#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KAZN	23254	broad.mit.edu	37	1	15428077	15428077	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:15428077C>A	ENST00000376030.2	+	11	1880	c.1586C>A	c.(1585-1587)gCc>gAc	p.A529D		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	529	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.A529D(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CACTGGGTGGCCAAGGCCTGG	0.592																																						uc001avm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1585-1587)GCC>GAC		kazrin isoform E							32.0	29.0	30.0					1																	15428077		2179	4236	6415	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15428077C>A	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1586C>A	1.37:g.15428077C>A	ENSP00000365198:p.Ala529Asp					KAZ_uc001avs.3_5'UTR	p.A529D	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			11	1867	+			529			SAM 2.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.1586C>A	CCDS152.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180735	0.78677	.	.	ENSG00000189337	ENST00000376030	T	0.19669	2.13	4.7	3.78	0.43462	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);	0.082698	0.45126	D	0.000388	T	0.37812	0.1017	M	0.71036	2.16	0.80722	D	1	D	0.61080	0.989	P	0.60415	0.874	T	0.15780	-1.0425	10	0.72032	D	0.01	-15.4945	8.6844	0.34229	0.0:0.8921:0.0:0.1079	.	529	Q674X7	KAZRN_HUMAN	D	529	ENSP00000365198:A529D	ENSP00000365198:A529D	A	+	2	0	KAZN	15300664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.515000	0.67049	0.972000	0.38314	0.467000	0.42956	GCC		PASS	0.592	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		3	4	3	4	---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23110939	23110939	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:23110939G>C	ENST00000400191.3	+	3	199	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L	EPHB2_ENST00000374627.1_Missense_Mutation_p.V55L|EPHB2_ENST00000544305.1_Missense_Mutation_p.V61L|EPHB2_ENST00000374632.3_Missense_Mutation_p.V61L|EPHB2_ENST00000374630.3_Missense_Mutation_p.V61L	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	61	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.V61L(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CACGTACCAGGTGTGCAACGT	0.567																																						uc009vqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|pancreas(1)	5						c.(181-183)GTG>CTG		ephrin receptor EphB2 isoform 1 precursor							100.0	84.0	90.0					1																	23110939		2203	4300	6503	SO:0001583	missense	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23110939G>C	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.181G>C	1.37:g.23110939G>C	ENSP00000383053:p.Val61Leu					EPHB2_uc001bge.2_Missense_Mutation_p.V61L|EPHB2_uc001bgf.2_Missense_Mutation_p.V61L|EPHB2_uc010odu.1_Missense_Mutation_p.V61L	p.V61L	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	326	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	61			Extracellular (Potential).		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.181G>C		.	.	.	.	.	.	.	.	.	.	G	27.5	4.833954	0.91036	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.19	5.19	0.71726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.49677	0.1571	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.91635	0.908;0.999;0.999;0.999	T	0.62613	-0.6817	10	0.87932	D	0	.	17.4346	0.87548	0.0:0.0:1.0:0.0	.	61;61;79;61	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	L	61;61;61;61;61;55	ENSP00000444174:V61L;ENSP00000363761:V61L;ENSP00000383053:V61L;ENSP00000363763:V61L;ENSP00000363758:V55L	ENSP00000363755:V61L	V	+	1	0	EPHB2	22983526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.578000	0.98200	2.704000	0.92352	0.484000	0.47621	GTG		PASS	0.567	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		15	34	15	34	---	---	---	---
RAB42	115273	broad.mit.edu	37	1	28920446	28920446	+	Silent	SNP	C	C	T	rs148146932	byFrequency	TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:28920446C>T	ENST00000373826.3	+	2	441	c.135C>T	c.(133-135)acC>acT	p.T45T	TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	45					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.T45T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGAGACCTCGGTTAAAA	0.602													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19282	0.0		0.0	False		,,,				2504	0.0					uc001bqu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)ACC>ACT		RAB42, member RAS oncogene family							48.0	40.0	43.0					1																	28920446		2203	4300	6503	SO:0001819	synonymous_variant	115273				small GTPase mediated signal transduction	membrane	GTP binding	g.chr1:28920446C>T	BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"""RAB, member RAS oncogene"""	28702	protein-coding gene	gene with protein product			"""RAB42, member RAS homolog family"""				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.135C>T	1.37:g.28920446C>T						RAB42_uc001bqv.2_Silent_p.T45T	p.T45T	NM_152304	NP_689517	Q8N4Z0	RAB42_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)	2	441	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	45					B2R5G2	Silent	SNP	ENST00000373826.3	37	c.135C>T	CCDS325.1																																																																																				PASS	0.602	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010371.1	NM_152304		9	21	9	21	---	---	---	---
EPB41	2035	broad.mit.edu	37	1	29385131	29385131	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:29385131C>G	ENST00000343067.4	+	13	2003	c.1876C>G	c.(1876-1878)Ccc>Gcc	p.P626A	EPB41_ENST00000373797.1_Missense_Mutation_p.P626A|EPB41_ENST00000373800.3_Intron|EPB41_ENST00000349460.4_Missense_Mutation_p.P417A|EPB41_ENST00000398863.2_Intron|EPB41_ENST00000356093.2_Intron|EPB41_ENST00000347529.3_Intron|EPB41_ENST00000373798.1_Missense_Mutation_p.P626A	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	626	Spectrin--actin-binding.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P417A(1)|p.P626A(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GGTGACAGTACCCACCTCAAA	0.403																																						uc001brm.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1876-1878)CCC>GCC		erythrocyte membrane protein band 4.1							100.0	93.0	96.0					1																	29385131		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29385131C>G	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1876C>G	1.37:g.29385131C>G	ENSP00000345259:p.Pro626Ala					EPB41_uc001brg.1_Missense_Mutation_p.P417A|EPB41_uc001brh.1_Intron|EPB41_uc001bri.1_Intron|EPB41_uc001brj.1_Intron|EPB41_uc001brk.2_Missense_Mutation_p.P626A|EPB41_uc001brl.1_Intron|EPB41_uc009vtl.1_Intron|EPB41_uc009vtm.1_Intron	p.P626A	NM_203342	NP_976217	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	12	1883	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	626			Spectrin--actin-binding.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.1876C>G	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158762	0.38119	.	.	ENSG00000159023	ENST00000343067;ENST00000398865;ENST00000349460;ENST00000373798;ENST00000373797	D;D;D;D	0.83673	-1.69;-1.71;-1.69;-1.75	5.45	4.53	0.55603	.	0.737603	0.13328	N	0.396122	T	0.72566	0.3476	L	0.36672	1.1	0.80722	D	1	B;B;P	0.36837	0.0;0.015;0.571	B;B;B	0.30855	0.004;0.013;0.121	T	0.68930	-0.5279	10	0.27785	T	0.31	.	10.9949	0.47569	0.0:0.9149:0.0:0.0851	.	626;626;417	P11171;P11171-7;P11171-3	41_HUMAN;.;.	A	626;626;417;626;626	ENSP00000345259:P626A;ENSP00000317597:P417A;ENSP00000362904:P626A;ENSP00000362903:P626A	ENSP00000345259:P626A	P	+	1	0	EPB41	29257718	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.432000	0.52824	2.542000	0.85734	0.563000	0.77884	CCC		PASS	0.403	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		3	29	3	29	---	---	---	---
MTF1	4520	broad.mit.edu	37	1	38288049	38288049	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:38288049C>T	ENST00000373036.4	-	9	1651	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	504					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.G504E(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCAGAAGCCCCAGCAACAAC	0.587																																						uc001cce.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1510-1512)GGG>GAG		metal-regulatory transcription factor 1							44.0	41.0	42.0					1																	38288049		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38288049C>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1511G>A	1.37:g.38288049C>T	ENSP00000362127:p.Gly504Glu					MTF1_uc009vvj.1_Missense_Mutation_p.G195E	p.G504E	NM_005955	NP_005946	Q14872	MTF1_HUMAN			9	1652	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	504					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.1511G>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332060	0.60853	.	.	ENSG00000188786	ENST00000373036	T	0.56611	0.45	6.17	5.26	0.73747	.	0.276073	0.41712	N	0.000829	T	0.51686	0.1689	L	0.60455	1.87	0.41724	D	0.989522	B	0.18461	0.028	B	0.15870	0.014	T	0.52298	-0.8594	10	0.72032	D	0.01	.	15.4602	0.75349	0.0:0.934:0.0:0.066	.	504	Q14872	MTF1_HUMAN	E	504	ENSP00000362127:G504E	ENSP00000362127:G504E	G	-	2	0	MTF1	38060636	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.760000	0.55235	1.616000	0.50265	0.655000	0.94253	GGG		PASS	0.587	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		6	10	6	10	---	---	---	---
ZFYVE9	9372	broad.mit.edu	37	1	52703869	52703869	+	Silent	SNP	G	G	A	rs149478229		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:52703869G>A	ENST00000371591.1	+	3	911	c.780G>A	c.(778-780)gcG>gcA	p.A260A	ZFYVE9_ENST00000357206.2_Silent_p.A260A|ZFYVE9_ENST00000287727.3_Silent_p.A260A	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	260					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.A260A(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCATGTCTGCGATTACAAGTT	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20833	0.0		0.0	False		,,,				2504	0.0					uc001cto.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(778-780)GCG>GCA		zinc finger, FYVE domain containing 9 isoform 3		G	,,	1,4405	2.1+/-5.4	0,1,2202	185.0	190.0	188.0		780,780,780	-5.5	0.0	1	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZFYVE9	NM_004799.2,NM_007323.1,NM_007324.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	260/1426,260/763,260/1367	52703869	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703869G>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.780G>A	1.37:g.52703869G>A						ZFYVE9_uc001ctn.2_Silent_p.A260A|ZFYVE9_uc001ctp.2_Silent_p.A260A	p.A260A	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	952	+			260					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.780G>A	CCDS563.1																																																																																				PASS	0.438	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		25	181	25	181	---	---	---	---
LEPROT	54741	broad.mit.edu	37	1	65897531	65897531	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:65897531A>G	ENST00000371065.4	+	4	463	c.325A>G	c.(325-327)Att>Gtt	p.I109V	LEPR_ENST00000371060.3_Intron|LEPR_ENST00000371059.3_Intron|LEPR_ENST00000349533.6_Intron|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Intron	NM_001198681.1|NM_017526.4	NP_001185610.1|NP_059996.1	O15243	OBRG_HUMAN	leptin receptor overlapping transcript	109					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.I109V(1)		kidney(1)|large_intestine(1)|lung(5)	7				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAATGCAGTCATTTTCCTTAC	0.393																																						uc001dcf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)ATT>GTT		leptin receptor gene-related protein							135.0	130.0	132.0					1																	65897531		2203	4300	6503	SO:0001583	missense	54741					endosome membrane|Golgi membrane|integral to plasma membrane		g.chr1:65897531A>G	Y12670	CCDS630.1, CCDS72801.1	1p31.2	2008-02-05			ENSG00000213625	ENSG00000213625			29477	protein-coding gene	gene with protein product	"""leptin receptor gene related protein"""	613461				9207021	Standard	NM_001198681		Approved	OBRGRP, OB-RGRP, VPS55, FLJ90360	uc001dcf.3	O15243	OTTHUMG00000009065	ENST00000371065.4:c.325A>G	1.37:g.65897531A>G	ENSP00000360104:p.Ile109Val					LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Missense_Mutation_p.I118V	p.I109V	NM_017526	NP_059996	O15243	OBRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	4	414	+			109			Helical; (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000371065.4	37	c.325A>G	CCDS630.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309368	0.40895	.	.	ENSG00000213625	ENST00000371065	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	U	0.000000	T	0.69296	0.3095	L	0.46614	1.455	0.58432	D	0.999999	P	0.47604	0.898	D	0.68192	0.956	T	0.72633	-0.4234	9	0.87932	D	0	-19.3068	16.8061	0.85666	1.0:0.0:0.0:0.0	.	109	O15243	OBRG_HUMAN	V	109	.	ENSP00000360104:I109V	I	+	1	0	LEPROT	65670119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.034000	0.76511	2.367000	0.80283	0.528000	0.53228	ATT		PASS	0.393	LEPROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025132.4	NM_017526		12	25	12	25	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66102457	66102457	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:66102457A>G	ENST00000349533.6	+	20	3442	c.3257A>G	c.(3256-3258)aAa>aGa	p.K1086R	LEPR_ENST00000406510.3_Missense_Mutation_p.K153R	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.K1086R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACCTCAATCAAAAAGAGAGAG	0.413																																						uc001dci.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3256-3258)AAA>AGA		leptin receptor isoform 1							66.0	68.0	67.0					1																	66102457		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102457A>G	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3257A>G	1.37:g.66102457A>G	ENSP00000330393:p.Lys1086Arg					LEPR_uc009waq.2_3'UTR	p.K1086R	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3459	+			1086			Cytoplasmic (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.3257A>G	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	2.785	-0.252566	0.05829	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.55413	0.52	5.73	2.07	0.26955	.	0.702099	0.14913	N	0.291134	T	0.21145	0.0509	L	0.60455	1.87	0.09310	N	1	P	0.35656	0.514	B	0.29716	0.106	T	0.06023	-1.0850	10	0.18710	T	0.47	-9.3497	7.3787	0.26843	0.678:0.1253:0.1967:0.0	.	1086	P48357	LEPR_HUMAN	R	1086;153	ENSP00000330393:K1086R	ENSP00000330393:K1086R	K	+	2	0	LEPR	65875045	0.080000	0.21391	0.426000	0.26672	0.030000	0.12068	1.607000	0.36836	0.997000	0.38969	-0.263000	0.10527	AAA		PASS	0.413	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		8	24	8	24	---	---	---	---
RPAP2	79871	broad.mit.edu	37	1	92798948	92798948	+	Splice_Site	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:92798948C>T	ENST00000610020.1	+	9	1565	c.1456C>T	c.(1456-1458)Cat>Tat	p.H486Y		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	486					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.H486Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TGTGATTCAGCATGATTCCAC	0.323																																						uc001dot.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1456-1458)CAT>TAT		RNA polymerase II associated protein 2							130.0	125.0	127.0					1																	92798948		2203	4299	6502	SO:0001630	splice_region_variant	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92798948C>T	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1456-1C>T	1.37:g.92798948C>T						RPAP2_uc009wdh.2_RNA	p.H486Y	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	9	1565	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	486					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.1456C>T	CCDS740.1	.	.	.	.	.	.	.	.	.	.	C	4.607	0.112757	0.08831	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.49	2.29	0.28610	.	1.520140	0.03214	N	0.176567	T	0.14917	0.0360	L	0.47716	1.5	0.22156	N	0.999328	B	0.28324	0.207	B	0.20767	0.031	T	0.16660	-1.0395	8	0.45353	T	0.12	0.2764	2.4671	0.04555	0.1075:0.4371:0.2008:0.2547	.	486	Q8IXW5	RPAP2_HUMAN	Y	486	.	ENSP00000359368:H486Y	H	+	1	0	RPAP2	92571536	0.283000	0.24277	0.994000	0.49952	0.258000	0.26162	0.457000	0.21875	0.596000	0.29794	0.484000	0.47621	CAT		PASS	0.323	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813	Missense_Mutation	9	13	9	13	---	---	---	---
OTUD7B	56957	broad.mit.edu	37	1	149916922	149916922	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:149916922C>G	ENST00000369135.4	-	12	1660	c.1366G>C	c.(1366-1368)Gat>Cat	p.D456H		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	456					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D456H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CGGGGCTCATCTCCAGCTGAG	0.612																																						uc001etn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1366-1368)GAT>CAT		zinc finger protein Cezanne							51.0	52.0	52.0					1																	149916922		2023	4184	6207	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916922C>G	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1366G>C	1.37:g.149916922C>G	ENSP00000358131:p.Asp456His						p.D456H	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	1722	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		456					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.1366G>C	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790143	0.70337	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.32753	1.44	4.99	4.99	0.66335	.	0.099386	0.64402	D	0.000002	T	0.37839	0.1018	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.03249	-1.1056	9	.	.	.	-28.8226	17.451	0.87592	0.0:1.0:0.0:0.0	.	456	Q6GQQ9	OTU7B_HUMAN	H	456	ENSP00000358131:D456H	.	D	-	1	0	OTUD7B	148183546	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.285000	0.78660	2.600000	0.87896	0.557000	0.71058	GAT		PASS	0.612	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		17	20	17	20	---	---	---	---
OR10X1	128367	broad.mit.edu	37	1	158548923	158548923	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:158548923G>C	ENST00000368150.1	-	1	766	c.767C>G	c.(766-768)aCc>aGc	p.T256S		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T256S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGAGGCACAGGTGGTGAAGGC	0.483																																						uc010pin.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(766-768)ACC>AGC		olfactory receptor, family 10, subfamily X,							143.0	142.0	143.0					1																	158548923		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548923G>C	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.767C>G	1.37:g.158548923G>C	ENSP00000357132:p.Thr256Ser						p.T256S	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	767	-	all_hematologic(112;0.0378)		256			Helical; Name=6; (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.767C>G	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.750994	0.69533	.	.	ENSG00000186400	ENST00000368150	T	0.40476	1.03	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000119	T	0.64249	0.2581	M	0.93854	3.465	0.38111	D	0.937571	D	0.58268	0.982	P	0.58130	0.833	T	0.76332	-0.2998	10	0.87932	D	0	.	16.7966	0.85603	0.0:0.0:1.0:0.0	.	256	Q8NGY0	O10X1_HUMAN	S	256	ENSP00000357132:T256S	ENSP00000357132:T256S	T	-	2	0	OR10X1	156815547	1.000000	0.71417	0.950000	0.38849	0.532000	0.34746	5.797000	0.69087	2.473000	0.83533	0.563000	0.77884	ACC		PASS	0.483	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		25	100	25	100	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158735980	158735980	+	Missense_Mutation	SNP	G	G	A	rs376516662	byFrequency	TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:158735980G>A	ENST00000335094.2	-	1	512	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AATGGGAGGCGTGAAATCAAG	0.502													G|||	2	0.000399361	0.0	0.0	5008	,	,		18610	0.0		0.0	False		,,,				2504	0.002					uc010piq.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(493-495)CGC>TGC		olfactory receptor, family 6, subfamily N,		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	73.0	72.0		493	3.8	0.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6N1	NM_001005185.1	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	165/313	158735980	2,13004	2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735980G>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.493C>T	1.37:g.158735980G>A	ENSP00000335535:p.Arg165Cys						p.R165C	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	493	-	all_hematologic(112;0.0378)		165			Extracellular (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.493C>T	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679686	0.29783	2.27E-4	1.16E-4	ENSG00000197403	ENST00000335094	T	0.00188	8.59	4.78	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.147838	0.31784	N	0.007076	T	0.00109	0.0003	L	0.41961	1.31	0.09310	N	1	D	0.63046	0.992	P	0.56648	0.803	T	0.22277	-1.0221	10	0.62326	D	0.03	-5.8576	6.1984	0.20563	0.0919:0.0:0.6264:0.2817	.	165	Q8NGY5	OR6N1_HUMAN	C	165	ENSP00000335535:R165C	ENSP00000335535:R165C	R	-	1	0	OR6N1	157002604	0.006000	0.16342	0.009000	0.14445	0.316000	0.28119	0.632000	0.24583	2.454000	0.82982	0.655000	0.94253	CGC		PASS	0.502	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		23	67	23	67	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178063816	178063816	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:178063816G>T	ENST00000367649.3	+	1	541	c.189G>T	c.(187-189)tgG>tgT	p.W63C	RASAL2-AS1_ENST00000421505.1_lincRNA|RASAL2_ENST00000448150.3_Missense_Mutation_p.W45C			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.W45C(1)|p.W63C(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AACAGAGCTGGGTCCGGGTGT	0.582																																						uc001glq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|large_intestine(1)	5						c.(187-189)TGG>TGT		RAS protein activator like 2 isoform 2							46.0	38.0	41.0					1																	178063816		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178063816G>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.189G>T	1.37:g.178063816G>T	ENSP00000356621:p.Trp63Cys					RASAL2_uc009wxb.2_Missense_Mutation_p.W63C|LOC100302401_uc001gln.1_5'Flank|LOC100302401_uc001glo.1_5'Flank|RASAL2_uc009wxa.2_RNA	p.W63C	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN			1	953	+			Error:Variant_position_missing_in_Q9UJF2_after_alignment					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000367649.3	37	c.189G>T	CCDS1321.2	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934348	0.52866	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.26957	1.77;1.7	4.53	4.53	0.55603	.	0.000000	0.51477	D	0.000092	T	0.32010	0.0815	L	0.40543	1.245	0.80722	D	1	P	0.48640	0.913	P	0.50490	0.642	T	0.08932	-1.0698	10	0.87932	D	0	.	14.5484	0.68050	0.0:0.0:1.0:0.0	.	63	F8W755	.	C	45;63	ENSP00000407768:W45C;ENSP00000356621:W63C	ENSP00000356621:W63C	W	+	3	0	RASAL2	176330439	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.339000	0.65953	2.224000	0.72417	0.491000	0.48974	TGG		PASS	0.582	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1	NM_170692		15	23	15	23	---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185277948	185277948	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:185277948A>G	ENST00000367498.3	-	5	963	c.341T>C	c.(340-342)aTg>aCg	p.M114T	IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.M114T|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	114					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.M114T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TACTCGATCCATCTTCAGCTT	0.303																																						uc001grl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(340-342)ATG>ACG		influenza virus NS1A binding protein							170.0	165.0	167.0					1																	185277948		2203	4299	6502	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185277948A>G	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.341T>C	1.37:g.185277948A>G	ENSP00000356468:p.Met114Thr					IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA	p.M114T	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			5	964	-			114					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.341T>C	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936329	0.73442	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.68479	-0.33;-0.33	5.88	5.88	0.94601	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.072012	0.85682	D	0.000000	T	0.74619	0.3740	M	0.87097	2.86	0.80722	D	1	P	0.38677	0.642	B	0.39971	0.315	T	0.79538	-0.1762	10	0.87932	D	0	.	16.2898	0.82742	1.0:0.0:0.0:0.0	.	114	Q9Y6Y0	NS1BP_HUMAN	T	114	ENSP00000356468:M114T;ENSP00000356467:M114T	ENSP00000356467:M114T	M	-	2	0	IVNS1ABP	183544571	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.210000	0.95106	2.250000	0.74265	0.482000	0.46254	ATG		PASS	0.303	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		25	39	25	39	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196684863	196684863	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:196684863G>A	ENST00000367429.4	+	11	1900	c.1660G>A	c.(1660-1662)Ggt>Agt	p.G554S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	554	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.G554S(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CATAGTGTGTGGTTACAATGG	0.338																																						uc001gtj.3																			2	Substitution - Missense(2)		lung(1)|kidney(1)	skin(4)|ovary(1)|breast(1)	6						c.(1660-1662)GGT>AGT		complement factor H isoform a precursor							241.0	227.0	232.0					1																	196684863		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196684863G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1660G>A	1.37:g.196684863G>A	ENSP00000356399:p.Gly554Ser						p.G554S	NM_000186	NP_000177	P08603	CFAH_HUMAN			11	1900	+			554			Sushi 9.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1660G>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722318	0.30503	.	.	ENSG00000000971	ENST00000367429	T	0.63417	-0.04	5.42	-0.654	0.11443	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.42944	0.1225	L	0.52266	1.64	0.09310	N	1	P	0.34684	0.463	B	0.28232	0.087	T	0.21348	-1.0248	9	0.16896	T	0.51	.	1.5214	0.02516	0.2023:0.2909:0.3578:0.149	.	554	P08603	CFAH_HUMAN	S	554	ENSP00000356399:G554S	ENSP00000356399:G554S	G	+	1	0	CFH	194951486	0.142000	0.22610	0.000000	0.03702	0.002000	0.02628	0.369000	0.20416	-0.080000	0.12685	0.655000	0.94253	GGT		PASS	0.338	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		8	61	8	61	---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196965332	196965332	+	Splice_Site	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:196965332G>C	ENST00000256785.4	+	6	1079		c.e6+1		CFHR5_ENST00000367414.5_Splice_Site			Q9BXR6	FHR5_HUMAN	complement factor H-related 5						complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.?(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGTGTGTTGGTGAGAAAACA	0.299																																						uc001gts.3																			1	Unknown(1)		lung(1)	breast(1)|skin(1)	2						c.e6+1		complement factor H-related 5 precursor							102.0	106.0	105.0					1																	196965332		2203	4300	6503	SO:0001630	splice_region_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196965332G>C	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.970+1G>C	1.37:g.196965332G>C							p.A324_splice	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			6	1098	+								Q2NKK2	Splice_Site	SNP	ENST00000256785.4	37	c.970_splice	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	.	11.05	1.523700	0.27299	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0433	0.42171	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CFHR5	195231955	1.000000	0.71417	0.455000	0.27031	0.087000	0.18053	3.739000	0.55075	1.455000	0.47813	0.442000	0.29010	.		PASS	0.299	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787	Intron	5	31	5	31	---	---	---	---
