738	202124738	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:202124738C>T	ENST00000308986.5	-	5	522		c.e5-1		PTPN7_ENST00000492977.1_Splice_Site|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000367279.4_Splice_Site|PTPN7_ENST00000543735.1_Splice_Site|PTPN7_ENST00000309017.3_Splice_Site			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTCTGGGGATCTAGGAAATAA	0.527																																						uc001gxm.1		NaN																	1	Unknown(1)		urinary_tract(1)	skin(1)	1						c.e5-1		protein tyrosine phosphatase, non-receptor type							60.0	55.0	57.0					1																	202124738		2203	4300	6503	SO:0001630	splice_region_variant	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202124738C>T	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.392-1G>A	1.37:g.202124738C>T						PTPN7_uc001gxl.1_Splice_Site_p.N170_splice|PTPN7_uc001gxn.1_Splice_Site_p.N131_splice|PTPN7_uc010ppv.1_Splice_Site|PTPN7_uc010ppw.1_Splice_Site_p.N79_splice|PTPN7_uc010ppx.1_Splice_Site_p.N205_splice|PTPN7_uc010ppy.1_Intron|PTPN7_uc001gxo.1_Splice_Site_p.N83_splice	p.N131_splice	NM_002832	NP_002823	P35236	PTN7_HUMAN			5	523	-								B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Splice_Site	SNP	ENST00000308986.5	37	c.392_splice		.	.	.	.	.	.	.	.	.	.	C	23.6	4.440487	0.83993	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000477625;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000435759;ENST00000486116	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8477	0.92213	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN7	200391361	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.900000	0.75687	2.449000	0.82847	0.655000	0.94253	.		0.527	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_002832	Intron	7	20	0	0	0	0.047766	0	7	20		
C4BPA	722	broad.mit.edu	37	1	207300089	207300089	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:207300089T>A	ENST00000367070.3	+	7	932	c.738T>A	c.(736-738)caT>caA	p.H246Q		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	246	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.H246Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ATGTTTCACATGGGGAAATGG	0.378																																						uc001hfo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(736-738)CAT>CAA		complement component 4 binding protein, alpha							128.0	125.0	126.0					1																	207300089		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207300089T>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.738T>A	1.37:g.207300089T>A	ENSP00000356037:p.His246Gln						p.H246Q	NM_000715	NP_000706	P04003	C4BPA_HUMAN			7	932	+			246			Sushi 4.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.738T>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844224	0.32606	.	.	ENSG00000123838	ENST00000367070	T	0.66995	-0.24	5.66	4.46	0.54185	Complement control module (2);Sushi/SCR/CCP (3);	0.772495	0.12050	N	0.504224	T	0.59662	0.2210	L	0.48877	1.53	0.21473	N	0.999676	B	0.26318	0.146	B	0.29663	0.105	T	0.51671	-0.8676	10	0.40728	T	0.16	.	9.149	0.36951	0.0:0.0:0.1838:0.8162	.	246	P04003	C4BPA_HUMAN	Q	246	ENSP00000356037:H246Q	ENSP00000356037:H246Q	H	+	3	2	C4BPA	205366712	1.000000	0.71417	0.134000	0.22075	0.026000	0.11368	2.570000	0.45981	2.164000	0.68074	0.524000	0.50904	CAT		0.378	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3				30	80	0	0	0	0.069456	0	30	80		
PTPN14	5784	broad.mit.edu	37	1	214557171	214557171	+	Missense_Mutation	SNP	G	G	A	rs202055949	byFrequency	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:214557171G>A	ENST00000366956.5	-	13	2221	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	676					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.P676L(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTCCTCGGGCGGTCCCTGCTC	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		15472	0.001		0.0	False		,,,				2504	0.001				Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2026-2028)CCG>CTG		protein tyrosine phosphatase, non-receptor type							41.0	41.0	41.0					1																	214557171		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557171G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2027C>T	1.37:g.214557171G>A	ENSP00000355923:p.Pro676Leu					PTPN14_uc010pty.1_Missense_Mutation_p.P577L	p.P676L	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2298	-			676					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2027C>T	CCDS1514.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.470	-0.322018	0.05386	.	.	ENSG00000152104	ENST00000366956	T	0.66995	-0.24	4.68	2.47	0.30058	.	0.603639	0.17396	N	0.175728	T	0.47857	0.1468	L	0.36672	1.1	0.43145	D	0.994905	B	0.27700	0.186	B	0.14578	0.011	T	0.41928	-0.9481	10	0.37606	T	0.19	.	3.8576	0.08982	0.0979:0.1173:0.5557:0.229	.	676	Q15678	PTN14_HUMAN	L	676	ENSP00000355923:P676L	ENSP00000355923:P676L	P	-	2	0	PTPN14	212623794	0.333000	0.24731	0.245000	0.24217	0.003000	0.03518	1.531000	0.36018	0.931000	0.37242	0.563000	0.77884	CCG		0.632	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2		NM_005401		16	27	0	0	0	0.028581	0	16	27		
H3F3A	3020	broad.mit.edu	37	1	226252162	226252162	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:226252162A>G	ENST00000366813.1	+	1	485	c.110A>G	c.(109-111)aAg>aGg	p.K37R	RP11-396C23.4_ENST00000609423.1_RNA|H3F3A_ENST00000366815.3_Missense_Mutation_p.K37R|H3F3A_ENST00000366814.3_Missense_Mutation_p.K37R|H3F3A_ENST00000366816.1_Missense_Mutation_p.K37R			P84243	H33_HUMAN	H3 histone, family 3A	37					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.K37R(1)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GGAGGGGTGAAGAAACCTCAT	0.448			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hpw.2		NaN		Dom	yes		1	1q42.12	3020		"""H3 histone, family 3A"""			O					1	Substitution - Missense(1)		urinary_tract(1)		0						c.(109-111)AAG>AGG		H3 histone, family 3B							31.0	34.0	33.0					1																	226252162		2201	4298	6499	SO:0001583	missense	3020				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	g.chr1:226252162A>G	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"""Histones / Replication-independent"""	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.110A>G	1.37:g.226252162A>G	ENSP00000355778:p.Lys37Arg		OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2311	H3F3A_uc010pvl.1_Missense_Mutation_p.K37R	p.K37R	NM_005324	NP_005315	P84243	H33_HUMAN		GBM - Glioblastoma multiforme(131;0.203)	2	225	+	Breast(184;0.179)		37					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000366813.1	37	c.110A>G	CCDS1550.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755935	0.31137	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366814;ENST00000366813	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.32	4.32	0.51571	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	.	.	.	0.54753	D	0.999984	D;B	0.69078	0.997;0.003	D;B	0.73380	0.98;0.009	T	0.75698	-0.3227	9	0.66056	D	0.02	.	13.4389	0.61101	1.0:0.0:0.0:0.0	.	37;37	B4DEB1;P84243	.;H33_HUMAN	R	37	ENSP00000355781:K37R;ENSP00000355780:K37R;ENSP00000355779:K37R;ENSP00000355778:K37R	ENSP00000355778:K37R	K	+	2	0	H3F3A	224318785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.290000	0.78711	1.712000	0.51347	0.533000	0.62120	AAG		0.448	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1		NM_002107		9	28	0	0	0	0.047766	0	9	28		
PSEN2	5664	broad.mit.edu	37	1	227071519	227071519	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:227071519G>A	ENST00000366783.3	+	5	691	c.255G>A	c.(253-255)gcG>gcA	p.A85A	PSEN2_ENST00000366782.1_Silent_p.A118A|PSEN2_ENST00000391872.2_Silent_p.A118A|PSEN2_ENST00000422240.2_Silent_p.A85A|PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000340188.4_Silent_p.A85A	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		19	50	0	0	0	0.049695	0	19	50		
BMI1	648	broad.mit.edu	37	10	22616891	22616891	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:22616891C>G	ENST00000376663.3	+	6	834	c.329C>G	c.(328-330)tCt>tGt	p.S110C	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.S253C	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	110					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)	p.S110C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GCCAATGGCTCTAATGAAGAT	0.308																																						uc001irh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(328-330)TCT>TGT		BMI1 polycomb ring finger oncogene							82.0	90.0	87.0					10																	22616891		2201	4294	6495	SO:0001583	missense	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22616891C>G	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.329C>G	10.37:g.22616891C>G	ENSP00000365851:p.Ser110Cys					BMI1_uc009xkg.2_Missense_Mutation_p.S253C	p.S110C	NM_005180	NP_005171	P35226	BMI1_HUMAN			6	968	+			110					Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	ENST00000376663.3	37	c.329C>G	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200176	0.79015	.	.	ENSG00000168283	ENST00000417470;ENST00000376663;ENST00000442508;ENST00000456675	T;T	0.35236	1.32;1.79	6.02	6.02	0.97574	.	0.101930	0.64402	D	0.000001	T	0.61850	0.2380	M	0.77406	2.37	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61201	0.885;0.885	T	0.63422	-0.6641	10	0.87932	D	0	-14.2862	20.1511	0.98086	0.0:1.0:0.0:0.0	.	110;110	Q5U0M5;P35226	.;BMI1_HUMAN	C	110;110;110;92	ENSP00000365851:S110C;ENSP00000397912:S110C	ENSP00000365851:S110C	S	+	2	0	BMI1	22656897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.455000	0.80726	2.865000	0.98341	0.655000	0.94253	TCT		0.308	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1		NM_005180		15	63	0	0	0	0.028581	0	15	63		
ARMC3	219681	broad.mit.edu	37	10	23321935	23321935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:23321935C>T	ENST00000298032.5	+	18	2476	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	ARMC3_ENST00000409983.3_Nonsense_Mutation_p.R791*|ARMC3_ENST00000376528.4_Nonsense_Mutation_p.R535*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	798						extracellular vesicular exosome (GO:0070062)		p.R798*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTCTACCATCGAGCTTTGCT	0.363																																						uc001irm.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(2392-2394)CGA>TGA		armadillo repeat containing 3							122.0	115.0	117.0					10																	23321935		2203	4300	6503	SO:0001587	stop_gained	219681						binding	g.chr10:23321935C>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2392C>T	10.37:g.23321935C>T	ENSP00000298032:p.Arg798*					ARMC3_uc010qcv.1_Nonsense_Mutation_p.R791*|ARMC3_uc010qcw.1_Nonsense_Mutation_p.R535*	p.R798*	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			18	2475	+			798					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Nonsense_Mutation	SNP	ENST00000298032.5	37	c.2392C>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	39	7.296235	0.98192	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	.	.	.	5.47	4.53	0.55603	.	0.277723	0.33364	N	0.004993	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7523	8.3381	0.32228	0.1898:0.7222:0.0:0.0881	.	.	.	.	X	798;791;535	.	ENSP00000298032:R798X	R	+	1	2	ARMC3	23361941	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	2.504000	0.45416	1.356000	0.45884	0.555000	0.69702	CGA		0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2		NM_173081		20	43	0	0	0	0.076483	0	20	43		
RASGEF1A	221002	broad.mit.edu	37	10	43701441	43701441	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:43701441C>T	ENST00000395809.1	-	2	2630	c.124G>A	c.(124-126)Gat>Aat	p.D42N	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.D42N|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.D50N|RASGEF1A_ENST00000472864.1_5'Flank			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	42	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.D42N(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						AGGTGTCCATCTTGGAAGATG	0.647																																						uc001jap.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(124-126)GAT>AAT		RasGEF domain family, member 1A							63.0	53.0	57.0					10																	43701441		2202	4300	6502	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43701441C>T	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.124G>A	10.37:g.43701441C>T	ENSP00000379154:p.Asp42Asn					RASGEF1A_uc001jao.1_Missense_Mutation_p.D50N	p.D42N	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN			2	205	-			42			N-terminal Ras-GEF.		Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.124G>A	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	C	35	5.482003	0.96307	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.31247	1.5;1.5;1.5	5.49	5.49	0.81192	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.256475	0.33382	N	0.004979	T	0.40546	0.1121	L	0.37507	1.11	0.54753	D	0.99998	P;D	0.53312	0.589;0.959	B;P	0.54346	0.145;0.749	T	0.03840	-1.0999	10	0.33141	T	0.24	.	19.3694	0.94479	0.0:1.0:0.0:0.0	.	42;50	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	N	50;42;42	ENSP00000363583:D50N;ENSP00000379155:D42N;ENSP00000379154:D42N	ENSP00000363583:D50N	D	-	1	0	RASGEF1A	43021447	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.305000	0.78891	2.590000	0.87494	0.655000	0.94253	GAT		0.647	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1		NM_145313		10	12	0	0	0	0.058154	0	10	12		
ASAH2	56624	broad.mit.edu	37	10	51974561	51974561	+	Missense_Mutation	SNP	C	C	T	rs549196716		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:51974561C>T	ENST00000395526.4	-	8	1081	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	ASAH2_ENST00000443575.1_Missense_Mutation_p.R203H|ASAH2_ENST00000447815.1_Missense_Mutation_p.R361H|ASAH2_ENST00000329428.6_Missense_Mutation_p.R342H	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	361					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)	p.R342H(1)|p.R361H(1)		large_intestine(1)|lung(9)|urinary_tract(1)	11						GTTGATGCAACGTGGTCCAAG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		12025	0.0		0.001	False		,,,				2504	0.0					uc001jjd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1081-1083)CGT>CAT		N-acylsphingosine amidohydrolase 2 isoform a							64.0	40.0	48.0					10																	51974561		2202	4293	6495	SO:0001583	missense	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:51974561C>T	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.1082G>A	10.37:g.51974561C>T	ENSP00000378897:p.Arg361His					ASAH2_uc009xos.2_Missense_Mutation_p.R361H	p.R361H	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN			8	1082	-			361			Lumenal (Potential).		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.1082G>A	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	C	6.257	0.415597	0.11870	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000443575;ENST00000329428	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.26	-2.01	0.07410	.	0.739215	0.13790	N	0.362544	T	0.11922	0.0290	N	0.00879	-1.12	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.36261	-0.9755	10	0.14252	T	0.57	.	9.5371	0.39229	0.0:0.4674:0.0:0.5326	.	361;361	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	H	361;361;203;342	ENSP00000378897:R361H;ENSP00000388206:R361H;ENSP00000392766:R203H;ENSP00000329886:R342H	ENSP00000329886:R342H	R	-	2	0	ASAH2	51644567	0.000000	0.05858	0.051000	0.19133	0.884000	0.51177	-0.097000	0.11042	-0.315000	0.08703	-1.006000	0.02489	CGT		0.448	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3		NM_019893		19	28	0	0	0	0.069288	0	19	28		
DDIT4	54541	broad.mit.edu	37	10	74034918	74034918	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:74034918C>T	ENST00000307365.3	+	3	872	c.671C>T	c.(670-672)tCg>tTg	p.S224L	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	224					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)		p.S224L(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CTGTACAGCTCGGAACAGCTG	0.567											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jsx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(670-672)TCG>TTG		RTP801							26.0	25.0	26.0					10																	74034918		2203	4298	6501	SO:0001583	missense	54541				apoptosis			g.chr10:74034918C>T	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.671C>T	10.37:g.74034918C>T	ENSP00000307305:p.Ser224Leu		OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149		p.S224L	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN			3	873	+			224					Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	c.671C>T	CCDS7315.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256317	0.80246	.	.	ENSG00000168209	ENST00000307365	T	0.57595	0.39	5.21	5.21	0.72293	.	0.129722	0.53938	D	0.000043	T	0.63721	0.2535	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.56360	-0.7992	10	0.16420	T	0.52	-16.744	18.7735	0.91901	0.0:1.0:0.0:0.0	.	224	Q9NX09	DDIT4_HUMAN	L	224	ENSP00000307305:S224L	ENSP00000307305:S224L	S	+	2	0	DDIT4	73704924	1.000000	0.71417	0.945000	0.38365	0.756000	0.42949	7.413000	0.80104	2.419000	0.82065	0.563000	0.77884	TCG		0.567	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1		NM_019058		5	10	0	0	0	0.014758	0	5	10		
CYP26A1	1592	broad.mit.edu	37	10	94836820	94836820	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:94836820G>A	ENST00000224356.4	+	7	1298	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	CYP26A1_ENST00000371531.1_Missense_Mutation_p.R349Q|CYP26A1_ENST00000394139.1_Missense_Mutation_p.R349Q	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	418					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.R349Q(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	AATCCTGACCGATTCATGCTG	0.448																																						uc001kil.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(1252-1254)CGA>CAA		cytochrome P450, family 26, subfamily A,							100.0	90.0	94.0					10																	94836820		2203	4300	6503	SO:0001583	missense	1592				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94836820G>A	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.1253G>A	10.37:g.94836820G>A	ENSP00000224356:p.Arg418Gln					CYP26A1_uc001kik.1_Missense_Mutation_p.R349Q|CYP26A1_uc001kim.1_Missense_Mutation_p.R316Q	p.R418Q	NM_000783	NP_000774	O43174	CP26A_HUMAN			7	1298	+		Colorectal(252;0.122)	418					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.1253G>A	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516140	0.85495	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	D;D;D	0.90444	-2.67;-2.67;-2.67	5.49	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.96497	0.8857	H	0.94847	3.59	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97554	1.0094	10	0.87932	D	0	-7.0858	14.4934	0.67667	0.0699:0.0:0.9301:0.0	.	349;418	B3KNI4;O43174	.;CP26A_HUMAN	Q	349;418;349	ENSP00000360586:R349Q;ENSP00000224356:R418Q;ENSP00000377695:R349Q	ENSP00000224356:R418Q	R	+	2	0	CYP26A1	94826810	1.000000	0.71417	0.820000	0.32676	0.954000	0.61252	9.657000	0.98554	1.563000	0.49615	0.650000	0.86243	CGA		0.448	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3				17	51	0	0	0	0.0333	0	17	51		
CYP2E1	1571	broad.mit.edu	37	10	135350733	135350733	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:135350733C>T	ENST00000463117.2	+	9	1406	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.F378F			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	378					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.F378F(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ACACCATTTTCAGAGGATACC	0.542									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(3)	3						c.(1132-1134)TTC>TTT		cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						178.0	120.0	139.0					10																	135350733		2203	4300	6503	SO:0001819	synonymous_variant	1571	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135350733C>T	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1134C>T	10.37:g.135350733C>T						CYP2E1_uc001lnk.1_Silent_p.F241F|CYP2E1_uc009ybl.1_Silent_p.F179F|CYP2E1_uc009ybm.1_Silent_p.F32F|CYP2E1_uc001lnl.1_Silent_p.F179F	p.F378F	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	1167	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	378					Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	ENST00000463117.2	37	c.1134C>T	CCDS7686.1																																																																																				0.542	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2		NM_000773		19	27	0	0	0	0.055883	0	19	27		
SMPD1	6609	broad.mit.edu	37	11	6413286	6413286	+	Missense_Mutation	SNP	C	C	T	rs387906289|rs142476839		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:6413286C>T	ENST00000342245.4	+	2	1159	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	SMPD1_ENST00000356761.2_Missense_Mutation_p.P331S|SMPD1_ENST00000527275.1_Missense_Mutation_p.P330S|SMPD1_ENST00000299397.3_Missense_Mutation_p.P331S|SMPD1_ENST00000533196.1_3'UTR	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	329					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.P331S(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	TAGCTTCCCTCCCCCCTTCAT	0.612																																						uc001mcw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(991-993)CCC>TCC		sphingomyelin phosphodiesterase 1, acid	Desipramine(DB01151)	C	SER/PRO,SER/PRO	0,4402		0,0,2201	77.0	70.0	72.0		991,988	4.9	1.0	11	dbSNP_134	72	3,8589	3.0+/-9.4	0,3,4293	yes	missense,missense	SMPD1	NM_000543.4,NM_001007593.2	74,74	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	331/632,330/631	6413286	3,12991	2201	4296	6497	SO:0001583	missense	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6413286C>T	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.991C>T	11.37:g.6413286C>T	ENSP00000340409:p.Pro331Ser					SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.P331S|SMPD1_uc009yew.2_Missense_Mutation_p.P330S	p.P331S	NM_000543	NP_000534	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1165	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	329					A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	c.991C>T	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523426	0.85600	0.0	3.49E-4	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	4.87	4.87	0.63330	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.92192	0.7524	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.997	D	0.93218	0.6606	10	0.72032	D	0.01	-19.6863	16.563	0.84570	0.0:1.0:0.0:0.0	.	330;331;329	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	S	331;331;331;330	ENSP00000299397:P331S;ENSP00000349203:P331S;ENSP00000340409:P331S;ENSP00000435350:P330S	ENSP00000299397:P331S	P	+	1	0	SMPD1	6369862	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.417000	0.80156	2.248000	0.74166	0.561000	0.74099	CCC		0.612	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1		NM_000543		13	25	0	0	0	0.024245	0	13	25		
OR10A6	390093	broad.mit.edu	37	11	7949563	7949563	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:7949563A>G	ENST00000309838.2	-	1	646	c.647T>C	c.(646-648)tTg>tCg	p.L216S		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L216S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATGTAAGACAAGAGTATCAA	0.438																																						uc010rbh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(646-648)TTG>TCG		olfactory receptor, family 10, subfamily A,							85.0	74.0	77.0					11																	7949563		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949563A>G	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.647T>C	11.37:g.7949563A>G	ENSP00000312470:p.Leu216Ser						p.L216S	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	647	-			216			Helical; Name=5; (Potential).		Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.647T>C	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	A	6.737	0.504826	0.12822	.	.	ENSG00000175393	ENST00000309838	T	0.38887	1.11	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31554	N	0.007446	T	0.43077	0.1231	N	0.20304	0.555	0.25186	N	0.990161	D	0.67145	0.996	D	0.70487	0.969	T	0.19257	-1.0311	10	0.49607	T	0.09	.	6.7324	0.23390	0.8954:0.0:0.1046:0.0	.	216	Q8NH74	O10A6_HUMAN	S	216	ENSP00000312470:L216S	ENSP00000312470:L216S	L	-	2	0	OR10A6	7906139	0.005000	0.15991	0.892000	0.35008	0.076000	0.17211	2.280000	0.43443	1.985000	0.57927	0.533000	0.62120	TTG		0.438	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1		NM_001004461		18	43	0	0	0	0.043863	0	18	43		
BEST1	7439	broad.mit.edu	37	11	61727388	61727388	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:61727388A>G	ENST00000378043.4	+	9	1616	c.973A>G	c.(973-975)Atg>Gtg	p.M325V	FTH1_ENST00000529191.1_Silent_p.H42H|BEST1_ENST00000378042.3_Missense_Mutation_p.M238V|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000526988.1_Silent_p.R286R|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.M265V|BEST1_ENST00000301774.9_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	325			M -> T (in ARB). {ECO:0000269|PubMed:18179881}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.M265V(1)|p.M325V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TGTGGATGAGATGCACCAGGA	0.587																																						uc001nss.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(973-975)ATG>GTG		bestrophin 1 isoform 1							74.0	62.0	66.0					11																	61727388		2202	4299	6501	SO:0001583	missense	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61727388A>G	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.973A>G	11.37:g.61727388A>G	ENSP00000367282:p.Met325Val					BEST1_uc010rlq.1_Silent_p.R332R|BEST1_uc010rlr.1_Intron|BEST1_uc010rls.1_Intron|BEST1_uc001nsr.2_Missense_Mutation_p.M265V|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.M265V|BEST1_uc001nst.2_Missense_Mutation_p.M238V|BEST1_uc010rlu.1_Silent_p.R286R|BEST1_uc010rlv.1_Missense_Mutation_p.M219V	p.M325V	NM_004183	NP_004174	O76090	BEST1_HUMAN			9	1553	+			325		M -> T (in ARB).	Cytoplasmic (Potential).		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	c.973A>G	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425976	0.83667	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000449131	D;D;D	0.97114	-4.25;-4.22;-4.23	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	M	0.89287	3.02	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.998	D;P;D	0.66084	0.941;0.874;0.941	D	0.99372	1.0920	10	0.72032	D	0.01	-33.5146	14.2294	0.65882	1.0:0.0:0.0:0.0	.	238;325;265	O76090-4;O76090;O76090-3	.;BEST1_HUMAN;.	V	325;238;265	ENSP00000367282:M325V;ENSP00000367281:M238V;ENSP00000399709:M265V	ENSP00000367281:M238V	M	+	1	0	BEST1	61483964	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.176000	0.94839	1.905000	0.55150	0.460000	0.39030	ATG		0.587	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1		NM_004183		2	7	0	0	0	0.004672	0	2	7		
CCDC87	55231	broad.mit.edu	37	11	66359214	66359214	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:66359214G>A	ENST00000333861.3	-	1	1340	c.1273C>T	c.(1273-1275)Cac>Tac	p.H425Y	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	425					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.H425Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGCTGTGGGTGAAGTGGAAAG	0.552																																						uc001oiq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1273-1275)CAC>TAC		coiled-coil domain containing 87							33.0	38.0	36.0					11																	66359214		2199	4293	6492	SO:0001583	missense	55231							g.chr11:66359214G>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1273C>T	11.37:g.66359214G>A	ENSP00000328487:p.His425Tyr					CCS_uc001oir.2_5'Flank	p.H425Y	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	1341	-			425					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1273C>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	4.399	0.073655	0.08485	.	.	ENSG00000182791	ENST00000333861	T	0.35421	1.31	5.3	1.27	0.21489	.	1.503340	0.04404	N	0.364843	T	0.32763	0.0840	L	0.53249	1.67	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.17561	-1.0365	10	0.23302	T	0.38	.	5.7218	0.17990	0.1719:0.3285:0.4996:0.0	.	425	Q9NVE4	CCD87_HUMAN	Y	425	ENSP00000328487:H425Y	ENSP00000328487:H425Y	H	-	1	0	CCDC87	66115790	0.008000	0.16893	0.000000	0.03702	0.203000	0.24098	0.885000	0.28227	0.079000	0.16929	0.563000	0.77884	CAC		0.552	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1		NM_018219		18	39	0	0	0	0.038395	0	18	39		
MSANTD4	84437	broad.mit.edu	37	11	105880796	105880796	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:105880796T>C	ENST00000301919.4	-	3	1919	c.504A>G	c.(502-504)atA>atG	p.I168M	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	168						nucleus (GO:0005634)		p.I168M(1)									TGGAATCTGGTATGACGGATG	0.393																																						uc001piy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(502-504)ATA>ATG		hypothetical protein LOC84437							95.0	100.0	99.0					11																	105880796		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880796T>C	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.504A>G	11.37:g.105880796T>C	ENSP00000304713:p.Ile168Met					KIAA1826_uc001piz.2_Missense_Mutation_p.I168M	p.I168M	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)	3	677	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	168					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.504A>G	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	T	9.837	1.189954	0.21954	.	.	ENSG00000170903	ENST00000301919;ENST00000530788	.	.	.	5.78	-1.59	0.08453	.	0.232045	0.39985	N	0.001216	T	0.09512	0.0234	N	0.00926	-1.1	0.31090	N	0.71091	B	0.02656	0.0	B	0.06405	0.002	T	0.09618	-1.0666	9	0.39692	T	0.17	-9.1144	4.7033	0.12837	0.1439:0.1095:0.5835:0.1632	.	168	Q8NCY6	K1826_HUMAN	M	168	.	ENSP00000304713:I168M	I	-	3	3	KIAA1826	105386006	0.279000	0.24239	0.997000	0.53966	0.923000	0.55619	-0.678000	0.05209	-0.190000	0.10465	0.402000	0.26972	ATA		0.393	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1		NM_032424		35	57	0	0	0	0.064281	0	35	57		
KMT2A	4297	broad.mit.edu	37	11	118374132	118374132	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:118374132G>A	ENST00000389506.5	+	27	7516	c.7516G>A	c.(7516-7518)Gaa>Aaa	p.E2506K	KMT2A_ENST00000354520.4_Missense_Mutation_p.E2468K|KMT2A_ENST00000534358.1_Missense_Mutation_p.E2509K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2506					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E2509K(1)|p.E2506K(1)|p.E2509Q(1)|p.E2506Q(1)									CATGCAAGTAGAAGGATCTGC	0.448																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		4	Substitution - Missense(4)		urinary_tract(4)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(7516-7518)GAA>AAA		myeloid/lymphoid or mixed-lineage leukemia							71.0	69.0	70.0					11																	118374132		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374132G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7516G>A	11.37:g.118374132G>A	ENSP00000374157:p.Glu2506Lys					MLL_uc001ptb.2_Missense_Mutation_p.E2509K	p.E2506K	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	7539	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2506					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.7516G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836896	0.50951	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82433	-1.61;-1.61;-1.58	5.85	5.85	0.93711	.	0.169560	0.50627	D	0.000101	T	0.76659	0.4018	N	0.24115	0.695	0.44030	D	0.996756	P;P	0.49090	0.919;0.919	B;B	0.42692	0.395;0.395	T	0.74870	-0.3517	10	0.27082	T	0.32	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	2509;2506	E9PQG7;Q03164	.;MLL1_HUMAN	K	2509;2506;2468;1416	ENSP00000436786:E2509K;ENSP00000374157:E2506K;ENSP00000346516:E2468K	ENSP00000346516:E2468K	E	+	1	0	MLL	117879342	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.159000	0.77483	2.767000	0.95098	0.655000	0.94253	GAA		0.448	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		13	31	0	0	0	0.105934	0	13	31		
KMT2A	4297	broad.mit.edu	37	11	118374590	118374590	+	Missense_Mutation	SNP	G	G	C	rs142807735		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:118374590G>C	ENST00000389506.5	+	27	7974	c.7974G>C	c.(7972-7974)aaG>aaC	p.K2658N	KMT2A_ENST00000354520.4_Missense_Mutation_p.K2620N|KMT2A_ENST00000534358.1_Missense_Mutation_p.K2661N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2658					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.K2661N(1)|p.K2658N(1)									AGCGAGGCAAGAGATCAGCTG	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21059	0.0		0.0	False		,,,				2504	0.0					uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Missense(2)		urinary_tract(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(7972-7974)AAG>AAC		myeloid/lymphoid or mixed-lineage leukemia		G	ASN/LYS,ASN/LYS	4,4396	9.9+/-24.2	0,4,2196	87.0	78.0	81.0		7983,7974	4.1	1.0	11	dbSNP_134	81	0,8592		0,0,4296	yes	missense,missense	MLL	NM_001197104.1,NM_005933.3	94,94	0,4,6492	CC,CG,GG		0.0,0.0909,0.0308	possibly-damaging,possibly-damaging	2661/3973,2658/3970	118374590	4,12988	2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374590G>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7974G>C	11.37:g.118374590G>C	ENSP00000374157:p.Lys2658Asn					MLL_uc001ptb.2_Missense_Mutation_p.K2661N	p.K2658N	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	7997	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2658					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.7974G>C	CCDS31686.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.08	1.532515	0.27387	9.09E-4	0.0	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.88586	-2.4;-2.4;-2.34	5.95	4.1	0.47936	.	0.052377	0.64402	D	0.000001	D	0.87216	0.6122	L	0.59436	1.845	0.48696	D	0.999695	P;P	0.48503	0.911;0.911	P;P	0.45276	0.475;0.475	D	0.86274	0.1663	10	0.87932	D	0	.	9.4487	0.38712	0.2723:0.0:0.7277:0.0	.	2661;2658	E9PQG7;Q03164	.;MLL1_HUMAN	N	2661;2658;2620;1568	ENSP00000436786:K2661N;ENSP00000374157:K2658N;ENSP00000346516:K2620N	ENSP00000346516:K2620N	K	+	3	2	MLL	117879800	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.685000	0.61693	0.870000	0.35726	-0.136000	0.14681	AAG		0.443	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		9	31	0	0	0	0.069234	0	9	31		
KMT2A	4297	broad.mit.edu	37	11	118375131	118375131	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:118375131G>A	ENST00000389506.5	+	27	8515	c.8515G>A	c.(8515-8517)Gat>Aat	p.D2839N	KMT2A_ENST00000354520.4_Missense_Mutation_p.D2801N|KMT2A_ENST00000534358.1_Missense_Mutation_p.D2842N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2839					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.D2842N(1)|p.D2839N(1)									TAACAACAGTGATGACTGTGG	0.448																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Missense(2)		urinary_tract(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(8515-8517)GAT>AAT		myeloid/lymphoid or mixed-lineage leukemia							99.0	95.0	96.0					11																	118375131		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118375131G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8515G>A	11.37:g.118375131G>A	ENSP00000374157:p.Asp2839Asn					MLL_uc001ptb.2_Missense_Mutation_p.D2842N	p.D2839N	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	8538	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2839					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.8515G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225175	0.58668	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.89617	-2.54;-2.54;-2.49	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.93216	0.7839	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.93034	0.6451	10	0.87932	D	0	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	2842;2839	E9PQG7;Q03164	.;MLL1_HUMAN	N	2842;2839;2801;1749	ENSP00000436786:D2842N;ENSP00000374157:D2839N;ENSP00000346516:D2801N	ENSP00000346516:D2801N	D	+	1	0	MLL	117880341	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.352000	0.97076	2.871000	0.98454	0.655000	0.94253	GAT		0.448	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		37	93	0	0	0	0.069456	0	37	93		
PUS7L	83448	broad.mit.edu	37	12	44124323	44124323	+	Silent	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr12:44124323T>C	ENST00000416848.2	-	9	2450	c.1962A>G	c.(1960-1962)caA>caG	p.Q654Q	PUS7L_ENST00000551923.1_Silent_p.Q654Q|PUS7L_ENST00000431332.3_Silent_p.Q341Q|PUS7L_ENST00000344862.5_Silent_p.Q654Q	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	654					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.Q654Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CTTCCATTAGTTGGTATGAGA	0.368																																						uc001rnq.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)	1						c.(1960-1962)CAA>CAG		pseudouridylate synthase 7 homolog (S.							174.0	160.0	165.0					12																	44124323		2203	4300	6503	SO:0001819	synonymous_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44124323T>C	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1962A>G	12.37:g.44124323T>C						PUS7L_uc001rnr.3_Silent_p.Q654Q|PUS7L_uc001rns.3_Silent_p.Q654Q|PUS7L_uc009zkb.2_Silent_p.Q341Q	p.Q654Q	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	9	2451	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	654					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	c.1962A>G	CCDS8743.1																																																																																				0.368	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1		NM_031292		34	92	0	0	0	0.074837	0	34	92		
SLC4A8	9498	broad.mit.edu	37	12	51868160	51868160	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr12:51868160C>T	ENST00000453097.2	+	15	2156	c.1939C>T	c.(1939-1941)Cac>Tac	p.H647Y	SLC4A8_ENST00000394856.1_Missense_Mutation_p.H594Y|SLC4A8_ENST00000358657.3_Missense_Mutation_p.H674Y|SLC4A8_ENST00000514353.3_Missense_Mutation_p.H594Y|SLC4A8_ENST00000535225.2_Missense_Mutation_p.H594Y	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.H647Y(2)|p.H594Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCCAAACAATCACACCCTCCA	0.458																																						uc001rys.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(3)|pancreas(1)|skin(1)	5						c.(1939-1941)CAC>TAC		solute carrier family 4, sodium bicarbonate							166.0	125.0	139.0					12																	51868160		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51868160C>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1939C>T	12.37:g.51868160C>T	ENSP00000405812:p.His647Tyr					SLC4A8_uc010sni.1_Missense_Mutation_p.H594Y|SLC4A8_uc001rym.2_Missense_Mutation_p.H594Y|SLC4A8_uc001ryn.2_Missense_Mutation_p.H594Y|SLC4A8_uc001ryo.2_Missense_Mutation_p.H594Y|SLC4A8_uc010snj.1_Missense_Mutation_p.H674Y|SLC4A8_uc001ryq.3_Missense_Mutation_p.H647Y|SLC4A8_uc001ryr.2_Missense_Mutation_p.H647Y|SLC4A8_uc010snk.1_Missense_Mutation_p.H594Y	p.H647Y	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	15	2117	+			647			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000453097.2	37	c.1939C>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	6.419	0.445449	0.12164	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	4.96	4.96	0.65561	Bicarbonate transporter, C-terminal (1);	0.302863	0.41712	D	0.000839	T	0.67221	0.2870	N	0.17474	0.49	0.32371	N	0.555797	P;B;P;B;B;P	0.39520	0.534;0.002;0.676;0.224;0.291;0.499	B;B;B;B;B;B	0.42692	0.212;0.001;0.395;0.106;0.064;0.3	T	0.75747	-0.3209	10	0.59425	D	0.04	.	12.2399	0.54536	0.0:0.7214:0.2786:0.0	.	594;674;594;647;647;647	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	Y	594;674;647;594;647;594;594	ENSP00000441520:H594Y;ENSP00000351483:H674Y;ENSP00000405812:H647Y;ENSP00000378325:H594Y;ENSP00000442561:H594Y	ENSP00000315789:H647Y	H	+	1	0	SLC4A8	50154427	0.285000	0.24296	0.978000	0.43139	0.984000	0.73092	1.428000	0.34892	2.756000	0.94617	0.655000	0.94253	CAC		0.458	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1		NM_004858		9	30	0	0	0	0.047766	0	9	30		
MYCBP2	23077	broad.mit.edu	37	13	77743819	77743819	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr13:77743819G>A	ENST00000544440.2	-	39	5728	c.5711C>T	c.(5710-5712)tCc>tTc	p.S1904F	MYCBP2_ENST00000407578.2_Missense_Mutation_p.S1942F|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1904F					MYC binding protein 2, E3 ubiquitin protein ligase									p.S1904F(2)|p.S1942F(1)		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)		AAACAGACTGGAAGAACTCAG	0.383																																						uc001vkf.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(5710-5712)TCC>TTC		MYC binding protein 2							75.0	79.0	77.0					13																	77743819		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77743819G>A	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.5711C>T	13.37:g.77743819G>A	ENSP00000444596:p.Ser1904Phe					MYCBP2_uc010aev.2_Missense_Mutation_p.S1308F	p.S1904F	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	40	5802	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1904						Missense_Mutation	SNP	ENST00000544440.2	37	c.5711C>T		.	.	.	.	.	.	.	.	.	.	G	25.4	4.632848	0.87660	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.33654	1.41;1.4;1.41	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	L	0.49126	1.545	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.58662	-0.7597	10	0.87932	D	0	.	18.5628	0.91107	0.0:0.0:1.0:0.0	.	1904	O75592	MYCB2_HUMAN	F	1904;1942;1904	ENSP00000349892:S1904F;ENSP00000384288:S1942F;ENSP00000444596:S1904F	ENSP00000349892:S1904F	S	-	2	0	MYCBP2	76641820	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.722000	0.98770	2.448000	0.82819	0.650000	0.86243	TCC		0.383	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		18	66	0	0	0	0.043863	0	18	66		
RTN1	6252	broad.mit.edu	37	14	60212834	60212834	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr14:60212834C>T	ENST00000267484.5	-	2	942	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	203					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.E203K(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTCACCTCCTCGGGTCTGGTT	0.453																																						uc001xen.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)	4						c.(607-609)GAG>AAG		reticulon 1 isoform A							252.0	245.0	248.0					14																	60212834		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212834C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.607G>A	14.37:g.60212834C>T	ENSP00000267484:p.Glu203Lys						p.E203K	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	816	-			203					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.607G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538917	0.27475	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.26067	1.76	5.7	3.83	0.44106	.	0.534168	0.19632	N	0.109655	T	0.19927	0.0479	L	0.38531	1.155	0.30443	N	0.775981	B	0.23128	0.08	B	0.12156	0.007	T	0.09862	-1.0655	10	0.54805	T	0.06	.	9.873	0.41187	0.0:0.668:0.2622:0.0698	.	203	Q16799	RTN1_HUMAN	K	203;129	ENSP00000267484:E203K	ENSP00000267484:E203K	E	-	1	0	RTN1	59282587	0.993000	0.37304	0.779000	0.31741	0.175000	0.22909	2.318000	0.43779	0.718000	0.32166	0.557000	0.71058	GAG		0.453	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2				70	138	0	0	0	0.048971	0	70	138		
SNX22	79856	broad.mit.edu	37	15	64446590	64446590	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr15:64446590G>C	ENST00000325881.4	+	7	524	c.465G>C	c.(463-465)tcG>tcC	p.S155S	PPIB_ENST00000558492.1_5'Flank	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	155					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.S155S(1)		large_intestine(3)|lung(1)|urinary_tract(2)	6						CCACAGAGTCGCTGCCCAACG	0.602											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002anc.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(463-465)TCG>TCC		sorting nexin 22							96.0	92.0	94.0					15																	64446590		2203	4300	6503	SO:0001819	synonymous_variant	79856				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr15:64446590G>C	AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.465G>C	15.37:g.64446590G>C			OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076	SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	p.S155S	NM_024798	NP_079074	Q96L94	SNX22_HUMAN			7	524	+			155					Q8WUS9|Q9H844	Silent	SNP	ENST00000325881.4	37	c.465G>C	CCDS10190.1																																																																																				0.602	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2		NM_024798		19	111	0	0	0	0.049695	0	19	111		
SNX33	257364	broad.mit.edu	37	15	75941596	75941596	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr15:75941596T>G	ENST00000308527.5	+	1	1350	c.153T>G	c.(151-153)ttT>ttG	p.F51L	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	51	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.F51L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CAGGGCTCTTTCCTGCCTCTT	0.587																																						uc002bau.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(151-153)TTT>TTG		sorting nexin 33							82.0	82.0	82.0					15																	75941596		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75941596T>G	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.153T>G	15.37:g.75941596T>G	ENSP00000311427:p.Phe51Leu					IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank	p.F51L	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN			1	249	+			51			SH3.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.153T>G	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092560	0.76756	.	.	ENSG00000173548	ENST00000308527	T	0.44881	0.91	5.1	2.1	0.27182	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	M	0.68593	2.085	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.49707	-0.8911	10	0.39692	T	0.17	-1.9051	7.9136	0.29806	0.0:0.7126:0.0:0.2874	.	51	Q8WV41	SNX33_HUMAN	L	51	ENSP00000311427:F51L	ENSP00000311427:F51L	F	+	3	2	SNX33	73728651	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	1.529000	0.35996	0.278000	0.22164	0.528000	0.53228	TTT		0.587	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1		NM_153271		23	61	0	0	0	0.076483	0	23	61		
IFT140	9742	broad.mit.edu	37	16	1616196	1616196	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:1616196C>G	ENST00000426508.2	-	16	2230	c.1867G>C	c.(1867-1869)Gag>Cag	p.E623Q	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	623					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.E623Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GACAGCGTCTCTCTCCGATCA	0.428																																						uc002cmb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(1867-1869)GAG>CAG		intraflagellar transport 140							212.0	204.0	206.0					16																	1616196		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1616196C>G	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1867G>C	16.37:g.1616196C>G	ENSP00000406012:p.Glu623Gln					IFT140_uc002clz.2_Missense_Mutation_p.E274Q	p.E623Q	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			16	2229	-		Hepatocellular(780;0.219)	623					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.1867G>C	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362250	0.24684	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.68331	-0.32	5.29	2.09	0.27110	.	0.601203	0.18047	N	0.153412	T	0.55768	0.1941	L	0.34521	1.04	0.09310	N	1	B;B	0.24882	0.008;0.113	B;B	0.19946	0.008;0.027	T	0.41360	-0.9513	10	0.37606	T	0.19	.	16.1114	0.81266	0.0:0.6096:0.3904:0.0	.	623;348	Q96RY7;B4DR58	IF140_HUMAN;.	Q	623	ENSP00000406012:E623Q	ENSP00000380562:E623Q	E	-	1	0	IFT140	1556197	0.177000	0.23109	0.011000	0.14972	0.015000	0.08874	1.024000	0.30077	0.178000	0.19917	0.591000	0.81541	GAG		0.428	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2		NM_014714		57	135	0	0	0	0.048971	0	57	135		