ELK4	2005	broad.mit.edu	37	1	205589867	205589867	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:205589867C>A	ENST00000357992.4	-	3	646	c.307G>T	c.(307-309)Ggt>Tgt	p.G103C	ELK4_ENST00000289703.4_Missense_Mutation_p.G103C|ELK4_ENST00000468523.1_5'UTR	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	103					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.G103C(2)	SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCACAGTCACCCTCAATCCTG	0.428			T	SLC45A3	prostate																																	uc001hcy.1				Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate		2	Substitution - Missense(2)		lung(2)		0						c.(307-309)GGT>TGT		ELK4 protein isoform a							110.0	95.0	100.0					1																	205589867		2203	4300	6503	SO:0001583	missense	2005					cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr1:205589867C>A	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.307G>T	1.37:g.205589867C>A	ENSP00000350681:p.Gly103Cys					ELK4_uc001hcz.2_Missense_Mutation_p.G103C	p.G103C	NM_001973	NP_001964	P28324	ELK4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1557	-	Breast(84;0.07)		103					P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.307G>T	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222940	0.39300	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.55234	0.53;0.53	5.56	4.62	0.57501	.	0.153716	0.64402	D	0.000018	T	0.58694	0.2140	M	0.66939	2.045	0.58432	D	0.999997	B;D	0.64830	0.274;0.994	B;P	0.53722	0.122;0.733	T	0.61058	-0.7139	10	0.56958	D	0.05	.	7.0629	0.25135	0.1684:0.7392:0.0:0.0924	.	103;103	P28324-2;P28324	.;ELK4_HUMAN	C	193;103;103	ENSP00000350681:G103C;ENSP00000289703:G103C	ENSP00000289703:G103C	G	-	1	0	ELK4	203856490	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	2.895000	0.48648	1.275000	0.44379	0.650000	0.86243	GGT		PASS	0.428	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		16	40	16	40	---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227381487	227381487	+	Splice_Site	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:227381487C>A	ENST00000366769.3	-	5	1890	c.599G>T	c.(598-600)aGa>aTa	p.R200I	CDC42BPA_ENST00000366765.3_Splice_Site_p.R200I|CDC42BPA_ENST00000366766.2_Splice_Site_p.R200I|CDC42BPA_ENST00000334218.5_Splice_Site_p.R200I|CDC42BPA_ENST00000535525.1_Splice_Site_p.R200I|CDC42BPA_ENST00000366767.3_Splice_Site_p.R200I|CDC42BPA_ENST00000366764.2_Splice_Site_p.R200I	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.R200I(3)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ACTGTTTTACCTGTGTACATA	0.378																																						uc001hqr.2																			3	Substitution - Missense(3)		lung(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(598-600)AGA>ATA		CDC42-binding protein kinase alpha isoform B							107.0	99.0	101.0					1																	227381487		2203	4300	6503	SO:0001630	splice_region_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227381487C>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.599+1G>T	1.37:g.227381487C>A						CDC42BPA_uc001hqs.2_Missense_Mutation_p.R200I|CDC42BPA_uc009xes.2_Missense_Mutation_p.R200I|CDC42BPA_uc010pvs.1_Missense_Mutation_p.R200I	p.R200I	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			5	1542	-		all_cancers(173;0.156)|Prostate(94;0.0792)	200			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.599G>T	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961401	0.92791	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.98866	4.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92443	0.5963	10	0.87932	D	0	.	18.0095	0.89219	0.0:1.0:0.0:0.0	.	200;200;200;200	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	I	200	ENSP00000355731:R200I;ENSP00000355729:R200I;ENSP00000335341:R200I;ENSP00000355728:R200I;ENSP00000355726:R200I;ENSP00000443275:R200I;ENSP00000355727:R200I	ENSP00000335341:R200I	R	-	2	0	CDC42BPA	225448110	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.757000	0.85209	2.251000	0.74343	0.563000	0.77884	AGA		PASS	0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	Missense_Mutation	17	33	17	33	---	---	---	---
TOMM20	9804	broad.mit.edu	37	1	235291986	235291986	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:235291986G>A	ENST00000366607.4	-	1	265	c.45C>T	c.(43-45)gcC>gcT	p.A15A	RBM34_ENST00000495224.1_5'Flank|SNORA14B_ENST00000384452.1_RNA	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	15					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)	p.A15A(1)		lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			CAATGAAAAGGGCCCCGCATA	0.607																																						uc001hwl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(43-45)GCC>GCT		translocase of outer mitochondrial membrane 20							122.0	121.0	121.0					1																	235291986		2203	4300	6503	SO:0001819	synonymous_variant	9804				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding	g.chr1:235291986G>A		CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type II"""	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.45C>T	1.37:g.235291986G>A						SNORA14B_uc001hwm.1_5'Flank	p.A15A	NM_014765	NP_055580	Q15388	TOM20_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)		1	271	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	15			Helical; (Potential).		A8K195|Q498B3|Q6IBT4	Silent	SNP	ENST00000366607.4	37	c.45C>T	CCDS1603.1																																																																																				PASS	0.607	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095551.1	NM_014765		35	76	35	76	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242035336	242035336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:242035336G>T	ENST00000366548.3	+	12	1863	c.1270G>T	c.(1270-1272)Gag>Tag	p.E424*	EXO1_ENST00000348581.5_Nonsense_Mutation_p.E424*|EXO1_ENST00000518483.1_Nonsense_Mutation_p.E424*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	424	Interaction with MLH1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.E424*(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TTATTTAGCAGAGCTGTCAGA	0.333								Editing and processing nucleases																														uc001hzh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(1270-1272)GAG>TAG	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							30.0	30.0	30.0					1																	242035336		2203	4299	6502	SO:0001587	stop_gained	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242035336G>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1270G>T	1.37:g.242035336G>T	ENSP00000355506:p.Glu424*					EXO1_uc001hzi.2_Nonsense_Mutation_p.E424*|EXO1_uc001hzj.2_Nonsense_Mutation_p.E424*|EXO1_uc009xgq.2_Splice_Site_p.E423_splice	p.E424*	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		12	1810	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	424			Interaction with MLH1.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Nonsense_Mutation	SNP	ENST00000366548.3	37	c.1270G>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	40	8.278329	0.98740	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	.	.	.	5.83	5.83	0.93111	.	0.451330	0.25660	N	0.029145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-3.498	12.992	0.58625	0.0741:0.0:0.9259:0.0	.	.	.	.	X	424	.	ENSP00000311873:E424X	E	+	1	0	EXO1	240101959	1.000000	0.71417	0.986000	0.45419	0.752000	0.42762	6.040000	0.70980	2.775000	0.95449	0.650000	0.86243	GAG		PASS	0.333	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		13	21	13	21	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875736	247875736	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr1:247875736C>A	ENST00000302084.2	-	1	369	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G108C(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCTGTGCAGCCTAATGAGAAA	0.498																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)GGC>TGC		olfactory receptor, family 6, subfamily F,							99.0	96.0	97.0					1																	247875736		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875736C>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.322G>T	1.37:g.247875736C>A	ENSP00000305640:p.Gly108Cys						p.G108C	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	322	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		108			Helical; Name=3; (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.322G>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784940	0.31593	.	.	ENSG00000169214	ENST00000302084	T	0.01369	4.97	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000445	T	0.09069	0.0224	M	0.88105	2.93	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.01988	-1.1234	10	0.87932	D	0	-37.4282	9.8676	0.41154	0.0:0.8975:0.0:0.1025	.	108	Q8NGZ6	OR6F1_HUMAN	C	108	ENSP00000305640:G108C	ENSP00000305640:G108C	G	-	1	0	OR6F1	245942359	0.000000	0.05858	0.822000	0.32727	0.130000	0.20726	0.172000	0.16704	2.209000	0.71365	0.591000	0.81541	GGC		PASS	0.498	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		13	65	13	65	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1842979	1842979	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:1842979G>T	ENST00000399161.2	-	21	3769	c.3022C>A	c.(3022-3024)Ccc>Acc	p.P1008T	MYT1L_ENST00000407844.1_Missense_Mutation_p.P4T|MYT1L_ENST00000428368.2_Missense_Mutation_p.P1006T|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1008					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P1008T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCTGGCGTGGGGCAGGACATG	0.672																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(3022-3024)CCC>ACC		myelin transcription factor 1-like							30.0	37.0	35.0					2																	1842979		2046	4192	6238	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1842979G>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3022C>A	2.37:g.1842979G>T	ENSP00000382114:p.Pro1008Thr					MYT1L_uc002qxd.2_Missense_Mutation_p.P1006T|MYT1L_uc010ewk.2_Missense_Mutation_p.P4T	p.P1008T	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	21	3849	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1008			C2HC-type 6.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3022C>A		.	.	.	.	.	.	.	.	.	.	G	32	5.115890	0.94339	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T	0.57107	0.42;0.42	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.78368	-0.2231	10	0.72032	D	0.01	-29.1582	19.5365	0.95255	0.0:0.0:1.0:0.0	.	4;1008;1006	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	T	1008;954;4;62;1006	ENSP00000382114:P1008T;ENSP00000396103:P1006T	ENSP00000295067:P954T	P	-	1	0	MYT1L	1821986	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.780000	0.99024	2.618000	0.88619	0.563000	0.77884	CCC		PASS	0.672	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		7	13	7	13	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8871217	8871217	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:8871217T>C	ENST00000256707.3	-	30	5130	c.4949A>G	c.(4948-4950)aAg>aGg	p.K1650R	KIDINS220_ENST00000427284.1_Missense_Mutation_p.K1631R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.K1551R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.K1631R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1650					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.K1650R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGGGCTTTTCTTGTCTTCTGA	0.522																																						uc002qzc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(4948-4950)AAG>AGG		kinase D-interacting substrate of 220 kDa							86.0	79.0	81.0					2																	8871217		1932	4132	6064	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871217T>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4949A>G	2.37:g.8871217T>C	ENSP00000256707:p.Lys1650Arg					KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.K1551R|KIDINS220_uc002qzb.2_Missense_Mutation_p.K504R	p.K1650R	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			30	5131	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1650			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.4949A>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365120	0.82463	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.68181	-0.3;-0.29;-0.31;-0.29	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	L	0.27053	0.805	0.33387	D	0.575642	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.996;0.991;0.997	T	0.81380	-0.0959	10	0.87932	D	0	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1551;1650;504	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	R	1650;1631;1551;1631	ENSP00000256707:K1650R;ENSP00000411849:K1631R;ENSP00000414923:K1551R;ENSP00000418974:K1631R	ENSP00000256707:K1650R	K	-	2	0	KIDINS220	8788668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.216000	0.58540	2.308000	0.77769	0.533000	0.62120	AAG		PASS	0.522	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		16	39	16	39	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25965124	25965124	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:25965124G>A	ENST00000435504.4	-	13	4375	c.4082C>T	c.(4081-4083)tCa>tTa	p.S1361L	ASXL2_ENST00000336112.4_Missense_Mutation_p.S1333L|ASXL2_ENST00000404843.1_Missense_Mutation_p.S844L|ASXL2_ENST00000272341.4_Missense_Mutation_p.S844L			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1361					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.S844L(1)|p.S1361L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAGTCACTGAAAATGACAT	0.493																																						uc002rgs.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(4081-4083)TCA>TTA		additional sex combs like 2							83.0	79.0	81.0					2																	25965124		2081	4210	6291	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25965124G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.4082C>T	2.37:g.25965124G>A	ENSP00000391447:p.Ser1361Leu					ASXL2_uc002rgt.1_Missense_Mutation_p.S844L	p.S1361L	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			12	4303	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1361					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.4082C>T		.	.	.	.	.	.	.	.	.	.	G	24.3	4.518014	0.85495	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.29655	1.6;1.6;1.56;1.56	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	M	0.72894	2.215	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.56111	-0.8033	10	0.62326	D	0.03	-15.7438	19.1206	0.93362	0.0:0.0:1.0:0.0	.	844;1361	Q76L83-2;Q76L83	.;ASXL2_HUMAN	L	1361;1333;844;844	ENSP00000391447:S1361L;ENSP00000337250:S1333L;ENSP00000383920:S844L;ENSP00000272341:S844L	ENSP00000272341:S844L	S	-	2	0	ASXL2	25818628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.861000	0.98227	0.655000	0.94253	TCA		PASS	0.493	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		22	44	22	44	---	---	---	---
ZNF513	130557	broad.mit.edu	37	2	27603054	27603054	+	Silent	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:27603054T>C	ENST00000323703.6	-	2	315	c.117A>G	c.(115-117)ctA>ctG	p.L39L	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	39					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.L39L(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCCTAGTAGCAAATCAC	0.572																																						uc002rkk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(115-117)CTA>CTG		zinc finger protein 513							105.0	110.0	108.0					2																	27603054		2203	4300	6503	SO:0001819	synonymous_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27603054T>C	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.117A>G	2.37:g.27603054T>C						ZNF513_uc002rkj.2_5'UTR	p.L39L	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			2	317	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		39					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	c.117A>G	CCDS1751.1																																																																																				PASS	0.572	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		49	103	49	103	---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44104801	44104801	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:44104801C>A	ENST00000272286.2	+	12	1948	c.1858C>A	c.(1858-1860)Ctc>Atc	p.L620I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	620	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.L620I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCTCGGGAACCTCACCATCGC	0.517											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rtq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1858-1860)CTC>ATC		ATP-binding cassette sub-family G member 8							101.0	104.0	103.0					2																	44104801		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44104801C>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1858C>A	2.37:g.44104801C>A	ENSP00000272286:p.Leu620Ile		OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	ABCG8_uc010yoa.1_Missense_Mutation_p.L619I	p.L620I	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			12	1948	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	620			ABC transmembrane type-2.|Extracellular (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1858C>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	3.349	-0.133051	0.06711	.	.	ENSG00000143921	ENST00000272286	T	0.17213	2.29	5.22	-10.4	0.00318	.	1.623720	0.03203	N	0.175017	T	0.05640	0.0148	N	0.11201	0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31052	-0.9957	10	0.19590	T	0.45	.	0.0887	0.00038	0.2746:0.191:0.2355:0.2989	.	619;620	Q9H221-2;Q9H221	.;ABCG8_HUMAN	I	620	ENSP00000272286:L620I	ENSP00000272286:L620I	L	+	1	0	ABCG8	43958305	0.000000	0.05858	0.022000	0.16811	0.003000	0.03518	-3.776000	0.00369	-3.182000	0.00222	-1.076000	0.02234	CTC		PASS	0.517	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		18	44	18	44	---	---	---	---
TET3	200424	broad.mit.edu	37	2	74300734	74300734	+	Silent	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:74300734G>T	ENST00000409262.3	+	2	2148	c.2148G>T	c.(2146-2148)acG>acT	p.T716T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	716					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.T716T(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGGCCCCACGGTCGCCTCTA	0.438																																						uc002skb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2146-2148)ACG>ACT		tet oncogene family member 3							43.0	47.0	46.0					2																	74300734		1852	4099	5951	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74300734G>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2148G>T	2.37:g.74300734G>T						TET3_uc010fez.1_Silent_p.T716T	p.T716T	NM_144993	NP_659430	O43151	TET3_HUMAN			2	2148	+			716					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.2148G>T	CCDS46339.1																																																																																				PASS	0.438	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			5	10	5	10	---	---	---	---
DNAH6	1768	broad.mit.edu	37	2	84785056	84785056	+	Silent	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:84785056A>T	ENST00000237449.6	+	10	1808	c.1800A>T	c.(1798-1800)atA>atT	p.I600I	DNAH6_ENST00000398278.2_Silent_p.I600I|DNAH6_ENST00000389394.3_Silent_p.I600I			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	600	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I179I(1)|p.I600I(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTTCTCAAATAAAGGTATGTT	0.259																																						uc010fgb.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1798-1800)ATA>ATT		dynein, axonemal, heavy polypeptide 6							40.0	40.0	40.0					2																	84785056		2203	4300	6503	SO:0001819	synonymous_variant	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84785056A>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1800A>T	2.37:g.84785056A>T						DNAH6_uc002soo.2_Silent_p.I179I|DNAH6_uc002sop.2_Silent_p.I179I	p.I600I	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			11	1937	+			600			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	c.1800A>T	CCDS46348.1																																																																																				PASS	0.259	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		11	27	11	27	---	---	---	---
IGKV1-9	28941	broad.mit.edu	37	2	89309696	89309696	+	RNA	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:89309696C>G	ENST00000493819.1	-	0	191									immunoglobulin kappa variable 1-9																		ACTGGCCCGGCAAGTGATGGT	0.488																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							142.0	134.0	136.0					2																	89309696		1897	4093	5990			0							g.chr2:89309696C>G	Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309696C>G						uc002stl.2_Intron								74		-									RNA	SNP	ENST00000493819.1	37	c.6651G>C																																																																																					PASS	0.488	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834		60	145	60	145	---	---	---	---
IGKV2-24	28923	broad.mit.edu	37	2	89475975	89475975	+	RNA	SNP	C	C	A	rs372579416		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:89475975C>A	ENST00000484817.1	-	0	226									immunoglobulin kappa variable 2-24																		TGGAGGCTGGCCTGGCCTCTG	0.527																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							109.0	109.0	109.0					2																	89475975		1838	4079	5917			0							g.chr2:89475975C>A	X12684		2p11.2	2012-02-08			ENSG00000241294	ENSG00000241294		"""Immunoglobulins / IGK locus"""	5781	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151655		2.37:g.89475975C>A						uc002stl.2_Intron								28		-									RNA	SNP	ENST00000484817.1	37	c.3506G>T																																																																																					PASS	0.527	IGKV2-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323404.1	NG_000834		38	84	38	84	---	---	---	---
INPP4A	3631	broad.mit.edu	37	2	99181196	99181196	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:99181196G>T	ENST00000523221.1	+	18	2137	c.2137G>T	c.(2137-2139)Gcc>Tcc	p.A713S	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.A674S|INPP4A_ENST00000409851.3_Missense_Mutation_p.A708S|INPP4A_ENST00000409016.4_Missense_Mutation_p.A674S|INPP4A_ENST00000545415.1_Missense_Mutation_p.A674S|INPP4A_ENST00000074304.5_Missense_Mutation_p.A713S			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	713					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.A713S(3)|p.A674S(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CGGGCTGCTGGCCCAGTTCGA	0.622																																						uc002syy.2																			4	Substitution - Missense(4)		lung(3)|prostate(1)	kidney(1)	1						c.(2137-2139)GCC>TCC		inositol polyphosphate-4-phosphatase, type 1							21.0	23.0	22.0					2																	99181196		2003	4149	6152	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99181196G>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2137G>T	2.37:g.99181196G>T	ENSP00000427722:p.Ala713Ser					INPP4A_uc010yvj.1_Missense_Mutation_p.A674S|INPP4A_uc010yvk.1_Missense_Mutation_p.A674S|INPP4A_uc002syx.2_Missense_Mutation_p.A708S|INPP4A_uc010fik.2_Intron	p.A713S	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			20	2530	+			713					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.2137G>T	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	36	5.738121	0.96865	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	4.94	4.94	0.65067	.	0.053386	0.64402	D	0.000001	T	0.44891	0.1315	L	0.50333	1.59	0.80722	D	1	D;P;P;D	0.56287	0.961;0.947;0.956;0.975	P;P;P;P	0.55391	0.616;0.566;0.648;0.775	T	0.37267	-0.9713	10	0.59425	D	0.04	-22.9536	17.3305	0.87262	0.0:0.0:1.0:0.0	.	674;674;713;708	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	S	674;708;713;674;674;713	ENSP00000386704:A674S;ENSP00000386777:A708S;ENSP00000074304:A713S;ENSP00000442149:A674S;ENSP00000387294:A674S;ENSP00000427722:A713S	ENSP00000074304:A713S	A	+	1	0	INPP4A	98547628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.577000	0.86979	0.563000	0.77884	GCC		PASS	0.622	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		4	4	4	4	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125521621	125521621	+	Silent	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:125521621G>T	ENST00000431078.1	+	16	2791	c.2427G>T	c.(2425-2427)gcG>gcT	p.A809A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	809	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.A809A(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTTCCATGCGGAATTCAGTG	0.398																																						uc002tno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(2425-2427)GCG>GCT		contactin associated protein-like 5 precursor							139.0	130.0	133.0					2																	125521621		1829	4091	5920	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521621G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2427G>T	2.37:g.125521621G>T						CNTNAP5_uc010flu.2_Silent_p.A810A	p.A809A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2791	+			809			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2427G>T	CCDS46401.1																																																																																				PASS	0.398	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			21	45	21	45	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149247363	149247363	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:149247363G>T	ENST00000407073.1	+	12	4460	c.3463G>T	c.(3463-3465)Gat>Tat	p.D1155Y	MBD5_ENST00000404807.1_Missense_Mutation_p.D1388Y	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1155					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.D1155Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGTTGATCATGATGGTAGGCT	0.488																																						uc002twm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(3463-3465)GAT>TAT		methyl-CpG binding domain protein 5							78.0	81.0	80.0					2																	149247363		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247363G>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3463G>T	2.37:g.149247363G>T	ENSP00000386049:p.Asp1155Tyr					MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.D1155Y|MBD5_uc002two.2_Missense_Mutation_p.D413Y|MBD5_uc002twp.2_Missense_Mutation_p.D205Y	p.D1155Y	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4451	+			1155					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.3463G>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554011	0.27739	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.46819	0.86;0.87	6.08	6.08	0.98989	.	0.178317	0.39475	N	0.001348	T	0.41282	0.1152	N	0.08118	0	0.38524	D	0.948796	P;P	0.47191	0.471;0.891	B;P	0.47528	0.421;0.549	T	0.51639	-0.8680	10	0.87932	D	0	-2.2245	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1388;1155	E9PHH0;Q9P267	.;MBD5_HUMAN	Y	1155;1388	ENSP00000386049:D1155Y;ENSP00000384672:D1388Y	ENSP00000384672:D1388Y	D	+	1	0	MBD5	148963833	1.000000	0.71417	0.143000	0.22291	0.805000	0.45488	8.250000	0.89835	2.894000	0.99253	0.655000	0.94253	GAT		PASS	0.488	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			15	41	15	41	---	---	---	---
STAM2	10254	broad.mit.edu	37	2	152977290	152977290	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:152977290G>T	ENST00000263904.4	-	14	1725	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	459					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P459H(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CATATAAGTAGGATTGGAAAC	0.358																																						uc002tyc.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1375-1377)CCT>CAT		signal transducing adaptor molecule 2							138.0	128.0	131.0					2																	152977290		2203	4300	6503	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:152977290G>T	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.1376C>A	2.37:g.152977290G>T	ENSP00000263904:p.Pro459His						p.P459H	NM_005843	NP_005834	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	14	1726	-			459					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.1376C>A	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768048	0.69878	.	.	ENSG00000115145	ENST00000263904	T	0.20200	2.09	5.97	5.97	0.96955	.	0.509712	0.23148	N	0.051399	T	0.17238	0.0414	N	0.24115	0.695	0.32084	N	0.592829	B	0.17465	0.022	B	0.18561	0.022	T	0.06023	-1.0850	10	0.40728	T	0.16	-8.7804	15.8933	0.79318	0.0:0.0:0.8641:0.1359	.	459	O75886	STAM2_HUMAN	H	459	ENSP00000263904:P459H	ENSP00000263904:P459H	P	-	2	0	STAM2	152685536	1.000000	0.71417	0.155000	0.22561	0.975000	0.68041	5.050000	0.64251	2.836000	0.97738	0.655000	0.94253	CCT		PASS	0.358	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		5	57	5	57	---	---	---	---