C16orf59	80178	broad.mit.edu	37	16	2510687	2510687	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:2510687C>T	ENST00000361837.4	+	3	254	c.189C>T	c.(187-189)ccC>ccT	p.P63P	RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000569496.1_Silent_p.P63P|C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Silent_p.P63P	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	63								p.P63P(1)		lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GAGAGGACCCCCTTCCAGGTA	0.637																																						uc002cqh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(187-189)CCC>CCT		hypothetical protein LOC80178							27.0	30.0	29.0					16																	2510687		1988	4157	6145	SO:0001819	synonymous_variant	80178							g.chr16:2510687C>T	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.189C>T	16.37:g.2510687C>T						C16orf59_uc002cqf.1_Silent_p.P63P|C16orf59_uc002cqg.1_5'UTR|C16orf59_uc002cqi.2_5'UTR|C16orf59_uc010uwb.1_5'Flank	p.P63P	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN			3	220	+		Ovarian(90;0.17)	63					B4DXD7|Q96H61|Q9H872	Silent	SNP	ENST00000361837.4	37	c.189C>T	CCDS10468.2																																																																																				0.637	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3		NM_025108		12	16	0	0	0	0.09319	0	12	16		
CPPED1	55313	broad.mit.edu	37	16	12758794	12758794	+	Silent	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:12758794C>G	ENST00000381774.4	-	4	1134	c.894G>C	c.(892-894)ctG>ctC	p.L298L	CPPED1_ENST00000261660.4_3'UTR|CPPED1_ENST00000433677.2_Silent_p.L156L	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	298						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.L298L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CTTTCTCACTCAGCTCATCTA	0.478																																						uc002dca.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(892-894)CTG>CTC		calcineurin-like phosphoesterase domain							153.0	154.0	154.0					16																	12758794		1886	4120	6006	SO:0001819	synonymous_variant	55313						hydrolase activity|metal ion binding	g.chr16:12758794C>G	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.894G>C	16.37:g.12758794C>G						CPPED1_uc002dcb.3_Silent_p.L156L|CPPED1_uc002dbz.3_RNA	p.L298L	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			4	1005	-			298					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	c.894G>C	CCDS42120.1																																																																																				0.478	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2		NM_018340		26	43	0	0	0	0.034045	0	26	43		
KNOP1	400506	broad.mit.edu	37	16	19726111	19726111	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:19726111C>G	ENST00000219837.7	-	2	325	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	IQCK_ENST00000320394.6_5'Flank|AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	83	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E83Q(1)									GTCTCAGGTTCTACATGCTCC	0.522																																						uc002dgq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(247-249)GAA>CAA		hypothetical protein LOC400506							69.0	69.0	69.0					16																	19726111		2055	4207	6262	SO:0001583	missense	400506					nucleolus		g.chr16:19726111C>G	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.247G>C	16.37:g.19726111C>G	ENSP00000219837:p.Glu83Gln					IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank|IQCK_uc010vat.1_5'Flank|IQCK_uc010bwc.2_5'Flank|IQCK_uc010vau.1_5'Flank	p.E83Q	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN			2	262	-			83			Lys-rich.		O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	37	c.247G>C	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900444	0.52227	.	.	ENSG00000103550	ENST00000219837	T	0.26518	1.73	4.61	2.6	0.31112	.	1.309370	0.05122	N	0.490895	T	0.27731	0.0682	L	0.60455	1.87	0.09310	N	0.999999	B	0.24721	0.11	B	0.27715	0.082	T	0.29458	-1.0011	9	.	.	.	-7.2663	6.2226	0.20689	0.0:0.7093:0.189:0.1017	.	83	Q1ED39	CP088_HUMAN	Q	83	ENSP00000219837:E83Q	.	E	-	1	0	C16orf88	19633612	0.007000	0.16637	0.001000	0.08648	0.020000	0.10135	0.596000	0.24044	0.631000	0.30412	0.561000	0.74099	GAA		0.522	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2		NM_001012991		16	37	0	0	0	0.038395	0	16	37		
CHD9	80205	broad.mit.edu	37	16	53272307	53272307	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:53272307A>G	ENST00000398510.3	+	11	2773	c.2686A>G	c.(2686-2688)Att>Gtt	p.I896V	CHD9_ENST00000564845.1_Missense_Mutation_p.I896V|CHD9_ENST00000566029.1_Missense_Mutation_p.I896V|CHD9_ENST00000447540.1_Missense_Mutation_p.I896V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	896	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.I896V(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TATTCAATCAATTACATTCCT	0.358																																						uc002ehb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(2686-2688)ATT>GTT		chromodomain helicase DNA binding protein 9							102.0	95.0	97.0					16																	53272307		1828	4086	5914	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53272307A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2686A>G	16.37:g.53272307A>G	ENSP00000381522:p.Ile896Val					CHD9_uc002egy.2_Missense_Mutation_p.I896V|CHD9_uc002eha.1_Missense_Mutation_p.I896V|CHD9_uc002ehc.2_Missense_Mutation_p.I896V|CHD9_uc002ehf.2_Missense_Mutation_p.I10V|CHD9_uc002ehd.2_Missense_Mutation_p.I422V|CHD9_uc002ehe.1_Missense_Mutation_p.I10V	p.I896V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			11	2850	+		all_cancers(37;0.0212)	896			Helicase ATP-binding.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.2686A>G		.	.	.	.	.	.	.	.	.	.	A	16.19	3.052972	0.55218	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.94092	-3.35;-3.35	5.02	5.02	0.67125	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000020	D	0.93877	0.8041	L	0.31371	0.925	0.80722	D	1	B;P;P;P	0.47604	0.422;0.511;0.898;0.876	P;P;D;D	0.68192	0.644;0.526;0.956;0.927	D	0.93224	0.6611	10	0.34782	T	0.22	-15.4207	14.7523	0.69536	1.0:0.0:0.0:0.0	.	422;896;896;896	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	V	896;896;422	ENSP00000396345:I896V;ENSP00000381522:I896V	ENSP00000219084:I422V	I	+	1	0	CHD9	51829808	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.281000	0.95811	1.892000	0.54788	0.377000	0.23210	ATT		0.358	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134		18	32	0	0	0	0.049695	0	18	32		
IL34	146433	broad.mit.edu	37	16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	rs201277640		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000429149.2_Missense_Mutation_p.A208V	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0					uc002ezh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(622-624)GCG>GTG		interleukin 34 precursor		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96.0	105.0	102.0		620,623,623	-3.1	0.0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_uc002ezi.1_Missense_Mutation_p.A207V	p.A208V	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN			6	1006	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3		NM_152456		4	123	0	0	0	0.009096	0	4	123		
HPR	3250	broad.mit.edu	37	16	72110371	72110371	+	Silent	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:72110371C>G	ENST00000540303.2	+	5	470	c.438C>G	c.(436-438)ctC>ctG	p.L146L	HPR_ENST00000228226.8_Silent_p.L183L|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Silent_p.L146L	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	146	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.L146L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTAAAAATCTCTTCCTGAACC	0.478																																						uc002fby.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(436-438)CTC>CTG		haptoglobin-related protein precursor							65.0	46.0	52.0					16																	72110371		1978	4147	6125	SO:0001819	synonymous_variant	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110371C>G	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.438C>G	16.37:g.72110371C>G						TXNL4B_uc010cgl.2_Intron	p.L146L	NM_020995	NP_066275	P00739	HPTR_HUMAN			5	468	+		Ovarian(137;0.125)	146			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Silent	SNP	ENST00000540303.2	37	c.438C>G	CCDS42193.1																																																																																				0.478	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1		NM_020995		13	24	0	0	0	0.09319	0	13	24		
ELP5	23587	broad.mit.edu	37	17	7162148	7162148	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:7162148G>A	ENST00000396628.2	+	7	956	c.739G>A	c.(739-741)Gat>Aat	p.D247N	ELP5_ENST00000356683.2_3'UTR|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Missense_Mutation_p.D247N|ELP5_ENST00000574993.1_3'UTR|ELP5_ENST00000396627.2_Missense_Mutation_p.D247N	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	247					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)		p.D247N(1)									CCTACAGGTGGATCCCACAAC	0.502																																						uc002gfg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(739-741)GAT>AAT		S-phase 2 protein isoform 4							109.0	114.0	112.0					17																	7162148		2203	4300	6503	SO:0001583	missense	23587				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr17:7162148G>A	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.739G>A	17.37:g.7162148G>A	ENSP00000379869:p.Asp247Asn					C17orf81_uc002gfj.2_3'UTR|C17orf81_uc010cmb.2_3'UTR|C17orf81_uc002gfh.1_Missense_Mutation_p.D247N|C17orf81_uc002gfi.1_Missense_Mutation_p.D247N|C17orf81_uc002gfl.1_Intron	p.D247N	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN			8	846	+			247					A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	37	c.739G>A	CCDS11094.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789830	0.90367	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627	T;T;T	0.51574	0.7;0.7;0.7	5.81	4.81	0.61882	.	0.048924	0.85682	D	0.000000	T	0.59729	0.2215	L	0.58101	1.795	0.80722	D	1	D	0.60575	0.988	P	0.58266	0.836	T	0.62167	-0.6911	10	0.72032	D	0.01	-12.0965	14.0691	0.64849	0.0:0.0:0.849:0.151	.	247	Q8TE02	DERP6_HUMAN	N	247	ENSP00000346412:D247N;ENSP00000379869:D247N;ENSP00000379868:D247N	ENSP00000346412:D247N	D	+	1	0	C17orf81	7102872	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.412000	0.73303	2.745000	0.94114	0.655000	0.94253	GAT		0.502	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1		NM_015362		18	20	0	0	0	0.0333	0	18	20		
ELP5	23587	broad.mit.edu	37	17	7162193	7162193	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:7162193G>C	ENST00000396628.2	+	7	1001	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	ELP5_ENST00000356683.2_3'UTR|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Missense_Mutation_p.E262Q|ELP5_ENST00000574993.1_3'UTR|ELP5_ENST00000396627.2_Missense_Mutation_p.E262Q	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	262					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)		p.E262Q(1)									GTCCAAGAAAGAGAGAGAAGC	0.512																																						uc002gfg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(784-786)GAG>CAG		S-phase 2 protein isoform 4							116.0	117.0	117.0					17																	7162193		2203	4300	6503	SO:0001583	missense	23587				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr17:7162193G>C	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.784G>C	17.37:g.7162193G>C	ENSP00000379869:p.Glu262Gln					C17orf81_uc002gfj.2_3'UTR|C17orf81_uc010cmb.2_3'UTR|C17orf81_uc002gfh.1_Missense_Mutation_p.E262Q|C17orf81_uc002gfi.1_Missense_Mutation_p.E262Q|C17orf81_uc002gfl.1_Intron	p.E262Q	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN			8	891	+			262					A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	37	c.784G>C	CCDS11094.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086656	0.76642	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627	T;T;T	0.47177	0.85;0.85;0.85	5.81	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.61350	0.2340	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60000	-0.7348	10	0.51188	T	0.08	-7.2066	13.0276	0.58825	0.0801:0.0:0.9199:0.0	.	262	Q8TE02	DERP6_HUMAN	Q	262	ENSP00000346412:E262Q;ENSP00000379869:E262Q;ENSP00000379868:E262Q	ENSP00000346412:E262Q	E	+	1	0	C17orf81	7102917	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	4.753000	0.62183	2.745000	0.94114	0.655000	0.94253	GAG		0.512	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1		NM_015362		17	21	0	0	0	0.028581	0	17	21		
NCOR1	9611	broad.mit.edu	37	17	16022773	16022773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:16022773G>A	ENST00000268712.3	-	17	2136	c.1879C>T	c.(1879-1881)Cga>Tga	p.R627*	NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R518*|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R627*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	627	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				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)	p.R627*(1)		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)		TCTGTCCATCGAGAGGTCTCC	0.333																																						uc002gpo.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(1879-1881)CGA>TGA		nuclear receptor co-repressor 1							119.0	124.0	122.0					17																	16022773		2203	4300	6503	SO:0001587	stop_gained	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.chr17:16022773G>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.1879C>T	17.37:g.16022773G>A	ENSP00000268712:p.Arg627*					NCOR1_uc002gpn.2_Nonsense_Mutation_p.R627*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.R518*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.R518*	p.R627*	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	17	2119	-			627			SANT 2.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.1879C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	38	7.079291	0.98048	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	.	.	.	5.59	2.34	0.29019	.	0.414936	0.26373	N	0.024746	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6051	13.5103	0.61508	0.0:0.0:0.5893:0.4107	.	.	.	.	X	627;627;518;518	.	ENSP00000268712:R627X	R	-	1	2	NCOR1	15963498	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.727000	0.54984	0.237000	0.21200	0.655000	0.94253	CGA		0.333	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		31	38	0	0	0	0.086207	0	31	38		
EPN2	22905	broad.mit.edu	37	17	19216560	19216560	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:19216560C>A	ENST00000314728.5	+	7	1599	c.1115C>A	c.(1114-1116)cCt>cAt	p.P372H	EPN2_ENST00000575595.1_Missense_Mutation_p.P80H|EPN2_ENST00000571254.1_Missense_Mutation_p.P308H|EPN2_ENST00000347697.2_Missense_Mutation_p.P315H|EPN2_ENST00000395626.1_Missense_Mutation_p.P372H|EPN2_ENST00000395618.3_Missense_Mutation_p.P87H|EPN2_ENST00000395620.2_Missense_Mutation_p.P315H	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	372	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.P372H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCAGCGGCTCCTGCGAGTACT	0.657																																						uc002gvd.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1114-1116)CCT>CAT		epsin 2 isoform b							32.0	36.0	35.0					17																	19216560		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19216560C>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1115C>A	17.37:g.19216560C>A	ENSP00000320543:p.Pro372His					EPN2_uc010cql.1_Missense_Mutation_p.P81H|EPN2_uc002gve.3_Missense_Mutation_p.P315H|EPN2_uc002gvf.3_Missense_Mutation_p.P87H|EPN2_uc010vyo.1_Missense_Mutation_p.P80H|EPN2_uc002gvg.1_Missense_Mutation_p.P315H|EPN2_uc010vyp.1_Missense_Mutation_p.P308H|EPN2_uc010vyq.1_Missense_Mutation_p.P309H|EPN2_uc002gvh.1_Missense_Mutation_p.P372H|EPN2_uc002gvj.3_Missense_Mutation_p.P35H	p.P372H	NM_014964	NP_055779	O95208	EPN2_HUMAN			7	1563	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		372			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.1115C>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866629	0.51588	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T;T	0.37752	2.12;1.91;2.1;1.27;2.12;1.18	5.75	5.75	0.90469	.	2.724730	0.01964	N	0.043569	T	0.64702	0.2622	M	0.68593	2.085	0.20975	N	0.999813	P;P;D;D;D;P;P;D	0.59767	0.77;0.77;0.963;0.963;0.966;0.895;0.77;0.986	B;B;P;P;P;P;B;P	0.58970	0.423;0.423;0.849;0.849;0.706;0.547;0.423;0.711	T	0.65092	-0.6252	10	0.72032	D	0.01	-7.4824	19.9421	0.97168	0.0:1.0:0.0:0.0	.	315;308;80;87;372;315;315;372	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;.;.;EPN2_HUMAN	H	315;87;372;315;315;372	ENSP00000261495:P315H;ENSP00000378980:P87H;ENSP00000320543:P372H;ENSP00000378990:P315H;ENSP00000378982:P315H;ENSP00000378988:P372H	ENSP00000320543:P372H	P	+	2	0	EPN2	19157153	0.083000	0.21467	0.066000	0.19879	0.063000	0.16089	4.033000	0.57282	2.714000	0.92807	0.561000	0.74099	CCT		0.657	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3		NM_014964		141	277	1	0	2.0701e-58	0.048971	2.21903e-58	141	277		
RNF112	7732	broad.mit.edu	37	17	19319463	19319463	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:19319463G>A	ENST00000461366.1	+	14	2086	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	AC004448.2_ENST00000437646.1_lincRNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	624						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.R625Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GAAGGGGACCGAGAGCCCCTT	0.627																																						uc010vyw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1870-1872)CGA>CAA		ring finger protein 112							4.0	4.0	4.0					17																	19319463		1626	3514	5140	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19319463G>A	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1871G>A	17.37:g.19319463G>A	ENSP00000454919:p.Arg624Gln					RNF112_uc010vyv.1_Missense_Mutation_p.R625Q	p.R624Q	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN			14	2070	+			624					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.1871G>A	CCDS58529.1																																																																																				0.627	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4		NM_007148		10	25	0	0	0	0.069234	0	10	25		
UBTF	7343	broad.mit.edu	37	17	42289089	42289089	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:42289089T>G	ENST00000302904.4	-	10	1424	c.932A>C	c.(931-933)gAg>gCg	p.E311A	UBTF_ENST00000533177.1_Missense_Mutation_p.E274A|UBTF_ENST00000436088.1_Missense_Mutation_p.E311A|UBTF_ENST00000393606.3_Missense_Mutation_p.E274A|UBTF_ENST00000529383.1_Missense_Mutation_p.E311A|UBTF_ENST00000343638.5_Missense_Mutation_p.E274A|UBTF_ENST00000527034.1_Missense_Mutation_p.E274A|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.E274A			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	311					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|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)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E311A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGCCATGAGCTCTGCGCAGTA	0.617																																						uc002igb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(931-933)GAG>GCG		upstream binding transcription factor, RNA							69.0	60.0	63.0					17																	42289089		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42289089T>G	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.932A>C	17.37:g.42289089T>G	ENSP00000302640:p.Glu311Ala					UBTF_uc002igc.2_Missense_Mutation_p.E274A|UBTF_uc010czs.2_Missense_Mutation_p.E311A|UBTF_uc002igd.2_Missense_Mutation_p.E274A|UBTF_uc010czt.2_Missense_Mutation_p.E311A|UBTF_uc002ige.2_Missense_Mutation_p.E274A	p.E311A	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	9	999	-		Breast(137;0.00765)|Prostate(33;0.0181)	311			HMG box 3.		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.932A>C	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	t	21.8	4.203773	0.79127	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	4.4	4.4	0.53042	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	M	0.71871	2.18	0.80722	D	1	D;D;D	0.76494	0.993;0.99;0.999	D;D;D	0.91635	0.999;0.92;0.999	T	0.69285	-0.5185	10	0.54805	T	0.06	-31.5213	13.4631	0.61239	0.0:0.0:0.0:1.0	.	274;274;311	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	A	274;311;274;274;311;274;274;311	ENSP00000345297:E274A;ENSP00000302640:E311A;ENSP00000431539:E274A;ENSP00000437180:E274A;ENSP00000390669:E311A;ENSP00000377231:E274A;ENSP00000432925:E274A;ENSP00000435708:E311A	ENSP00000302640:E311A	E	-	2	0	UBTF	39644615	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.768000	0.85345	1.856000	0.53863	0.260000	0.18958	GAG		0.617	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1		NM_014233		12	51	0	0	0	0.080935	0	12	51		
KANSL1	284058	broad.mit.edu	37	17	44109507	44109507	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:44109507G>C	ENST00000262419.6	-	14	3466	c.2996C>G	c.(2995-2997)tCa>tGa	p.S999*	KANSL1_ENST00000575318.1_Nonsense_Mutation_p.S935*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.S999*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.S999*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.S293*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.S999*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	999	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S999*(1)									GAGGGGTGCTGAGTGCAGTTC	0.602																																						uc002ikb.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(2)	2						c.(2995-2997)TCA>TGA		hypothetical protein LOC284058							61.0	63.0	63.0					17																	44109507		2203	4300	6503	SO:0001587	stop_gained	284058					MLL1 complex	protein binding	g.chr17:44109507G>C	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2996C>G	17.37:g.44109507G>C	ENSP00000262419:p.Ser999*					KIAA1267_uc002ikc.2_Nonsense_Mutation_p.S999*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.S999*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.S998*|KIAA1267_uc010wkb.1_Nonsense_Mutation_p.S330*|KIAA1267_uc010wkc.1_Nonsense_Mutation_p.S267*	p.S999*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			13	3081	-		Melanoma(429;0.211)	999					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	ENST00000262419.6	37	c.2996C>G	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	53	21.178060	0.99938	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	.	.	.	5.72	4.76	0.60689	.	0.195830	0.45126	D	0.000386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-3.6516	9.7694	0.40580	0.0771:0.1415:0.7814:0.0	.	.	.	.	X	999;999;293	.	ENSP00000262419:S999X	S	-	2	0	KIAA1267	41465354	1.000000	0.71417	0.624000	0.29186	0.644000	0.38419	4.754000	0.62191	1.429000	0.47314	0.561000	0.74099	TCA		0.602	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1		NM_015443		11	55	0	0	0	0.069234	0	11	55		
COL1A1	1277	broad.mit.edu	37	17	48275121	48275121	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:48275121G>C	ENST00000225964.5	-	9	786	c.668C>G	c.(667-669)cCa>cGa	p.P223R		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	223	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P223R(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	AGGGGGACCTGGGGGACCTCG	0.507			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2		NaN		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - Missense(1)		urinary_tract(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(667-669)CCA>CGA		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						83.0	94.0	90.0					17																	48275121		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48275121G>C	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.668C>G	17.37:g.48275121G>C	ENSP00000225964:p.Pro223Arg						p.P223R	NM_000088	NP_000079	P02452	CO1A1_HUMAN			9	794	-			223			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.668C>G	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096974	0.37048	.	.	ENSG00000108821	ENST00000225964	D	0.95447	-3.71	4.8	4.8	0.61643	.	0.250575	0.31404	N	0.007704	D	0.95072	0.8404	M	0.63169	1.94	0.36187	D	0.84984	B	0.18610	0.029	B	0.37943	0.261	D	0.93963	0.7242	10	0.15952	T	0.53	.	17.0174	0.86423	0.0:0.0:1.0:0.0	.	223	P02452	CO1A1_HUMAN	R	223	ENSP00000225964:P223R	ENSP00000225964:P223R	P	-	2	0	COL1A1	45630120	0.892000	0.30473	1.000000	0.80357	0.841000	0.47740	3.806000	0.55583	2.357000	0.79964	0.655000	0.94253	CCA		0.507	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2				36	126	0	0	0	0.086207	0	36	126		
PDE6G	5148	broad.mit.edu	37	17	79620333	79620333	+	Start_Codon_SNP	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:79620333C>T	ENST00000331056.5	-	2	146	c.3G>A	c.(1-3)atG>atA	p.M1I	PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Start_Codon_SNP_p.M1I|PDE6G_ENST00000573076.1_Missense_Mutation_p.M51I|PDE6G_ENST00000571004.1_Start_Codon_SNP_p.M1I	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	1					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)	p.M1I(1)		lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	GTTCCAGGTTCATGGTGAGGC	0.662																																					GBM(189;38 2147 16440 40945 46567)	uc002kay.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1-3)ATG>ATA		phosphodiesterase 6G							33.0	35.0	35.0					17																	79620333		2203	4300	6503	SO:0001582	initiator_codon_variant	5148				platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	g.chr17:79620333C>T		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"""Phosphodiesterases"""	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545		ENST00000331056.5:c.3G>A	17.37:g.79620333C>T	ENSP00000328412:p.Met1Ile					PDE6G_uc002kaz.3_Intron	p.M1I	NM_002602	NP_002593	P18545	CNRG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	147	-	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		1					Q3KP63|Q7Z3U8	Missense_Mutation	SNP	ENST00000331056.5	37	c.3G>A	CCDS11783.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.504753	0.85176	.	.	ENSG00000185527	ENST00000331056	T	0.48522	0.81	5.56	5.56	0.83823	.	0.074618	0.85682	D	0.000000	T	0.65873	0.2733	.	.	.	0.80722	D	1	P	0.45126	0.851	P	0.55391	0.775	T	0.68010	-0.5522	9	0.87932	D	0	.	19.0952	0.93248	0.0:1.0:0.0:0.0	.	1	P18545	CNRG_HUMAN	I	1	ENSP00000328412:M1I	ENSP00000328412:M1I	M	-	3	0	PDE6G	77230738	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.146000	0.77373	2.624000	0.88883	0.556000	0.70494	ATG		0.662	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			Missense_Mutation	26	32	0	0	0	0.0918	0	26	32		
POLI	11201	broad.mit.edu	37	18	51818253	51818253	+	Nonsense_Mutation	SNP	C	C	T	rs56152401		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr18:51818253C>T	ENST00000579534.1	+	9	1392	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	POLI_ENST00000406285.3_Nonsense_Mutation_p.R338*|POLI_ENST00000217800.5_Nonsense_Mutation_p.R291*|POLI_ENST00000582366.1_3'UTR|POLI_ENST00000579434.1_Nonsense_Mutation_p.R314*	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	417					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R392*(1)|p.R417*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GAAACTTTTTCGAAATATGGT	0.308								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0.0008	0.0	5008	,	,		16838	0.0		0.0	False		,,,				2504	0.0					uc002lfj.3		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(2)|kidney(1)	3						c.(1249-1251)CGA>TGA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase iota							90.0	85.0	87.0					18																	51818253		2203	4300	6503	SO:0001587	stop_gained	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51818253C>T		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1249C>T	18.37:g.51818253C>T	ENSP00000462664:p.Arg417*					POLI_uc010xds.1_Nonsense_Mutation_p.R338*|POLI_uc002lfk.3_Nonsense_Mutation_p.R314*|POLI_uc010dpg.2_Nonsense_Mutation_p.R13*	p.R417*	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	9	1317	+			417					Q8N590|Q9H0S1|Q9NYH6	Nonsense_Mutation	SNP	ENST00000579534.1	37	c.1249C>T	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	42	9.698007	0.99241	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	.	.	.	5.5	5.5	0.81552	.	0.068242	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9236	14.1885	0.65623	0.0:0.85:0.15:0.0	rs56152401	.	.	.	X	338;417	.	ENSP00000217800:R417X	R	+	1	2	POLI	50072251	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.051000	0.41307	2.746000	0.94184	0.643000	0.83706	CGA		0.308	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3		NM_007195		10	41	0	0	0	0.069234	0	10	41		
ZNF516	9658	broad.mit.edu	37	18	74091604	74091604	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr18:74091604G>A	ENST00000443185.2	-	4	2783	c.2466C>T	c.(2464-2466)ctC>ctT	p.L822L	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	822					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L822L(1)		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)		CTTTGCCACCGAGGGCAGGCG	0.622																																						uc010dqx.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(2464-2466)CTC>CTT		zinc finger protein 516							42.0	52.0	49.0					18																	74091604		1931	4122	6053	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091604G>A	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.2466C>T	18.37:g.74091604G>A						ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	p.L822L	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	2701	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	822						Silent	SNP	ENST00000443185.2	37	c.2466C>T																																																																																					0.622	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding			NM_014643		31	72	0	0	0	0.041601	0	31	72		
ELAVL1	1994	broad.mit.edu	37	19	8046039	8046039	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:8046039G>A	ENST00000407627.2	-	3	333	c.204C>T	c.(202-204)taC>taT	p.Y68Y	ELAVL1_ENST00000351593.5_Silent_p.Y95Y|ELAVL1_ENST00000596459.1_Silent_p.Y68Y|ELAVL1_ENST00000593807.1_Silent_p.Y68Y	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	68	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.Y68Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCGCGGTCACGTAGTTCACAA	0.532																																						uc002mjb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(202-204)TAC>TAT		ELAV-like 1							196.0	138.0	157.0					19																	8046039		2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8046039G>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.204C>T	19.37:g.8046039G>A							p.Y68Y	NM_001419	NP_001410	Q15717	ELAV1_HUMAN			3	371	-			68			RRM 1.		B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.204C>T	CCDS12193.1																																																																																				0.532	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3		NM_001419		14	46	0	0	0	0.020292	0	14	46		
LPAR2	9170	broad.mit.edu	37	19	19737749	19737749	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:19737749G>A	ENST00000542587.1	-	5	1247	c.345C>T	c.(343-345)ctC>ctT	p.L115L	LPAR2_ENST00000586703.1_Silent_p.L115L|LPAR2_ENST00000407877.3_Silent_p.L115L|LPAR2_ENST00000589311.1_5'Flank			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	115					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)	p.L115L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCGACGCAGTGAGGCTTGTGT	0.672																																						uc002nnb.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(343-345)CTC>CTT		lysophosphatidic acid receptor 2							19.0	18.0	18.0					19																	19737749		2197	4297	6494	SO:0001819	synonymous_variant	9170				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	g.chr19:19737749G>A	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.345C>T	19.37:g.19737749G>A						LPAR2_uc002nna.3_Silent_p.L115L|LPAR2_uc002nnc.3_Silent_p.L115L	p.L115L	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN			2	484	-			115			Helical; Name=3; (Potential).		O00543|O43431	Silent	SNP	ENST00000542587.1	37	c.345C>T	CCDS12407.1																																																																																				0.672	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1		NM_004720		6	6	0	0	0	0.021553	0	6	6		
ZNF573	126231	broad.mit.edu	37	19	38229523	38229523	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:38229523G>C	ENST00000590414.2	-	4	1889	c.1868C>G	c.(1867-1869)tCa>tGa	p.S623*	ZNF573_ENST00000536220.1_Nonsense_Mutation_p.S535*|ZNF573_ENST00000392138.1_Nonsense_Mutation_p.S536*|ZNF573_ENST00000339503.4_Nonsense_Mutation_p.S565*|ZNF573_ENST00000357309.3_Nonsense_Mutation_p.S535*			Q86YE8	ZN573_HUMAN	zinc finger protein 573	623					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)	p.S565*(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AACAAGGTTTGAAGCACGACT	0.413																																						uc002ohe.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1867-1869)TCA>TGA		zinc finger protein 573							103.0	103.0	103.0					19																	38229523		2203	4300	6503	SO:0001587	stop_gained	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229523G>C	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1868C>G	19.37:g.38229523G>C	ENSP00000465020:p.Ser623*					ZNF573_uc010efs.2_Nonsense_Mutation_p.S536*|ZNF573_uc002ohd.2_Nonsense_Mutation_p.S621*|ZNF573_uc002ohf.2_Nonsense_Mutation_p.S565*|ZNF573_uc002ohg.2_Nonsense_Mutation_p.S535*	p.S623*	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		4	1890	-			603			C2H2-type 18.		B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Nonsense_Mutation	SNP	ENST00000590414.2	37	c.1868C>G	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	G	38	7.132331	0.98085	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	.	.	.	2.36	2.36	0.29203	.	.	.	.	.	.	.	.	.	.	.	0.51233	D	0.99991	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.1218	0.42625	0.0:0.0:1.0:0.0	.	.	.	.	X	536;535;535;565;535	.	ENSP00000340171:S565X	S	-	2	0	ZNF573	42921363	0.000000	0.05858	0.056000	0.19401	0.962000	0.63368	-0.095000	0.11077	1.163000	0.42636	0.580000	0.79431	TCA		0.413	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2		NM_152360		46	77	0	0	0	0.042209	0	46	77		
TRPM4	54795	broad.mit.edu	37	19	49713574	49713574	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:49713574C>T	ENST00000252826.5	+	21	3366	c.3240C>T	c.(3238-3240)atC>atT	p.I1080I	TRPM4_ENST00000427978.2_Silent_p.I935I|TRPM4_ENST00000355712.5_Silent_p.I726I	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1080	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.I1080I(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGCCCTTTATCGTCATCTCCC	0.637																																						uc002pmw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(3238-3240)ATC>ATT		transient receptor potential cation channel,							59.0	58.0	58.0					19																	49713574		2203	4300	6503	SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49713574C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3240C>T	19.37:g.49713574C>T						TRPM4_uc010emu.2_Silent_p.I935I|TRPM4_uc010yak.1_Silent_p.I544I|TRPM4_uc002pmx.2_Silent_p.I906I|TRPM4_uc010emv.2_Silent_p.I965I|TRPM4_uc010yal.1_Silent_p.I726I|TRPM4_uc002pmy.2_Silent_p.I422I	p.I1080I	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	21	3312	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1080			Cytoplasmic (Potential).|Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.3240C>T	CCDS33073.1																																																																																				0.637	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2		NM_017636		20	30	0	0	0	0.062417	0	20	30		
LENG8	114823	broad.mit.edu	37	19	54967251	54967251	+	Silent	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:54967251T>G	ENST00000326764.5	+	9	1610	c.1131T>G	c.(1129-1131)ggT>ggG	p.G377G	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	340	Ser-rich.							p.G377G(2)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGGCGGGGGTGCCCCGTCCC	0.687																																						uc002qfv.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|central_nervous_system(1)	central_nervous_system(1)|pancreas(1)	2						c.(1018-1020)GGT>GGG		RecName: Full=Leukocyte receptor cluster member 8;																																				SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54967251T>G	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1131T>G	19.37:g.54967251T>G						LENG8_uc002qfw.2_Silent_p.G377G	p.G340G			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	8	1164	+	Ovarian(34;0.19)		340					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.1020T>G	CCDS12894.1																																																																																				0.687	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2		NM_052925		6	24	0	0	0	0.058154	0	6	24		
KIR3DL1	3811	broad.mit.edu	37	19	55329821	55329821	+	Missense_Mutation	SNP	G	G	A	rs369021301		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:55329821G>A	ENST00000391728.4	+	3	155	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R41Q|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R41Q|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R41Q|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R41Q	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	41					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.R41Q(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGGTGCCTCGAGGAGGACAC	0.542																																						uc002qhk.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(121-123)CGA>CAA		killer cell immunoglobulin-like receptor, three		G	GLN/ARG	2,4348		0,2,2173	104.0	106.0	105.0		122	-2.8	0.0	19		105	0,8248		0,0,4124	no	missense	KIR3DL1	NM_013289.2	43	0,2,6297	AA,AG,GG		0.0,0.046,0.0159		41/445	55329821	2,12596	2175	4124	6299	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55329821G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.122G>A	19.37:g.55329821G>A	ENSP00000375608:p.Arg41Gln					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_5'UTR|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_5'UTR|KIR3DL1_uc002qhl.3_Missense_Mutation_p.R41Q	p.R41Q	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	185	+			41			Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.122G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.764310	0.00651	4.6E-4	0.0	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542	T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77	1.41	-2.81	0.05805	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	4.393480	0.01360	N	0.012186	T	0.02929	0.0087	N	0.02129	-0.67	0.09310	N	1	B;B	0.15141	0.01;0.012	B;B	0.14578	0.011;0.002	T	0.28038	-1.0056	10	0.02654	T	1	.	0.1249	0.00068	0.2767:0.2696:0.1761:0.2776	.	41;41	F6QF33;P43629	.;KI3L1_HUMAN	Q	41;41;41;19;41;41	ENSP00000384528:R41Q;ENSP00000443350:R41Q;ENSP00000442355:R41Q;ENSP00000375608:R41Q;ENSP00000326868:R41Q	ENSP00000326868:R41Q	R	+	2	0	KIR3DL1	60021633	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-6.606000	0.00059	-2.389000	0.00587	-1.109000	0.02080	CGA		0.542	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1		NM_013289		37	54	0	0	0	0.09836	0	37	54		
NLRP8	126205	broad.mit.edu	37	19	56466176	56466176	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:56466176C>T	ENST00000291971.3	+	3	823	c.752C>T	c.(751-753)aCg>aTg	p.T251M	NLRP8_ENST00000590542.1_Missense_Mutation_p.T251M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	251	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.T251M(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGAACCAGACGACAGACCAG	0.512																																						uc002qmh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(751-753)ACG>ATG		NLR family, pyrin domain containing 8							145.0	138.0	141.0					19																	56466176		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466176C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.752C>T	19.37:g.56466176C>T	ENSP00000291971:p.Thr251Met					NLRP8_uc010etg.2_Missense_Mutation_p.T251M	p.T251M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	823	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	251			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.752C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	c	7.212	0.595529	0.13875	.	.	ENSG00000179709	ENST00000291971	T	0.23552	1.9	2.04	-4.08	0.03963	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.09158	0.0226	N	0.05383	-0.06	0.09310	N	1	B;B	0.23540	0.087;0.064	B;B	0.24394	0.024;0.053	T	0.15321	-1.0441	9	0.25106	T	0.35	.	1.0658	0.01611	0.1357:0.261:0.2708:0.3325	.	251;251	Q86W28-2;Q86W28	.;NALP8_HUMAN	M	251	ENSP00000291971:T251M	ENSP00000291971:T251M	T	+	2	0	NLRP8	61157988	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.211000	0.09332	-2.972000	0.00286	-0.279000	0.10071	ACG		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1		NM_176811		38	75	0	0	0	0.080422	0	38	75		
GGCX	2677	broad.mit.edu	37	2	85785670	85785670	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:85785670C>T	ENST00000233838.4	-	4	512	c.432G>A	c.(430-432)ctG>ctA	p.L144L	GGCX_ENST00000430215.3_Silent_p.L87L	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	144					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)	p.L144L(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	ACCAGTATGGCAGCAGGAATA	0.493																																						uc002sps.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(430-432)CTG>CTA		gamma-glutamyl carboxylase isoform 1	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						139.0	115.0	124.0					2																	85785670		2203	4300	6503	SO:0001819	synonymous_variant	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85785670C>T		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.432G>A	2.37:g.85785670C>T						GGCX_uc010yss.1_Silent_p.L16L|GGCX_uc010yst.1_Silent_p.L87L	p.L144L	NM_000821	NP_000812	P38435	VKGC_HUMAN			4	538	-			144			Helical; (Potential).		B4DMC5|E9PEE1|Q14415|Q6GU45	Silent	SNP	ENST00000233838.4	37	c.432G>A	CCDS1978.1																																																																																				0.493	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3		NM_000821		24	44	0	0	0	0.076483	0	24	44		
GPR39	2863	broad.mit.edu	37	2	133174772	133174772	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:133174772C>T	ENST00000329321.3	+	1	626	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	53					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)	p.R53W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGCCACCATTCGGGTCACCCA	0.537																																						uc002ttl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(157-159)CGG>TGG		G protein-coupled receptor 39							152.0	136.0	141.0					2																	133174772		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133174772C>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.157C>T	2.37:g.133174772C>T	ENSP00000327417:p.Arg53Trp						p.R53W	NM_001508	NP_001499	O43194	GPR39_HUMAN			1	626	+			53			Cytoplasmic (Potential).		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.157C>T	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276592	0.59758	.	.	ENSG00000183840	ENST00000329321	T	0.35236	1.32	5.34	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.289990	0.31673	N	0.007244	T	0.44138	0.1279	L	0.43152	1.355	0.25420	N	0.988277	D	0.89917	1.0	D	0.68192	0.956	T	0.18023	-1.0350	10	0.38643	T	0.18	.	7.0323	0.24975	0.2574:0.6052:0.0:0.1374	.	53	O43194	GPR39_HUMAN	W	53	ENSP00000327417:R53W	ENSP00000327417:R53W	R	+	1	2	GPR39	132891242	0.029000	0.19370	0.858000	0.33744	0.982000	0.71751	0.012000	0.13287	0.397000	0.25310	0.549000	0.68633	CGG		0.537	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1				19	32	0	0	0	0.049695	0	19	32		
LRP1B	53353	broad.mit.edu	37	2	141272335	141272335	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:141272335G>T	ENST00000389484.3	-	51	9127	c.8156C>A	c.(8155-8157)tCt>tAt	p.S2719Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2719	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S2719Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAAGAGCAAGAAGAATCTAG	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8155-8157)TCT>TAT		low density lipoprotein-related protein 1B							77.0	73.0	74.0					2																	141272335		2202	4300	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141272335G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8156C>A	2.37:g.141272335G>T	ENSP00000374135:p.Ser2719Tyr	TSP Lung(27;0.18)					p.S2719Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	51	9128	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2719			Extracellular (Potential).|LDL-receptor class A 16.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8156C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341557	0.81911	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.44083	0.93	5.29	5.29	0.74685	.	0.000000	0.64402	U	0.000002	T	0.55194	0.1905	M	0.61703	1.905	0.52501	D	0.999958	D	0.56746	0.977	P	0.54544	0.755	T	0.46707	-0.9172	10	0.21540	T	0.41	.	19.2903	0.94096	0.0:0.0:1.0:0.0	.	2719	Q9NZR2	LRP1B_HUMAN	Y	2719;2657	ENSP00000374135:S2719Y	ENSP00000374135:S2719Y	S	-	2	0	LRP1B	140988805	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.235000	0.72332	2.633000	0.89246	0.655000	0.94253	TCT		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		13	26	1	0	7.03913e-09	0.09319	7.33447e-09	13	26		
SP3	6670	broad.mit.edu	37	2	174783487	174783487	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:174783487C>T	ENST00000310015.6	-	5	2196	c.1666G>A	c.(1666-1668)Gat>Aat	p.D556N	SP3_ENST00000418194.2_Missense_Mutation_p.D488N|SP3_ENST00000455789.2_Missense_Mutation_p.D503N	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	556	Repressor domain.				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|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 core promoter sequence-specific DNA binding (GO:0000979)	p.D556N(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TCTTCAGGATCAGGTTCTTCT	0.403																																						uc002uig.2		NaN																EWSR1/SP3(3)	1	Substitution - Missense(1)		urinary_tract(1)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1666-1668)GAT>AAT		Sp3 transcription factor isoform 1							63.0	61.0	61.0					2																	174783487		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174783487C>T	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1666G>A	2.37:g.174783487C>T	ENSP00000310301:p.Asp556Asn					SP3_uc002uie.2_Missense_Mutation_p.D488N|SP3_uc002uif.2_Missense_Mutation_p.D503N|SP3_uc010zel.1_Missense_Mutation_p.D553N	p.D556N	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		5	1830	-			556			Repressor domain.		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.1666G>A	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918710	0.73098	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.05996	3.37;3.36;3.36	5.63	5.63	0.86233	.	0.206543	0.49916	D	0.000123	T	0.12817	0.0311	L	0.49778	1.585	0.80722	D	1	P;P;P	0.50272	0.704;0.933;0.646	B;P;B	0.46479	0.212;0.518;0.311	T	0.00395	-1.1766	10	0.49607	T	0.09	.	20.0529	0.97634	0.0:1.0:0.0:0.0	.	553;556;503	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	N	556;503;488	ENSP00000310301:D556N;ENSP00000388903:D503N;ENSP00000406140:D488N	ENSP00000310301:D556N	D	-	1	0	SP3	174491733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.814000	0.96858	0.591000	0.81541	GAT		0.403	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1		NM_003111		17	39	0	0	0	0.0333	0	17	39		