NR4A2	4929	broad.mit.edu	37	2	157182348	157182348	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:157182348C>A	ENST00000339562.4	-	8	2067	c.1705G>T	c.(1705-1707)Ggg>Tgg	p.G569W	NR4A2_ENST00000429376.1_Missense_Mutation_p.G471V|NR4A2_ENST00000409108.2_Missense_Mutation_p.G534V|NR4A2_ENST00000539077.1_Missense_Mutation_p.G580W|NR4A2_ENST00000409572.1_Missense_Mutation_p.G569W|NR4A2_ENST00000426264.1_Missense_Mutation_p.G506W	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	569					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G569W(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CGCTGTAGCCCCTGTGTGCAA	0.478																																						uc002tyz.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1705-1707)GGG>TGG		nuclear receptor subfamily 4, group A, member 2							113.0	115.0	114.0					2																	157182348		2203	4300	6503	SO:0001583	missense	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182348C>A	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1705G>T	2.37:g.157182348C>A	ENSP00000344479:p.Gly569Trp					NR4A2_uc002tyx.3_Missense_Mutation_p.G506W|NR4A2_uc010zcf.1_Missense_Mutation_p.G569W	p.G569W	NM_006186	NP_006177	P43354	NR4A2_HUMAN			8	2127	-			569					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1705G>T	CCDS2201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.94|10.94	1.493488|1.493488	0.26774|0.26774	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000409108;ENST00000429376|ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	D;D|T;T;T;T	0.93019|0.53640	-3.15;-3.1|0.61;0.61;0.61;0.61	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.093347|0.093347	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.75539|0.75539	0.3863|0.3863	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.77869|0.77869	-0.2427|-0.2427	8|10	0.87932|0.87932	D|D	0|0	.|.	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|569	.|P43354	.|NR4A2_HUMAN	V|W	534;471|569;506;569;580	ENSP00000386993:G534V;ENSP00000410952:G471V|ENSP00000344479:G569W;ENSP00000389986:G506W;ENSP00000386747:G569W;ENSP00000444925:G580W	ENSP00000386993:G534V|ENSP00000344479:G569W	G|G	-|-	2|1	0|0	NR4A2|NR4A2	156890594|156890594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GGG|GGG		PASS	0.478	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			17	48	17	48	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166897952	166897952	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:166897952G>A	ENST00000303395.4	-	13	2203	c.2204C>T	c.(2203-2205)cCa>cTa	p.P735L	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P707L|SCN1A_ENST00000423058.2_Missense_Mutation_p.P735L|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.P724L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	735					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.P735L(1)|p.P724L(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAACAGGGTGGGCATTTCTG	0.348																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(2170-2172)CCA>CTA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						78.0	87.0	84.0					2																	166897952		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166897952G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2204C>T	2.37:g.166897952G>A	ENSP00000303540:p.Pro735Leu					SCN1A_uc002udo.3_Missense_Mutation_p.P604L|SCN1A_uc010fpk.2_Missense_Mutation_p.P576L	p.P724L	NM_006920	NP_008851	P35498	SCN1A_HUMAN			13	2189	-			735					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2171C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435910	0.62955	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96300	-3.97;-3.97;-3.92;-3.89	5.54	3.7	0.42460	.	0.091378	0.48286	D	0.000181	D	0.94948	0.8366	M	0.75447	2.3	0.80722	D	1	P;P;B	0.38195	0.527;0.622;0.201	B;B;B	0.36289	0.221;0.169;0.082	D	0.92603	0.6093	10	0.28530	T	0.3	.	14.9722	0.71243	0.0:0.0:0.739:0.261	.	724;707;735	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	L	735;735;724;707	ENSP00000407030:P735L;ENSP00000303540:P735L;ENSP00000364554:P724L;ENSP00000386312:P707L	ENSP00000303540:P735L	P	-	2	0	SCN1A	166606198	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.638000	0.83328	0.776000	0.33473	-0.293000	0.09583	CCA		PASS	0.348	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		17	47	17	47	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	167760268	167760268	+	Silent	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:167760268G>T	ENST00000409728.1	+	2	365	c.276G>T	c.(274-276)cgG>cgT	p.R92R	XIRP2_ENST00000409756.2_Silent_p.R92R|XIRP2_ENST00000409195.1_Silent_p.R92R|XIRP2_ENST00000295237.9_Silent_p.R92R|XIRP2_ENST00000409043.1_Silent_p.R92R|XIRP2_ENST00000420519.1_Silent_p.R92R	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R92R(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATATGGTCGGCCAGAAGTGC	0.522																																						uc002udx.2																			2	Substitution - coding silent(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(274-276)CGG>CGT		xin actin-binding repeat containing 2 isoform 1							98.0	100.0	99.0					2																	167760268		2009	4155	6164	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760268G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.276G>T	2.37:g.167760268G>T						XIRP2_uc010fpn.2_Silent_p.R92R|XIRP2_uc010fpo.2_Silent_p.R92R|XIRP2_uc010fpp.2_Silent_p.R92R	p.R92R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			1	294	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	c.276G>T	CCDS56143.1																																																																																				PASS	0.522	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		20	28	20	28	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168103133	168103133	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:168103133A>T	ENST00000409195.1	+	9	5320	c.5231A>T	c.(5230-5232)cAg>cTg	p.Q1744L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q1744L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q1522L|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1569					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Q1744L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAATGTTCAGTTTTTCACA	0.378																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(5230-5232)CAG>CTG		xin actin-binding repeat containing 2 isoform 1							79.0	74.0	76.0					2																	168103133		1847	4085	5932	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103133A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5231A>T	2.37:g.168103133A>T	ENSP00000386840:p.Gln1744Leu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q1569L|XIRP2_uc010fpq.2_Missense_Mutation_p.Q1522L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.Q1744L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5249	+			1569					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5231A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661165	0.47572	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02974	4.09;4.09;4.09	5.57	4.42	0.53409	.	0.190501	0.50627	D	0.000112	T	0.06962	0.0177	M	0.72118	2.19	0.35974	D	0.835522	P;P;P	0.46142	0.799;0.873;0.873	B;P;P	0.46659	0.323;0.523;0.523	T	0.15009	-1.0452	10	0.59425	D	0.04	-1.6617	10.3361	0.43850	0.9215:0.0:0.0785:0.0	.	1569;1569;1522	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	1744;1744;1522	ENSP00000386840:Q1744L;ENSP00000295237:Q1744L;ENSP00000387255:Q1522L	ENSP00000295237:Q1744L	Q	+	2	0	XIRP2	167811379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.874000	0.39568	0.959000	0.37980	0.519000	0.50382	CAG		PASS	0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		17	21	17	21	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106057	168106057	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:168106057G>C	ENST00000409195.1	+	9	8244	c.8155G>C	c.(8155-8157)Gat>Cat	p.D2719H	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2719H|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2497H|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2544					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D2719H(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAACTCTAGATCATACATT	0.348																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8155-8157)GAT>CAT		xin actin-binding repeat containing 2 isoform 1							90.0	88.0	89.0					2																	168106057		1843	4081	5924	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106057G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8155G>C	2.37:g.168106057G>C	ENSP00000386840:p.Asp2719His					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D2544H|XIRP2_uc010fpq.2_Missense_Mutation_p.D2497H|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.D65H	p.D2719H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8173	+			2544					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8155G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062744	0.55432	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03496	3.92;3.92;3.91	5.86	5.86	0.93980	.	0.636038	0.16887	N	0.195462	T	0.06280	0.0162	L	0.60455	1.87	0.41772	D	0.989776	P;P;P	0.45531	0.657;0.767;0.86	B;B;B	0.34301	0.087;0.179;0.179	T	0.26258	-1.0108	10	0.66056	D	0.02	-14.2816	18.9734	0.92724	0.0:0.0:1.0:0.0	.	2544;2544;2497	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	2719;2719;2497;133	ENSP00000386840:D2719H;ENSP00000295237:D2719H;ENSP00000387255:D2497H	ENSP00000295237:D2719H	D	+	1	0	XIRP2	167814303	1.000000	0.71417	0.297000	0.24988	0.247000	0.25773	4.347000	0.59373	2.776000	0.95493	0.655000	0.94253	GAT		PASS	0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		17	83	17	83	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170042267	170042267	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:170042267G>A	ENST00000263816.3	-	50	9876	c.9591C>T	c.(9589-9591)atC>atT	p.I3197I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3197					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.I3197I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GATAGGGTTCGATGTTACTGT	0.438																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9589-9591)ATC>ATT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						162.0	168.0	166.0					2																	170042267		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042267G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9591C>T	2.37:g.170042267G>A							p.I3197I	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	9804	-			3197			Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.9591C>T	CCDS2232.1																																																																																				PASS	0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		36	116	36	116	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179636118	179636118	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:179636118G>A	ENST00000591111.1	-	34	8160	c.7936C>T	c.(7936-7938)Cca>Tca	p.P2646S	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P2646S|TTN_ENST00000360870.5_Missense_Mutation_p.P2646S|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P2600S|TTN_ENST00000460472.2_Missense_Mutation_p.P2600S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P2646S|TTN_ENST00000359218.5_Missense_Mutation_p.P2600S			Q8WZ42	TITIN_HUMAN	titin	12971	Ig-like 15.				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.P2646S(3)|p.P2600S(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)			TTGGAATCTGGGTTGGCAACT	0.483																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(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.(7936-7938)CCA>TCA		titin isoform N2-A							182.0	145.0	157.0					2																	179636118		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179636118G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7936C>T	2.37:g.179636118G>A	ENSP00000465570:p.Pro2646Ser					TTN_uc010zfh.1_Missense_Mutation_p.P2600S|TTN_uc010zfi.1_Missense_Mutation_p.P2600S|TTN_uc010zfj.1_Missense_Mutation_p.P2600S|TTN_uc002unb.2_Missense_Mutation_p.P2646S	p.P2646S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		34	8160	-			2646					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.7936C>T		.	.	.	.	.	.	.	.	.	.	G	15.57	2.871395	0.51695	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38612	0.1047	M	0.82433	2.59	0.37886	D	0.930561	D;D;D;D;D	0.76494	0.984;0.984;0.984;0.992;0.999	P;P;P;D;D	0.65323	0.85;0.85;0.85;0.913;0.934	T	0.29701	-1.0003	9	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	2600;2600;2600;2646;2646	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	2646;2600;2600;2600;2600;2646	ENSP00000343764:P2646S;ENSP00000434586:P2600S;ENSP00000340554:P2600S;ENSP00000352154:P2600S;ENSP00000354117:P2646S	ENSP00000340554:P2600S	P	-	1	0	TTN	179344363	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.246000	0.65411	2.873000	0.98535	0.561000	0.74099	CCA		PASS	0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	28	15	28	---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	207008770	207008770	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:207008770T>A	ENST00000233190.6	-	10	1225	c.959A>T	c.(958-960)gAg>gTg	p.E320V	NDUFS1_ENST00000423725.1_Missense_Mutation_p.E263V|NDUFS1_ENST00000455934.2_Missense_Mutation_p.E334V|NDUFS1_ENST00000457011.1_Missense_Mutation_p.E204V|NDUFS1_ENST00000432169.1_Missense_Mutation_p.E209V|NDUFS1_ENST00000440274.1_Missense_Mutation_p.E284V|NDUFS1_ENST00000449699.1_Missense_Mutation_p.E320V	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	320					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.E320V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGCGCATCCTCCCAAGAAGT	0.393																																						uc002vbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(958-960)GAG>GTG		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						109.0	105.0	106.0					2																	207008770		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207008770T>A		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.959A>T	2.37:g.207008770T>A	ENSP00000233190:p.Glu320Val					NDUFS1_uc010ziq.1_Missense_Mutation_p.E334V|NDUFS1_uc010zir.1_Missense_Mutation_p.E284V|NDUFS1_uc010zis.1_Missense_Mutation_p.E263V|NDUFS1_uc010zit.1_Missense_Mutation_p.E209V|NDUFS1_uc010ziu.1_Missense_Mutation_p.E204V	p.E320V	NM_005006	NP_004997	P28331	NDUS1_HUMAN			10	1086	-			320					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.959A>T	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203075	0.79127	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.87	5.87	0.94306	Molybdopterin oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.88789	0.6532	M	0.64630	1.985	0.80722	D	1	B;P;B;B	0.38535	0.115;0.635;0.314;0.314	B;P;B;B	0.44811	0.222;0.461;0.219;0.219	D	0.89163	0.3531	10	0.59425	D	0.04	-25.601	16.2774	0.82651	0.0:0.0:0.0:1.0	.	209;284;334;320	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	V	320;263;204;284;334;320;209	ENSP00000233190:E320V;ENSP00000397760:E263V;ENSP00000400976:E204V;ENSP00000409766:E284V;ENSP00000392709:E334V;ENSP00000399912:E320V;ENSP00000409689:E209V	ENSP00000233190:E320V	E	-	2	0	NDUFS1	206717015	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.964000	0.87933	2.247000	0.74100	0.482000	0.46254	GAG		PASS	0.393	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		25	23	25	23	---	---	---	---
IQCA1	79781	broad.mit.edu	37	2	237300976	237300976	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:237300976C>A	ENST00000409907.3	-	10	1502	c.1228G>T	c.(1228-1230)Gat>Tat	p.D410Y	IQCA1_ENST00000309507.5_Missense_Mutation_p.D406Y|IQCA1_ENST00000431676.2_Missense_Mutation_p.D369Y|IQCA1_ENST00000465621.1_5'UTR|AC019068.2_ENST00000413353.1_RNA	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	410	Lys-rich.						ATP binding (GO:0005524)	p.D417Y(1)|p.D410Y(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CAAGACTCATCTTTTTTCATC	0.333																																						uc002vvz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1228-1230)GAT>TAT		IQ motif containing with AAA domain 1							72.0	61.0	65.0					2																	237300976		1820	4074	5894	SO:0001583	missense	79781						ATP binding	g.chr2:237300976C>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1228G>T	2.37:g.237300976C>A	ENSP00000387347:p.Asp410Tyr					IQCA1_uc002vwb.2_Missense_Mutation_p.D417Y|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.D369Y	p.D410Y	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			10	1410	-			410			Lys-rich.		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.1228G>T	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.49|13.49	2.252401|2.252401	0.39797|0.39797	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437|ENST00000418802	D;D;D|.	0.94966|.	-3.49;-3.49;-3.57|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.74997|0.74997	0.3790|0.3790	M|M	0.70842|0.70842	2.15|2.15	0.50813|0.50813	D|D	0.999893|0.999893	P;B;P|.	0.45672|.	0.864;0.223;0.551|.	B;B;B|.	0.43155|.	0.274;0.168;0.41|.	T|T	0.73767|0.73767	-0.3879|-0.3879	10|5	0.07030|.	T|.	0.85|.	.|.	17.4826|17.4826	0.87677|0.87677	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	369;417;410|.	E7EWQ0;E9PH78;Q86XH1|.	.;.;IQCA1_HUMAN|.	Y|I	410;417;406;369;406|428	ENSP00000387347:D410Y;ENSP00000311951:D406Y;ENSP00000407213:D369Y|.	ENSP00000254653:D410Y|.	D|R	-|-	1|2	0|0	IQCA1|IQCA1	236965715|236965715	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.701000|0.701000	0.40568|0.40568	2.855000|2.855000	0.48333|0.48333	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GAT|AGA		PASS	0.333	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		3	6	3	6	---	---	---	---
RTP5	285093	broad.mit.edu	37	2	242814655	242814655	+	Silent	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr2:242814655C>G	ENST00000343216.3	+	2	976	c.948C>G	c.(946-948)gtC>gtG	p.V316V		NM_173821.2	NP_776182.2												p.V316V(1)									ATGGCCTCGTCCCTGTGGGGA	0.657																																						uc010fzu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(946-948)GTC>GTG		hypothetical protein LOC285093							40.0	45.0	44.0					2																	242814655		1988	4144	6132	SO:0001819	synonymous_variant	285093					integral to membrane		g.chr2:242814655C>G																												ENST00000343216.3:c.948C>G	2.37:g.242814655C>G							p.V316V	NM_173821	NP_776182	Q14D33	CB085_HUMAN			2	971	+			316						Silent	SNP	ENST00000343216.3	37	c.948C>G	CCDS42843.1																																																																																				PASS	0.657	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			7	12	7	12	---	---	---	---
CACNA2D2	9254	broad.mit.edu	37	3	50402790	50402790	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:50402790G>A	ENST00000479441.1	-	36	3115	c.3116C>T	c.(3115-3117)tCc>tTc	p.S1039F	XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.S963F|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.S1032F|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.S1039F|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.S1032F|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.S1033F|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.S1040F|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.S1032F|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1039					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S1032F(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CCAGCACCTGGAGCAGTTTCC	0.667																																						uc003daq.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(3115-3117)TCC>TTC		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						55.0	47.0	50.0					3																	50402790		2201	4300	6501	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50402790G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.3116C>T	3.37:g.50402790G>A	ENSP00000418081:p.Ser1039Phe					CACNA2D2_uc003dap.2_Missense_Mutation_p.S1032F|CACNA2D2_uc003dao.2_Silent_p.L77L	p.S1039F	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	36	3154	-			1039			Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.3116C>T	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118017	0.94385	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.2	4.31	0.51392	.	0.132416	0.52532	D	0.000072	D	0.84297	0.5441	M	0.66939	2.045	0.54753	D	0.999988	D;D	0.89917	0.999;1.0	D;D	0.79784	0.979;0.993	D	0.85829	0.1390	10	0.66056	D	0.02	.	15.0541	0.71897	0.0:0.148:0.852:0.0	.	1039;1032	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	F	1040;1033;1032;963;1039;1032;1032;1039	ENSP00000407393:S1040F;ENSP00000404631:S1033F;ENSP00000266039:S1032F;ENSP00000354228:S963F;ENSP00000390526:S1039F;ENSP00000378519:S1032F;ENSP00000390329:S1032F;ENSP00000418081:S1039F	ENSP00000266039:S1032F	S	-	2	0	CACNA2D2	50377794	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.355000	0.79434	1.147000	0.42369	0.655000	0.94253	TCC		PASS	0.667	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		9	9	9	9	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62522231	62522231	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:62522231G>A	ENST00000383710.4	-	12	2341	c.1992C>T	c.(1990-1992)ggC>ggT	p.G664G	CADPS_ENST00000357948.3_Silent_p.G664G|CADPS_ENST00000283269.9_Silent_p.G664G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	664					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.G664G(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATTCATCCATGCCATGTTTTT	0.383																																						uc003dll.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1990-1992)GGC>GGT		Ca2+-dependent secretion activator isoform 1							249.0	246.0	247.0					3																	62522231		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62522231G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1992C>T	3.37:g.62522231G>A						CADPS_uc003dlk.1_Silent_p.G168G|CADPS_uc003dlm.2_Silent_p.G664G|CADPS_uc003dln.2_Silent_p.G664G	p.G664G	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	12	2352	-		Lung SC(41;0.0452)	664					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.1992C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	6.763	0.509751	0.12883	.	.	ENSG00000163618	ENST00000468271;ENST00000478434	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	T	0.76786	0.4036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74200	-0.3742	4	.	.	.	.	20.1224	0.97967	0.0:0.0:1.0:0.0	.	.	.	.	V	9;95	.	.	A	-	2	0	CADPS	62497271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.656000	0.54467	2.832000	0.97577	0.650000	0.86243	GCA		PASS	0.383	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		21	33	21	33	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100594368	100594368	+	Silent	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:100594368C>G	ENST00000284322.5	-	8	931	c.822G>C	c.(820-822)ctG>ctC	p.L274L	ABI3BP_ENST00000471714.1_Silent_p.L274L|ABI3BP_ENST00000495063.1_Silent_p.L274L	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	274					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.L274L(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCACTCCTCCCAGTGGAGCTT	0.438																																						uc003dun.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(820-822)CTG>CTC		ABI gene family, member 3 (NESH) binding protein							105.0	98.0	100.0					3																	100594368		1855	4094	5949	SO:0001819	synonymous_variant	25890					extracellular space		g.chr3:100594368C>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.822G>C	3.37:g.100594368C>G						ABI3BP_uc003duo.2_Silent_p.L267L|ABI3BP_uc003dup.3_Silent_p.L267L	p.L274L	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			8	907	-			274					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	c.822G>C	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.494301	0.01009	.	.	ENSG00000154175	ENST00000483129	.	.	.	5.53	-5.38	0.02673	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.53005	D	0.999967	.	.	.	.	.	.	T	0.40608	-0.9554	4	.	.	.	1.1217	4.1179	0.10090	0.1759:0.5204:0.1729:0.1307	.	.	.	.	R	50	.	.	G	-	1	0	ABI3BP	102077058	0.002000	0.14202	0.012000	0.15200	0.098000	0.18820	-0.589000	0.05767	-0.727000	0.04888	-0.397000	0.06425	GGG		PASS	0.438	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			12	62	12	62	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108211976	108211976	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:108211976C>G	ENST00000273353.3	-	9	876	c.820G>C	c.(820-822)Gtg>Ctg	p.V274L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	274	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V274L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCAATGTCCACAGATGACAGC	0.438																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(820-822)GTG>CTG		myosin, heavy polypeptide 15							97.0	96.0	96.0					3																	108211976		2038	4187	6225	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108211976C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.820G>C	3.37:g.108211976C>G	ENSP00000273353:p.Val274Leu						p.V274L	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			9	877	-			274			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.820G>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722740	0.48728	.	.	ENSG00000144821	ENST00000273353	T	0.71341	-0.56	4.98	4.1	0.47936	Myosin head, motor domain (2);	.	.	.	.	T	0.56906	0.2017	N	0.12182	0.205	0.24627	N	0.993644	B	0.20164	0.042	B	0.26614	0.071	T	0.55302	-0.8162	9	0.87932	D	0	.	13.6154	0.62105	0.0:0.924:0.0:0.076	.	274	Q9Y2K3	MYH15_HUMAN	L	274	ENSP00000273353:V274L	ENSP00000273353:V274L	V	-	1	0	MYH15	109694666	0.998000	0.40836	0.134000	0.22075	0.060000	0.15804	2.324000	0.43831	1.086000	0.41228	0.650000	0.86243	GTG		PASS	0.438	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		4	60	4	60	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108724127	108724127	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:108724127G>A	ENST00000483760.1	-	18	1783	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	MORC1_ENST00000232603.5_Silent_p.G601G					MORC family CW-type zinc finger 1									p.G601G(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCAAGTCATCGCCCAAAAGCC	0.353																																						uc003dxl.2																			2	Substitution - coding silent(2)		prostate(1)|lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(1801-1803)GGC>GGT		MORC family CW-type zinc finger 1							43.0	43.0	43.0					3																	108724127		2203	4299	6502	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108724127G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1740C>T	3.37:g.108724127G>A						MORC1_uc011bhn.1_Silent_p.G580G	p.G601G	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			19	1890	-			601						Silent	SNP	ENST00000483760.1	37	c.1803C>T																																																																																					PASS	0.353	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			7	56	7	56	---	---	---	---
RABL3	285282	broad.mit.edu	37	3	120408716	120408716	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:120408716C>T	ENST00000273375.3	-	8	694	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.R198Q	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	222	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)	p.R222Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		AAATCTTTTCCGATCAGGAAA	0.378																																						uc003edx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(664-666)CGG>CAG		RAB, member of RAS oncogene family-like 3							120.0	121.0	121.0					3																	120408716		2203	4296	6499	SO:0001583	missense	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120408716C>T	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.665G>A	3.37:g.120408716C>T	ENSP00000273375:p.Arg222Gln						p.R222Q	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	8	695	-			222			Small GTPase-like.		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	c.665G>A	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953637	0.73902	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.75821	-0.72;-0.97	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	N	0.08118	0	0.51767	D	0.999939	D	0.55385	0.971	B	0.37888	0.26	T	0.61322	-0.7086	10	0.35671	T	0.21	-6.9555	17.2393	0.87008	0.0:1.0:0.0:0.0	.	222	Q5HYI8	RABL3_HUMAN	Q	222;198	ENSP00000273375:R222Q;ENSP00000419986:R198Q	ENSP00000273375:R222Q	R	-	2	0	RABL3	121891406	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.567000	0.53813	2.756000	0.94617	0.655000	0.94253	CGG		PASS	0.378	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		11	100	11	100	---	---	---	---
EEFSEC	60678	broad.mit.edu	37	3	127965812	127965812	+	Silent	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:127965812C>G	ENST00000254730.6	+	2	504	c.450C>G	c.(448-450)ctC>ctG	p.L150L	EEFSEC_ENST00000483457.1_Silent_p.L150L	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	150	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.L150L(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AAATAGACCTCTTACCTGAAG	0.483																																						uc003eki.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(448-450)CTC>CTG		eukaryotic elongation factor,							172.0	174.0	173.0					3																	127965812		2203	4300	6503	SO:0001819	synonymous_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127965812C>G		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.450C>G	3.37:g.127965812C>G						EEFSEC_uc003ekj.2_Silent_p.L150L	p.L150L	NM_021937	NP_068756	P57772	SELB_HUMAN			2	488	+			150			GTP (Potential).		Q96HZ6	Silent	SNP	ENST00000254730.6	37	c.450C>G	CCDS33849.1																																																																																				PASS	0.483	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		86	253	86	253	---	---	---	---
AGTR1	185	broad.mit.edu	37	3	148459456	148459456	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:148459456C>A	ENST00000497524.1	+	2	1025	c.634C>A	c.(634-636)Ctt>Att	p.L212I	AGTR1_ENST00000474935.1_Missense_Mutation_p.L212I|AGTR1_ENST00000349243.3_Missense_Mutation_p.L212I|AGTR1_ENST00000542281.1_Missense_Mutation_p.L212I|AGTR1_ENST00000404754.2_Missense_Mutation_p.L212I|AGTR1_ENST00000402260.1_Missense_Mutation_p.L212I|AGTR1_ENST00000461609.1_Missense_Mutation_p.L212I|AGTR1_ENST00000418473.2_Missense_Mutation_p.L212I|AGTR1_ENST00000475347.1_Missense_Mutation_p.L212I	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	212					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.L212I(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TCTGATCATTCTTACAAGTTA	0.363																																						uc003ewg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)CTT>ATT		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						57.0	62.0	61.0					3																	148459456		2197	4299	6496	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459456C>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.634C>A	3.37:g.148459456C>A	ENSP00000419422:p.Leu212Ile					AGTR1_uc003ewh.2_Missense_Mutation_p.L212I|AGTR1_uc003ewi.2_Missense_Mutation_p.L212I|AGTR1_uc003ewj.2_Missense_Mutation_p.L212I|AGTR1_uc003ewk.2_Missense_Mutation_p.L212I	p.L212I	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1080	+			212			Helical; Name=5; (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.634C>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	9.617	1.132859	0.21041	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.071226	0.56097	D	0.000033	T	0.42063	0.1186	N	0.20986	0.625	0.45366	D	0.998354	B	0.21452	0.056	B	0.28305	0.088	T	0.30149	-0.9988	10	0.22706	T	0.39	-20.7695	9.3033	0.37858	0.0:0.8018:0.0:0.1982	.	212	P30556	AGTR1_HUMAN	I	212	ENSP00000419422:L212I;ENSP00000273430:L212I;ENSP00000443186:L212I;ENSP00000398832:L212I;ENSP00000385612:L212I;ENSP00000419783:L212I;ENSP00000418084:L212I;ENSP00000418851:L212I;ENSP00000385641:L212I	ENSP00000273430:L212I	L	+	1	0	AGTR1	149942146	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	2.011000	0.40922	2.572000	0.86782	0.655000	0.94253	CTT		PASS	0.363	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			8	56	8	56	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151164451	151164451	+	Silent	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:151164451G>T	ENST00000282466.3	-	4	3317	c.3318C>A	c.(3316-3318)gtC>gtA	p.V1106V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1106					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.V1106V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGGATTCTGGACTAGAGTTG	0.443																																						uc011bod.1																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(3316-3318)GTC>GTA		immunoglobulin superfamily, member 10 precursor							126.0	132.0	130.0					3																	151164451		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164451G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3318C>A	3.37:g.151164451G>T							p.V1106V	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3318	-			1106					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.3318C>A	CCDS3160.1																																																																																				PASS	0.443	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		31	184	31	184	---	---	---	---
GPR149	344758	broad.mit.edu	37	3	154055904	154055904	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:154055904A>T	ENST00000389740.2	-	4	1879	c.1780T>A	c.(1780-1782)Tcc>Acc	p.S594T		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	594					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S594T(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACACTTTTGGATCGATAGACT	0.413																																						uc003faa.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1780-1782)TCC>ACC		G protein-coupled receptor 149							128.0	127.0	128.0					3																	154055904		1850	4097	5947	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055904A>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1780T>A	3.37:g.154055904A>T	ENSP00000374390:p.Ser594Thr						p.S594T	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1880	-			594			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000389740.2	37	c.1780T>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625135	0.87560	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.64702	0.2622	N	0.24115	0.695	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.69749	-0.5061	9	0.87932	D	0	-18.6375	15.7093	0.77612	1.0:0.0:0.0:0.0	.	594	Q86SP6	GP149_HUMAN	T	594	.	ENSP00000374390:S594T	S	-	1	0	GPR149	155538598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.789000	0.91839	2.113000	0.64589	0.528000	0.53228	TCC		PASS	0.413	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		10	177	10	177	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155203419	155203419	+	Silent	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:155203419T>C	ENST00000340059.7	-	22	2723	c.2724A>G	c.(2722-2724)gtA>gtG	p.V908V	PLCH1_ENST00000414191.1_Silent_p.V870V|PLCH1_ENST00000460012.1_Silent_p.V870V|PLCH1_ENST00000334686.6_Silent_p.V870V|PLCH1_ENST00000494598.1_Silent_p.V888V|PLCH1_ENST00000447496.2_Silent_p.V908V|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	908					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.V870V(2)|p.V908V(2)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATCGCTTCCGTACATAATGGG	0.463																																						uc011bok.1																			4	Substitution - coding silent(4)		lung(4)	skin(3)|ovary(1)	4						c.(2722-2724)GTA>GTG		phospholipase C eta 1 isoform a							95.0	92.0	93.0					3																	155203419		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203419T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2724A>G	3.37:g.155203419T>C						PLCH1_uc011boj.1_Silent_p.V908V|PLCH1_uc011bol.1_Silent_p.V870V	p.V908V	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3001	-			908					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.2724A>G	CCDS46939.1																																																																																				PASS	0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		38	23	38	23	---	---	---	---
SI	6476	broad.mit.edu	37	3	164709160	164709160	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:164709160C>A	ENST00000264382.3	-	44	5151	c.5089G>T	c.(5089-5091)Gct>Tct	p.A1697S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1697	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.A1697S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTGTTTTGAGCTGGCTCTTGA	0.368										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(5089-5091)GCT>TCT		sucrase-isomaltase	Acarbose(DB00284)						148.0	137.0	140.0					3																	164709160		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164709160C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5089G>T	3.37:g.164709160C>A	ENSP00000264382:p.Ala1697Ser	HNSCC(35;0.089)					p.A1697S	NM_001041	NP_001032	P14410	SUIS_HUMAN			44	5151	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1697			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.5089G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138871	0.56936	.	.	ENSG00000090402	ENST00000264382	D	0.89810	-2.57	4.78	2.94	0.34122	.	0.253677	0.39909	N	0.001239	D	0.90820	0.7117	M	0.82132	2.575	0.33872	D	0.635108	B	0.18310	0.027	B	0.39876	0.312	D	0.92163	0.5737	10	0.49607	T	0.09	.	10.9477	0.47310	0.0:0.8418:0.0:0.1582	.	1697	P14410	SUIS_HUMAN	S	1697	ENSP00000264382:A1697S	ENSP00000264382:A1697S	A	-	1	0	SI	166191854	0.990000	0.36364	0.509000	0.27700	0.772000	0.43724	3.208000	0.51114	1.234000	0.43709	0.467000	0.42956	GCT		PASS	0.368	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		18	77	18	77	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171320967	171320967	+	Silent	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:171320967T>C	ENST00000351298.4	-	27	3252	c.3126A>G	c.(3124-3126)ggA>ggG	p.G1042G	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Silent_p.G1004G	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	1042					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.G1042G(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCACCAAAAATCCACGGATCT	0.433																																					NSCLC(149;2174 3517 34058)	uc003fhs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(3124-3126)GGA>GGG		phospholipase D1 isoform a	Choline(DB00122)						121.0	117.0	118.0					3																	171320967		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171320967T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.3126A>G	3.37:g.171320967T>C						PLD1_uc003fht.2_Silent_p.G1004G	p.G1042G	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		27	3242	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		1042						Silent	SNP	ENST00000351298.4	37	c.3126A>G	CCDS3216.1																																																																																				PASS	0.433	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		18	63	18	63	---	---	---	---
NDUFB5	4711	broad.mit.edu	37	3	179322629	179322629	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:179322629G>C	ENST00000259037.3	+	1	140	c.26G>C	c.(25-27)cGg>cCg	p.R9P	MRPL47_ENST00000259038.2_5'Flank|MRPL47_ENST00000392659.2_5'Flank|NDUFB5_ENST00000493866.1_Missense_Mutation_p.R9P|MRPL47_ENST00000476781.1_5'Flank|NDUFB5_ENST00000472629.1_Missense_Mutation_p.R9P	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	9					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R9P(1)		endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TTGTTGCGGCGGGTTTCGGTT	0.607																																						uc003fkc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(25-27)CGG>CCG		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						38.0	39.0	39.0					3																	179322629		2203	4300	6503	SO:0001583	missense	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179322629G>C	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.26G>C	3.37:g.179322629G>C	ENSP00000259037:p.Arg9Pro					MRPL47_uc003fjz.2_5'Flank|MRPL47_uc003fka.2_5'Flank|MRPL47_uc003fkb.2_5'Flank|NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Missense_Mutation_p.R9P	p.R9P	NM_002492	NP_002483	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		1	55	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		9					Q561V6	Missense_Mutation	SNP	ENST00000259037.3	37	c.26G>C	CCDS3234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.43|17.43	3.386827|3.386827	0.61956|0.61956	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000482604|ENST00000259037;ENST00000493866;ENST00000472629	.|T;T;T	.|0.63096	.|0.82;-0.02;0.82	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.148610	.|0.48767	.|D	.|0.000168	T|T	0.79399|0.79399	0.4439|0.4439	M|M	0.74881|0.74881	2.28|2.28	0.42771|0.42771	D|D	0.993839|0.993839	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.85130	.|0.997;0.959	T|T	0.79591|0.79591	-0.1740|-0.1740	6|10	0.87932|0.54805	D|T	0|0.06	-14.8355|-14.8355	17.2187|17.2187	0.86951|0.86951	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|9;9	.|Q561V6;O43674	.|.;NDUB5_HUMAN	R|P	6|9	.|ENSP00000259037:R9P;ENSP00000419656:R9P;ENSP00000419248:R9P	ENSP00000419099:G1R|ENSP00000259037:R9P	G|R	+|+	1|2	0|0	NDUFB5|NDUFB5	180805323|180805323	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.015000|0.015000	0.08874|0.08874	4.056000|4.056000	0.57448|0.57448	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GGG|CGG		PASS	0.607	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		22	36	22	36	---	---	---	---
IGF2BP2	10644	broad.mit.edu	37	3	185407290	185407290	+	Missense_Mutation	SNP	C	C	T	rs200474932		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:185407290C>T	ENST00000382199.2	-	6	625	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	IGF2BP2_ENST00000421047.2_Missense_Mutation_p.R120Q|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.R183Q|IGF2BP2_ENST00000494906.1_5'Flank|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.R177Q	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	177					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.R177Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GCCTTGCTCCCGGGAAGAGTG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		15918	0.0		0.001	False		,,,				2504	0.0					uc003fpo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)CGG>CAG		insulin-like growth factor 2 mRNA binding							56.0	61.0	59.0					3																	185407290		2203	4300	6503	SO:0001583	missense	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185407290C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.530G>A	3.37:g.185407290C>T	ENSP00000371634:p.Arg177Gln					IGF2BP2_uc010hyi.2_Missense_Mutation_p.R120Q|IGF2BP2_uc010hyj.2_Missense_Mutation_p.R114Q|IGF2BP2_uc010hyk.2_Missense_Mutation_p.R41Q|IGF2BP2_uc010hyl.2_Missense_Mutation_p.R114Q|IGF2BP2_uc003fpp.2_Missense_Mutation_p.R177Q|IGF2BP2_uc003fpq.2_Missense_Mutation_p.R182Q	p.R177Q	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		6	609	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		177					A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.530G>A	CCDS3273.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.3	4.397617	0.83120	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.47869	2.17;0.83;2.39;2.17	5.46	4.59	0.56863	.	0.246248	0.39759	N	0.001280	T	0.54598	0.1868	L	0.40543	1.245	0.54753	D	0.99998	D;D;D;D;B;D	0.89917	0.995;0.999;1.0;0.999;0.24;0.999	P;D;D;D;B;D	0.68621	0.784;0.959;0.959;0.959;0.146;0.957	T	0.47787	-0.9090	10	0.14252	T	0.57	-6.8173	13.147	0.59467	0.0:0.922:0.0:0.078	.	114;114;120;183;177;177	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	Q	177;120;183;177	ENSP00000371634:R177Q;ENSP00000413787:R120Q;ENSP00000410242:R183Q;ENSP00000320204:R177Q	ENSP00000320204:R177Q	R	-	2	0	IGF2BP2	186889984	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.813000	0.62620	1.434000	0.47414	0.655000	0.94253	CGG		PASS	0.602	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		13	107	13	107	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194167745	194167745	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:194167745G>C	ENST00000439040.1	-	14	2199	c.1408C>G	c.(1408-1410)Cag>Gag	p.Q470E	ATP13A3_ENST00000256031.4_Missense_Mutation_p.Q470E			Q9H7F0	AT133_HUMAN	ATPase type 13A3	470						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.Q470E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AGTCTTCTCTGAGCATACACA	0.403																																						uc003fty.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1408-1410)CAG>GAG		ATPase type 13A3							94.0	88.0	90.0					3																	194167745		1870	4111	5981	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194167745G>C	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1408C>G	3.37:g.194167745G>C	ENSP00000416508:p.Gln470Glu					ATP13A3_uc003ftz.1_Missense_Mutation_p.Q176E	p.Q470E	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	13	1810	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	470					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.1408C>G	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144115	0.94603	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.90504	-2.68;-2.68	5.21	5.21	0.72293	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	M	0.86178	2.8	0.80722	D	1	D	0.55385	0.971	P	0.61328	0.887	D	0.95096	0.8226	10	0.46703	T	0.11	1.8769	18.7404	0.91772	0.0:0.0:1.0:0.0	.	470	Q9H7F0	AT133_HUMAN	E	470;470;208	ENSP00000416508:Q470E;ENSP00000256031:Q470E	ENSP00000256031:Q470E	Q	-	1	0	ATP13A3	195649034	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.369000	0.97156	2.396000	0.81511	0.585000	0.79938	CAG		PASS	0.403	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		7	108	7	108	---	---	---	---
BDH1	622	broad.mit.edu	37	3	197260416	197260416	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:197260416C>A	ENST00000392378.2	-	3	410	c.100G>T	c.(100-102)Ggt>Tgt	p.G34C	BDH1_ENST00000358186.2_Missense_Mutation_p.G34C|BDH1_ENST00000441275.1_5'UTR|BDH1_ENST00000392379.1_Missense_Mutation_p.G34C	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	34					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)	p.G34C(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		GAAGTAGAACCAAGCAATAGT	0.572																																						uc003fxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(100-102)GGT>TGT		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						95.0	85.0	88.0					3																	197260416		2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197260416C>A	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.100G>T	3.37:g.197260416C>A	ENSP00000376183:p.Gly34Cys					BDH1_uc003fxs.2_Missense_Mutation_p.G34C|BDH1_uc003fxt.2_5'UTR|BDH1_uc003fxu.2_Missense_Mutation_p.G34C	p.G34C	NM_203314	NP_976059	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	4	502	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	34					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.100G>T	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	C	8.481	0.859781	0.17178	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000434143;ENST00000432819;ENST00000431056;ENST00000445160	T;T;T;D;D;D	0.86694	-1.32;-1.32;-1.32;-2.16;-2.09;-1.64	4.27	-4.92	0.03075	.	2.982000	0.00829	N	0.001659	T	0.67906	0.2943	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60459	-0.7259	10	0.38643	T	0.18	.	5.4589	0.16606	0.3182:0.3096:0.3722:0.0	.	34	Q02338	BDH_HUMAN	C	34;34;34;15;34;34;34	ENSP00000376183:G34C;ENSP00000350914:G34C;ENSP00000376184:G34C;ENSP00000408685:G15C;ENSP00000409849:G34C;ENSP00000396149:G34C	ENSP00000350914:G34C	G	-	1	0	BDH1	198744813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.089000	0.11180	-0.593000	0.05844	-0.276000	0.10085	GGT		PASS	0.572	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		6	145	6	145	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5687126	5687126	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr4:5687126C>A	ENST00000344408.5	-	6	840	c.787G>T	c.(787-789)Gcc>Tcc	p.A263S	EVC2_ENST00000310917.2_Missense_Mutation_p.A183S|EVC2_ENST00000344938.1_Missense_Mutation_p.A263S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	263					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A263S(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GTGAGTTGGGCAGGAAGCTTG	0.527																																						uc003gij.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(787-789)GCC>TCC		limbin							151.0	140.0	144.0					4																	5687126		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5687126C>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.787G>T	4.37:g.5687126C>A	ENSP00000342144:p.Ala263Ser					EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.A183S	p.A263S	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			6	841	-			263					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.787G>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009332	0.54361	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	D;D;D	0.86366	-2.11;-2.11;-2.11	4.52	4.52	0.55395	.	0.085303	0.48767	D	0.000176	D	0.90099	0.6907	L	0.45137	1.4	0.39037	D	0.960055	D	0.89917	1.0	D	0.77004	0.989	D	0.91424	0.5161	10	0.66056	D	0.02	-14.5397	13.1279	0.59366	0.0:1.0:0.0:0.0	.	263	Q86UK5	LBN_HUMAN	S	263;183;263	ENSP00000339954:A263S;ENSP00000311683:A183S;ENSP00000342144:A263S	ENSP00000311683:A183S	A	-	1	0	EVC2	5738027	0.991000	0.36638	0.972000	0.41901	0.078000	0.17371	3.021000	0.49651	2.225000	0.72522	0.655000	0.94253	GCC		PASS	0.527	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		73	52	73	52	---	---	---	---
BST1	683	broad.mit.edu	37	4	15716916	15716916	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr4:15716916G>T	ENST00000265016.4	+	5	738	c.543G>T	c.(541-543)aaG>aaT	p.K181N	BST1_ENST00000382346.3_Missense_Mutation_p.K196N	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	181					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)	p.K181N(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						AGTATTCCAAGGATAGTTCTG	0.388																																						uc003goh.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(541-543)AAG>AAT		bone marrow stromal cell antigen 1 precursor							119.0	113.0	115.0					4																	15716916		2203	4300	6503	SO:0001583	missense	683				humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	g.chr4:15716916G>T	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.543G>T	4.37:g.15716916G>T	ENSP00000265016:p.Lys181Asn					BST1_uc003goi.2_Translation_Start_Site	p.K181N	NM_004334	NP_004325	Q10588	BST1_HUMAN			5	738	+			181					B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	ENST00000265016.4	37	c.543G>T	CCDS3416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.525|8.525	0.869631|0.869631	0.17322|0.17322	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000265016;ENST00000382346;ENST00000514445|ENST00000505785	T;T;T|.	0.15017|.	2.46;2.46;2.46|.	6.16|6.16	-1.63|-1.63	0.08345|0.08345	.|.	2.192470|.	0.01311|.	N|.	0.010630|.	T|T	0.38453|0.38453	0.1041|0.1041	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	0.999999|0.999999	P|.	0.44241|.	0.829|.	B|.	0.34385|.	0.181|.	T|T	0.38779|0.38779	-0.9645|-0.9645	10|5	0.36615|.	T|.	0.2|.	-0.1892|-0.1892	6.2989|6.2989	0.21101|0.21101	0.4397:0.0:0.4343:0.126|0.4397:0.0:0.4343:0.126	.|.	181|.	Q10588|.	BST1_HUMAN|.	N|M	181;196;31|77	ENSP00000265016:K181N;ENSP00000371783:K196N;ENSP00000420925:K31N|.	ENSP00000265016:K181N|.	K|R	+|+	3|2	2|0	BST1|BST1	15326014|15326014	0.021000|0.021000	0.18746|0.18746	0.031000|0.031000	0.17742|0.17742	0.268000|0.268000	0.26511|0.26511	-0.025000|-0.025000	0.12413|0.12413	-0.191000|-0.191000	0.10448|0.10448	-0.355000|-0.355000	0.07637|0.07637	AAG|AGG		PASS	0.388	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334		4	27	4	27	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072866	134072866	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr4:134072866A>G	ENST00000264360.5	+	1	2397	c.1571A>G	c.(1570-1572)tAc>tGc	p.Y524C	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y524C(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGAACGGCTACTTGTACGCC	0.587																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1570-1572)TAC>TGC		protocadherin 10 isoform 1 precursor							68.0	72.0	70.0					4																	134072866		2201	4294	6495	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072866A>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1571A>G	4.37:g.134072866A>G	ENSP00000264360:p.Tyr524Cys					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.Y524C	p.Y524C	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2397	+			524			Extracellular (Potential).|Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1571A>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276061	0.23307	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51574	0.7	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.000000	0.39146	N	0.001441	T	0.58708	0.2141	L	0.58101	1.795	0.54753	D	0.999986	D;P	0.65815	0.995;0.711	D;B	0.65773	0.938;0.276	T	0.57676	-0.7770	10	0.39692	T	0.17	.	8.9117	0.35557	0.8332:0.0:0.0:0.1668	.	524;524	Q9P2E7;Q96SF0	PCD10_HUMAN;.	C	524	ENSP00000264360:Y524C	ENSP00000264360:Y524C	Y	+	2	0	PCDH10	134292316	0.977000	0.34250	1.000000	0.80357	0.997000	0.91878	2.156000	0.42310	1.889000	0.54706	0.533000	0.62120	TAC		PASS	0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		9	39	9	39	---	---	---	---
TBC1D9	23158	broad.mit.edu	37	4	141600878	141600878	+	Silent	SNP	G	G	C	rs200524034	byFrequency	TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr4:141600878G>C	ENST00000442267.2	-	4	554	c.480C>G	c.(478-480)ctC>ctG	p.L160L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	160	GRAM 1.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.L160L(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AATAGTTGACGAGTTTCTCTT	0.418																																						uc010ioj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(478-480)CTC>CTG		TBC1 domain family, member 9 (with GRAM domain)							84.0	82.0	83.0					4																	141600878		1863	4085	5948	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141600878G>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.480C>G	4.37:g.141600878G>C							p.L160L	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			4	752	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	160			GRAM 1.		A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.480C>G	CCDS47136.1																																																																																				PASS	0.418	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		6	26	6	26	---	---	---	---
RNF150	57484	broad.mit.edu	37	4	141888789	141888789	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr4:141888789C>G	ENST00000515673.2	-	2	756	c.723G>C	c.(721-723)agG>agC	p.R241S	RNF150_ENST00000379512.2_Missense_Mutation_p.R100S|RNF150_ENST00000306799.3_Intron|RNF150_ENST00000420921.2_Missense_Mutation_p.R100S|RNF150_ENST00000507500.1_Missense_Mutation_p.R241S|RNF150_ENST00000515057.1_5'UTR			Q9ULK6	RN150_HUMAN	ring finger protein 150	241						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.R241S(1)|p.R150S(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GGTTCCTATCCCTGGCATTTG	0.368																																						uc003iio.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(721-723)AGG>AGC		ring finger protein 150 precursor							57.0	57.0	57.0					4																	141888789		2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141888789C>G	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.723G>C	4.37:g.141888789C>G	ENSP00000425840:p.Arg241Ser					RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Missense_Mutation_p.R241S	p.R241S	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN			2	1377	-	all_hematologic(180;0.162)		241			Cytoplasmic (Potential).		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.723G>C	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044947	0.55110	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T	0.19105	2.17;2.17;3.19;3.19;2.28	6.07	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.28556	0.865	0.54753	D	0.999984	P;P	0.45126	0.851;0.609	P;B	0.51582	0.674;0.342	T	0.01492	-1.1341	10	0.48119	T	0.1	.	8.9544	0.35809	0.0:0.6674:0.0:0.3326	.	241;241	Q9ULK6-3;Q9ULK6	.;RN150_HUMAN	S	100;100;241;241;72	ENSP00000368827:R100S;ENSP00000394581:R100S;ENSP00000425840:R241S;ENSP00000425568:R241S;ENSP00000425947:R72S	ENSP00000368827:R100S	R	-	3	2	RNF150	142108239	0.964000	0.33143	1.000000	0.80357	0.998000	0.95712	0.088000	0.14979	0.906000	0.36621	0.650000	0.86243	AGG		PASS	0.368	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		14	38	14	38	---	---	---	---
HHIP	64399	broad.mit.edu	37	4	145655962	145655962	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr4:145655962G>T	ENST00000296575.3	+	12	2485	c.1830G>T	c.(1828-1830)agG>agT	p.R610S		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	610	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.R610S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGTGCTCCAGGCTCTGTCGAA	0.502																																						uc003ijs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1828-1830)AGG>AGT		hedgehog-interacting protein precursor							94.0	89.0	91.0					4																	145655962		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145655962G>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1830G>T	4.37:g.145655962G>T	ENSP00000296575:p.Arg610Ser						p.R610S	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	12	2485	+	all_hematologic(180;0.151)		610			EGF-like 1.		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1830G>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112343	0.56398	.	.	ENSG00000164161	ENST00000296575	T	0.05649	3.41	6.05	1.44	0.22558	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	N	0.12611	0.24	0.80722	D	1	D	0.56968	0.978	D	0.66351	0.943	T	0.41592	-0.9500	10	0.42905	T	0.14	-17.2131	5.7918	0.18365	0.2572:0.236:0.5068:0.0	.	610	Q96QV1	HHIP_HUMAN	S	610	ENSP00000296575:R610S	ENSP00000296575:R610S	R	+	3	2	HHIP	145875412	0.995000	0.38212	0.999000	0.59377	0.371000	0.29859	0.361000	0.20267	0.157000	0.19338	-0.894000	0.02916	AGG		PASS	0.502	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			11	28	11	28	---	---	---	---
ABCE1	6059	broad.mit.edu	37	4	146026771	146026771	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr4:146026771G>C	ENST00000296577.4	+	3	633	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	40					negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)	p.E40Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATTATGCATAGAGGTTACACC	0.328																																						uc003ijx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(118-120)GAG>CAG		ATP-binding cassette, sub-family E, member 1							123.0	132.0	129.0					4																	146026771		2203	4299	6502	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146026771G>C	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.118G>C	4.37:g.146026771G>C	ENSP00000296577:p.Glu40Gln					ABCE1_uc003ijy.2_Missense_Mutation_p.E40Q|ABCE1_uc010iot.2_RNA	p.E40Q	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN			3	558	+	all_hematologic(180;0.151)		40					O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.118G>C	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627796	0.66901	.	.	ENSG00000164163	ENST00000296577;ENST00000502586	D	0.91351	-2.83	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	L	0.38531	1.155	0.80722	D	1	B	0.30439	0.279	B	0.38921	0.285	D	0.86422	0.1755	10	0.34782	T	0.22	-17.4006	18.6159	0.91303	0.0:0.0:1.0:0.0	.	40	P61221	ABCE1_HUMAN	Q	40	ENSP00000296577:E40Q	ENSP00000296577:E40Q	E	+	1	0	ABCE1	146246221	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.338000	0.96553	2.469000	0.83416	0.557000	0.71058	GAG		PASS	0.328	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		13	36	13	36	---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154512253	154512253	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr4:154512253G>T	ENST00000409663.3	+	17	1768	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N	KIAA0922_ENST00000409959.3_Missense_Mutation_p.K573N|KIAA0922_ENST00000440693.1_Intron	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	572						integral component of membrane (GO:0016021)		p.K425N(1)|p.K573N(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGAAATCCAAGGAGTCAGAGT	0.383																																						uc003inm.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1714-1716)AAG>AAT		hypothetical protein LOC23240 isoform 2							143.0	139.0	140.0					4																	154512253		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154512253G>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1716G>T	4.37:g.154512253G>T	ENSP00000386574:p.Lys572Asn					KIAA0922_uc010ipp.2_Missense_Mutation_p.K573N|KIAA0922_uc010ipq.2_Intron	p.K572N	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			17	1768	+	all_hematologic(180;0.093)	Renal(120;0.118)	572			Extracellular (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.1716G>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	11.92	1.784092	0.31593	.	.	ENSG00000121210	ENST00000409663;ENST00000409959	T;T	0.15139	2.45;2.45	5.66	4.8	0.61643	.	0.361976	0.32328	N	0.006260	T	0.12561	0.0305	L	0.47716	1.5	0.80722	D	1	B;B	0.21071	0.051;0.03	B;B	0.16289	0.015;0.007	T	0.13791	-1.0496	10	0.19147	T	0.46	-16.2298	5.4613	0.16617	0.1416:0.0:0.6627:0.1957	.	573;572	A2VDJ0-5;A2VDJ0	.;T131L_HUMAN	N	572;573	ENSP00000386574:K572N;ENSP00000386787:K573N	ENSP00000386574:K572N	K	+	3	2	KIAA0922	154731703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.163000	0.42377	2.833000	0.97629	0.650000	0.86243	AAG		PASS	0.383	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		5	73	5	73	---	---	---	---