TTN	7273	broad.mit.edu	37	2	179638034	179638034	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:179638034C>G	ENST00000591111.1	-	33	7881	c.7657G>C	c.(7657-7659)Gag>Cag	p.E2553Q	TTN_ENST00000342992.6_Missense_Mutation_p.E2553Q|TTN_ENST00000460472.2_Missense_Mutation_p.E2507Q|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E2553Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E2553Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E2507Q|TTN_ENST00000342175.6_Missense_Mutation_p.E2507Q			Q8WZ42	TITIN_HUMAN	titin	12876					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)	p.E2507Q(3)|p.E2553Q(3)		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)			AGCTCAACCTCAAACACCACA	0.353																																						uc010zfg.1		NaN																	6	Substitution - Missense(6)		urinary_tract(6)	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.(7657-7659)GAG>CAG		titin isoform N2-A							42.0	44.0	44.0					2																	179638034		2201	4299	6500	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638034C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7657G>C	2.37:g.179638034C>G	ENSP00000465570:p.Glu2553Gln					TTN_uc010zfh.1_Missense_Mutation_p.E2507Q|TTN_uc010zfi.1_Missense_Mutation_p.E2507Q|TTN_uc010zfj.1_Missense_Mutation_p.E2507Q|TTN_uc002unb.2_Missense_Mutation_p.E2553Q	p.E2553Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		33	7881	-			2553					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.7657G>C		.	.	.	.	.	.	.	.	.	.	C	12.51	1.960498	0.34565	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79557	0.4466	M	0.78049	2.395	0.27257	N	0.958725	P;P;P;P;D	0.57571	0.549;0.549;0.549;0.549;0.98	P;P;P;P;P	0.53649	0.502;0.502;0.502;0.502;0.731	T	0.74919	-0.3500	9	0.87932	D	0	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	2507;2507;2507;2553;2553	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	2553;2507;2507;2507;2507;2553	ENSP00000343764:E2553Q;ENSP00000434586:E2507Q;ENSP00000340554:E2507Q;ENSP00000352154:E2507Q;ENSP00000354117:E2553Q	ENSP00000340554:E2507Q	E	-	1	0	TTN	179346279	1.000000	0.71417	0.809000	0.32408	0.944000	0.59088	4.768000	0.62293	2.685000	0.91497	0.650000	0.86243	GAG		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		18	33	0	0	0	0.049695	0	18	33		
COL5A2	1290	broad.mit.edu	37	2	189953486	189953486	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:189953486G>C	ENST00000374866.3	-	8	854	c.580C>G	c.(580-582)Caa>Gaa	p.Q194E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	194					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.Q194E(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGCCATTTGAGCTGAAAAC	0.378																																						uc002uqk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(580-582)CAA>GAA		alpha 2 type V collagen preproprotein							107.0	104.0	105.0					2																	189953486		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189953486G>C	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.580C>G	2.37:g.189953486G>C	ENSP00000364000:p.Gln194Glu					COL5A2_uc010frx.2_5'Flank	p.Q194E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		8	855	-			194					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.580C>G	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286177	0.80803	.	.	ENSG00000204262	ENST00000374866	D	0.89810	-2.57	6.07	6.07	0.98685	.	0.000000	0.50627	D	0.000104	D	0.90981	0.7164	L	0.52573	1.65	0.46823	D	0.999219	P	0.40332	0.713	P	0.51806	0.68	D	0.88702	0.3216	9	.	.	.	.	17.5761	0.87949	0.0:0.0:1.0:0.0	.	194	P05997	CO5A2_HUMAN	E	194	ENSP00000364000:Q194E	.	Q	-	1	0	COL5A2	189661731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.018000	0.70811	2.885000	0.99019	0.655000	0.94253	CAA		0.378	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1		NM_000393		25	75	0	0	0	0.108266	0	25	75		
ANKAR	150709	broad.mit.edu	37	2	190593544	190593544	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:190593544A>G	ENST00000520309.1	+	15	3278	c.3190A>G	c.(3190-3192)Att>Gtt	p.I1064V	ANKAR_ENST00000431575.2_Missense_Mutation_p.I993V|ANKAR_ENST00000313581.4_Missense_Mutation_p.I1064V|ANKAR_ENST00000438402.2_Missense_Mutation_p.I1064V|ANKAR_ENST00000281412.6_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1064						integral component of membrane (GO:0016021)		p.I993V(1)|p.I1064V(1)		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)			ATCCATTTGTATTGGTTTGTA	0.393																																						uc002uqw.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2977-2979)ATT>GTT		ankyrin and armadillo repeat containing							104.0	99.0	101.0					2																	190593544		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190593544A>G	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.3190A>G	2.37:g.190593544A>G	ENSP00000427882:p.Ile1064Val					ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.I160V	p.I993V	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		14	2977	+			1064					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2977A>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	A	2.497	-0.316025	0.05422	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000374838	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.07	2.64	0.31445	.	0.310847	0.23718	N	0.045245	T	0.20210	0.0486	L	0.41824	1.3	0.80722	D	1	B	0.13594	0.008	B	0.15870	0.014	T	0.06935	-1.0799	10	0.22706	T	0.39	-12.0987	5.1283	0.14896	0.6803:0.1553:0.1644:0.0	.	140	E9PHS9	.	V	1064;1064;1064;993;140	ENSP00000427882:I1064V;ENSP00000313513:I1064V;ENSP00000397243:I1064V;ENSP00000393043:I993V	ENSP00000313513:I1064V	I	+	1	0	ANKAR	190301789	0.998000	0.40836	0.824000	0.32777	0.149000	0.21700	2.292000	0.43549	0.390000	0.25115	0.383000	0.25322	ATT		0.393	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3		NM_144708		31	48	0	0	0	0.037714	0	31	48		
GTF3C3	9330	broad.mit.edu	37	2	197639909	197639909	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:197639909G>C	ENST00000263956.3	-	13	1851	c.1762C>G	c.(1762-1764)Ctt>Gtt	p.L588V		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	588					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.L588V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACTTTAATAAGATAAAGATGC	0.333																																						uc002uts.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(3)|pancreas(1)	7						c.(1762-1764)CTT>GTT		general transcription factor IIIC, polypeptide							96.0	96.0	96.0					2																	197639909		2203	4300	6503	SO:0001583	missense	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197639909G>C	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1762C>G	2.37:g.197639909G>C	ENSP00000263956:p.Leu588Val					GTF3C3_uc010zgu.1_Missense_Mutation_p.L559V	p.L588V	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN			13	1852	-			588					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.1762C>G	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508069	0.64410	.	.	ENSG00000119041	ENST00000263956;ENST00000435252	T	0.46063	0.88	5.2	4.33	0.51752	.	0.000000	0.64402	D	0.000001	T	0.39937	0.1097	N	0.24115	0.695	0.80722	D	1	D	0.61080	0.989	P	0.55391	0.775	T	0.09751	-1.0660	10	0.12766	T	0.61	-8.5186	13.9056	0.63834	0.073:0.0:0.927:0.0	.	588	Q9Y5Q9	TF3C3_HUMAN	V	588;111	ENSP00000263956:L588V	ENSP00000263956:L588V	L	-	1	0	GTF3C3	197348154	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.615000	0.67702	1.424000	0.47217	-0.140000	0.14226	CTT		0.333	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1				14	37	0	0	0	0.024245	0	14	37		
SNRPB2	6629	broad.mit.edu	37	20	16719531	16719531	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr20:16719531C>G	ENST00000246071.6	+	5	629	c.413C>G	c.(412-414)tCa>tGa	p.S138*	SNRPB2_ENST00000377943.5_Nonsense_Mutation_p.S138*	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	138					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)	p.S138*(1)		large_intestine(2)|lung(2)|urinary_tract(1)	5						CAAGGAAATTCAACACCAAAT	0.338																																						uc002wph.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	large_intestine(1)	1						c.(412-414)TCA>TGA		small nuclear ribonucleoprotein polypeptide B''							69.0	69.0	69.0					20																	16719531		2203	4300	6503	SO:0001587	stop_gained	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16719531C>G		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.413C>G	20.37:g.16719531C>G	ENSP00000246071:p.Ser138*					SNRPB2_uc002wpi.1_Nonsense_Mutation_p.S138*	p.S138*	NM_003092	NP_003083	P08579	RU2B_HUMAN			5	629	+			138					B2R7J3|D3DW21|Q9UJD4	Nonsense_Mutation	SNP	ENST00000246071.6	37	c.413C>G	CCDS13123.1	.	.	.	.	.	.	.	.	.	.	C	37	6.032960	0.97221	.	.	ENSG00000125870	ENST00000377943;ENST00000246071	.	.	.	5.52	4.58	0.56647	.	0.996321	0.08144	N	0.991081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-0.5175	12.7845	0.57496	0.0:0.924:0.0:0.076	.	.	.	.	X	138	.	ENSP00000246071:S138X	S	+	2	0	SNRPB2	16667531	0.788000	0.28762	0.722000	0.30670	0.802000	0.45316	1.572000	0.36461	1.460000	0.47911	0.591000	0.81541	TCA		0.338	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1		NM_003092		8	22	0	0	0	0.069234	0	8	22		
CEP250	11190	broad.mit.edu	37	20	34051427	34051427	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr20:34051427G>C	ENST00000397527.1	+	5	934	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	CEP250_ENST00000342580.4_Missense_Mutation_p.E72Q|CEP250_ENST00000397524.1_Missense_Mutation_p.E72Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	72					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E72Q(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGGTGCCAAGAGCTGGAGAA	0.547											OREG0025891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xcm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(214-216)GAG>CAG		centrosomal protein 2							56.0	52.0	53.0					20																	34051427		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34051427G>C	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.214G>C	20.37:g.34051427G>C	ENSP00000380661:p.Glu72Gln		OREG0025891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	844	CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA	p.E72Q	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		6	885	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		72					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.214G>C	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720266	0.89205	.	.	ENSG00000126001	ENST00000446710;ENST00000420564;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.53423	2.5;2.56;0.62;1.56	5.11	5.11	0.69529	.	0.100586	0.43260	D	0.000584	T	0.61060	0.2317	M	0.71581	2.175	0.32833	D	0.50427	P	0.52061	0.95	P	0.53102	0.718	T	0.72312	-0.4331	10	0.59425	D	0.04	.	16.4898	0.84197	0.0:0.0:1.0:0.0	.	72	Q9BV73	CP250_HUMAN	Q	72	ENSP00000380661:E72Q;ENSP00000341541:E72Q;ENSP00000380658:E72Q;ENSP00000413827:E72Q	ENSP00000341541:E72Q	E	+	1	0	CEP250	33514841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.242000	0.58714	2.661000	0.90470	0.655000	0.94253	GAG		0.547	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7		NM_007186		5	25	0	0	0	0.021553	0	5	25		
BRWD1	54014	broad.mit.edu	37	21	40604198	40604198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr21:40604198G>A	ENST00000333229.2	-	25	3232	c.2905C>T	c.(2905-2907)Cga>Tga	p.R969*	BRWD1_ENST00000380800.3_Nonsense_Mutation_p.R969*|BRWD1_ENST00000342449.3_Nonsense_Mutation_p.R969*	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	969					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R969*(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGACCCTGTCGAAAATATATT	0.308																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	skin(3)|ovary(1)	4						c.(2905-2907)CGA>TGA		bromodomain and WD repeat domain containing 1							50.0	50.0	50.0					21																	40604198		2202	4295	6497	SO:0001587	stop_gained	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40604198G>A	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.2905C>T	21.37:g.40604198G>A	ENSP00000330753:p.Arg969*					BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Nonsense_Mutation_p.R969*|BRWD1_uc010god.1_5'Flank	p.R969*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			25	3044	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	969					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Nonsense_Mutation	SNP	ENST00000333229.2	37	c.2905C>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	41	9.078693	0.99059	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	.	.	.	5.55	2.63	0.31362	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3945	14.5767	0.68252	0.0:0.0:0.6018:0.3982	.	.	.	.	X	969	.	ENSP00000330753:R969X	R	-	1	2	BRWD1	39526068	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.414000	0.59802	0.242000	0.21303	0.591000	0.81541	CGA		0.308	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		6	33	0	0	0	0.02938	0	6	33		
GNAZ	2781	broad.mit.edu	37	22	23465561	23465561	+	Silent	SNP	C	C	T	rs139659965		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr22:23465561C>T	ENST00000248996.4	+	3	1677	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	337					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)	p.F337F(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGTTTGTCTTCGACGCGGTGA	0.562																																						uc002zwu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(1)|skin(1)	2						c.(1009-1011)TTC>TTT		guanine nucleotide binding protein, alpha z		C	,	0,4406		0,0,2203	131.0	96.0	108.0		1011,	-4.5	0.6	22	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	GNAZ,RTDR1	NM_002073.2,NM_014433.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	337/356,	23465561	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23465561C>T		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.1011C>T	22.37:g.23465561C>T						RTDR1_uc002zwt.2_Intron	p.F337F	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	3	1548	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		337					B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.1011C>T	CCDS13804.1																																																																																				0.562	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1		NM_002073		13	16	0	0	0	0.024245	0	13	16		
CCDC36	339834	broad.mit.edu	37	3	49249260	49249260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:49249260C>A	ENST00000438782.1	+	2	283	c.47C>A	c.(46-48)tCa>tAa	p.S16*	CCDC36_ENST00000493870.1_Intron|CCDC36_ENST00000296449.5_Nonsense_Mutation_p.S16*|CCDC36_ENST00000452691.2_Nonsense_Mutation_p.S16*|CCDC36_ENST00000366429.2_Nonsense_Mutation_p.S16*			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	16								p.S6*(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AGTATTCCTTCAGGCTCTGGG	0.383																																						uc003cwk.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|kidney(1)	2						c.(46-48)TCA>TAA		coiled-coil domain containing 36							124.0	125.0	125.0					3																	49249260		2203	4300	6503	SO:0001587	stop_gained	339834							g.chr3:49249260C>A	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.47C>A	3.37:g.49249260C>A	ENSP00000391788:p.Ser16*					CCDC36_uc003cwl.3_Nonsense_Mutation_p.S16*|CCDC36_uc011bck.1_Nonsense_Mutation_p.S16*|CCDC36_uc010hkt.2_RNA	p.S16*	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	4	434	+			16					C9JJL0|Q05DG9|Q96LP7	Nonsense_Mutation	SNP	ENST00000438782.1	37	c.47C>A	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	C	35	5.495157	0.96339	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000366429	.	.	.	4.42	4.42	0.53409	.	0.201164	0.24578	N	0.037340	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7732	12.715	0.57109	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000296449:S16X	S	+	2	0	CCDC36	49224264	0.998000	0.40836	0.990000	0.47175	0.977000	0.68977	3.575000	0.53870	2.474000	0.83562	0.585000	0.79938	TCA		0.383	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1		NM_178173		22	63	1	0	3.7963e-18	0.083992	4.0117e-18	22	63		
CCDC36	339834	broad.mit.edu	37	3	49249266	49249266	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:49249266C>T	ENST00000438782.1	+	2	289	c.53C>T	c.(52-54)tCt>tTt	p.S18F	CCDC36_ENST00000493870.1_Intron|CCDC36_ENST00000296449.5_Missense_Mutation_p.S18F|CCDC36_ENST00000452691.2_Missense_Mutation_p.S18F|CCDC36_ENST00000366429.2_Missense_Mutation_p.S18F			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	18								p.S8F(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CCTTCAGGCTCTGGGTAAGTT	0.388																																						uc003cwk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)	2						c.(52-54)TCT>TTT		coiled-coil domain containing 36							125.0	126.0	126.0					3																	49249266		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49249266C>T	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.53C>T	3.37:g.49249266C>T	ENSP00000391788:p.Ser18Phe					CCDC36_uc003cwl.3_Missense_Mutation_p.S18F|CCDC36_uc011bck.1_Missense_Mutation_p.S18F|CCDC36_uc010hkt.2_RNA	p.S18F	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	4	440	+			18					C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.53C>T	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	C	19.14	3.768897	0.69878	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000366429	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	4.42	4.42	0.53409	.	0.486110	0.17440	N	0.174157	T	0.24547	0.0595	N	0.24115	0.695	0.80722	D	1	P;D	0.55385	0.911;0.971	P;P	0.60473	0.555;0.875	T	0.01771	-1.1277	10	0.72032	D	0.01	-3.0111	12.715	0.57109	0.0:1.0:0.0:0.0	.	18;18	Q8IYA8-3;Q8IYA8	.;CCD36_HUMAN	F	18	ENSP00000296449:S18F;ENSP00000391788:S18F;ENSP00000407837:S18F;ENSP00000403700:S18F	ENSP00000296449:S18F	S	+	2	0	CCDC36	49224270	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	3.575000	0.53870	2.474000	0.83562	0.585000	0.79938	TCT		0.388	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1		NM_178173		21	61	0	0	0	0.069288	0	21	61		
DOCK3	1795	broad.mit.edu	37	3	51393912	51393912	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:51393912G>C	ENST00000266037.9	+	43	4514	c.4491G>C	c.(4489-4491)gaG>gaC	p.E1497D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1497	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E1497D(1)|p.E1486D(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTGAAGTGGAGAGGAGGGAAC	0.542																																						uc011bds.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(4489-4491)GAG>GAC		dedicator of cytokinesis 3							117.0	114.0	115.0					3																	51393912		2021	4187	6208	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51393912G>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4491G>C	3.37:g.51393912G>C	ENSP00000266037:p.Glu1497Asp						p.E1497D	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	43	4514	+			1497			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.4491G>C	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505038	0.26949	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.18016	2.24	5.49	3.3	0.37823	.	0.104688	0.64402	D	0.000005	T	0.15782	0.0380	L	0.60455	1.87	0.41661	D	0.989184	B	0.13594	0.008	B	0.20384	0.029	T	0.07083	-1.0791	10	0.18710	T	0.47	.	8.0769	0.30722	0.2833:0.0:0.7167:0.0	.	1497	Q8IZD9	DOCK3_HUMAN	D	1497;293	ENSP00000266037:E1497D	ENSP00000266037:E1497D	E	+	3	2	DOCK3	51368952	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	0.605000	0.24179	0.545000	0.28902	0.655000	0.94253	GAG		0.542	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5		NM_004947		16	47	0	0	0	0.028581	0	16	47		
ARHGEF3	50650	broad.mit.edu	37	3	56787589	56787589	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:56787589G>C	ENST00000296315.3	-	4	549	c.381C>G	c.(379-381)atC>atG	p.I127M	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.I133M|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.I159M|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.I98M|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.I127M|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.I133M	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	127	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I127M(2)|p.I159M(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AAAGCTCAAAGATCGCCTGCA	0.368																																						uc003dig.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(1)	1						c.(379-381)ATC>ATG		Rho guanine nucleotide exchange factor 3 isoform							118.0	122.0	121.0					3																	56787589		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56787589G>C	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.381C>G	3.37:g.56787589G>C	ENSP00000296315:p.Ile127Met					ARHGEF3_uc011bew.1_Missense_Mutation_p.I127M|ARHGEF3_uc003dih.2_Missense_Mutation_p.I159M|ARHGEF3_uc011bev.1_Missense_Mutation_p.I98M|ARHGEF3_uc003dif.2_Missense_Mutation_p.I133M|ARHGEF3_uc010hmy.1_Translation_Start_Site|ARHGEF3_uc003dii.2_Missense_Mutation_p.I127M	p.I127M	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	4	550	-			127			DH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.381C>G	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437700	0.43224	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.63	0.102	0.14522	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	M	0.75777	2.31	0.50313	D	0.999864	D;D;D;D;D;D	0.67145	0.996;0.996;0.996;0.995;0.996;0.995	D;D;D;D;D;D	0.77557	0.99;0.99;0.99;0.983;0.99;0.983	T	0.70436	-0.4872	10	0.51188	T	0.08	0.0167	5.1611	0.15062	0.557:0.0:0.2928:0.1502	.	133;98;127;159;127;133	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	M	127;159;133;133;98;127;128;145	ENSP00000296315:I127M;ENSP00000341071:I159M;ENSP00000410922:I133M;ENSP00000420420:I133M;ENSP00000418826:I98M;ENSP00000417986:I127M;ENSP00000417087:I128M;ENSP00000420402:I145M	ENSP00000296315:I127M	I	-	3	3	ARHGEF3	56762629	0.998000	0.40836	0.979000	0.43373	0.665000	0.39181	0.393000	0.20817	0.127000	0.18452	-0.136000	0.14681	ATC		0.368	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2		NM_019555		27	83	0	0	0	0.041601	0	27	83		
ARL13B	200894	broad.mit.edu	37	3	93761858	93761858	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:93761858G>C	ENST00000394222.3	+	7	1073		c.e7-1		ARL13B_ENST00000471138.1_Splice_Site|ARL13B_ENST00000539730.1_Splice_Site|ARL13B_ENST00000303097.7_Splice_Site|ARL13B_ENST00000535334.1_Splice_Site	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B						cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.?(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TTTTTTGTTAGAATGAAGGAA	0.313																																						uc003drc.2		NaN																	2	Unknown(2)		urinary_tract(2)		0						c.e7-1		ADP-ribosylation factor-like 2-like 1 isoform 1							25.0	26.0	25.0					3																	93761858		2196	4292	6488	SO:0001630	splice_region_variant	200894						GTP binding	g.chr3:93761858G>C	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.799-1G>C	3.37:g.93761858G>C						ARL13B_uc010hop.2_Splice_Site_p.N118_splice|ARL13B_uc003drd.2_Splice_Site_p.N160_splice|ARL13B_uc003dre.2_Splice_Site_p.N252_splice|ARL13B_uc003drf.2_Splice_Site_p.N267_splice|ARL13B_uc003drg.2_Splice_Site_p.N164_splice	p.N267_splice	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN			7	1085	+								D3DN29|G3V1S8|Q504W8|Q8TCL5	Splice_Site	SNP	ENST00000394222.3	37	c.799_splice	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072277	0.55646	.	.	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8553	0.86004	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARL13B	95244548	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.173000	0.58249	2.587000	0.87381	0.563000	0.77884	.		0.313	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1		NM_182896	Intron	2	6	0	0	0	0.004672	0	2	6		