TDO2	6999	broad.mit.edu	37	4	156831260	156831260	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr4:156831260G>C	ENST00000536354.2	+	6	579	c.515G>C	c.(514-516)aGa>aCa	p.R172T		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase									p.R172T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		CAGAACATGAGAGTCCCTTAT	0.373																																					Colon(57;928 1036 2595 6946 26094)	uc003ipf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)AGA>ACA		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						97.0	101.0	100.0					4																	156831260		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156831260G>C		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.515G>C	4.37:g.156831260G>C	ENSP00000444788:p.Arg172Thr						p.R172T	NM_005651	NP_005642	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	6	579	+	all_hematologic(180;0.24)	Renal(120;0.0854)	172						Missense_Mutation	SNP	ENST00000536354.2	37	c.515G>C	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574924	0.65878	.	.	ENSG00000151790	ENST00000506072;ENST00000536354	.	.	.	5.05	4.21	0.49690	.	0.043846	0.85682	D	0.000000	T	0.73845	0.3639	M	0.79123	2.44	0.58432	D	0.999999	P	0.48350	0.909	P	0.54401	0.751	T	0.78229	-0.2285	9	0.87932	D	0	-3.1503	13.7497	0.62899	0.0751:0.0:0.9249:0.0	.	172	P48775	T23O_HUMAN	T	65;172	.	ENSP00000281525:R172T	R	+	2	0	TDO2	157050710	1.000000	0.71417	0.888000	0.34837	0.976000	0.68499	7.954000	0.87848	1.263000	0.44181	0.632000	0.83419	AGA		PASS	0.373	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		9	39	9	39	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169342912	169342912	+	Splice_Site	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr4:169342912T>A	ENST00000511577.1	-	17	2640	c.2393A>T	c.(2392-2394)aAg>aTg	p.K798M	DDX60L_ENST00000260184.7_Splice_Site_p.K798M|DDX60L_ENST00000505890.1_Splice_Site_p.K798M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	798	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.K798M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AAACACTACCTTTGCGGGTGC	0.453																																						uc003irq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2392-2394)AAG>ATG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							203.0	206.0	205.0					4																	169342912		2203	4300	6503	SO:0001630	splice_region_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169342912T>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2394+1A>T	4.37:g.169342912T>A						DDX60L_uc003irr.1_Missense_Mutation_p.K798M|DDX60L_uc003irs.1_Missense_Mutation_p.K525M	p.K798M	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	17	2614	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	798			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2393A>T		.	.	.	.	.	.	.	.	.	.	T	12.83	2.055429	0.36277	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	3.82	3.82	0.43975	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.39834	U	0.001245	T	0.56171	0.1967	H	0.98388	4.22	0.46061	D	0.998841	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69654	0.923;0.965;0.923	T	0.72934	-0.4141	10	0.87932	D	0	.	12.2357	0.54514	0.0:0.0:0.0:1.0	.	798;798;798	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	M	798;798;798;526	ENSP00000260184:K798M;ENSP00000422423:K798M;ENSP00000422202:K798M;ENSP00000421026:K526M	ENSP00000260184:K798M	K	-	2	0	DDX60L	169579487	1.000000	0.71417	0.705000	0.30386	0.022000	0.10575	4.712000	0.61888	1.361000	0.45981	0.383000	0.25322	AAG		PASS	0.453	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	Missense_Mutation	36	76	36	76	---	---	---	---
SDHA	6389	broad.mit.edu	37	5	226069	226069	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:226069G>C	ENST00000264932.6	+	5	643	c.528G>C	c.(526-528)caG>caC	p.Q176H	SDHA_ENST00000510361.1_Missense_Mutation_p.Q128H|SDHA_ENST00000504309.1_Missense_Mutation_p.Q176H	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	176					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.Q176H(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TTGGTGGACAGAGCCTCAAGT	0.483									Familial Paragangliomas																													uc003jao.3																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CAG>CAC		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						97.0	94.0	95.0					5																	226069		2203	4300	6503	SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:226069G>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.528G>C	5.37:g.226069G>C	ENSP00000264932:p.Gln176His					SDHA_uc003jan.2_Missense_Mutation_p.Q176H|SDHA_uc011clv.1_Missense_Mutation_p.Q176H|SDHA_uc011clw.1_Missense_Mutation_p.Q128H|SDHA_uc003jap.3_Missense_Mutation_p.Q176H|SDHA_uc003jaq.3_5'Flank	p.Q176H	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		5	643	+			176					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.528G>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	-	16.55	3.154071	0.57259	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.63096	-0.02;-0.02;-0.02	5.29	3.5	0.40072	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.57814	0.2079	N	0.05554	-0.025	0.80722	D	1	D;B;D;P;P	0.89917	1.0;0.34;1.0;0.461;0.461	D;P;D;B;B	0.87578	0.996;0.455;0.998;0.215;0.215	T	0.57225	-0.7848	10	0.35671	T	0.21	.	9.8632	0.41127	0.1688:0.0:0.8312:0.0	.	128;176;176;176;182	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	H	176;176;128	ENSP00000264932:Q176H;ENSP00000426514:Q176H;ENSP00000427703:Q128H	ENSP00000264932:Q176H	Q	+	3	2	SDHA	279069	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	6.352000	0.73027	0.732000	0.32470	0.644000	0.83932	CAG		PASS	0.483	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		7	149	7	149	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1432761	1432761	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:1432761G>A	ENST00000270349.9	-	4	598	c.471C>T	c.(469-471)aaC>aaT	p.N157N	SLC6A3_ENST00000453492.2_Silent_p.N157N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	157					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.N157N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGATGATGACGTTGTAGAAGA	0.597																																						uc003jck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(469-471)AAC>AAT		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						141.0	127.0	132.0					5																	1432761		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1432761G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.471C>T	5.37:g.1432761G>A							p.N157N	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		4	592	-			157			Helical; Name=3; (Potential).		A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.471C>T	CCDS3863.1																																																																																				PASS	0.597	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		22	46	22	46	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9154614	9154614	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:9154614G>A	ENST00000382496.5	-	12	2132	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	489					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.F489F(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTGTGCGGTAGAACTGGCACC	0.627																																						uc003jek.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1465-1467)TTC>TTT		semaphorin 5A precursor							58.0	52.0	54.0					5																	9154614		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9154614G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1467C>T	5.37:g.9154614G>A							p.F489F	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			12	2179	-			489			Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1467C>T	CCDS3875.1																																																																																				PASS	0.627	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			12	60	12	60	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35086375	35086375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:35086375G>T	ENST00000382002.5	-	4	564	c.138C>A	c.(136-138)tgC>tgA	p.C46*	PRLR_ENST00000513753.1_Nonsense_Mutation_p.C46*|PRLR_ENST00000348262.3_Nonsense_Mutation_p.C46*|PRLR_ENST00000542609.1_Nonsense_Mutation_p.C46*|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Nonsense_Mutation_p.C46*|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000231423.3_Nonsense_Mutation_p.C46*	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	46	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.C46*(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GCCTCCACCAGCAGGTGAATG	0.458																																						uc003jjm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(136-138)TGC>TGA		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						109.0	101.0	104.0					5																	35086375		2203	4300	6503	SO:0001587	stop_gained	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35086375G>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.138C>A	5.37:g.35086375G>T	ENSP00000371432:p.Cys46*					PRLR_uc003jjg.1_Nonsense_Mutation_p.C46*|PRLR_uc003jjh.1_Nonsense_Mutation_p.C46*|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Nonsense_Mutation_p.C46*|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_Translation_Start_Site	p.C46*	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		4	668	-	all_lung(31;3.83e-05)		46			Fibronectin type-III 1.|Extracellular (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Nonsense_Mutation	SNP	ENST00000382002.5	37	c.138C>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732295	0.89482	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206;ENST00000509839;ENST00000503330;ENST00000504500	.	.	.	5.75	4.89	0.63831	.	0.040128	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.341	10.638	0.45575	0.1556:0.0:0.8444:0.0	.	.	.	.	X	46	.	ENSP00000231423:C46X	C	-	3	2	PRLR	35122132	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.767000	0.55288	1.439000	0.47511	0.561000	0.74099	TGC		PASS	0.458	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			49	60	49	60	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256881	63256881	+	Silent	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:63256881C>G	ENST00000323865.3	-	1	899	c.666G>C	c.(664-666)gcG>gcC	p.A222A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	222					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.A222A(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGCGGAAGCGCGCAGCTCGGA	0.562																																						uc011cqt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(664-666)GCG>GCC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						78.0	87.0	84.0					5																	63256881		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256881C>G	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.666G>C	5.37:g.63256881C>G							p.A222A	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	666	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	222			Cytoplasmic (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.666G>C	CCDS34168.1																																																																																				PASS	0.562	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		33	51	33	51	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70840961	70840961	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:70840961A>T	ENST00000358731.4	+	32	6922	c.6659A>T	c.(6658-6660)gAt>gTt	p.D2220V	BDP1_ENST00000380675.2_Missense_Mutation_p.D356V	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2220					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D2220V(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTTGGTTTGGATAGGGGTCTT	0.463																																						uc003kbp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(6658-6660)GAT>GTT		transcription factor-like nuclear regulator							115.0	109.0	111.0					5																	70840961		1845	4098	5943	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70840961A>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6659A>T	5.37:g.70840961A>T	ENSP00000351575:p.Asp2220Val					BDP1_uc003kbo.2_Missense_Mutation_p.D2220V|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	p.D2220V	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	32	6922	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2220					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.6659A>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	9.541	1.113418	0.20795	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.45276	3.83;0.9	4.11	-8.22	0.01037	.	1.627000	0.03383	N	0.200682	T	0.32224	0.0822	L	0.44542	1.39	0.09310	N	1	P;P	0.38020	0.615;0.615	B;B	0.37091	0.124;0.241	T	0.44406	-0.9330	10	0.62326	D	0.03	.	7.8518	0.29459	0.5454:0.3054:0.1492:0.0	.	2220;2220	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	V	2220;1768;356;356	ENSP00000351575:D2220V;ENSP00000370050:D356V	ENSP00000351575:D2220V	D	+	2	0	BDP1	70876717	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.446000	0.06837	-2.571000	0.00468	-0.899000	0.02877	GAT		PASS	0.463	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		18	60	18	60	---	---	---	---
CAMK4	814	broad.mit.edu	37	5	110809012	110809012	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:110809012C>A	ENST00000282356.4	+	8	1027	c.629C>A	c.(628-630)cCt>cAt	p.P210H	CAMK4_ENST00000512453.1_Missense_Mutation_p.P210H	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.P210H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TCTGCAGCACCTGAAATTCTT	0.318																																						uc011cvj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(628-630)CCT>CAT		calcium/calmodulin-dependent protein kinase IV							135.0	140.0	139.0					5																	110809012		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110809012C>A	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.629C>A	5.37:g.110809012C>A	ENSP00000282356:p.Pro210His					CAMK4_uc003kpf.2_Missense_Mutation_p.P210H|CAMK4_uc010jbv.2_Missense_Mutation_p.P13H	p.P210H	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	9	728	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	210			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.629C>A	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066599	0.93898	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	D;D	0.85702	-2.02;-2.02	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	H	0.99877	4.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98218	1.0476	10	0.87932	D	0	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	210	Q16566	KCC4_HUMAN	H	210	ENSP00000422634:P210H;ENSP00000282356:P210H	ENSP00000282356:P210H	P	+	2	0	CAMK4	110836911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.201000	0.77847	2.780000	0.95670	0.655000	0.94253	CCT		PASS	0.318	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		5	69	5	69	---	---	---	---
APC	324	broad.mit.edu	37	5	112173893	112173893	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:112173893G>C	ENST00000457016.1	+	16	2982	c.2602G>C	c.(2602-2604)Gaa>Caa	p.E868Q	APC_ENST00000257430.4_Missense_Mutation_p.E868Q|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E868Q			P25054	APC_HUMAN	adenomatous polyposis coli	868	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E868*(1)|p.?(1)|p.E868Q(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCCAGCAACAGAAAATCCAGG	0.453		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		3	Substitution - Nonsense(1)|Unknown(1)|Substitution - Missense(1)	p.E868*(1)|p.?(1)	large_intestine(1)|lung(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	GRCh37	CD033949	APC	D		c.(2602-2604)GAA>CAA		adenomatous polyposis coli							70.0	72.0	72.0					5																	112173893		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112173893G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2602G>C	5.37:g.112173893G>C	ENSP00000413133:p.Glu868Gln	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.E850Q|APC_uc003kpz.3_Missense_Mutation_p.E868Q|APC_uc003kpy.3_Missense_Mutation_p.E868Q|APC_uc010jbz.2_Missense_Mutation_p.E585Q|APC_uc010jca.2_Missense_Mutation_p.E168Q	p.E868Q	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	2982	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	868			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.2602G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654496	0.47467	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.94280	-2.64;-3.39;-2.64;-2.64;-2.82	5.92	5.92	0.95590	.	0.192650	0.53938	D	0.000047	D	0.91643	0.7359	L	0.47716	1.5	0.58432	D	0.999997	B;B	0.32245	0.242;0.361	B;B	0.31686	0.134;0.092	D	0.89710	0.3911	10	0.54805	T	0.06	-25.0318	20.3167	0.98654	0.0:0.0:1.0:0.0	.	870;868	Q4LE70;P25054	.;APC_HUMAN	Q	868;850;868;868;868	ENSP00000413133:E868Q;ENSP00000423224:E850Q;ENSP00000257430:E868Q;ENSP00000427089:E868Q;ENSP00000423828:E868Q	ENSP00000257430:E868Q	E	+	1	0	APC	112201792	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.855000	0.92236	2.809000	0.96659	0.557000	0.71058	GAA		PASS	0.453	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		25	23	25	23	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118484909	118484909	+	Silent	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:118484909A>G	ENST00000311085.8	+	18	3467	c.3387A>G	c.(3385-3387)aaA>aaG	p.K1129K	DMXL1_ENST00000539542.1_Silent_p.K1129K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1129								p.K1129K(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATCTAGTAAAGAGAATATCA	0.333																																						uc003ksd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(3385-3387)AAA>AAG		Dmx-like 1							92.0	98.0	96.0					5																	118484909		2202	4299	6501	SO:0001819	synonymous_variant	1657							g.chr5:118484909A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3387A>G	5.37:g.118484909A>G						DMXL1_uc010jcl.1_Silent_p.K1129K	p.K1129K	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	3568	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1129						Silent	SNP	ENST00000311085.8	37	c.3387A>G	CCDS4125.1																																																																																				PASS	0.333	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		10	53	10	53	---	---	---	---
TCF7	6932	broad.mit.edu	37	5	133478442	133478442	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:133478442G>T	ENST00000321584.4	+	7	982	c.786G>T	c.(784-786)aaG>aaT	p.K262N	TCF7_ENST00000378560.4_Missense_Mutation_p.K147N|TCF7_ENST00000321603.6_Missense_Mutation_p.K262N|TCF7_ENST00000518915.1_Missense_Mutation_p.K147N|TCF7_ENST00000395023.1_Missense_Mutation_p.K147N|TCF7_ENST00000395029.1_Missense_Mutation_p.K262N|TCF7_ENST00000432532.2_Missense_Mutation_p.K147N|TCF7_ENST00000520958.1_Missense_Mutation_p.K147N|TCF7_ENST00000378564.1_Missense_Mutation_p.K262N|TCF7_ENST00000342854.5_Missense_Mutation_p.K262N			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	262					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K262N(2)|p.K147N(1)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCAGAGAAGGAGGCCAAGA	0.532																																						uc003kyt.2																			3	Substitution - Missense(3)		lung(3)		0						c.(784-786)AAG>AAT		transcription factor 7 (T-cell specific,							113.0	103.0	106.0					5																	133478442		2203	4300	6503	SO:0001583	missense	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133478442G>T	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.786G>T	5.37:g.133478442G>T	ENSP00000326540:p.Lys262Asn					TCF7_uc003kyu.1_Missense_Mutation_p.K147N|TCF7_uc003kyv.2_Missense_Mutation_p.K147N|TCF7_uc003kyw.2_Missense_Mutation_p.K147N|TCF7_uc003kyx.2_Missense_Mutation_p.K60N|TCF7_uc003kyy.2_Missense_Mutation_p.K147N|TCF7_uc003kyz.2_Missense_Mutation_p.K147N|TCF7_uc003kza.2_Missense_Mutation_p.K147N|TCF7_uc003kzb.2_Missense_Mutation_p.K76N|TCF7_uc010jdu.2_5'Flank	p.K262N	NM_003202	NP_003193	P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	982	+		Breast(839;0.058)	262					B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	37	c.786G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.76|17.76	3.469863|3.469863	0.63625|0.63625	.|.	.|.	ENSG00000081059|ENSG00000081059	ENST00000517855|ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000521639;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000519037;ENST00000517799	.|D;D;D;D;D;D;D;D;D;D;T;D	.|0.99311	.|-5.69;-5.7;-5.7;-5.73;-5.68;-5.7;-5.71;-5.69;-5.7;-5.69;0.87;-5.73	5.82|5.82	1.59|1.59	0.23543|0.23543	.|.	.|0.046597	.|0.85682	.|D	.|0.000000	.|D	.|0.98510	.|0.9503	L|L	0.45581|0.45581	1.43|1.43	0.58432|0.58432	D|D	0.999999|0.999999	.|P;D;D;B;D;D	.|0.60575	.|0.919;0.969;0.967;0.421;0.979;0.988	.|P;P;P;B;P;P	.|0.58721	.|0.477;0.725;0.535;0.108;0.702;0.844	.|D	.|0.97192	.|0.9858	.|10	.|0.45353	.|T	.|0.12	.|.	10.7036|10.7036	0.45942|0.45942	0.3487:0.0:0.6513:0.0|0.3487:0.0:0.6513:0.0	.|.	.|76;262;262;60;262;262	.|B3KSI6;P36402-9;B7WNT5;B3KQ75;P36402;P36402-5	.|.;.;.;.;TCF7_HUMAN;.	X|N	51|262;262;262;262;262;262;147;147;147;147;147;147;122;40	.|ENSP00000340347:K262N;ENSP00000326654:K262N;ENSP00000326540:K262N;ENSP00000367827:K262N;ENSP00000378472:K262N;ENSP00000367822:K147N;ENSP00000397946:K147N;ENSP00000429547:K147N;ENSP00000430179:K147N;ENSP00000378469:K147N;ENSP00000429696:K122N;ENSP00000427968:K40N	.|ENSP00000326540:K262N	G|K	+|+	1|3	0|2	TCF7|TCF7	133506341|133506341	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.548000|1.548000	0.36201|0.36201	0.397000|0.397000	0.25310|0.25310	-0.137000|-0.137000	0.14449|0.14449	GGA|AAG		PASS	0.532	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		5	67	5	67	---	---	---	---
CATSPER3	347732	broad.mit.edu	37	5	134305628	134305628	+	Splice_Site	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:134305628G>T	ENST00000282611.6	+	2	184		c.e2-1		CATSPER3_ENST00000511235.1_Splice_Site	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3						calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTTTGACAGGAGGAACGAT	0.393																																						uc003lag.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e2-1		cation channel, sperm associated 3							149.0	140.0	143.0					5																	134305628		2203	4300	6503	SO:0001630	splice_region_variant	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134305628G>T	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.99-1G>T	5.37:g.134305628G>T							p.K33_splice	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	167	+								Q86XS6	Splice_Site	SNP	ENST00000282611.6	37	c.99_splice	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920395	0.33908	.	.	ENSG00000152705	ENST00000282611	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8675	0.86033	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CATSPER3	134333527	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	4.953000	0.63624	2.804000	0.96469	0.650000	0.86243	.		PASS	0.393	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019	Intron	5	71	5	71	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137762958	137762958	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:137762958C>G	ENST00000314358.5	+	19	4783	c.4583C>G	c.(4582-4584)cCt>cGt	p.P1528R	KDM3B_ENST00000542866.1_Missense_Mutation_p.P560R|KDM3B_ENST00000394866.1_Missense_Mutation_p.P1184R	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1528	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.P1528R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCTAGGCTACCTAGCTACTTT	0.463																																						uc003lcy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(4582-4584)CCT>CGT		jumonji domain containing 1B							99.0	96.0	97.0					5																	137762958		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137762958C>G	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4583C>G	5.37:g.137762958C>G	ENSP00000326563:p.Pro1528Arg					KDM3B_uc010jew.1_Missense_Mutation_p.P1184R|KDM3B_uc011cys.1_Missense_Mutation_p.P560R	p.P1528R	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			19	4783	+			1528			JmjC.		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.4583C>G	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795785	0.90453	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	D;D;D	0.86694	-2.16;-2.16;-2.16	5.34	5.34	0.76211	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.95639	0.8582	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.96686	0.9507	10	0.87932	D	0	-7.325	19.036	0.92978	0.0:1.0:0.0:0.0	.	1184;1528	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	R	1528;1318;1184;560	ENSP00000326563:P1528R;ENSP00000378335:P1184R;ENSP00000439462:P560R	ENSP00000326563:P1528R	P	+	2	0	KDM3B	137790857	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.496000	0.84212	0.561000	0.74099	CCT		PASS	0.463	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		24	41	24	41	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531962	140531962	+	Silent	SNP	G	G	C	rs375622168		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:140531962G>C	ENST00000231136.1	+	1	2124	c.2124G>C	c.(2122-2124)gcG>gcC	p.A708A	PCDHB6_ENST00000543635.1_Silent_p.A572A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	708					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A708A(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.682																																						uc003lir.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2122-2124)GCG>GCC		protocadherin beta 6 precursor							78.0	91.0	87.0					5																	140531962		2197	4274	6471	SO:0001819	synonymous_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531962G>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2124G>C	5.37:g.140531962G>C						PCDHB6_uc011dah.1_Silent_p.A572A	p.A708A	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2124	+			708			Helical; (Potential).		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.2124G>C	CCDS4248.1																																																																																				PASS	0.682	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		16	57	16	57	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140744848	140744848	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:140744848G>T	ENST00000518069.1	+	1	951	c.951G>T	c.(949-951)atG>atT	p.M317I	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M317I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTACCTCATGGAAGTGGTAG	0.478																																						uc003lju.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(949-951)ATG>ATT		protocadherin gamma subfamily A, 5 isoform 1							56.0	57.0	57.0					5																	140744848		2001	4172	6173	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140744848G>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.951G>T	5.37:g.140744848G>T	ENSP00000429834:p.Met317Ile					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.M317I	p.M317I	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	951	+			317			Cadherin 3.|Extracellular (Potential).		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.951G>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	0.111	-1.138463	0.01742	.	.	ENSG00000253485	ENST00000518069	T	0.44083	0.93	5.52	1.54	0.23209	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.16300	0.0392	N	0.04116	-0.275	0.23920	N	0.996466	B;B	0.09022	0.002;0.001	B;B	0.15484	0.008;0.013	T	0.30909	-0.9962	9	0.06891	T	0.86	.	6.0647	0.19856	0.3209:0.0:0.551:0.1281	.	317;317	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	I	317	ENSP00000429834:M317I	ENSP00000429834:M317I	M	+	3	0	PCDHGA5	140725032	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.575000	0.05861	0.343000	0.23821	0.563000	0.77884	ATG		PASS	0.478	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		10	18	10	18	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140756055	140756056	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:140756055_140756056GA>TT	ENST00000517434.1	+	1	2405_2406	c.2405_2406GA>TT	c.(2404-2406)gGA>gTT	p.G802V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	802					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G802V(2)|p.G802G(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACGAAAGGAGAACCCAGGC	0.48																																						uc003ljy.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	breast(1)	1						c.(2404-2406)GGA>GTA|c.(2404-2406)GGA>GGT		protocadherin gamma subfamily A, 6 isoform 1																																				SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140756055G>T|g.chr5:140756056A>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		Exception_encountered	5.37:g.140756055_140756056delinsTT	ENSP00000429601:p.Gly802Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.G802V|PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.G802G	p.G802V|p.G802G	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2405|2406	+			802			Cytoplasmic (Potential).		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation|Silent	SNP	ENST00000517434.1	37	c.2405G>T|c.2406A>T	CCDS54926.1																																																																																				PASS	0.480	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		21	38	21	38	---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140769650	140769650	+	Silent	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:140769650C>T	ENST00000519479.1	+	1	2199	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	733					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S733S(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTTAAATCCGAATCCGTGG	0.527																																						uc003lkc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2197-2199)TCC>TCT		protocadherin gamma subfamily B, 4 isoform 1							179.0	193.0	189.0					5																	140769650		1976	4152	6128	SO:0001819	synonymous_variant	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769650C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2199C>T	5.37:g.140769650C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.S733S	p.S733S	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2199	+			733			Cytoplasmic (Potential).		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.2199C>T	CCDS54928.1																																																																																				PASS	0.527	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		45	114	45	114	---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140794536	140794536	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:140794536G>A	ENST00000398610.2	+	1	1794	c.1794G>A	c.(1792-1794)gtG>gtA	p.V598V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V598V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGCGGTGGACAGAGACT	0.697																																						uc003lkl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1792-1794)GTG>GTA		protocadherin gamma subfamily A, 10 isoform 1							55.0	66.0	62.0					5																	140794536		2201	4293	6494	SO:0001819	synonymous_variant	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140794536G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1794G>A	5.37:g.140794536G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.V598V|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.V598V	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1794	+			598			Cadherin 6.