ARL13B	200894	broad.mit.edu	37	3	93761880	93761880	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:93761880G>C	ENST00000394222.3	+	7	1095	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	ARL13B_ENST00000471138.1_Missense_Mutation_p.E274Q|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000303097.7_Missense_Mutation_p.E167Q|ARL13B_ENST00000535334.1_Missense_Mutation_p.E171Q	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	274					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.E274Q(1)|p.E167Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						ACTTGAAAGAGAGAAAAAAAA	0.328																																						uc003drc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(820-822)GAG>CAG		ADP-ribosylation factor-like 2-like 1 isoform 1							42.0	42.0	42.0					3																	93761880		2201	4297	6498	SO:0001583	missense	200894						GTP binding	g.chr3:93761880G>C	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.820G>C	3.37:g.93761880G>C	ENSP00000377769:p.Glu274Gln					ARL13B_uc010hop.2_Missense_Mutation_p.E125Q|ARL13B_uc003drd.2_Missense_Mutation_p.E167Q|ARL13B_uc003dre.2_Missense_Mutation_p.E259Q|ARL13B_uc003drf.2_Missense_Mutation_p.E274Q|ARL13B_uc003drg.2_Missense_Mutation_p.E171Q	p.E274Q	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN			7	1106	+			274					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.820G>C	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689503	0.29962	.	.	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138	T;T;T;T	0.66099	1.62;-0.19;0.06;0.06	4.98	4.98	0.66077	.	0.054433	0.64402	D	0.000001	T	0.60366	0.2263	M	0.63843	1.955	0.80722	D	1	P;B;P;B	0.41673	0.639;0.177;0.759;0.177	B;B;B;B	0.37692	0.187;0.029;0.256;0.044	T	0.65940	-0.6046	10	0.49607	T	0.09	1.0268	16.3673	0.83338	0.0:0.0:1.0:0.0	.	171;274;167;274	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	Q	171;167;274;274	ENSP00000445145:E171Q;ENSP00000306225:E167Q;ENSP00000377769:E274Q;ENSP00000420780:E274Q	ENSP00000306225:E167Q	E	+	1	0	ARL13B	95244570	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	6.116000	0.71571	2.474000	0.83562	0.563000	0.77884	GAG		0.328	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1		NM_182896		4	10	0	0	0	0.009096	0	4	10		
ARHGEF26	26084	broad.mit.edu	37	3	153840100	153840100	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:153840100C>G	ENST00000356448.4	+	2	603	c.319C>G	c.(319-321)Cga>Gga	p.R107G	ARHGEF26_ENST00000465817.1_Missense_Mutation_p.R107G|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.R107G|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	107	Pro-rich.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R107G(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TGCCTCTCCTCGACTTCGACG	0.687																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	large_intestine(1)	1						c.(319-321)CGA>GGA		Src homology 3 domain-containing guanine							16.0	20.0	19.0					3																	153840100		2026	4193	6219	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153840100C>G	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.319C>G	3.37:g.153840100C>G	ENSP00000348828:p.Arg107Gly					uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.R107G	p.R107G	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		2	530	+			107			Pro-rich.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.319C>G	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451523	0.26074	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.58940	0.3;0.3;2.11	4.49	-0.0546	0.13813	.	0.652470	0.13622	N	0.374397	T	0.36026	0.0952	N	0.24115	0.695	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.16689	-1.0394	10	0.23302	T	0.38	-8.1081	6.3582	0.21412	0.4526:0.2809:0.2665:0.0	.	107;107	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	G	107	ENSP00000348828:R107G;ENSP00000423418:R107G;ENSP00000423295:R107G	ENSP00000348828:R107G	R	+	1	2	ARHGEF26	155322790	0.000000	0.05858	0.873000	0.34254	0.673000	0.39480	-0.724000	0.04947	0.281000	0.22233	-0.397000	0.06425	CGA		0.687	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3		NM_015595		5	17	0	0	0	0.021553	0	5	17		
VPS8	23355	broad.mit.edu	37	3	184557485	184557485	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:184557485G>A	ENST00000437079.3	+	7	651		c.e7-1		VPS8_ENST00000446204.2_Splice_Site|VPS8_ENST00000287546.4_Splice_Site|VPS8_ENST00000424463.2_3'UTR|VPS8_ENST00000436792.2_Splice_Site	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)								zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTTGTTTTCAGGCAGTATCCA	0.358																																						uc003fpb.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(1)	1						c.e7-1		vacuolar protein sorting 8 homolog isoform b							142.0	128.0	132.0					3																	184557485		1851	4086	5937	SO:0001630	splice_region_variant	23355						zinc ion binding	g.chr3:184557485G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.481-1G>A	3.37:g.184557485G>A						VPS8_uc010hyd.1_Splice_Site_p.A161_splice|VPS8_uc003fpc.1_3'UTR	p.A161_splice	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		7	652	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)							A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Splice_Site	SNP	ENST00000437079.3	37	c.481_splice	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644311	0.87859	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8801	0.92352	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS8	186040179	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.815000	0.91973	2.756000	0.94617	0.563000	0.77884	.		0.358	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015303	Intron	7	12	0	0	0	0.038147	0	7	12		
TFRC	7037	broad.mit.edu	37	3	195794923	195794923	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:195794923C>T	ENST00000360110.4	-	8	1049	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	TFRC_ENST00000392396.3_Missense_Mutation_p.E294K|TFRC_ENST00000535031.1_Missense_Mutation_p.E12K|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.E213K	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	294	PA.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.E294K(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	AATGAAAGTTCTGCGTTAACA	0.353			T	BCL6	NHL																																	uc003fvz.3		NaN		Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(880-882)GAA>AAA		transferrin receptor							127.0	121.0	123.0					3																	195794923		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195794923C>T	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.880G>A	3.37:g.195794923C>T	ENSP00000353224:p.Glu294Lys					TFRC_uc003fwa.3_Missense_Mutation_p.E294K|TFRC_uc010hzy.2_Missense_Mutation_p.E213K|TFRC_uc011btr.1_Missense_Mutation_p.E12K	p.E294K	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	8	1163	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		294			Extracellular (Potential).|PA.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.880G>A	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	6.735	0.504387	0.12822	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.57273	3.14;3.14;3.14;0.41	5.85	-2.4	0.06583	.	1.802360	0.02114	N	0.055070	T	0.37945	0.1022	N	0.21240	0.645	0.19300	N	0.999976	B	0.09022	0.002	B	0.06405	0.002	T	0.25847	-1.0120	10	0.48119	T	0.1	-0.7375	6.5136	0.22236	0.0:0.2753:0.2338:0.4909	.	294	P02786	TFR1_HUMAN	K	294;213;294;12	ENSP00000353224:E294K;ENSP00000390133:E213K;ENSP00000376197:E294K;ENSP00000437753:E12K	ENSP00000353224:E294K	E	-	1	0	TFRC	197279320	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-0.781000	0.04648	-0.595000	0.05828	0.557000	0.71058	GAA		0.353	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1				7	33	0	0	0	0.02938	0	7	33		
HTRA3	94031	broad.mit.edu	37	4	8288305	8288305	+	Missense_Mutation	SNP	G	G	A	rs201529995		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:8288305G>A	ENST00000307358.2	+	3	707	c.503G>A	c.(502-504)cGc>cAc	p.R168H	HTRA3_ENST00000382512.3_Missense_Mutation_p.R168H	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	168					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R168H(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CTGTTTGGCCGCAACGTGCCC	0.662													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16899	0.0		0.0	False		,,,				2504	0.0					uc003gla.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(502-504)CGC>CAC		HtrA serine peptidase 3 precursor							92.0	93.0	93.0					4																	8288305		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8288305G>A	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.503G>A	4.37:g.8288305G>A	ENSP00000303766:p.Arg168His					HTRA3_uc003gkz.2_Missense_Mutation_p.R168H	p.R168H	NM_053044	NP_444272	P83110	HTRA3_HUMAN			3	707	+			168					Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.503G>A	CCDS3400.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.75	2.925214	0.52759	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	D;D	0.88277	-2.36;-2.36	4.08	3.23	0.37069	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.64402	D	0.000002	D	0.84502	0.5486	M	0.69358	2.11	0.58432	D	0.999999	B;P	0.34615	0.125;0.459	B;B	0.25140	0.027;0.058	T	0.81965	-0.0691	10	0.66056	D	0.02	-19.0596	9.0858	0.36581	0.182:0.0:0.818:0.0	.	168;168	P83110;P83110-2	HTRA3_HUMAN;.	H	168	ENSP00000303766:R168H;ENSP00000371952:R168H	ENSP00000303766:R168H	R	+	2	0	HTRA3	8339205	1.000000	0.71417	0.927000	0.36925	0.983000	0.72400	5.067000	0.64357	0.700000	0.31782	0.462000	0.41574	CGC		0.662	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1		NM_053044		16	64	0	0	0	0.043863	0	16	64		
METAP1	23173	broad.mit.edu	37	4	99982412	99982412	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:99982412G>C	ENST00000296411.6	+	11	1239	c.1105G>C	c.(1105-1107)Gaa>Caa	p.E369Q	METAP1_ENST00000544031.1_Missense_Mutation_p.E319Q	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	369					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)	p.E369Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CACTGGCTGTGAAATCCTAAC	0.512																																						uc003huf.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1105-1107)GAA>CAA		methionyl aminopeptidase 1							136.0	141.0	140.0					4																	99982412		1968	4154	6122	SO:0001583	missense	23173				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr4:99982412G>C	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.1105G>C	4.37:g.99982412G>C	ENSP00000296411:p.Glu369Gln					METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_RNA	p.E369Q	NM_015143	NP_055958	P53582	AMPM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)	11	1222	+			369					B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	37	c.1105G>C	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079488	0.55753	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133;ENST00000514051	.	.	.	4.78	4.78	0.61160	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	M	0.87682	2.9	0.80722	D	1	D	0.55385	0.971	P	0.55749	0.783	T	0.82325	-0.0513	8	.	.	.	-14.9512	17.9927	0.89172	0.0:0.0:1.0:0.0	.	369	P53582	AMPM1_HUMAN	Q	369;319;153;99	.	.	E	+	1	0	METAP1	100201435	1.000000	0.71417	0.907000	0.35723	0.024000	0.10985	9.408000	0.97327	2.458000	0.83093	0.655000	0.94253	GAA		0.512	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1		NM_015143		25	59	0	0	0	0.076483	0	25	59		
TET2	54790	broad.mit.edu	37	4	106156496	106156496	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:106156496C>G	ENST00000540549.1	+	3	2257	c.1397C>G	c.(1396-1398)tCt>tGt	p.S466C	TET2_ENST00000513237.1_Missense_Mutation_p.S487C|TET2_ENST00000545826.1_Missense_Mutation_p.S466C|TET2_ENST00000394764.1_Missense_Mutation_p.S466C|TET2_ENST00000305737.2_Missense_Mutation_p.S466C|TET2_ENST00000413648.2_Missense_Mutation_p.S466C|TET2_ENST00000380013.4_Missense_Mutation_p.S466C			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	466					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.S466C(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCTAATCCATCTACACATGTA	0.458			"""Mis N, F"""		MDS																																	uc003hxk.2		NaN		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		2	Substitution - Missense(2)		urinary_tract(2)	haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(1396-1398)TCT>TGT		tet oncogene family member 2 isoform a							125.0	115.0	119.0					4																	106156496		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156496C>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1397C>G	4.37:g.106156496C>G	ENSP00000442788:p.Ser466Cys					TET2_uc011cez.1_Missense_Mutation_p.S487C|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.S466C|TET2_uc003hxi.1_Missense_Mutation_p.S466C	p.S466C	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1783	+		Myeloproliferative disorder(5;0.0393)	466					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1397C>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	7.670	0.686776	0.14973	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.04970	3.52;4.23;3.52;4.22;4.23;3.52;3.54	4.65	4.65	0.58169	.	6.955970	0.00166	N	0.000007	T	0.16257	0.0391	L	0.32530	0.975	0.09310	N	1	D;D;D	0.59767	0.957;0.957;0.986	P;P;P	0.57720	0.58;0.58;0.826	T	0.35351	-0.9792	10	0.72032	D	0.01	.	11.0818	0.48064	0.0:0.7961:0.2039:0.0	.	487;466;466	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	C	466;466;466;487;466;466;466;466	ENSP00000306705:S466C;ENSP00000442788:S466C;ENSP00000442867:S466C;ENSP00000425443:S487C;ENSP00000369351:S466C;ENSP00000378245:S466C;ENSP00000391448:S466C	ENSP00000265149:S466C	S	+	2	0	TET2	106375945	0.009000	0.17119	0.007000	0.13788	0.093000	0.18481	2.320000	0.43797	2.402000	0.81655	0.650000	0.86243	TCT		0.458	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628		13	35	0	0	0	0.09319	0	13	35		
TET2	54790	broad.mit.edu	37	4	106156625	106156625	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:106156625C>G	ENST00000540549.1	+	3	2386	c.1526C>G	c.(1525-1527)tCa>tGa	p.S509*	TET2_ENST00000513237.1_Nonsense_Mutation_p.S530*|TET2_ENST00000545826.1_Nonsense_Mutation_p.S509*|TET2_ENST00000394764.1_Nonsense_Mutation_p.S509*|TET2_ENST00000305737.2_Nonsense_Mutation_p.S509*|TET2_ENST00000413648.2_Nonsense_Mutation_p.S509*|TET2_ENST00000380013.4_Nonsense_Mutation_p.S509*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	509					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.S509*(6)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGACCAATGTCAGAACACCTC	0.433			"""Mis N, F"""		MDS																																	uc003hxk.2		NaN		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		6	Substitution - Nonsense(6)	p.S509*(3)	haematopoietic_and_lymphoid_tissue(4)|urinary_tract(2)	haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(1525-1527)TCA>TGA		tet oncogene family member 2 isoform a							76.0	73.0	74.0					4																	106156625		2203	4300	6503	SO:0001587	stop_gained	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156625C>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1526C>G	4.37:g.106156625C>G	ENSP00000442788:p.Ser509*					TET2_uc011cez.1_Nonsense_Mutation_p.S530*|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Nonsense_Mutation_p.S509*|TET2_uc003hxi.1_Nonsense_Mutation_p.S509*	p.S509*	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1912	+		Myeloproliferative disorder(5;0.0393)	509					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	c.1526C>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	36	5.869877	0.97049	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.1972	0.86895	0.0:1.0:0.0:0.0	.	.	.	.	X	509;509;509;530;509;509;509;509	.	ENSP00000265149:S509X	S	+	2	0	TET2	106376074	0.521000	0.26258	0.573000	0.28510	0.069000	0.16628	3.659000	0.54489	2.490000	0.84030	0.650000	0.86243	TCA		0.433	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628		11	37	0	0	0	0.069234	0	11	37		
RAPGEF2	9693	broad.mit.edu	37	4	160253617	160253617	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:160253617C>T	ENST00000264431.4	+	11	1839	c.1420C>T	c.(1420-1422)Cta>Tta	p.L474L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	474					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.L462L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TAAAGAACTTCTAACAAGATT	0.358																																						uc003iqg.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1420-1422)CTA>TTA		Rap guanine nucleotide exchange factor 2							60.0	59.0	59.0					4																	160253617		1803	4073	5876	SO:0001819	synonymous_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160253617C>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1420C>T	4.37:g.160253617C>T							p.L474L	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	11	1730	+	all_hematologic(180;0.24)		474					D3DP27	Silent	SNP	ENST00000264431.4	37	c.1420C>T	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	7.945	0.743701	0.15642	.	.	ENSG00000109756	ENST00000512056	.	.	.	5.63	4.61	0.57282	.	.	.	.	.	T	0.64649	0.2617	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61964	-0.6954	4	.	.	.	.	13.1894	0.59702	0.0:0.8789:0.0:0.1211	.	.	.	.	F	111	.	.	S	+	2	0	RAPGEF2	160473067	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.825000	0.48096	2.650000	0.89964	0.655000	0.94253	TCT		0.358	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2		NM_014247		18	43	0	0	0	0.049695	0	18	43		
CPE	1363	broad.mit.edu	37	4	166414359	166414359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:166414359C>T	ENST00000402744.4	+	7	1430	c.1150C>T	c.(1150-1152)Caa>Taa	p.Q384*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	384					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.Q384*(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCGAGACCTTCAAGGTAACCC	0.408											OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003irg.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1150-1152)CAA>TAA		carboxypeptidase E preproprotein	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						111.0	104.0	106.0					4																	166414359		2203	4300	6503	SO:0001587	stop_gained	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166414359C>T	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1150C>T	4.37:g.166414359C>T	ENSP00000386104:p.Gln384*		OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1854		p.Q384*	NM_001873	NP_001864	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	7	1427	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	384					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Nonsense_Mutation	SNP	ENST00000402744.4	37	c.1150C>T	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	36	5.897523	0.97081	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	.	.	.	5.78	5.78	0.91487	.	0.111419	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-19.9363	20.3681	0.98887	0.0:1.0:0.0:0.0	.	.	.	.	X	384;348	.	ENSP00000261510:Q348X	Q	+	1	0	CPE	166633809	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	7.181000	0.77682	2.890000	0.99128	0.655000	0.94253	CAA		0.408	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2		NM_001873		13	36	0	0	0	0.028581	0	13	36		
UFSP2	55325	broad.mit.edu	37	4	186334999	186334999	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:186334999G>T	ENST00000264689.6	-	7	828	c.712C>A	c.(712-714)Cac>Aac	p.H238N	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'Flank	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	238						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)	p.H238N(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGTCTGTCGTGAGGCAGATTG	0.333																																						uc003ixo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(712-714)CAC>AAC		UFM1-specific peptidase 2							108.0	106.0	107.0					4																	186334999		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186334999G>T	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.712C>A	4.37:g.186334999G>T	ENSP00000264689:p.His238Asn					UFSP2_uc003ixn.2_Missense_Mutation_p.H128N|UFSP2_uc003ixq.2_Missense_Mutation_p.H128N|UFSP2_uc003ixp.2_RNA	p.H238N	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	7	829	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	238					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.712C>A	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.17|10.17	1.277201|1.277201	0.23307|0.23307	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000264689|ENST00000511485	T|.	0.28895|.	1.59|.	6.17|6.17	5.34|5.34	0.76211|0.76211	.|.	0.615568|.	0.17458|.	N|.	0.173545|.	T|.	0.35451|.	0.0932|.	L|L	0.29908|0.29908	0.895|0.895	0.21386|0.21386	N|N	0.999704|0.999704	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.06405|.	0.001;0.002|.	T|.	0.24083|.	-1.0170|.	10|.	0.28530|.	T|.	0.3|.	-8.9253|-8.9253	10.0153|10.0153	0.42011|0.42011	0.1885:0.0:0.8115:0.0|0.1885:0.0:0.8115:0.0	.|.	238;138|.	Q9NUQ7;B3KRI4|.	UFSP2_HUMAN;.|.	N|X	238|151	ENSP00000264689:H238N|.	ENSP00000264689:H238N|.	H|S	-|-	1|2	0|0	UFSP2|UFSP2	186571993|186571993	0.491000|0.491000	0.26019|0.26019	1.000000|1.000000	0.80357|0.80357	0.896000|0.896000	0.52359|0.52359	1.719000|1.719000	0.38011|0.38011	1.635000|1.635000	0.50512|0.50512	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.333	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2		NM_018359		26	31	1	0	1.1804e-14	0.0918	1.23858e-14	26	31		
NIPBL	25836	broad.mit.edu	37	5	36985880	36985880	+	Silent	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:36985880A>G	ENST00000282516.8	+	10	3097	c.2598A>G	c.(2596-2598)ctA>ctG	p.L866L	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.L866L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	866					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.L866L(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTGATAAACTAGAACGAAAAC	0.413																																						uc003jkl.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(2596-2598)CTA>CTG		delangin isoform A							48.0	48.0	48.0					5																	36985880		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985880A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2598A>G	5.37:g.36985880A>G						NIPBL_uc003jkk.3_Silent_p.L866L|NIPBL_uc003jkm.1_Silent_p.L745L	p.L866L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3097	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		866					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.2598A>G	CCDS3920.1																																																																																				0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384		14	20	0	0	0	0.020292	0	14	20		
PCDHA6	56142	broad.mit.edu	37	5	140209470	140209470	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:140209470C>T	ENST00000529310.1	+	1	1908	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D598D(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGTTGACGCCGACTCAG	0.667																																						uc003lho.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1792-1794)GAC>GAT		protocadherin alpha 6 isoform 1 precursor							88.0	88.0	88.0					5																	140209470		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209470C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1794C>T	5.37:g.140209470C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.D598D	p.D598D	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1821	+			598			Cadherin 6.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1794C>T	CCDS47281.1																																																																																				0.667	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		NM_018909		3	54	0	0	0	0.009096	0	3	54		