|Extracellular (Potential).		Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.1794G>A	CCDS47292.1																																																																																				PASS	0.697	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		13	60	13	60	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156533930	156533930	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr5:156533930G>A	ENST00000307851.4	-	2	832	c.102C>T	c.(100-102)gcC>gcT	p.A34A	HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.A34A	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	34	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A34A(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGGCAGATAGGCATTCTGAC	0.572																																						uc003lwk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(100-102)GCC>GCT		T cell immunoglobulin mucin 3 precursor							87.0	84.0	85.0					5																	156533930		2203	4300	6503	SO:0001819	synonymous_variant	84868					integral to membrane		g.chr5:156533930G>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.102C>T	5.37:g.156533930G>A						HAVCR2_uc003lwl.2_Silent_p.A34A	p.A34A	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	246	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	34			Ig-like V-type.|Extracellular (Potential).		B2RAY2|Q8WW60|Q96K94	Silent	SNP	ENST00000307851.4	37	c.102C>T	CCDS4333.1																																																																																				PASS	0.572	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			17	68	17	68	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17781053	17781053	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr6:17781053G>T	ENST00000259711.6	-	31	3859	c.3754C>A	c.(3754-3756)Cta>Ata	p.L1252I	KIF13A_ENST00000378814.5_Missense_Mutation_p.L1239I|KIF13A_ENST00000378826.2_Missense_Mutation_p.L1252I|KIF13A_ENST00000378816.5_Missense_Mutation_p.L1252I|KIF13A_ENST00000378843.2_Missense_Mutation_p.L1239I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1252					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1252I(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTCACAATTAGGTAAATCCTT	0.428																																						uc003ncg.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(3754-3756)CTA>ATA		kinesin family member 13A isoform a							134.0	132.0	133.0					6																	17781053		1948	4157	6105	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17781053G>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3754C>A	6.37:g.17781053G>T	ENSP00000259711:p.Leu1252Ile					KIF13A_uc003ncf.2_Missense_Mutation_p.L1239I|KIF13A_uc003nch.3_Missense_Mutation_p.L1252I|KIF13A_uc003nci.3_Missense_Mutation_p.L1239I|KIF13A_uc003nce.1_5'Flank	p.L1252I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		31	3859	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1252					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.3754C>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066094	0.76187	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	T;T;T;T;T;T	0.73469	-0.73;1.58;-0.75;-0.72;-0.73;-0.72	5.88	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	M	0.64567	1.98	0.47621	D	0.999476	D;D;D;P	0.59357	0.985;0.957;0.975;0.907	P;P;P;P	0.61722	0.828;0.514;0.893;0.514	T	0.78316	-0.2251	10	0.72032	D	0.01	.	9.6433	0.39853	0.2431:0.0:0.7569:0.0	.	1239;1252;1252;1239	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	I	1239;256;1252;1252;1239;1252;250	ENSP00000368091:L1239I;ENSP00000425616:L256I;ENSP00000259711:L1252I;ENSP00000368103:L1252I;ENSP00000368120:L1239I;ENSP00000368093:L1252I	ENSP00000259711:L1252I	L	-	1	2	KIF13A	17889032	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	3.293000	0.51779	1.502000	0.48669	0.561000	0.74099	CTA		PASS	0.428	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			6	82	6	82	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17817326	17817326	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr6:17817326T>G	ENST00000259711.6	-	17	2030	c.1925A>C	c.(1924-1926)cAg>cCg	p.Q642P	KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000378814.5_Missense_Mutation_p.Q642P|KIF13A_ENST00000378826.2_Missense_Mutation_p.Q642P|KIF13A_ENST00000378816.5_Missense_Mutation_p.Q642P|KIF13A_ENST00000378843.2_Missense_Mutation_p.Q642P	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	642					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q642P(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCCGCTACTCTGTGGCTGCCT	0.622																																						uc003ncg.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(1924-1926)CAG>CCG		kinesin family member 13A isoform a							34.0	40.0	38.0					6																	17817326		2070	4205	6275	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17817326T>G	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1925A>C	6.37:g.17817326T>G	ENSP00000259711:p.Gln642Pro					KIF13A_uc003ncf.2_Missense_Mutation_p.Q642P|KIF13A_uc003nch.3_Missense_Mutation_p.Q642P|KIF13A_uc003nci.3_Missense_Mutation_p.Q642P|KIF13A_uc003ncj.2_Missense_Mutation_p.Q318P	p.Q642P	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		17	2030	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	642			Potential.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.1925A>C	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	T	4.129	0.022295	0.08006	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.87	-3.24	0.05094	.	0.483477	0.23243	N	0.050325	T	0.30166	0.0756	N	0.10916	0.065	0.27424	N	0.954191	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.01578	-1.1320	10	0.34782	T	0.22	.	19.2876	0.94085	0.0:0.0:0.5432:0.4568	.	613;642;642;642;642	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	P	642	ENSP00000368091:Q642P;ENSP00000259711:Q642P;ENSP00000368103:Q642P;ENSP00000368120:Q642P;ENSP00000368093:Q642P	ENSP00000259711:Q642P	Q	-	2	0	KIF13A	17925305	0.995000	0.38212	0.013000	0.15412	0.166000	0.22503	0.673000	0.25203	-1.242000	0.02523	-1.255000	0.01485	CAG		PASS	0.622	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			6	10	6	10	---	---	---	---
CDKAL1	54901	broad.mit.edu	37	6	20955674	20955674	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr6:20955674C>G	ENST00000378610.1	+	8	777	c.767C>G	c.(766-768)aCc>aGc	p.T256S	CDKAL1_ENST00000378624.4_Missense_Mutation_p.T186S|CDKAL1_ENST00000274695.4_Missense_Mutation_p.T256S			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	256					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.T256S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ATATGGTTGACCAGTGAAGAC	0.458																																						uc003ndc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(766-768)ACC>AGC		CDK5 regulatory subunit associated protein							127.0	124.0	125.0					6																	20955674		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20955674C>G	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.767C>G	6.37:g.20955674C>G	ENSP00000367873:p.Thr256Ser					CDKAL1_uc003ndd.1_Missense_Mutation_p.T256S|CDKAL1_uc003nde.1_Missense_Mutation_p.T186S	p.T256S	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		10	941	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		256					A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.767C>G	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046752	0.75846	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.80566	-1.39;-1.39;-1.39	5.32	5.32	0.75619	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	L	0.28192	0.835	0.58432	D	0.99999	D;P	0.71674	0.998;0.938	D;P	0.79108	0.992;0.823	T	0.73512	-0.3959	10	0.12430	T	0.62	.	18.9959	0.92812	0.0:1.0:0.0:0.0	.	186;256	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	S	256;186;256	ENSP00000274695:T256S;ENSP00000367889:T186S;ENSP00000367873:T256S	ENSP00000274695:T256S	T	+	2	0	CDKAL1	21063653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.270000	0.78493	2.472000	0.83506	0.650000	0.86243	ACC		PASS	0.458	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		42	25	42	25	---	---	---	---
GPLD1	2822	broad.mit.edu	37	6	24476472	24476472	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr6:24476472C>A	ENST00000230036.1	-	4	377	c.267G>T	c.(265-267)tgG>tgT	p.W89C	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	89					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.W89C(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GAAACGGAGTCCAGTGAGTGC	0.433																																						uc003ned.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(265-267)TGG>TGT		glycosylphosphatidylinositol specific							64.0	59.0	61.0					6																	24476472		2203	4299	6502	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24476472C>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.267G>T	6.37:g.24476472C>A	ENSP00000230036:p.Trp89Cys					GPLD1_uc010jpr.1_5'UTR|GPLD1_uc010jps.1_Missense_Mutation_p.W89C|GPLD1_uc003nee.2_Missense_Mutation_p.W89C	p.W89C	NM_001503	NP_001494	P80108	PHLD_HUMAN			4	378	-			89					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.267G>T	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883522	0.72410	.	.	ENSG00000112293	ENST00000230036;ENST00000378243	T	0.47528	0.84	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000003	T	0.67924	0.2945	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73170	-0.4067	10	0.87932	D	0	-11.7877	16.4969	0.84247	0.0:1.0:0.0:0.0	.	89;89	P80108-2;P80108	.;PHLD_HUMAN	C	89	ENSP00000230036:W89C	ENSP00000230036:W89C	W	-	3	0	GPLD1	24584451	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.021000	0.64072	2.615000	0.88500	0.462000	0.41574	TGG		PASS	0.433	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		5	6	5	6	---	---	---	---
HIST1H2BJ	8970	broad.mit.edu	37	6	27100230	27100230	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr6:27100230G>A	ENST00000607124.1	-	1	299	c.300C>T	c.(298-300)cgC>cgT	p.R100R	HIST1H2BJ_ENST00000541790.1_Silent_p.R100R|HIST1H2BJ_ENST00000339812.2_Silent_p.R100R|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	100					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R100R(1)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GCAGCAGCAGGCGCACGGCCG	0.592																																						uc003niv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(298-300)CGC>CGT		histone cluster 1, H2bj							80.0	83.0	82.0					6																	27100230		2203	4300	6503	SO:0001819	synonymous_variant	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100230G>A	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.300C>T	6.37:g.27100230G>A						HIST1H2BJ_uc003niu.1_Intron|HIST1H2AG_uc003niw.2_5'Flank	p.R100R	NM_021058	NP_066402	P06899	H2B1J_HUMAN			1	346	-			100					B2R4J4|O60816	Silent	SNP	ENST00000607124.1	37	c.300C>T	CCDS4618.1																																																																																				PASS	0.592	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		52	35	52	35	---	---	---	---
C6orf222	389384	broad.mit.edu	37	6	36298332	36298332	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr6:36298332T>C	ENST00000437635.2	-	2	313	c.136A>G	c.(136-138)Aag>Gag	p.K46E		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	46								p.K46E(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TGAAGCGCCTTCCTGGAGGGG	0.652																																						uc003oly.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(136-138)AAG>GAG		hypothetical protein LOC389384							51.0	56.0	55.0					6																	36298332		2203	4299	6502	SO:0001583	missense	389384							g.chr6:36298332T>C		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.136A>G	6.37:g.36298332T>C	ENSP00000418983:p.Lys46Glu						p.K46E	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			2	314	-			46					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.136A>G	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.988253	0.53934	.	.	ENSG00000189325	ENST00000437635	T	0.50813	0.73	4.55	-1.35	0.09114	.	0.988403	0.08206	N	0.981557	T	0.09202	0.0227	N	0.14661	0.345	0.09310	N	1	B	0.33103	0.397	B	0.31547	0.132	T	0.21586	-1.0241	10	0.38643	T	0.18	-52.1201	2.1391	0.03770	0.1465:0.0924:0.3474:0.4137	.	46	P0C671	CF222_HUMAN	E	46	ENSP00000418983:K46E	ENSP00000418983:K46E	K	-	1	0	C6orf222	36406310	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	0.029000	0.13666	-0.292000	0.08999	0.386000	0.25728	AAG		PASS	0.652	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		37	21	37	21	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57512691	57512691	+	3'UTR	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr6:57512691G>T	ENST00000389488.2	+	0	1606				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.E507*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTACTTTAGTGAAGATTCTTA	0.393																																						uc003pdx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1519-1521)GAA>TAA		DNA primase polypeptide 2							312.0	305.0	307.0					6																	57512691		1930	4140	6070	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512691G>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1603G>T	6.37:g.57512691G>T							p.E507*	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1606	+			507					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Nonsense_Mutation	SNP	ENST00000389488.2	37	c.1519G>T																																																																																					PASS	0.393	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		39	229	39	229	---	---	---	---
FUT9	10690	broad.mit.edu	37	6	96651734	96651734	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr6:96651734A>G	ENST00000302103.5	+	3	1029	c.703A>G	c.(703-705)Ata>Gta	p.I235V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	235					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.I235V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GATTCCTACCATATCTACTTG	0.353																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(703-705)ATA>GTA		fucosyltransferase 9 (alpha (1,3)							43.0	42.0	42.0					6																	96651734		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651734A>G	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.703A>G	6.37:g.96651734A>G	ENSP00000302599:p.Ile235Val						p.I235V	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1044	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	235			Lumenal (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.703A>G	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	A	7.878	0.729591	0.15507	.	.	ENSG00000172461	ENST00000302103	T	0.26660	1.72	5.66	5.66	0.87406	.	0.043181	0.85682	D	0.000000	T	0.07369	0.0186	N	0.16066	0.365	0.54753	D	0.999984	B	0.21225	0.053	B	0.29598	0.104	T	0.16129	-1.0413	10	0.10377	T	0.69	-13.5961	15.0724	0.72049	1.0:0.0:0.0:0.0	.	235	Q9Y231	FUT9_HUMAN	V	235	ENSP00000302599:I235V	ENSP00000302599:I235V	I	+	1	0	FUT9	96758455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.164000	0.77533	2.158000	0.67659	0.482000	0.46254	ATA		PASS	0.353	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		6	26	6	26	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112452259	112452259	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr6:112452259C>T	ENST00000230538.7	-	29	4276	c.3879G>A	c.(3877-3879)atG>atA	p.M1293I	LAMA4_ENST00000389463.4_Missense_Mutation_p.M1286I|LAMA4_ENST00000424408.2_Missense_Mutation_p.M1286I|LAMA4_ENST00000522006.1_Missense_Mutation_p.M1286I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1293	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.M1286I(3)|p.M1286_D1287>IY(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCTTTACATCCATGATGACAG	0.453																																						uc003pvu.2																			4	Substitution - Missense(3)|Complex - compound substitution(1)	p.M1286I(1)	lung(3)|breast(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(3877-3879)ATG>ATA		laminin, alpha 4 isoform 1 precursor							266.0	217.0	234.0					6																	112452259		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112452259C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3879G>A	6.37:g.112452259C>T	ENSP00000230538:p.Met1293Ile					LAMA4_uc003pvv.2_Missense_Mutation_p.M1286I|LAMA4_uc003pvt.2_Missense_Mutation_p.M1286I	p.M1293I	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	29	4188	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1293			Laminin G-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.3879G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593254	0.46214	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.79	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.155040	0.64402	D	0.000019	T	0.46718	0.1407	N	0.19112	0.55	0.80722	D	1	B;B	0.13594	0.008;0.007	B;B	0.16289	0.015;0.009	T	0.53669	-0.8406	10	0.52906	T	0.07	.	5.5545	0.17109	0.0:0.7373:0.0:0.2627	.	1293;1286	Q16363;Q16363-2	LAMA4_HUMAN;.	I	1293;1286;1286;1286	ENSP00000230538:M1293I;ENSP00000429488:M1286I;ENSP00000374114:M1286I;ENSP00000416470:M1286I	ENSP00000230538:M1293I	M	-	3	0	LAMA4	112558952	1.000000	0.71417	0.989000	0.46669	0.730000	0.41778	1.351000	0.34022	2.740000	0.93945	0.563000	0.77884	ATG		PASS	0.453	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	64	17	64	---	---	---	---
VNN2	8875	broad.mit.edu	37	6	133065475	133065475	+	Silent	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr6:133065475T>C	ENST00000326499.6	-	7	1651	c.1527A>G	c.(1525-1527)ttA>ttG	p.L509L	VNN2_ENST00000525289.1_Silent_p.L288L|VNN2_ENST00000525270.1_Silent_p.L456L	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	509					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.L509L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTATGATCATTAATAATATGA	0.398																																						uc003qdt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1525-1527)TTA>TTG		vanin 2 isoform 1 precursor							107.0	111.0	110.0					6																	133065475		2203	4300	6503	SO:0001819	synonymous_variant	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133065475T>C	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1527A>G	6.37:g.133065475T>C						VNN2_uc003qds.2_Silent_p.L218L|VNN2_uc010kgb.2_Silent_p.L288L|VNN2_uc003qdv.2_Silent_p.L456L	p.L509L	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	7	1538	-			509					A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	c.1527A>G	CCDS5161.1																																																																																				PASS	0.398	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			13	94	13	94	---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8167536	8167536	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:8167536G>T	ENST00000402384.3	-	13	1563	c.1297C>A	c.(1297-1299)Caa>Aaa	p.Q433K	ICA1_ENST00000265577.7_Missense_Mutation_p.Q432K|ICA1_ENST00000401396.1_Missense_Mutation_p.Q421K|ICA1_ENST00000422063.2_Missense_Mutation_p.Q462K|ICA1_ENST00000396675.3_Missense_Mutation_p.Q433K|ICA1_ENST00000406470.2_Missense_Mutation_p.Q433K			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	433					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.Q433K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCATATTTTGGTCTAAAAGC	0.488																																						uc003srm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1297-1299)CAA>AAA		islet cell autoantigen 1							139.0	155.0	150.0					7																	8167536		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8167536G>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1297C>A	7.37:g.8167536G>T	ENSP00000385570:p.Gln433Lys					ICA1_uc010ktr.2_Missense_Mutation_p.Q462K|ICA1_uc003srl.2_Missense_Mutation_p.Q421K|ICA1_uc003srn.3_Missense_Mutation_p.Q359K|ICA1_uc003srp.3_Missense_Mutation_p.Q432K|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.Q433K|ICA1_uc003srr.2_Missense_Mutation_p.Q432K|ICA1_uc003sro.3_Missense_Mutation_p.Q433K	p.Q433K	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	13	1364	-		Ovarian(82;0.0612)	433					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.1297C>A	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	G	8.233	0.804995	0.16467	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.64	4.72	0.59763	Islet cell autoantigen Ica1, C-terminal (1);	0.114571	0.64402	D	0.000011	T	0.54062	0.1835	L	0.47716	1.5	0.44976	D	0.997992	B;B;B;B	0.22746	0.074;0.063;0.063;0.002	B;B;B;B	0.25987	0.065;0.016;0.038;0.015	T	0.47661	-0.9100	9	0.08599	T	0.76	-14.5463	16.2732	0.82630	0.0:0.0:0.8673:0.1327	.	462;432;433;421	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	K	433;433;432;433;421;462	.	ENSP00000265577:Q432K	Q	-	1	0	ICA1	8134061	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	5.153000	0.64888	2.835000	0.97688	0.591000	0.81541	CAA		PASS	0.488	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		7	157	7	157	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20682900	20682900	+	Silent	SNP	C	C	A	rs374303845		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:20682900C>A	ENST00000404938.2	+	6	1060	c.408C>A	c.(406-408)acC>acA	p.T136T		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	136	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.T136T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACGACAGACCAAGAGGATTC	0.423																																						uc010kuh.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(406-408)ACC>ACA		ATP-binding cassette, sub-family B, member 5							96.0	80.0	85.0					7																	20682900		1568	3582	5150	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20682900C>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.408C>A	7.37:g.20682900C>A							p.T136T	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN			6	645	+			320			Extracellular (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.408C>A	CCDS55090.1																																																																																				PASS	0.423	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		5	23	5	23	---	---	---	---
HIBADH	11112	broad.mit.edu	37	7	27582650	27582650	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:27582650G>T	ENST00000265395.2	-	5	760	c.554C>A	c.(553-555)gCc>gAc	p.A185D		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	185					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.A185D(1)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			CAACTCTTGGGCAGCAGCAAA	0.493																																						uc003szf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(553-555)GCC>GAC		3-hydroxyisobutyrate dehydrogenase precursor	NADH(DB00157)						99.0	85.0	90.0					7																	27582650		2203	4300	6503	SO:0001583	missense	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27582650G>T	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.554C>A	7.37:g.27582650G>T	ENSP00000265395:p.Ala185Asp					HIBADH_uc003szg.2_Missense_Mutation_p.A136D|HIBADH_uc003szh.2_Missense_Mutation_p.A84D|HIBADH_uc003szi.2_Missense_Mutation_p.A136D	p.A185D	NM_152740	NP_689953	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		5	749	-			185					Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	37	c.554C>A	CCDS5414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.558027|5.558027	0.96514|0.96514	.|.	.|.	ENSG00000106049|ENSG00000106049	ENST00000265395|ENST00000425715	T|.	0.36157|.	1.27|.	5.92|5.92	5.92|5.92	0.95590|0.95590	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);|.	0.049722|.	0.85682|.	D|.	0.000000|.	D|D	0.88633|0.88633	0.6489|0.6489	H|H	0.95884|0.95884	3.735|3.735	0.80722|0.80722	D|D	1|1	D;D|.	0.63880|.	0.993;0.993|.	D;D|.	0.74674|.	0.984;0.984|.	D|D	0.91236|0.91236	0.5018|0.5018	10|5	0.87932|.	D|.	0|.	-3.9326|-3.9326	20.3206|20.3206	0.98668|0.98668	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	185;185|.	Q546Z2;P31937|.	.;3HIDH_HUMAN|.	D|T	185|128	ENSP00000265395:A185D|.	ENSP00000265395:A185D|.	A|P	-|-	2|1	0|0	HIBADH|HIBADH	27549175|27549175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GCC|CCC		PASS	0.493	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		11	38	11	38	---	---	---	---
TBX20	57057	broad.mit.edu	37	7	35289604	35289604	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:35289604G>T	ENST00000408931.3	-	2	865	c.339C>A	c.(337-339)ttC>ttA	p.F113L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	113					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F113L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCAGCTCATGGAATTTGTCCC	0.582																																						uc011kas.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(337-339)TTC>TTA		T-box transcription factor TBX20							72.0	65.0	67.0					7																	35289604		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35289604G>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.339C>A	7.37:g.35289604G>T	ENSP00000386170:p.Phe113Leu						p.F113L	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			2	350	-			113			T-box.		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.339C>A	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983728	0.74474	.	.	ENSG00000164532	ENST00000408931	D	0.90563	-2.69	5.59	3.77	0.43336	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95999	0.8697	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.95449	0.8532	10	0.87932	D	0	.	10.2494	0.43360	0.2311:0.0:0.7689:0.0	.	113	Q9UMR3	TBX20_HUMAN	L	113	ENSP00000386170:F113L	ENSP00000386170:F113L	F	-	3	2	TBX20	35256129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.961000	0.40432	0.699000	0.31761	0.655000	0.94253	TTC		PASS	0.582	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		11	29	11	29	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39446339	39446339	+	Splice_Site	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:39446339G>T	ENST00000403058.1	+	7	1180	c.1026G>T	c.(1024-1026)caG>caT	p.Q342H	POU6F2_ENST00000559001.1_Intron|POU6F2-AS1_ENST00000433519.1_RNA|POU6F2_ENST00000518318.2_Splice_Site_p.Q342H	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	342	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q342H(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CACAAGGACAGGTGAGTGGGA	0.468																																						uc003thb.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1024-1026)CAG>CAT		POU class 6 homeobox 2 isoform 1							77.0	72.0	74.0					7																	39446339		2203	4300	6503	SO:0001630	splice_region_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39446339G>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1026+1G>T	7.37:g.39446339G>T							p.Q342H	NM_007252	NP_009183	P78424	PO6F2_HUMAN			6	1068	+			342			Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.1026G>T	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482001	0.63849	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.87966	-2.3;-2.32	6.17	6.17	0.99709	.	1.181050	0.06371	U	0.713496	D	0.94241	0.8151	M	0.65975	2.015	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.87454	0.2403	10	0.44086	T	0.13	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	342	P78424	PO6F2_HUMAN	H	342	ENSP00000384004:Q342H;ENSP00000430514:Q342H	ENSP00000384004:Q342H	Q	+	3	2	POU6F2	39412864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.467000	0.97671	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.468	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	Missense_Mutation	15	51	15	51	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47968883	47968883	+	Silent	SNP	G	G	A	rs142684649		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:47968883G>A	ENST00000289672.2	-	7	1028	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	326					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.F326F(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AACTGTCCCCGAAATCCATCA	0.512																																						uc003tny.1																			2	Substitution - coding silent(2)		lung(1)|breast(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(976-978)TTC>TTT		polycystin-1L1							165.0	164.0	164.0					7																	47968883		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47968883G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.978C>T	7.37:g.47968883G>A							p.F326F	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			7	978	-			326			Extracellular (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.978C>T	CCDS34633.1																																																																																				PASS	0.512	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		63	140	63	140	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	91974291	91974291	+	Splice_Site	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:91974291G>A	ENST00000265742.3	+	7	1372		c.e7-1			NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1								zinc ion binding (GO:0008270)	p.?(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCATCTCCAGTGTGACATTT	0.353																																						uc003ulw.2																			1	Unknown(1)		lung(1)	lung(1)	1						c.e7-1		ankyrin repeat and IBR domain containing 1							305.0	281.0	289.0					7																	91974291		1890	4105	5995	SO:0001630	splice_region_variant	54467						protein binding|zinc ion binding	g.chr7:91974291G>A	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.997-1G>A	7.37:g.91974291G>A							p.C333_splice	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		7	1373	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)							Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Splice_Site	SNP	ENST00000265742.3	37	c.997_splice	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421488	0.83559	.	.	ENSG00000001629	ENST00000265742	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5308	0.87814	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKIB1	91812227	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.444000	0.97578	2.576000	0.86940	0.467000	0.42956	.		PASS	0.353	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1		Intron	52	153	52	153	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100675507	100675507	+	Silent	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:100675507T>A	ENST00000306151.4	+	3	874	c.810T>A	c.(808-810)ccT>ccA	p.P270P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	270	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P270P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCAGCTCCTAGTGGAGGAA	0.507																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(808-810)CCT>CCA		mucin 17 precursor							145.0	144.0	145.0					7																	100675507		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675507T>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.810T>A	7.37:g.100675507T>A						MUC17_uc010lho.1_RNA	p.P270P	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	863	+	Lung NSC(181;0.136)|all_lung(186;0.182)		270			Extracellular (Potential).|59 X approximate tandem repeats.|2.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.810T>A	CCDS34711.1																																																																																				PASS	0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		60	123	60	123	---	---	---	---