IL17B	27190	broad.mit.edu	37	5	148754143	148754143	+	Missense_Mutation	SNP	C	C	T	rs373011468		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:148754143C>T	ENST00000261796.3	-	3	382	c.332G>A	c.(331-333)cGt>cAt	p.R111H	RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	111					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.R111H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGGATACGGCTGGGGTC	0.627																																						uc003lqo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(331-333)CGT>CAT		interleukin 17B precursor		C	HIS/ARG	2,4394		0,2,2196	26.0	26.0	26.0		332	4.7	1.0	5		26	1,8563		0,1,4281	no	missense	IL17B	NM_014443.2	29	0,3,6477	TT,TC,CC		0.0117,0.0455,0.0231	probably-damaging	111/181	148754143	3,12957	2198	4282	6480	SO:0001583	missense	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148754143C>T	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.332G>A	5.37:g.148754143C>T	ENSP00000261796:p.Arg111His						p.R111H	NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	382	-			111					Q14CE5	Missense_Mutation	SNP	ENST00000261796.3	37	c.332G>A	CCDS4297.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233877	0.58886	4.55E-4	1.17E-4	ENSG00000127743	ENST00000261796	T	0.70045	-0.45	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000003	D	0.84772	0.5546	M	0.88181	2.935	0.49582	D	0.9998	D	0.89917	1.0	D	0.87578	0.998	D	0.88185	0.2873	10	0.87932	D	0	-20.7251	17.807	0.88604	0.0:1.0:0.0:0.0	.	111	Q9UHF5	IL17B_HUMAN	H	111	ENSP00000261796:R111H	ENSP00000261796:R111H	R	-	2	0	IL17B	148734336	1.000000	0.71417	0.960000	0.40013	0.070000	0.16714	5.794000	0.69067	2.423000	0.82170	0.561000	0.74099	CGT		0.627	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1		NM_014443		6	21	0	0	0	0.021553	0	6	21		
SYNPO	11346	broad.mit.edu	37	5	150028061	150028061	+	Missense_Mutation	SNP	C	C	T	rs200631093		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:150028061C>T	ENST00000394243.1	+	3	1330	c.956C>T	c.(955-957)tCg>tTg	p.S319L	SYNPO_ENST00000522122.1_Missense_Mutation_p.S319L|SYNPO_ENST00000519664.1_Missense_Mutation_p.S75L|SYNPO_ENST00000307662.4_Missense_Mutation_p.S75L|SYNPO_ENST00000518872.1_Intron	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	319					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)	p.S75L(1)|p.S319L(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCTTGCCTCGCCCAGTGCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		16958	0.0		0.0	False		,,,				2504	0.001					uc003lsn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)	1						c.(955-957)TCG>TTG		synaptopodin isoform B		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	163.0	143.0	150.0		224,956,956,224	4.3	0.3	5		150	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SYNPO	NM_007286.5,NM_001166209.1,NM_001166208.1,NM_001109974.2	145,145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	75/904,319/930,319/930,75/686	150028061	1,13005	2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150028061C>T	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.956C>T	5.37:g.150028061C>T	ENSP00000377789:p.Ser319Leu					SYNPO_uc003lso.3_Missense_Mutation_p.S75L|SYNPO_uc003lsp.2_Missense_Mutation_p.S75L	p.S319L	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1330	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	319					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.956C>T	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497490	0.26861	0.0	1.16E-4	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.26957	1.7;1.7;1.74	5.35	4.28	0.50868	.	0.398720	0.19003	N	0.125261	T	0.16471	0.0396	N	0.20986	0.625	0.09310	N	1	B;B	0.20887	0.022;0.049	B;B	0.14578	0.007;0.011	T	0.08743	-1.0707	10	0.59425	D	0.04	-9.647	8.4354	0.32784	0.0:0.8456:0.0:0.1544	.	75;319	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	L	319;319;75;75	ENSP00000377789:S319L;ENSP00000428378:S319L;ENSP00000429268:S75L	ENSP00000302139:S75L	S	+	2	0	SYNPO	150008254	0.074000	0.21230	0.309000	0.25155	0.848000	0.48234	2.047000	0.41269	2.506000	0.84524	0.561000	0.74099	TCG		0.607	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1		NM_007286		44	93	0	0	0	0.11126	0	44	93		
PPP1R18	170954	broad.mit.edu	37	6	30653297	30653297	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:30653297G>T	ENST00000274853.3	-	1	2375	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	PPP1R18_ENST00000399199.3_Missense_Mutation_p.L167M|PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	167						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L167M(1)									CGAGCCTCCAGAGGCCTCAGG	0.602																																						uc003nra.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(499-501)CTG>ATG		phostensin							173.0	188.0	183.0					6																	30653297		1200	2511	3711	SO:0001583	missense	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653297G>T	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.499C>A	6.37:g.30653297G>T	ENSP00000274853:p.Leu167Met					KIAA1949_uc003nrb.3_Missense_Mutation_p.L167M	p.L167M	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN			2	730	-			167					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	c.499C>A	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	G	7.502	0.652892	0.14580	.	.	ENSG00000146112	ENST00000274853;ENST00000399199;ENST00000376424	T;T	0.26373	1.74;1.74	4.98	-4.89	0.03103	.	1.813580	0.03839	N	0.270261	T	0.05686	0.0149	N	0.19112	0.55	0.09310	N	1	P	0.39216	0.664	B	0.35353	0.201	T	0.31392	-0.9945	10	0.56958	D	0.05	3.5612	9.2246	0.37398	0.2028:0.5589:0.2383:0.0	.	167	Q6NYC8	PPR18_HUMAN	M	167	ENSP00000274853:L167M;ENSP00000382150:L167M	ENSP00000274853:L167M	L	-	1	2	KIAA1949	30761276	0.000000	0.05858	0.015000	0.15790	0.424000	0.31475	-0.714000	0.05002	-0.562000	0.06086	-1.291000	0.01355	CTG		0.602	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2		NM_133471		65	127	1	0	1.40369e-38	0.048971	1.49392e-38	65	127		
RNF5	6048	broad.mit.edu	37	6	32148014	32148014	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:32148014C>T	ENST00000375094.3	+	6	612	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|AGPAT1_ENST00000336984.6_5'Flank|RNF5_ENST00000427134.2_Intron|AGPAT1_ENST00000375104.2_5'Flank	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	152					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L152L(1)		endometrium(1)|lung(7)|urinary_tract(2)	10						AGGTGTGGATCTGGGACAGGG	0.562																																						uc003oaj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(454-456)CTG>TTG		ring finger protein 5							232.0	249.0	243.0					6																	32148014		1511	2709	4220	SO:0001819	synonymous_variant	6048				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:32148014C>T	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.454C>T	6.37:g.32148014C>T						AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank	p.L152L	NM_006913	NP_008844	Q99942	RNF5_HUMAN			6	581	+			152					A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Silent	SNP	ENST00000375094.3	37	c.454C>T	CCDS4745.1																																																																																				0.562	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2		NM_006913		83	175	0	0	0	0.048971	0	83	175		
COL19A1	1310	broad.mit.edu	37	6	70875870	70875870	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:70875870G>C	ENST00000322773.4	+	37	2540	c.2438G>C	c.(2437-2439)gGa>gCa	p.G813A	COL19A1_ENST00000393344.1_Missense_Mutation_p.G435A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	813	Collagen-like 8.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G813A(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCACCTGGACCACCTGTG	0.428																																						uc003pfc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)	4						c.(2437-2439)GGA>GCA		alpha 1 type XIX collagen precursor							85.0	93.0	91.0					6																	70875870		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70875870G>C		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2438G>C	6.37:g.70875870G>C	ENSP00000316030:p.Gly813Ala					COL19A1_uc010kam.1_Missense_Mutation_p.G709A	p.G813A	NM_001858	NP_001849	Q14993	COJA1_HUMAN			37	2555	+			813			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2438G>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592637	0.66219	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.96554	-4.05;-4.05	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	H	0.95043	3.615	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.98645	1.0677	10	0.54805	T	0.06	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	813	Q14993	COJA1_HUMAN	A	813;435	ENSP00000316030:G813A;ENSP00000377013:G435A	ENSP00000316030:G813A	G	+	2	0	COL19A1	70932591	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.488000	0.73637	2.894000	0.99253	0.655000	0.94253	GGA		0.428	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1				3	136	0	0	0	0.004672	0	3	136		
B3GAT2	135152	broad.mit.edu	37	6	71665793	71665793	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:71665793T>C	ENST00000230053.6	-	1	948	c.340A>G	c.(340-342)Atc>Gtc	p.I114V		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	114					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)	p.I114V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TCCACCAGGATCCAGTGCAGC	0.721																																						uc003pfv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(340-342)ATC>GTC		beta-1,3-glucuronyltransferase 2							17.0	19.0	19.0					6																	71665793		2196	4289	6485	SO:0001583	missense	135152				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr6:71665793T>C	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.340A>G	6.37:g.71665793T>C	ENSP00000230053:p.Ile114Val					B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.I114V	p.I114V	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN			1	996	-			114			Lumenal (Potential).		Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	ENST00000230053.6	37	c.340A>G	CCDS4974.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776608	0.49786	.	.	ENSG00000112309	ENST00000230053	T	0.55234	0.53	4.37	4.37	0.52481	.	0.108386	0.64402	D	0.000008	T	0.35219	0.0924	L	0.60845	1.875	0.80722	D	1	B;B	0.27853	0.056;0.191	B;B	0.34536	0.014;0.185	T	0.39292	-0.9621	10	0.44086	T	0.13	-33.2894	8.9227	0.35621	0.0:0.0904:0.0:0.9096	.	114;114	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	V	114	ENSP00000230053:I114V	ENSP00000230053:I114V	I	-	1	0	B3GAT2	71722514	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.959000	0.40412	1.827000	0.53221	0.528000	0.53228	ATC		0.721	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2		NM_080742		5	10	0	0	0	0.021553	0	5	10		
LAMA2	3908	broad.mit.edu	37	6	129691106	129691106	+	Missense_Mutation	SNP	G	G	A	rs182762857	byFrequency	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:129691106G>A	ENST00000421865.2	+	34	4979	c.4930G>A	c.(4930-4932)Gtg>Atg	p.V1644M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1644	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.V1644M(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATACACTCGTGACCGAAAT	0.433													G|||	2	0.000399361	0.0	0.0	5008	,	,		17855	0.002		0.0	False		,,,				2504	0.0					uc003qbn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(1)|skin(1)	10						c.(4930-4932)GTG>ATG		laminin alpha 2 subunit isoform a precursor							78.0	79.0	79.0					6																	129691106		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129691106G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4930G>A	6.37:g.129691106G>A	ENSP00000400365:p.Val1644Met					LAMA2_uc003qbo.2_Missense_Mutation_p.V1644M	p.V1644M	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	34	5035	+			1644			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4930G>A	CCDS5138.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	14.72	2.618689	0.46736	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.10099	2.91	5.98	4.21	0.49690	Laminin I (1);	0.130487	0.51477	D	0.000090	T	0.11281	0.0275	L	0.34521	1.04	0.44129	D	0.996915	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.919	T	0.03278	-1.1053	10	0.46703	T	0.11	.	12.3486	0.55134	0.1377:0.0:0.8623:0.0	.	1644;1644	A6NF00;P24043	.;LAMA2_HUMAN	M	1644	ENSP00000400365:V1644M	ENSP00000346769:V1644M	V	+	1	0	LAMA2	129732799	1.000000	0.71417	0.057000	0.19452	0.024000	0.10985	3.904000	0.56325	0.864000	0.35578	0.655000	0.94253	GTG		0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				29	31	0	0	0	0.034045	0	29	31		
SYNE1	23345	broad.mit.edu	37	6	152668238	152668238	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:152668238C>T	ENST00000367255.5	-	73	12635	c.12034G>A	c.(12034-12036)Ggc>Agc	p.G4012S	SYNE1_ENST00000423061.1_Missense_Mutation_p.G3941S|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.G4012S|SYNE1_ENST00000448038.1_Missense_Mutation_p.G3941S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4012					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)	p.G4012S(2)|p.G3941S(1)		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)		TCCTTTGTGCCCTGCAGATGA	0.493										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12034-12036)GGC>AGC		spectrin repeat containing, nuclear envelope 1							181.0	151.0	161.0					6																	152668238		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152668238C>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.12034G>A	6.37:g.152668238C>T	ENSP00000356224:p.Gly4012Ser	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.G3941S|SYNE1_uc003qou.3_Missense_Mutation_p.G4012S|SYNE1_uc010kja.1_Missense_Mutation_p.G717S	p.G4012S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	73	12636	-		Ovarian(120;0.0955)	4012			Spectrin 10.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12034G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283071	0.40394	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000010	T	0.46171	0.1379	M	0.66939	2.045	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.0	D;D;D;B	0.91635	0.999;0.999;0.999;0.001	T	0.08743	-1.0707	10	0.18710	T	0.47	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	4012;4012;4012;3941	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	4012;3941;4012;3941	ENSP00000356224:G4012S;ENSP00000396024:G3941S;ENSP00000265368:G4012S;ENSP00000390975:G3941S	ENSP00000265368:G4012S	G	-	1	0	SYNE1	152709931	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	7.441000	0.80485	2.793000	0.96121	0.655000	0.94253	GGC		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		12	39	0	0	0	0.020292	0	12	39		
LPA	4018	broad.mit.edu	37	6	161007642	161007642	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:161007642C>T	ENST00000316300.5	-	25	4012	c.3968G>A	c.(3967-3969)tGc>tAc	p.C1323Y	LPA_ENST00000447678.1_Missense_Mutation_p.C1323Y			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3831	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.C1323Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGATTCCTGCAGTAGTTCCT	0.483																																						uc003qtl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(3967-3969)TGC>TAC		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						95.0	95.0	95.0					6																	161007642		2188	4297	6485	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161007642C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3968G>A	6.37:g.161007642C>T	ENSP00000321334:p.Cys1323Tyr						p.C1323Y	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	26	4088	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3831			Kringle 34.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3968G>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	13.57	2.275693	0.40294	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.98164	-4.76;-4.76	2.56	2.56	0.30785	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.99408	0.9791	H	0.99838	4.83	0.47994	D	0.999561	D	0.58970	0.984	D	0.76071	0.987	D	0.98059	1.0392	9	0.72032	D	0.01	.	10.8047	0.46509	0.0:1.0:0.0:0.0	.	3831	P08519	APOA_HUMAN	Y	1323	ENSP00000321334:C1323Y;ENSP00000395608:C1323Y	ENSP00000321334:C1323Y	C	-	2	0	LPA	160927632	1.000000	0.71417	0.989000	0.46669	0.496000	0.33645	5.558000	0.67319	1.415000	0.47037	0.436000	0.28706	TGC		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1		NM_005577		19	47	0	0	0	0.038395	0	19	47		
CRHR2	1395	broad.mit.edu	37	7	30721547	30721547	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:30721547G>C	ENST00000471646.1	-	2	630	c.213C>G	c.(211-213)gtC>gtG	p.V71V	CRHR2_ENST00000348438.4_Silent_p.V98V|CRHR2_ENST00000506074.2_Silent_p.V71V|CRHR2_ENST00000341843.4_Silent_p.V57V	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	71					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.V71V(1)|p.V57V(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTTGTACTTGACGCCGTTGA	0.647																																						uc003tbn.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(2)|ovary(1)|skin(1)	4						c.(211-213)GTC>GTG		corticotropin releasing hormone receptor 2							35.0	33.0	34.0					7																	30721547		2203	4300	6503	SO:0001819	synonymous_variant	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30721547G>C		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.213C>G	7.37:g.30721547G>C						CRHR2_uc010kvw.1_Silent_p.V71V|CRHR2_uc010kvx.1_Silent_p.V71V|CRHR2_uc010kvy.1_5'UTR|CRHR2_uc003tbo.2_Silent_p.V57V|CRHR2_uc003tbp.2_Silent_p.V98V|CRHR2_uc010kvz.1_RNA|CRHR2_uc003tbq.1_RNA	p.V71V	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			2	457	-			71			Extracellular (Potential).		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	c.213C>G	CCDS5429.1																																																																																				0.647	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3				10	17	0	0	0	0.105934	0	10	17		
MRPS17	51373	broad.mit.edu	37	7	56022649	56022649	+	Silent	SNP	G	G	A	rs377481551		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:56022649G>A	ENST00000285298.4	+	3	300	c.171G>A	c.(169-171)caG>caA	p.Q57Q	MRPS17_ENST00000426595.1_Silent_p.Q152Q	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	57					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.Q57Q(1)		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)			CCCTTCAGCAGTGCACAGTTG	0.443																																						uc003trd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(169-171)CAG>CAA		mitochondrial ribosomal protein S17 precursor							239.0	249.0	246.0					7																	56022649		2203	4300	6503	SO:0001819	synonymous_variant	51373				translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr7:56022649G>A	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.171G>A	7.37:g.56022649G>A						MRPS17_uc003trb.2_Silent_p.Q152Q	p.Q57Q	NM_015969	NP_057053	Q9Y2R5	RT17_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	201	+	Breast(14;0.214)		57					Q86X15	Silent	SNP	ENST00000285298.4	37	c.171G>A	CCDS5520.1																																																																																				0.443	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251527.2		NM_015969		88	212	0	0	0	0.048971	0	88	212		
TBXAS1	6916	broad.mit.edu	37	7	139636073	139636073	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:139636073G>A	ENST00000336425.5	+	9	806	c.417G>A	c.(415-417)ctG>ctA	p.L139L	TBXAS1_ENST00000263552.6_Silent_p.L140L|TBXAS1_ENST00000425687.1_Silent_p.L72L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000411653.1_Silent_p.L139L|TBXAS1_ENST00000448866.1_Silent_p.L139L|TBXAS1_ENST00000458722.1_Silent_p.L139L|TBXAS1_ENST00000414508.2_Silent_p.L140L|TBXAS1_ENST00000436047.2_Silent_p.L140L|TBXAS1_ENST00000416849.2_Silent_p.L140L			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	139					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.L140L(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GAGGTGCCCTGATGTCTGCTT	0.473																																						uc011kqv.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|breast(1)	3						c.(418-420)CTG>CTA		thromboxane A synthase 1, platelet isoform							196.0	195.0	195.0					7																	139636073		2203	4300	6503	SO:0001819	synonymous_variant	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139636073G>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.417G>A	7.37:g.139636073G>A						TBXAS1_uc003vvh.2_Silent_p.L140L|TBXAS1_uc010lne.2_Silent_p.L72L|TBXAS1_uc011kqu.1_Silent_p.L91L|TBXAS1_uc003vvi.2_Silent_p.L140L|TBXAS1_uc003vvj.2_Silent_p.L140L|TBXAS1_uc011kqw.1_Silent_p.L120L	p.L140L	NM_001130966	NP_001124438	P24557	THAS_HUMAN			5	584	+	Melanoma(164;0.0142)		139			Cytoplasmic (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Silent	SNP	ENST00000336425.5	37	c.420G>A																																																																																					0.473	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1				65	134	0	0	0	0.048971	0	65	134		
ZNF777	27153	broad.mit.edu	37	7	149129112	149129112	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:149129112C>T	ENST00000247930.4	-	6	2574	c.2251G>A	c.(2251-2253)Gcc>Acc	p.A751T		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A751T(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCGGGGCAGGCGTGCGGCCGC	0.682																																						uc003wfv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2251-2253)GCC>ACC		zinc finger protein 777							46.0	53.0	50.0					7																	149129112		2201	4298	6499	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129112C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.2251G>A	7.37:g.149129112C>T	ENSP00000247930:p.Ala751Thr						p.A751T	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2414	-	Melanoma(164;0.165)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.2251G>A	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	1.065	-0.671673	0.03403	.	.	ENSG00000196453	ENST00000247930	T	0.16073	2.37	4.31	3.41	0.39046	.	.	.	.	.	T	0.08582	0.0213	.	.	.	0.29774	N	0.83452	P	0.44344	0.833	B	0.28011	0.085	T	0.16188	-1.0411	8	0.40728	T	0.16	-15.9886	5.337	0.15963	0.2037:0.6908:0.0:0.1055	.	751	Q9ULD5-2	.	T	751	ENSP00000247930:A751T	ENSP00000247930:A751T	A	-	1	0	ZNF777	148760045	0.934000	0.31675	1.000000	0.80357	0.071000	0.16799	0.071000	0.14594	0.776000	0.33473	0.313000	0.20887	GCC		0.682	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1		NM_015694		28	44	0	0	0	0.030593	0	28	44		
CSMD1	64478	broad.mit.edu	37	8	3326258	3326258	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr8:3326258G>A	ENST00000520002.1	-	13	2095	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	CSMD1_ENST00000542608.1_Missense_Mutation_p.P513S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P514S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P513S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P513S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P514S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P514S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	514	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.P242S(1)|p.P513S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTAAACCCAGGTGAGCCAATG	0.478																																						uc011kwk.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(20)|large_intestine(5)	25						c.(1540-1542)CCT>TCT		CUB and Sushi multiple domains 1 precursor							63.0	59.0	60.0					8																	3326258		1939	4145	6084	SO:0001583	missense	64478					integral to membrane		g.chr8:3326258G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1540C>T	8.37:g.3326258G>A	ENSP00000430733:p.Pro514Ser						p.P514S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	12	1930	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	514			CUB 3.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1540C>T		.	.	.	.	.	.	.	.	.	.	G	2.855	-0.237422	0.05944	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.14	4.26	0.50523	.	.	.	.	.	T	0.11024	0.0269	N	0.16098	0.37	0.36050	D	0.840693	B	0.18461	0.028	B	0.19666	0.026	T	0.13176	-1.0519	9	0.13470	T	0.59	.	15.7072	0.77592	0.0:0.1375:0.8625:0.0	.	514	E5RIG2	.	S	514;514;376;513;513;513	ENSP00000383047:P514S;ENSP00000430733:P514S;ENSP00000441462:P513S;ENSP00000446243:P513S;ENSP00000441675:P513S	ENSP00000320445:P376S	P	-	1	0	CSMD1	3313666	1.000000	0.71417	0.328000	0.25416	0.249000	0.25844	4.987000	0.63857	1.276000	0.44395	0.551000	0.68910	CCT		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		7	9	0	0	0	0.02938	0	7	9		
FAM120A	23196	broad.mit.edu	37	9	96320268	96320268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:96320268C>T	ENST00000277165.6	+	14	2838	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.Q910*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.Q882*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	882	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.Q882*(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCCACCCTCTCAGGGCAGGGG	0.602																																						uc004atw.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(2644-2646)CAG>TAG		oxidative stress-associated Src activator							30.0	27.0	28.0					9																	96320268		2203	4299	6502	SO:0001587	stop_gained	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96320268C>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2644C>T	9.37:g.96320268C>T	ENSP00000277165:p.Gln882*					FAM120A_uc004aty.2_Nonsense_Mutation_p.Q663*|FAM120A_uc004atz.2_Nonsense_Mutation_p.Q531*|FAM120A_uc010mrg.2_Nonsense_Mutation_p.Q195*	p.Q882*	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			14	2669	+			882			RNA binding.		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Nonsense_Mutation	SNP	ENST00000277165.6	37	c.2644C>T	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	C	36	5.846594	0.97016	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	.	.	.	5.75	5.75	0.90469	.	0.082006	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-5.0048	19.9376	0.97146	0.0:1.0:0.0:0.0	.	.	.	.	X	882;910;882;304	.	ENSP00000277165:Q882X	Q	+	1	0	FAM120A	95360089	1.000000	0.71417	0.956000	0.39512	0.998000	0.95712	7.362000	0.79507	2.711000	0.92665	0.655000	0.94253	CAG		0.602	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2		NM_014612		10	3	0	0	0	0.069234	0	10	3		
KIAA0368	23392	broad.mit.edu	37	9	114152334	114152334	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:114152334A>C	ENST00000338205.5	-	29	3428	c.3209T>G	c.(3208-3210)cTt>cGt	p.L1070R	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.L1248R			Q5VYK3	ECM29_HUMAN	KIAA0368	1076					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.L1248R(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGGCTGGCTAAGATCACTTGC	0.398																																						uc004bfe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3742-3744)CTT>CGT		KIAA0368 protein							58.0	53.0	55.0					9																	114152334		1837	4077	5914	SO:0001583	missense	23392							g.chr9:114152334A>C	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3209T>G	9.37:g.114152334A>C	ENSP00000339889:p.Leu1070Arg						p.L1248R	NM_001080398	NP_001073867					31	3743	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.3743T>G		.	.	.	.	.	.	.	.	.	.	A	24.2	4.501307	0.85176	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66815	-0.23	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.83238	0.5211	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86425	0.1757	10	0.87932	D	0	.	14.9896	0.71377	1.0:0.0:0.0:0.0	.	545	B3KXF2	.	R	1070;1248;545	ENSP00000259335:L1248R	ENSP00000259335:L1248R	L	-	2	0	KIAA0368	113192155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.126000	0.77201	1.943000	0.56356	0.528000	0.53228	CTT		0.398	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2		NM_014686		6	6	0	0	0	0.02938	0	6	6		
USP20	10868	broad.mit.edu	37	9	132614875	132614875	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:132614875T>G	ENST00000315480.4	+	3	199	c.41T>G	c.(40-42)aTa>aGa	p.I14R	USP20_ENST00000358355.1_Missense_Mutation_p.I14R|USP20_ENST00000372429.3_Missense_Mutation_p.I14R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	14					endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.I14R(3)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTTGACTCCATAGGAGAGGTG	0.577																																						uc004bys.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	lung(1)|breast(1)	2						c.(40-42)ATA>AGA		ubiquitin specific protease 20							27.0	29.0	28.0					9																	132614875		1926	4124	6050	SO:0001583	missense	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132614875T>G	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.41T>G	9.37:g.132614875T>G	ENSP00000313811:p.Ile14Arg					USP20_uc004byr.2_Missense_Mutation_p.I14R|USP20_uc004byt.1_Missense_Mutation_p.I14R	p.I14R	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN			3	252	+		Ovarian(14;0.00556)	14					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.41T>G	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.649164	0.67358	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19532	2.14;2.14;2.14	5.69	4.56	0.56223	Zinc finger, RING/FYVE/PHD-type (1);	0.041017	0.85682	D	0.000000	T	0.29945	0.0749	L	0.28274	0.84	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.02705	-1.1121	10	0.45353	T	0.12	.	9.6269	0.39757	0.0:0.0821:0.0:0.9179	.	14	Q9Y2K6	UBP20_HUMAN	R	14	ENSP00000361506:I14R;ENSP00000313811:I14R;ENSP00000351122:I14R	ENSP00000313811:I14R	I	+	2	0	USP20	131654696	1.000000	0.71417	0.825000	0.32803	0.826000	0.46750	7.032000	0.76498	0.994000	0.38892	0.533000	0.62120	ATA		0.577	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2				2	4	0	0	0	0.004672	0	2	4		
IL2RG	3561	broad.mit.edu	37	X	70331308	70331308	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chrX:70331308G>C	ENST00000374202.2	-	1	173	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V	IL2RG_ENST00000374188.3_5'Flank|IL2RG_ENST00000456850.2_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	28					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)	p.L28V(2)		breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TTGGGCGTCAGAATTGTCGTG	0.562									Severe Combined Immunodeficiency, X-linked																													uc004dyw.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(1)	1						c.(82-84)CTG>GTG		interleukin 2 receptor, gamma precursor	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)						172.0	117.0	136.0					X																	70331308		2203	4300	6503	SO:0001583	missense	3561	Severe_Combined_Immunodeficiency_X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70331308G>C	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.82C>G	X.37:g.70331308G>C	ENSP00000363318:p.Leu28Val					IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_5'UTR	p.L28V	NM_000206	NP_000197	P31785	IL2RG_HUMAN			1	96	-	Renal(35;0.156)		28			Extracellular (Potential).		Q5FC12	Missense_Mutation	SNP	ENST00000374202.2	37	c.82C>G	CCDS14406.1	.	.	.	.	.	.	.	.	.	.	G	4.273	0.049785	0.08243	.	.	ENSG00000147168	ENST00000374202;ENST00000374191	D	0.96232	-3.95	5.3	3.48	0.39840	.	1.367040	0.04935	N	0.457519	D	0.92805	0.7712	L	0.32530	0.975	0.19945	N	0.999943	B	0.31318	0.319	B	0.30105	0.111	D	0.84909	0.0847	10	0.48119	T	0.1	-2.4007	5.3188	0.15870	0.1042:0.0:0.6948:0.201	.	28	P31785	IL2RG_HUMAN	V	28	ENSP00000363318:L28V	ENSP00000363306:L28V	L	-	1	2	IL2RG	70248033	0.167000	0.22975	0.002000	0.10522	0.137000	0.21094	0.737000	0.26144	0.573000	0.29400	0.529000	0.55759	CTG		0.562	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2				12	9	0	0	0	0.09319	0	12	9		
WBP5	51186	broad.mit.edu	37	X	102612724	102612724	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chrX:102612724G>A	ENST00000372661.3	+	3	423	c.112G>A	c.(112-114)Gag>Aag	p.E38K	WBP5_ENST00000372656.3_Missense_Mutation_p.E38K	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WBP5_HUMAN	WW domain binding protein 5	38	Glu-rich.							p.E38K(1)		breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						GCTAGAGGAGGAGGCCAAAGC	0.408																																						uc004ekd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(112-114)GAG>AAG		WW domain binding protein 5							121.0	100.0	107.0					X																	102612724		2203	4300	6503	SO:0001583	missense	51186							g.chrX:102612724G>A	BC023544	CCDS14507.1	Xq22.2	2014-03-21			ENSG00000185222	ENSG00000185222			30084	protein-coding gene	gene with protein product	"""pp21 homolog"""					16221301	Standard	NM_001006612		Approved	DKFZp313K1940, TCEAL9, WEX6	uc004ekg.3	Q9UHQ7	OTTHUMG00000022097	ENST00000372661.3:c.112G>A	X.37:g.102612724G>A	ENSP00000361745:p.Glu38Lys					WBP5_uc004eke.2_Missense_Mutation_p.E38K|WBP5_uc004ekf.2_Missense_Mutation_p.E38K|WBP5_uc004ekg.2_Missense_Mutation_p.E38K	p.E38K	NM_001006612	NP_001006613	Q9UHQ7	WPB5_HUMAN			3	413	+			38			Glu-rich.		B2R5H6	Missense_Mutation	SNP	ENST00000372661.3	37	c.112G>A	CCDS14507.1	.	.	.	.	.	.	.	.	.	.	G	7.349	0.622423	0.14193	.	.	ENSG00000185222	ENST00000372661;ENST00000372656	T;T	0.09723	2.95;2.95	3.95	3.07	0.35406	.	0.498978	0.15017	N	0.285202	T	0.08358	0.0208	L	0.36672	1.1	0.25309	N	0.989216	B	0.29936	0.262	B	0.35727	0.209	T	0.33240	-0.9876	10	0.02654	T	1	.	8.4789	0.33030	0.0:0.2328:0.7672:0.0	.	38	Q9UHQ7	WPB5_HUMAN	K	38	ENSP00000361745:E38K;ENSP00000361740:E38K	ENSP00000361740:E38K	E	+	1	0	WBP5	102499380	1.000000	0.71417	0.897000	0.35233	0.149000	0.21700	1.365000	0.34182	0.990000	0.38787	-0.229000	0.12294	GAG		0.408	WBP5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057706.1		NM_016303		21	13	0	0	0	0.055883	0	21	13		
SRPK3	26576	broad.mit.edu	37	X	153049816	153049816	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chrX:153049816C>T	ENST00000370101.3	+	11	1261	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	SRPK3_ENST00000393786.3_Silent_p.I371I|SRPK3_ENST00000370108.3_Silent_p.I372I|SRPK3_ENST00000370100.1_Silent_p.I330I|SRPK3_ENST00000370104.1_Silent_p.I404I|SRPK3_ENST00000489426.1_Silent_p.I472I|IDH3G_ENST00000497043.1_5'Flank	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I371I(1)|p.I472I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATCAAGATCAAGATCGCAG	0.607																																					Esophageal Squamous(167;766 3400 32156)	uc004fil.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(2)|lung(1)	3						c.(1213-1215)ATC>ATT		serine arginine rich protein-specific kinase 3							51.0	46.0	48.0					X																	153049816		2200	4300	6500	SO:0001819	synonymous_variant	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153049816C>T	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1215C>T	X.37:g.153049816C>T						SRPK3_uc004fik.2_Silent_p.I471I|SRPK3_uc010nul.2_Silent_p.I329I|SRPK3_uc004fin.2_Silent_p.I404I|SRPK3_uc004fim.2_Silent_p.I371I	p.I405I	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN			11	1247	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		405			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Silent	SNP	ENST00000370101.3	37	c.1215C>T	CCDS35441.1																																																																																				0.607	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1		NM_014370		8	6	0	0	0	0.038147	0	8	6		
ARID1A	8289	broad.mit.edu	37	1	27099094	27099097	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			CAGT	-	CAGT	CAGT		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:27099094_27099097delCAGT	ENST00000324856.7	+	13	3881_3884	c.3510_3513delCAGT	c.(3508-3513)cacagtfs	p.HS1170fs	ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.HS1170fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.HS787fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1170					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)		CCACACCACACAGTCAGATCCCCC	0.564			"""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.(3508-3513)CACAGTfs		AT rich interactive domain 1A isoform a																																				SO:0001589	frameshift_variant	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.chr1:27099094_27099097delCAGT	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.3510_3513delCAGT	1.37:g.27099094_27099097delCAGT	ENSP00000320485:p.His1170fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.H1170fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.H1170fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.H787fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.H17fs|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank	p.H1170fs	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)	13	3883_3886	+		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)	1170_1171					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.3510_3513delCAGT	CCDS285.1																																																																																				0.564	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		10	36	NaN	NaN	NaN	NaN	NaN	10	36	---	---
ELF3	1999	broad.mit.edu	37	1	201981870	201981871	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:201981870_201981871insT	ENST00000359651.3	+	4	3773_3774	c.581_582insT	c.(580-585)tctgacfs	p.D195fs	ELF3_ENST00000367283.3_Frame_Shift_Ins_p.D195fs|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367284.5_Frame_Shift_Ins_p.D195fs|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CCTGGCAGCTCTGACGTCTCCA	0.663																																						uc001gxg.3		NaN																	0					0						c.(580-582)TCTfs		E74-like factor 3 (ets domain transcription																																				SO:0001589	frameshift_variant	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981870_201981871insT	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.582dupT	1.37:g.201981871_201981871dupT	ENSP00000352673:p.Asp195fs					ELF3_uc001gxi.3_Frame_Shift_Ins_p.S194fs|ELF3_uc001gxh.3_Frame_Shift_Ins_p.S194fs	p.S194fs	NM_004433	NP_004424	P78545	ELF3_HUMAN			4	3773_3774	+			194						Frame_Shift_Ins	INS	ENST00000359651.3	37	c.581_582insT	CCDS1419.1																																																																																				0.663	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		16	31	NaN	NaN	NaN	NaN	NaN	16	31	---	---
TSNAX	7257	broad.mit.edu	37	1	231696991	231696995	+	Frame_Shift_Del	DEL	AAAAT	AAAAT	-	rs369619096		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:231696991_231696995delAAAAT	ENST00000366639.4	+	5	643_647	c.485_489delAAAAT	c.(484-489)gaaaatfs	p.EN162fs	TSNAX-DISC1_ENST00000602962.1_Frame_Shift_Del_p.EN162fs	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	162	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				AATGGGAAAGAAAATAAAACTGTGA	0.273																																						uc001huw.2		NaN																	0					0						c.(484-489)GAAAATfs		translin-associated factor X																																				SO:0001589	frameshift_variant	7257				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding	g.chr1:231696991_231696995delAAAAT	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.485_489delAAAAT	1.37:g.231696991_231696995delAAAAT	ENSP00000355599:p.Glu162fs					TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_Intron|TSNAX-DISC1_uc010pwg.1_Intron|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_5'UTR|TSNAX-DISC1_uc010pwj.1_5'UTR|TSNAX-DISC1_uc010pwk.1_5'UTR|TSNAX-DISC1_uc010pwl.1_Intron	p.E162fs	NM_005999	NP_005990	Q99598	TSNAX_HUMAN			5	643_647	+		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)	162_163			Interaction with C1D.		B1APC6	Frame_Shift_Del	DEL	ENST00000366639.4	37	c.485_489delAAAAT	CCDS1596.1																																																																																				0.273	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2		NM_005999		10	33	NaN	NaN	NaN	NaN	NaN	10	33	---	---
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del|GPALPP1_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						uc001uzq.2		NaN																	0				pancreas(1)|skin(1)	2						c.(250-252)GATdel		hypothetical protein LOC55425				311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	55425							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	p.D88del	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	353_355	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2		NM_018559		7	329	NaN	NaN	NaN	NaN	NaN	7	329	---	---
DHRS7B	25979	broad.mit.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:21094331_21094333delGAA	ENST00000395511.3	+	7	1163_1165	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del	DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_In_Frame_Del_p.K270del	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	285						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507																																						uc002gyo.2		NaN																	0				pancreas(1)	1						c.(841-846)GGGAAG>GGG		dehydrogenase/reductase (SDR family) member 7B																																				SO:0001651	inframe_deletion	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094331_21094333delGAA	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.843_845delGAA	17.37:g.21094340_21094342delGAA	ENSP00000378887:p.Lys285del						p.K285del	NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN			7	870_872	+			285			Peroxisomal (Potential).		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	In_Frame_Del	DEL	ENST00000395511.3	37	c.843_845delGAA	CCDS11215.1																																																																																				0.507	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3		NM_015510		11	1646	NaN	NaN	NaN	NaN	NaN	11	1646	---	---
CASKIN2	57513	broad.mit.edu	37	17	73498817	73498819	+	In_Frame_Del	DEL	AGG	AGG	-	rs555898732	byFrequency	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:73498817_73498819delAGG	ENST00000321617.3	-	18	2922_2924	c.2336_2338delCCT	c.(2335-2340)tcctac>tac	p.S779del	CASKIN2_ENST00000433559.2_In_Frame_Del_p.S697del	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	779	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGCCAAGTAGGAGAAGGCCCA	0.695														5	0.000998403	0.003	0.0014	5008	,	,		7875	0.0		0.0	False		,,,				2504	0.0					uc002joc.2		NaN																	0				pancreas(1)	1						c.(2335-2340)TCCTAC>TAC		cask-interacting protein 2 isoform a			,	10,3828		2,6,1911					,	4.9	1.0			7	6,7744		3,0,3872	no	coding,coding	CASKIN2	NM_020753.3,NM_001142643.1	,	5,6,5783	A1A1,A1R,RR		0.0774,0.2606,0.1381	,	,		16,11572				SO:0001651	inframe_deletion	57513					cytoplasm		g.chr17:73498817_73498819delAGG	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2336_2338delCCT	17.37:g.73498817_73498819delAGG	ENSP00000325355:p.Ser779del					CASKIN2_uc010wsc.1_In_Frame_Del_p.S697del	p.S779del	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2886_2888	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		779			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	In_Frame_Del	DEL	ENST00000321617.3	37	c.2336_2338delCCT	CCDS11723.1																																																																																				0.695	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1		NM_020753		5	9	NaN	NaN	NaN	NaN	NaN	5	9	---	---
IFIH1	64135	broad.mit.edu	37	2	163174805	163174806	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:163174805_163174806insCC	ENST00000263642.2	-	1	407_408	c.12_13insGG	c.(10-15)gggtatfs	p.Y5fs	GCA_ENST00000429691.2_5'Flank|IFIH1_ENST00000421365.2_Frame_Shift_Ins_p.Y5fs	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	5					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TCTGTGGAATACCCATTCGACA	0.53																																						uc002uce.2		NaN																	0				ovary(1)	1						c.(10-15)GGGTATfs		interferon induced with helicase C domain 1																																				SO:0001589	frameshift_variant	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163174805_163174806insCC	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.11_12dupGG	2.37:g.163174806_163174807dupCC	ENSP00000263642:p.Tyr5fs					IFIH1_uc002ucf.2_Frame_Shift_Ins_p.G4fs	p.G4fs	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			1	234_235	-			4_5					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Frame_Shift_Ins	INS	ENST00000263642.2	37	c.12_13insGG	CCDS2217.1																																																																																				0.530	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2		NM_022168		22	62	NaN	NaN	NaN	NaN	NaN	22	62	---	---
HIST1H4L	8368	broad.mit.edu	37	6	27841112	27841114	+	In_Frame_Del	DEL	AAG	AAG	-	rs375181706		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:27841112_27841114delAAG	ENST00000355981.2	-	1	175_177	c.175_177delCTT	c.(175-177)cttdel	p.L59del	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	59					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						AAAACACTTTAAGAACTCCGCGT	0.552																																						uc003njz.2		NaN																	0				ovary(1)|breast(1)	2						c.(175-177)CTTdel		histone cluster 1, H4l																																				SO:0001651	inframe_deletion	8368				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27841112_27841114delAAG	X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"""Histones / Replication-dependent"""	4791	protein-coding gene	gene with protein product		602831	"""H4 histone family, member K"", ""histone 1, H4l"""	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.175_177delCTT	6.37:g.27841112_27841114delAAG	ENSP00000348258:p.Leu59del					HIST1H3I_uc003njy.2_5'Flank	p.L59del	NM_003546	NP_003537	P62805	H4_HUMAN			1	176_178	-			59					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	In_Frame_Del	DEL	ENST00000355981.2	37	c.175_177delCTT	CCDS4637.1																																																																																				0.552	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1		NM_003546		12	41	NaN	NaN	NaN	NaN	NaN	12	41	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832|rs201838505	byFrequency	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466					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)		GACTCACCTGGTTTTTTTTTCT	0.46																																						uc004cgr.3		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1396-1398)ACCfs		calmodulin regulated spectrin-associated protein																																				SO:0001589	frameshift_variant	157922					cytoplasm|microtubule		g.chr9:138715799_138715800insT	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.1397dupA	9.37:g.138715808_138715808dupT	ENSP00000374183:p.Thr466fs					CAMSAP1_uc004cgq.3_Frame_Shift_Ins_p.T356fs|CAMSAP1_uc010nbg.2_Frame_Shift_Ins_p.T188fs	p.T466fs	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1396_1397	-			466					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	ENST00000389532.4	37	c.1396_1397insA	CCDS35176.2																																																																																				0.460	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2		XM_351857		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