LHFPL3	375612	broad.mit.edu	37	7	103969486	103969486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:103969486G>T	ENST00000401970.2	+	1	339	c.217G>T	c.(217-219)Gag>Tag	p.E73*	LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.E73*|LHFPL3_ENST00000535008.1_Nonsense_Mutation_p.E87*|LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.E87*			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	87						integral component of membrane (GO:0016021)		p.E87*(1)		kidney(1)|large_intestine(2)|lung(6)	9						CTTCTCCCGGGAGCTGACCTG	0.617																																						uc003vce.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(259-261)GAG>TAG		lipoma HMGIC fusion partner-like 3							45.0	52.0	50.0					7																	103969486		2024	4209	6233	SO:0001587	stop_gained	375612					integral to membrane		g.chr7:103969486G>T	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.217G>T	7.37:g.103969486G>T	ENSP00000385374:p.Glu73*					LHFPL3_uc003vcf.2_Nonsense_Mutation_p.E87*	p.E87*	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			1	383	+			73					A1L383|A4D0Q5	Nonsense_Mutation	SNP	ENST00000401970.2	37	c.259G>T		.	.	.	.	.	.	.	.	.	.	G	40	8.251791	0.98727	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	.	.	.	5.06	5.06	0.68205	.	0.309039	0.34555	N	0.003865	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-8.8163	18.4549	0.90717	0.0:0.0:1.0:0.0	.	.	.	.	X	73;87;73;87	.	ENSP00000385374:E73X	E	+	1	0	LHFPL3	103756722	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.486000	0.97944	2.339000	0.79563	0.558000	0.71614	GAG		PASS	0.617	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		4	21	4	21	---	---	---	---
RINT1	60561	broad.mit.edu	37	7	105204355	105204355	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:105204355G>T	ENST00000257700.2	+	12	2078	c.1847G>T	c.(1846-1848)aGa>aTa	p.R616I		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	616	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R616I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CACGTTTTTAGAGAAGTTAAA	0.368																																						uc003vda.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1846-1848)AGA>ATA		RAD50 interactor 1							85.0	77.0	80.0					7																	105204355		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105204355G>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1847G>T	7.37:g.105204355G>T	ENSP00000257700:p.Arg616Ile					RINT1_uc010ljj.1_Missense_Mutation_p.R191I	p.R616I	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN			12	2078	+			616			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1847G>T	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128158	0.77549	.	.	ENSG00000135249	ENST00000257700	T	0.34472	1.36	6.17	4.35	0.52113	.	0.124321	0.85682	D	0.000000	T	0.31071	0.0785	L	0.36672	1.1	0.80722	D	1	P	0.51147	0.942	P	0.46685	0.524	T	0.02603	-1.1135	10	0.20519	T	0.43	-15.2183	10.2393	0.43301	0.2602:0.0:0.7398:0.0	.	616	Q6NUQ1	RINT1_HUMAN	I	616	ENSP00000257700:R616I	ENSP00000257700:R616I	R	+	2	0	RINT1	104991591	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.956000	0.49129	0.908000	0.36671	0.655000	0.94253	AGA		PASS	0.368	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		5	43	5	43	---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107688550	107688550	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:107688550C>G	ENST00000388781.3	-	28	4212	c.4129G>C	c.(4129-4131)Gga>Cga	p.G1377R	LAMB4_ENST00000388780.3_Missense_Mutation_p.G1377R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1377R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1377	Domain alpha.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.G1377*(1)|p.G1377R(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCTGGATCTCCGCACACCTTG	0.493																																						uc010ljo.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(4129-4131)GGA>CGA		laminin, beta 4 precursor							74.0	78.0	77.0					7																	107688550		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107688550C>G	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4129G>C	7.37:g.107688550C>G	ENSP00000373433:p.Gly1377Arg					LAMB4_uc003vey.2_Missense_Mutation_p.G1377R|LAMB4_uc010ljp.1_Missense_Mutation_p.G346R	p.G1377R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			28	4213	-			1377			Domain alpha.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4129G>C	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	c	15.42	2.828913	0.50845	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.46063	0.88;0.88;0.91;0.91	4.48	2.64	0.31445	.	0.149702	0.30519	N	0.009448	T	0.50274	0.1606	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.47381	-0.9122	10	0.72032	D	0.01	.	9.4424	0.38677	0.0:0.776:0.1438:0.0801	.	1377;1377	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	R	1377;1377;403;1377	ENSP00000205386:G1377R;ENSP00000373433:G1377R;ENSP00000416562:G403R;ENSP00000373432:G1377R	ENSP00000205386:G1377R	G	-	1	0	LAMB4	107475786	0.980000	0.34600	0.009000	0.14445	0.044000	0.14063	1.337000	0.33862	0.498000	0.27948	-0.366000	0.07423	GGA		PASS	0.493	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		10	30	10	30	---	---	---	---
OR2A25	392138	broad.mit.edu	37	7	143771754	143771754	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr7:143771754T>C	ENST00000408898.2	+	1	480	c.442T>C	c.(442-444)Tgg>Cgg	p.W148R		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W148R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ATTGACTTCCTGGATTTTAGG	0.458																																						uc011ktx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)TGG>CGG		olfactory receptor, family 2, subfamily A,							150.0	152.0	152.0					7																	143771754		2186	4295	6481	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771754T>C		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.442T>C	7.37:g.143771754T>C	ENSP00000386167:p.Trp148Arg						p.W148R	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	442	+	Melanoma(164;0.0783)		148			Helical; Name=4; (Potential).		B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.442T>C	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.668477	0.29604	.	.	ENSG00000221933	ENST00000408898	T	0.59772	0.24	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.83464	0.5260	H	0.98786	4.33	0.44036	D	0.99676	D	0.89917	1.0	D	0.97110	1.0	D	0.86830	0.2010	9	0.87932	D	0	-4.6771	8.2903	0.31954	0.0:0.0:0.2009:0.7991	.	148	A4D2G3	O2A25_HUMAN	R	148	ENSP00000386167:W148R	ENSP00000386167:W148R	W	+	1	0	OR2A25	143402687	0.853000	0.29707	0.927000	0.36925	0.014000	0.08584	3.046000	0.49846	1.919000	0.55581	0.460000	0.39030	TGG		PASS	0.458	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			30	67	30	67	---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28695255	28695255	+	Silent	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr8:28695255G>T	ENST00000521022.1	-	5	381	c.300C>A	c.(298-300)ctC>ctA	p.L100L	INTS9_ENST00000521777.1_Silent_p.L76L|INTS9_ENST00000416984.2_Silent_p.L79L|INTS9_ENST00000397363.4_5'UTR	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	100					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.L100L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AGTTAGAGATGAGAATCACAT	0.468																																						uc003xha.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(298-300)CTC>CTA		integrator complex subunit 9 isoform 1							119.0	94.0	103.0					8																	28695255		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28695255G>T	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.300C>A	8.37:g.28695255G>T						INTS9_uc011lav.1_Silent_p.L76L|INTS9_uc011law.1_Silent_p.L79L|INTS9_uc011lax.1_5'UTR|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Silent_p.L100L	p.L100L	NM_018250	NP_060720	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	5	599	-		Ovarian(32;0.0439)	100					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.300C>A	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022385	0.35701	.	.	ENSG00000104299	ENST00000524081	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	T	0.74627	0.3741	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77019	-0.2743	5	0.87932	D	0	-24.5779	14.9618	0.71161	0.0:0.1826:0.8173:0.0	.	.	.	.	N	92	.	ENSP00000430083:H37N	H	-	1	0	INTS9	28751174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.466000	0.35310	2.768000	0.95171	0.655000	0.94253	CAT		PASS	0.468	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		4	35	4	35	---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37734976	37734976	+	Silent	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr8:37734976G>T	ENST00000330843.4	-	2	477	c.465C>A	c.(463-465)gcC>gcA	p.A155A	RAB11FIP1_ENST00000524118.1_Silent_p.A7A|RAB11FIP1_ENST00000287263.4_Silent_p.A155A|RAB11FIP1_ENST00000522727.1_Silent_p.A7A	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	155					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.A155A(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAAACATGCTGGCAGTCATGT	0.438																																						uc003xkm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(463-465)GCC>GCA		RAB11 family interacting protein 1 isoform 3							214.0	191.0	199.0					8																	37734976		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37734976G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.465C>A	8.37:g.37734976G>T						RAB11FIP1_uc010lvz.1_Silent_p.A3A|RAB11FIP1_uc003xkn.1_Silent_p.A155A|RAB11FIP1_uc003xkp.1_Silent_p.A3A	p.A155A	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		2	509	-		Lung NSC(58;0.118)|all_lung(54;0.195)	155					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.465C>A	CCDS34882.1																																																																																				PASS	0.438	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		8	190	8	190	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39502981	39502981	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr8:39502981A>T	ENST00000265707.5	+	11	1079	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I	ADAM18_ENST00000379866.1_Missense_Mutation_p.N321I|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	345	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N345I(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGCATCATGAATCATGAAGCA	0.308																																						uc003xni.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(1033-1035)AAT>ATT		a disintegrin and metalloprotease domain 18							111.0	98.0	102.0					8																	39502981		2202	4300	6502	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39502981A>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1034A>T	8.37:g.39502981A>T	ENSP00000265707:p.Asn345Ile					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.N321I	p.N345I	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		11	1034	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	345			Peptidase M12B.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1034A>T	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.015964	0.35606	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.10382	2.88;2.88	5.18	-8.15	0.01065	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.736966	0.11649	N	0.543006	T	0.23766	0.0575	M	0.81682	2.555	0.22354	N	0.999179	D;D	0.57257	0.974;0.979	D;D	0.69479	0.94;0.964	T	0.01436	-1.1355	10	0.51188	T	0.08	.	8.2344	0.31616	0.2202:0.4813:0.2985:0.0	.	321;345	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	I	345;321;277	ENSP00000265707:N345I;ENSP00000369195:N321I	ENSP00000265707:N345I	N	+	2	0	ADAM18	39622138	0.243000	0.23878	0.001000	0.08648	0.400000	0.30750	0.525000	0.22956	-1.199000	0.02666	-0.361000	0.07541	AAT		PASS	0.308	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		26	16	26	16	---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42608341	42608341	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr8:42608341C>G	ENST00000276410.2	-	6	1821	c.1466G>C	c.(1465-1467)gGg>gCg	p.G489A	CHRNA6_ENST00000534622.1_Missense_Mutation_p.G474A	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	489					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.G489A(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	TCCTGTGTTCCCAAGTAGTGG	0.383																																						uc003xpj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1465-1467)GGG>GCG		cholinergic receptor, nicotinic, alpha 6							109.0	118.0	115.0					8																	42608341		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42608341C>G	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1466G>C	8.37:g.42608341C>G	ENSP00000276410:p.Gly489Ala					CHRNA6_uc011lcw.1_Missense_Mutation_p.G474A	p.G489A	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		6	1512	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	489					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.1466G>C	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	c	0.036	-1.307259	0.01342	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	T;T	0.77489	-1.09;-1.1	6.02	6.02	0.97574	.	0.108661	0.64402	D	0.000006	T	0.55625	0.1932	N	0.02802	-0.49	0.37868	D	0.929961	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.56559	-0.7959	10	0.25106	T	0.35	.	13.8623	0.63569	0.0:0.8365:0.1635:0.0	.	474;489	B4DQH1;Q15825	.;ACHA6_HUMAN	A	489;474	ENSP00000276410:G489A;ENSP00000433871:G474A	ENSP00000276410:G489A	G	-	2	0	CHRNA6	42727498	0.938000	0.31826	1.000000	0.80357	0.059000	0.15707	2.050000	0.41297	2.857000	0.98124	0.650000	0.86243	GGG		PASS	0.383	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			18	188	18	188	---	---	---	---
FNTA	2339	broad.mit.edu	37	8	42924714	42924714	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr8:42924714C>G	ENST00000302279.3	+	4	612	c.418C>G	c.(418-420)Ctt>Gtt	p.L140V	FNTA_ENST00000342116.4_Missense_Mutation_p.L73V|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.L97V|FNTA_ENST00000524546.1_3'UTR|FNTA_ENST00000529687.1_5'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	140					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.L140V(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCGGAGAGTTCTTTTGAAGTC	0.388																																						uc003xps.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(418-420)CTT>GTT		farnesyltransferase, CAAX box, alpha isoform a							99.0	92.0	95.0					8																	42924714		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42924714C>G	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.418C>G	8.37:g.42924714C>G	ENSP00000303423:p.Leu140Val					FNTA_uc003xpt.2_Missense_Mutation_p.L49V|FNTA_uc003xpu.2_Missense_Mutation_p.L73V|FNTA_uc003xpv.2_RNA	p.L140V	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		4	466	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	140			PFTA 1.		A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.418C>G	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	C	1.390	-0.580909	0.03854	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000342116;ENST00000531266;ENST00000533336	.	.	.	4.76	4.76	0.60689	Protein prenyltransferase (1);	0.119337	0.56097	D	0.000025	T	0.39937	0.1097	N	0.12853	0.265	0.44908	D	0.997929	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.21708	0.005;0.004;0.036	T	0.22347	-1.0219	9	0.17832	T	0.49	-2.9022	15.3185	0.74102	0.0:1.0:0.0:0.0	.	73;49;140	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	V	97;140;73;122;78	.	ENSP00000303423:L140V	L	+	1	0	FNTA;RP11-598P20.5	43043871	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	4.799000	0.62517	2.219000	0.72066	0.163000	0.16589	CTT		PASS	0.388	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		13	92	13	92	---	---	---	---
PI15	51050	broad.mit.edu	37	8	75757649	75757649	+	Silent	SNP	C	C	T	rs200198939	byFrequency	TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr8:75757649C>T	ENST00000260113.2	+	5	737	c.558C>T	c.(556-558)tgC>tgT	p.C186C	RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Silent_p.C186C	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	186	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.C186C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GGATAGGATGCGCAATTCATA	0.428													C|||	6	0.00119808	0.0	0.0	5008	,	,		18455	0.006		0.0	False		,,,				2504	0.0					uc003yal.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(556-558)TGC>TGT		protease inhibitor 15 preproprotein							149.0	133.0	139.0					8																	75757649		2203	4300	6503	SO:0001819	synonymous_variant	51050					extracellular region	peptidase inhibitor activity	g.chr8:75757649C>T	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.558C>T	8.37:g.75757649C>T						uc003yak.1_Intron|PI15_uc003yam.2_Silent_p.C186C	p.C186C	NM_015886	NP_056970	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		5	737	+	Breast(64;0.137)		186					Q68CY1	Silent	SNP	ENST00000260113.2	37	c.558C>T	CCDS6218.1																																																																																				PASS	0.428	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		9	34	9	34	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618662	77618662	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr8:77618662G>C	ENST00000521891.2	+	2	2787	c.2339G>C	c.(2338-2340)aGg>aCg	p.R780T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R780T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R780T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R780T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R780T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATGTCGCCAGGAACCTCCGA	0.493										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2338-2340)AGG>ACG		zinc finger homeodomain 4							36.0	39.0	38.0					8																	77618662		2086	4251	6337	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618662G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2339G>C	8.37:g.77618662G>C	ENSP00000430497:p.Arg780Thr	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.R780T|ZFHX4_uc003yau.1_Missense_Mutation_p.R780T|ZFHX4_uc003yaw.1_Missense_Mutation_p.R780T	p.R780T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2726	+			780			C2H2-type 4; degenerate.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2339G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249684	0.22880	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.01	4.13	0.48395	Zinc finger, C2H2-like (1);	0.000000	0.47455	U	0.000229	T	0.66157	0.2761	M	0.83384	2.64	0.80722	D	1	P;P;P;D	0.89917	0.455;0.873;0.728;1.0	B;P;B;D	0.79108	0.149;0.544;0.286;0.992	T	0.72890	-0.4155	10	0.87932	D	0	.	13.9873	0.64343	0.0735:0.0:0.9265:0.0	.	780;780;780;780	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	T	780	ENSP00000430497:R780T;ENSP00000399605:R780T;ENSP00000050961:R780T;ENSP00000430848:R780T	ENSP00000050961:R780T	R	+	2	0	ZFHX4	77781217	1.000000	0.71417	0.926000	0.36857	0.977000	0.68977	9.601000	0.98297	1.467000	0.48044	0.585000	0.79938	AGG		PASS	0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	16	13	16	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110457075	110457075	+	Silent	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr8:110457075A>G	ENST00000378402.5	+	38	5081	c.4977A>G	c.(4975-4977)ccA>ccG	p.P1659P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1659	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P1661P(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACTTTTGCCAAACATTGACC	0.433										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4975-4977)CCA>CCG		fibrocystin L precursor							166.0	165.0	165.0					8																	110457075		1929	4128	6057	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457075A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4977A>G	8.37:g.110457075A>G		HNSCC(38;0.096)					p.P1659P	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5081	+			1659			IPT/TIG 9.|Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.4977A>G	CCDS47911.1																																																																																				PASS	0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		18	86	18	86	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139268978	139268978	+	Missense_Mutation	SNP	C	C	G	rs376116724		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr8:139268978C>G	ENST00000395297.1	-	5	492	c.322G>C	c.(322-324)Gat>Cat	p.D108H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	108								p.D108H(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTTGAAAATCTACTTCACTC	0.433										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(322-324)GAT>CAT		hypothetical protein LOC51059							113.0	105.0	108.0					8																	139268978		1948	4147	6095	SO:0001583	missense	51059							g.chr8:139268978C>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.322G>C	8.37:g.139268978C>G	ENSP00000378710:p.Asp108His	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.D9H|FAM135B_uc003yuz.2_RNA	p.D108H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		5	493	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		108					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.322G>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571795	0.86542	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.15372	2.43	5.35	5.35	0.76521	.	0.058613	0.64402	D	0.000004	T	0.34745	0.0908	L	0.60455	1.87	0.58432	D	0.999996	D	0.67145	0.996	P	0.58013	0.831	T	0.01130	-1.1442	10	0.42905	T	0.14	-6.4081	18.4074	0.90541	0.0:1.0:0.0:0.0	.	108	Q49AJ0	F135B_HUMAN	H	108	ENSP00000378710:D108H	ENSP00000160713:D108H	D	-	1	0	FAM135B	139338160	1.000000	0.71417	0.510000	0.27712	0.923000	0.55619	7.610000	0.82949	2.663000	0.90544	0.655000	0.94253	GAT		PASS	0.433	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		3	19	3	19	---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35710609	35710609	+	Silent	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr9:35710609G>T	ENST00000314888.9	-	33	4628	c.4275C>A	c.(4273-4275)gcC>gcA	p.A1425A	TLN1_ENST00000464379.1_5'Flank|TLN1_ENST00000540444.1_Silent_p.A1425A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1425	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.A1425A(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGTGGAAATGGCATCTCCAA	0.527																																						uc003zxt.2																			1	Substitution - coding silent(1)		lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(4273-4275)GCC>GCA		talin 1							74.0	70.0	72.0					9																	35710609		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35710609G>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4275C>A	9.37:g.35710609G>T							p.A1425A	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		33	4629	-	all_epithelial(49;0.167)		1425			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.4275C>A	CCDS35009.1																																																																																				PASS	0.527	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		4	24	4	24	---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35720146	35720146	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr9:35720146T>C	ENST00000314888.9	-	13	1707	c.1354A>G	c.(1354-1356)Atc>Gtc	p.I452V	TLN1_ENST00000540444.1_Missense_Mutation_p.I452V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	452					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.I452V(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAGCGCATGATGGCAGGCAGG	0.592																																						uc003zxt.2																			1	Substitution - Missense(1)		lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(1354-1356)ATC>GTC		talin 1							80.0	78.0	79.0					9																	35720146		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35720146T>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1354A>G	9.37:g.35720146T>C	ENSP00000316029:p.Ile452Val						p.I452V	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		13	1708	-	all_epithelial(49;0.167)		452					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.1354A>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	1.829	-0.470253	0.04445	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.65549	-0.16;-0.16	5.83	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	N	0.12920	0.275	0.54753	D	0.999987	B	0.02656	0.0	B	0.06405	0.002	T	0.22521	-1.0214	10	0.02654	T	1	-16.9063	8.3543	0.32321	0.0:0.0684:0.1325:0.7991	.	452	Q9Y490	TLN1_HUMAN	V	452	ENSP00000316029:I452V;ENSP00000442981:I452V	ENSP00000316029:I452V	I	-	1	0	TLN1	35710146	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.314000	0.43743	1.038000	0.40049	0.533000	0.62120	ATC		PASS	0.592	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		8	25	8	25	---	---	---	---
C9orf85	138241	broad.mit.edu	37	9	74526735	74526735	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr9:74526735A>T	ENST00000377031.3	+	1	275	c.85A>T	c.(85-87)Aaa>Taa	p.K29*	ABHD17B_ENST00000333421.6_5'Flank|C9orf85_ENST00000334731.2_Nonsense_Mutation_p.K29*|ABHD17B_ENST00000377041.2_5'Flank|C9orf85_ENST00000486911.2_Nonsense_Mutation_p.K29*			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	29	Lys-rich.							p.K29*(2)		kidney(2)|large_intestine(1)|lung(4)	7						CAAGTTCGATAAAAGTGTGCA	0.507																																						uc004ain.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(85-87)AAA>TAA		hypothetical protein LOC138241							136.0	129.0	131.0					9																	74526735		2203	4300	6503	SO:0001587	stop_gained	138241							g.chr9:74526735A>T	BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.85A>T	9.37:g.74526735A>T	ENSP00000366230:p.Lys29*					C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank	p.K29*	NM_182505	NP_872311	Q96MD7	CI085_HUMAN			1	313	+			29			Lys-rich.		Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Nonsense_Mutation	SNP	ENST00000377031.3	37	c.85A>T		.	.	.	.	.	.	.	.	.	.	A	41	8.791526	0.98956	.	.	ENSG00000155621	ENST00000334731;ENST00000377031;ENST00000356065	.	.	.	6.01	6.01	0.97437	.	0.228496	0.43919	D	0.000507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9821	12.9237	0.58247	1.0:0.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000334289:K29X	K	+	1	0	C9orf85	73716555	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.883000	0.63128	2.295000	0.77249	0.523000	0.50628	AAA		PASS	0.507	C9orf85-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052628.2	NM_182505		25	58	25	58	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79325136	79325136	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr9:79325136G>C	ENST00000376718.3	-	8	2177	c.2054C>G	c.(2053-2055)tCa>tGa	p.S685*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.S326*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	685					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.S685*(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCTTTCCATGATTCAGGGCT	0.473																																						uc010mpk.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2053-2055)TCA>TGA		prune homolog 2							48.0	45.0	46.0					9																	79325136		1568	3582	5150	SO:0001587	stop_gained	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325136G>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2054C>G	9.37:g.79325136G>C	ENSP00000365908:p.Ser685*						p.S685*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	2178	-			685					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	ENST00000376718.3	37	c.2054C>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.98|19.98	3.927877|3.927877	0.73327|0.73327	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.43579	.|D	.|0.000555	T|.	0.57710|.	0.2072|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49082|.	-0.8976|.	4|.	.|0.18276	.|T	.|0.48	-12.9937|-12.9937	13.8078|13.8078	0.63243|0.63243	0.0786:0.0:0.9214:0.0|0.0786:0.0:0.9214:0.0	.|.	.|.	.|.	.|.	M|X	6|685;326;684	.|.	.|ENSP00000365908:S685X	I|S	-|-	3|2	3|0	PRUNE2|PRUNE2	78514956|78514956	0.998000|0.998000	0.40836|0.40836	0.313000|0.313000	0.25210|0.25210	0.447000|0.447000	0.32167|0.32167	4.772000|4.772000	0.62324|0.62324	2.777000|2.777000	0.95525|0.95525	0.655000|0.655000	0.94253|0.94253	ATC|TCA		PASS	0.473	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		7	29	7	29	---	---	---	---
AGTPBP1	23287	broad.mit.edu	37	9	88200380	88200380	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr9:88200380T>A	ENST00000357081.3	-	23	3307	c.3163A>T	c.(3163-3165)Agg>Tgg	p.R1055W	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R1015W|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R1067W			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1055					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R1015W(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATAATTACCCTGTATCCCGTA	0.318																																						uc011ltd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(3163-3165)AGG>TGG		ATP/GTP binding protein 1							157.0	140.0	146.0					9																	88200380		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88200380T>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3163A>T	9.37:g.88200380T>A	ENSP00000349592:p.Arg1055Trp					AGTPBP1_uc004aod.3_Missense_Mutation_p.R681W|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.R1015W|AGTPBP1_uc011lte.1_Missense_Mutation_p.R1067W	p.R1055W	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			22	3196	-			1055					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.3163A>T		.	.	.	.	.	.	.	.	.	.	T	20.5	4.005186	0.74932	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.11385	2.78;2.78;2.78	5.42	4.24	0.50183	Peptidase M14, carboxypeptidase A (1);	0.042326	0.85682	D	0.000000	T	0.35566	0.0936	M	0.86573	2.825	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.995	D;D;P	0.70487	0.917;0.969;0.879	T	0.22347	-1.0219	10	0.72032	D	0.01	-15.6408	11.7104	0.51623	0.0:0.0:0.2798:0.7202	.	1067;1055;1015	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	W	1055;1015;1067	ENSP00000349592:R1055W;ENSP00000365251:R1015W;ENSP00000365277:R1067W	ENSP00000349592:R1055W	R	-	1	2	AGTPBP1	87390200	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.078000	0.57606	0.836000	0.34901	0.482000	0.46254	AGG		PASS	0.318	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		9	52	9	52	---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96416756	96416756	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr9:96416756G>T	ENST00000359246.4	+	7	1218	c.851G>T	c.(850-852)tGg>tTg	p.W284L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	284	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.W284L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TATGAGCGCTGGCGGTCTGCC	0.582																																						uc004aub.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)TGG>TTG		PHD finger protein 2							93.0	84.0	87.0					9																	96416756		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96416756G>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.851G>T	9.37:g.96416756G>T	ENSP00000352185:p.Trp284Leu					PHF2_uc011lug.1_Missense_Mutation_p.W167L	p.W284L	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	7	998	+		Myeloproliferative disorder(762;0.0255)	284			JmjC.		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.851G>T	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084285	0.94100	.	.	ENSG00000197724	ENST00000359246	T	0.70749	-0.51	4.79	4.79	0.61399	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91013	0.4851	10	0.87932	D	0	-7.0912	18.0327	0.89290	0.0:0.0:1.0:0.0	.	284	O75151	PHF2_HUMAN	L	284	ENSP00000352185:W284L	ENSP00000352185:W284L	W	+	2	0	PHF2	95456577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.548000	0.98103	2.480000	0.83734	0.585000	0.79938	TGG		PASS	0.582	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		5	51	5	51	---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96437969	96437969	+	Silent	SNP	C	C	T	rs566341958		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr9:96437969C>T	ENST00000359246.4	+	20	3097	c.2730C>T	c.(2728-2730)gtC>gtT	p.V910V	PHF2_ENST00000375376.4_Silent_p.V141V	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	910					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.V910V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CAGCAAGGGTCGGCCCATCGG	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17824	0.0		0.0	False		,,,				2504	0.0					uc004aub.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2728-2730)GTC>GTT		PHD finger protein 2							66.0	62.0	63.0					9																	96437969		2203	4300	6503	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96437969C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2730C>T	9.37:g.96437969C>T						PHF2_uc011lug.1_Silent_p.V793V|PHF2_uc004auc.2_Silent_p.V330V	p.V910V	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	20	2877	+		Myeloproliferative disorder(762;0.0255)	910					Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.2730C>T	CCDS35069.1																																																																																				PASS	0.657	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		11	28	11	28	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101747997	101747997	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr9:101747997C>T	ENST00000375001.3	+	3	674	c.251C>T	c.(250-252)cCa>cTa	p.P84L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	84	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.P84L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACTCTCATCCCATCCACCTTC	0.617																																						uc004azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(250-252)CCA>CTA		alpha 1 type XV collagen precursor							71.0	64.0	66.0					9																	101747997		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101747997C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.251C>T	9.37:g.101747997C>T	ENSP00000364140:p.Pro84Leu					COL15A1_uc004aza.2_Missense_Mutation_p.P84L	p.P84L	NM_001855	NP_001846	P39059	COFA1_HUMAN			3	457	+		Acute lymphoblastic leukemia(62;0.0562)	84			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.251C>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430705	0.62844	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.02863	4.13	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15132	0.0365	M	0.80508	2.5	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00018	-1.2366	10	0.87932	D	0	-4.3652	12.4425	0.55634	0.0:0.831:0.169:0.0	.	84;54	P39059;B3KTP7	COFA1_HUMAN;.	L	84;54	ENSP00000364140:P84L	ENSP00000364140:P84L	P	+	2	0	COL15A1	100787818	1.000000	0.71417	0.957000	0.39632	0.850000	0.48378	7.776000	0.85560	2.608000	0.88229	0.650000	0.86243	CCA		PASS	0.617	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		5	37	5	37	---	---	---	---
HSPA5	3309	broad.mit.edu	37	9	128001220	128001220	+	Splice_Site	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr9:128001220C>A	ENST00000324460.6	-	5	1199	c.996G>T	c.(994-996)atG>atT	p.M332I	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	332					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.M332I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	AGGAACATACCATGTTGAGCT	0.398										Prostate(1;0.17)																												uc004bpn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(994-996)ATG>ATT		heat shock 70kDa protein 5	Antihemophilic Factor(DB00025)						51.0	52.0	52.0					9																	128001220		2200	4300	6500	SO:0001630	splice_region_variant	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128001220C>A		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.996+1G>T	9.37:g.128001220C>A		Prostate(1;0.17)					p.M332I	NM_005347	NP_005338	P11021	GRP78_HUMAN			5	1252	-			332					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.996G>T	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095613	0.36952	.	.	ENSG00000044574	ENST00000324460	T	0.00966	5.49	3.11	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.01092	0.0036	L	0.35793	1.09	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.61903	-0.6967	9	.	.	.	-16.7565	13.7091	0.62656	0.0:1.0:0.0:0.0	.	332	P11021	GRP78_HUMAN	I	332	ENSP00000324173:M332I	.	M	-	3	0	HSPA5	127041041	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.738000	0.84966	1.755000	0.51935	0.563000	0.77884	ATG		PASS	0.398	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1		Missense_Mutation	5	48	5	48	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37508523	37508523	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr10:37508523A>G	ENST00000602533.1	+	34	3814	c.3715A>G	c.(3715-3717)Atg>Gtg	p.M1239V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.M1358V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M1239V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1295					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M1239V(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACAGTGTCAAATGAAGGAAGC	0.358																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(3715-3717)ATG>GTG		ankyrin repeat domain 30A							73.0	63.0	66.0					10																	37508523		1923	4125	6048	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508523A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3715A>G	10.37:g.37508523A>G	ENSP00000473551:p.Met1239Val						p.M1239V	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3814	+			1295			Potential.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3715A>G		.	.	.	.	.	.	.	.	.	.	a	0.017	-1.498893	0.01001	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.13420	2.59;2.59	2.95	-3.64	0.04515	.	.	.	.	.	T	0.09423	0.0232	L	0.46157	1.445	0.09310	N	1	B	0.22983	0.078	B	0.13407	0.009	T	0.33752	-0.9856	9	0.36615	T	0.2	.	3.6291	0.08124	0.396:0.0:0.1224:0.4815	.	1295	Q9BXX3	AN30A_HUMAN	V	1239;1358	ENSP00000354432:M1239V;ENSP00000363792:M1358V	ENSP00000354432:M1239V	M	+	1	0	ANKRD30A	37548529	0.970000	0.33590	0.000000	0.03702	0.001000	0.01503	0.341000	0.19909	-0.667000	0.05303	-0.837000	0.03062	ATG		PASS	0.358	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	17	7	17	---	---	---	---
PGBD3	267004	broad.mit.edu	37	10	50723876	50723876	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr10:50723876G>T	ENST00000374127.3	-	2	1486	c.1285C>A	c.(1285-1287)Cat>Aat	p.H429N	ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.H897N|PGBD3_ENST00000508005.2_Missense_Mutation_p.H429N|PGBD3_ENST00000603152.1_Missense_Mutation_p.H897N|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.H897N	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	429								p.H429N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						CACAGGGGATGGATACCAGCA	0.428																																						uc001jht.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(1285-1287)CAT>AAT		hypothetical protein LOC267004							122.0	112.0	116.0					10																	50723876		2203	4300	6503	SO:0001583	missense	267004							g.chr10:50723876G>T	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1285C>A	10.37:g.50723876G>T	ENSP00000363242:p.His429Asn					ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.H897N|PGBD3_uc001jhu.2_Missense_Mutation_p.H897N	p.H429N	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN			2	1540	-			429					B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1285C>A	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033435	0.19590	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	0.458	-0.916	0.10489	.	.	.	.	.	T	0.08582	0.0213	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.37291	-0.9712	8	0.21014	T	0.42	-4.9498	.	.	.	.	897;429	E7EV46;Q8N328	.;PGBD3_HUMAN	N	429;429;897;897	ENSP00000363242:H429N;ENSP00000426963:H429N;ENSP00000423550:H897N;ENSP00000387966:H897N	ENSP00000387966:H897N	H	-	1	0	PGBD3;RP11-123B3.6	50393882	0.150000	0.22732	0.904000	0.35570	0.893000	0.52053	-0.398000	0.07259	-0.504000	0.06577	-0.516000	0.04426	CAT		PASS	0.428	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			5	73	5	73	---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	54048748	54048748	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr10:54048748G>A	ENST00000401604.2	+	16	2039	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373980.4_Silent_p.K630K|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Silent_p.K333K|PRKG1_ENST00000373985.1_Silent_p.K603K			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	615	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.K630K(1)|p.K615K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACATTCAAAAGCACAAGTAAG	0.313																																						uc001jjm.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(1843-1845)AAG>AAA		protein kinase, cGMP-dependent, type I isoform							103.0	115.0	111.0					10																	54048748		2201	4295	6496	SO:0001819	synonymous_variant	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54048748G>A		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1845G>A	10.37:g.54048748G>A						PRKG1_uc001jjo.2_Silent_p.K630K|PRKG1_uc009xow.1_Silent_p.K333K|uc001jjq.1_Intron	p.K615K	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	16	2039	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	615			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	ENST00000401604.2	37	c.1845G>A	CCDS44399.1																																																																																				PASS	0.313	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				19	51	19	51	---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60546717	60546717	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr10:60546717A>T	ENST00000373886.3	+	5	426	c.422A>T	c.(421-423)cAt>cTt	p.H141L		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	141	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.H141L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GATGTTTCACATACAGAACAT	0.363																																						uc001jki.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(421-423)CAT>CTT		bicaudal C homolog 1							116.0	107.0	110.0					10																	60546717		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60546717A>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.422A>T	10.37:g.60546717A>T	ENSP00000362993:p.His141Leu						p.H141L	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			5	422	+			141			KH 1.			Missense_Mutation	SNP	ENST00000373886.3	37	c.422A>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.949382	0.92660	.	.	ENSG00000122870	ENST00000373886	T	0.28895	1.59	5.79	5.79	0.91817	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.046817	0.85682	D	0.000000	T	0.42675	0.1213	M	0.78916	2.43	0.80722	D	1	P	0.43578	0.811	B	0.43838	0.433	T	0.41538	-0.9503	10	0.45353	T	0.12	-9.1275	16.1293	0.81414	1.0:0.0:0.0:0.0	.	141	Q9H694	BICC1_HUMAN	L	141	ENSP00000362993:H141L	ENSP00000362993:H141L	H	+	2	0	BICC1	60216723	1.000000	0.71417	0.986000	0.45419	0.971000	0.66376	9.198000	0.94994	2.212000	0.71576	0.460000	0.39030	CAT		PASS	0.363	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		5	16	5	16	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61835211	61835211	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr10:61835211C>A	ENST00000280772.2	-	37	5619	c.5428G>T	c.(5428-5430)Gca>Tca	p.A1810S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1810	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A1810S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGGTAGTTGCAGATATTGAC	0.423																																						uc001jky.2																			1	Substitution - Missense(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(5428-5430)GCA>TCA		ankyrin 3 isoform 1							130.0	136.0	134.0					10																	61835211		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835211C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5428G>T	10.37:g.61835211C>A	ENSP00000280772:p.Ala1810Ser					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.A1810S	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	5620	-			1810			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.5428G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	9.496	1.101829	0.20632	.	.	ENSG00000151150	ENST00000280772	T	0.64618	-0.11	5.54	5.54	0.83059	.	0.173004	0.27442	N	0.019343	T	0.43986	0.1272	N	0.17082	0.46	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.34925	-0.9809	10	0.10902	T	0.67	.	14.4009	0.67044	0.1476:0.8524:0.0:0.0	.	1810	Q12955	ANK3_HUMAN	S	1810	ENSP00000280772:A1810S	ENSP00000280772:A1810S	A	-	1	0	ANK3	61505217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.734000	0.38166	2.643000	0.89663	0.461000	0.40582	GCA		PASS	0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		21	91	21	91	---	---	---	---
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552																																						uc001kcy.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1240-1242)GGA>GTA		leucine rich repeat containing 22 precursor							115.0	108.0	110.0					10																	85982088		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85982088C>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1241G>T	10.37:g.85982088C>A	ENSP00000361185:p.Gly414Val					LRIT2_uc010qmc.1_Missense_Mutation_p.G424V	p.G414V	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			3	1249	-			414			Fibronectin type-III.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1241G>T	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710737	0.48517	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.21031	2.03;2.03	4.88	4.88	0.63580	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.51888	-0.8648	10	0.72032	D	0.01	.	17.1624	0.86807	0.0:1.0:0.0:0.0	.	424;414	B7ZME6;A6NDA9	.;LRIT2_HUMAN	V	414;424	ENSP00000361185:G414V;ENSP00000438264:G424V	ENSP00000361185:G414V	G	-	2	0	LRIT2	85972068	1.000000	0.71417	0.026000	0.17262	0.013000	0.08279	7.064000	0.76721	2.415000	0.81967	0.557000	0.71058	GGA		PASS	0.552	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		29	29	29	29	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105779491	105779491	+	Splice_Site	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr10:105779491G>T	ENST00000369755.3	+	16	3677		c.e16-1		SLK_ENST00000335753.4_Splice_Site	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase						apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AACTTTCATAGGAAACAGAGC	0.358																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1																			1	Unknown(1)		lung(1)	ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.e16-1		serine/threonine kinase 2							85.0	92.0	89.0					10																	105779491		2203	4300	6503	SO:0001630	splice_region_variant	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105779491G>T		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3133-1G>T	10.37:g.105779491G>T						SLK_uc001kxp.1_Splice_Site_p.E1014_splice	p.E1045_splice	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	16	3167	+		Colorectal(252;0.178)						D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Splice_Site	SNP	ENST00000369755.3	37	c.3133_splice	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996001	0.74703	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9297	0.92560	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLK	105769481	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	9.648000	0.98483	2.712000	0.92718	0.484000	0.47621	.		PASS	0.358	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	Intron	5	74	5	74	---	---	---	---
AFAP1L2	84632	broad.mit.edu	37	10	116060044	116060044	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr10:116060044G>C	ENST00000304129.4	-	15	1895	c.1866C>G	c.(1864-1866)atC>atG	p.I622M	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.I675M|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.I622M			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	622					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)	p.I622M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTGGGAAGGAGATTCTCTGCT	0.597																																						uc001lbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1864-1866)ATC>ATG		KIAA1914 protein isoform 1							126.0	135.0	132.0					10																	116060044		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116060044G>C	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1866C>G	10.37:g.116060044G>C	ENSP00000303042:p.Ile622Met					AFAP1L2_uc001lbo.2_Missense_Mutation_p.I622M|AFAP1L2_uc010qse.1_Missense_Mutation_p.I675M|AFAP1L2_uc001lbp.2_Missense_Mutation_p.I650M|AFAP1L2_uc001lbr.1_Missense_Mutation_p.I621M|AFAP1L2_uc001lbm.2_Missense_Mutation_p.I61M|AFAP1L2_uc010qsd.1_Missense_Mutation_p.I188M|AFAP1L2_uc001lbq.1_Missense_Mutation_p.I144M	p.I622M	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	15	2167	-		Colorectal(252;0.175)|Breast(234;0.231)	622					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1866C>G	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340426	0.41498	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.15139	2.46;2.46;2.45	5.24	5.24	0.73138	.	0.386019	0.29225	N	0.012778	T	0.31199	0.0789	M	0.67953	2.075	0.29487	N	0.8559	P;P;P;D;P;P;P	0.54772	0.883;0.703;0.948;0.968;0.775;0.659;0.716	P;B;B;P;B;B;B	0.56612	0.6;0.336;0.316;0.802;0.428;0.406;0.23	T	0.12915	-1.0529	10	0.33940	T	0.23	-18.3782	11.1268	0.48324	0.086:0.0:0.914:0.0	.	675;188;676;144;650;622;622	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	M	622;622;649;675	ENSP00000358276:I622M;ENSP00000303042:I622M;ENSP00000444511:I675M	ENSP00000303042:I622M	I	-	3	3	AFAP1L2	116050034	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.117000	0.41939	2.443000	0.82685	0.561000	0.74099	ATC		PASS	0.597	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		25	39	25	39	---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	129237453	129237453	+	Silent	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr10:129237453C>T	ENST00000280333.6	+	49	5269	c.5160C>T	c.(5158-5160)tcC>tcT	p.S1720S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1720					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.S1720S(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCGACATTTCCCTGCAGCAGT	0.483																																						uc001ljt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(5158-5160)TCC>TCT		dedicator of cytokinesis 1							65.0	68.0	67.0					10																	129237453		1900	4114	6014	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129237453C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.5160C>T	10.37:g.129237453C>T						DOCK1_uc010qun.1_Silent_p.S1741S|DOCK1_uc009yaq.2_Silent_p.S715S	p.S1720S	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	49	5224	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1720					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.5160C>T																																																																																					PASS	0.483	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		8	12	8	12	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135027589	135027589	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr10:135027589G>T	ENST00000304613.3	+	26	4661	c.4640G>T	c.(4639-4641)tGg>tTg	p.W1547L	KNDC1_ENST00000368572.2_Missense_Mutation_p.W1549L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1547	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.W1547L(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GTCAGCACCTGGGTGGCTGCA	0.572																																						uc001llz.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(4639-4641)TGG>TTG		kinase non-catalytic C-lobe domain (KIND)							70.0	68.0	69.0					10																	135027589		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135027589G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4640G>T	10.37:g.135027589G>T	ENSP00000304437:p.Trp1547Leu						p.W1547L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	26	4641	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1547			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4640G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478978	0.63849	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.35421	1.31;1.31	4.11	4.11	0.48088	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.56702	0.2003	M	0.65498	2.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.59968	-0.7354	10	0.52906	T	0.07	-23.0627	14.1904	0.65635	0.0:0.0:1.0:0.0	.	1547	Q76NI1	VKIND_HUMAN	L	1547;1549	ENSP00000304437:W1547L;ENSP00000357561:W1549L	ENSP00000304437:W1547L	W	+	2	0	KNDC1	134877579	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	6.498000	0.73679	2.000000	0.58554	0.313000	0.20887	TGG		PASS	0.572	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		14	11	14	11	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1031985	1031985	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:1031985C>G	ENST00000421673.2	-	3	234	c.184G>C	c.(184-186)Gac>Cac	p.D62H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	62	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.D62H(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGAGAAGTCGTACACGTGG	0.632																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(184-186)GAC>CAC		mucin 6, gastric							100.0	109.0	106.0					11																	1031985		2124	4226	6350	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1031985C>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.184G>C	11.37:g.1031985C>G	ENSP00000406861:p.Asp62His						p.D62H	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	235	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	62			VWFD 1.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.184G>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	6.532	0.466449	0.12402	.	.	ENSG00000184956	ENST00000421673;ENST00000525923	T;T	0.59502	0.26;0.26	4.03	2.09	0.27110	von Willebrand factor, type D domain (3);	0.000000	0.32273	U	0.006333	T	0.59676	0.2211	L	0.42632	1.34	0.26154	N	0.9801	D	0.64830	0.994	D	0.68039	0.955	T	0.48514	-0.9029	10	0.30078	T	0.28	.	5.2955	0.15751	0.0:0.6394:0.1665:0.1941	.	62	Q6W4X9	MUC6_HUMAN	H	62;86	ENSP00000406861:D62H;ENSP00000433790:D86H	ENSP00000406861:D62H	D	-	1	0	MUC6	1021985	0.044000	0.20184	0.045000	0.18777	0.214000	0.24535	0.298000	0.19120	0.277000	0.22141	0.462000	0.41574	GAC		PASS	0.632	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		19	33	19	33	---	---	---	---
OR52K2	119774	broad.mit.edu	37	11	4471455	4471455	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:4471455G>A	ENST00000325719.4	+	1	931	c.886G>A	c.(886-888)Gtc>Atc	p.V296I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V296I(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATCTATGGTGTCAAGACCAA	0.507																																						uc001lyz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(886-888)GTC>ATC		olfactory receptor, family 52, subfamily K,							114.0	107.0	110.0					11																	4471455		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4471455G>A	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.886G>A	11.37:g.4471455G>A	ENSP00000318956:p.Val296Ile						p.V296I	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	886	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	296			Helical; Name=7; (Potential).		A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.886G>A	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.451060	0.26074	.	.	ENSG00000181963	ENST00000325719	T	0.36340	1.26	4.16	3.21	0.36854	.	0.158302	0.29459	N	0.012081	T	0.21427	0.0516	N	0.20766	0.605	0.25506	N	0.987503	B	0.09022	0.002	B	0.10450	0.005	T	0.09818	-1.0657	10	0.45353	T	0.12	.	7.8794	0.29614	0.097:0.1643:0.7387:0.0	.	296	Q8NGK3	O52K2_HUMAN	I	296	ENSP00000318956:V296I	ENSP00000318956:V296I	V	+	1	0	OR52K2	4428031	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.949000	0.03893	2.152000	0.67230	0.586000	0.80456	GTC		PASS	0.507	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		12	45	12	45	---	---	---	---
OR52J3	119679	broad.mit.edu	37	11	5068652	5068652	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:5068652G>T	ENST00000380370.1	+	1	897	c.897G>T	c.(895-897)caG>caT	p.Q299H		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q299H(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGACCAAACAGATTCGAGAAC	0.378																																						uc010qyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(895-897)CAG>CAT		olfactory receptor, family 52, subfamily J,							70.0	65.0	67.0					11																	5068652		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068652G>T	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.897G>T	11.37:g.5068652G>T	ENSP00000369728:p.Gln299His						p.Q299H	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	897	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	299			Cytoplasmic (Potential).		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.897G>T	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	G	9.609	1.130757	0.21041	.	.	ENSG00000205495	ENST00000380370	T	0.38887	1.11	4.19	2.32	0.28847	.	0.577898	0.14277	N	0.329773	T	0.53367	0.1792	M	0.85630	2.765	0.24638	N	0.993586	P	0.49961	0.93	P	0.51833	0.681	T	0.48990	-0.8985	10	0.72032	D	0.01	.	4.7603	0.13104	0.186:0.0:0.6447:0.1693	.	299	Q8NH60	O52J3_HUMAN	H	299	ENSP00000369728:Q299H	ENSP00000369728:Q299H	Q	+	3	2	OR52J3	5025228	1.000000	0.71417	0.951000	0.38953	0.006000	0.05464	0.970000	0.29383	0.413000	0.25759	0.655000	0.94253	CAG		PASS	0.378	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		20	38	20	38	---	---	---	---
WT1	7490	broad.mit.edu	37	11	32439126	32439126	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:32439126T>G	ENST00000379079.2	-	4	584	c.311A>C	c.(310-312)aAg>aCg	p.K104T	WT1_ENST00000530998.1_Missense_Mutation_p.K104T|WT1_ENST00000332351.3_Missense_Mutation_p.K316T|WT1_ENST00000448076.3_Missense_Mutation_p.K316T	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	248					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.K248T(1)|p.G249fs*11(1)|p.K104T(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ACCTTACCCCTTTAAGGTGGC	0.368			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	3	Substitution - Missense(2)|Insertion - Frameshift(1)	p.E316fs*4(1)	lung(2)|kidney(1)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(946-948)AAG>ACG		Wilms tumor 1 isoform D							119.0	108.0	111.0					11																	32439126		2202	4299	6501	SO:0001583	missense	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32439126T>G		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.311A>C	11.37:g.32439126T>G	ENSP00000368370:p.Lys104Thr					WT1_uc001mtl.1_Missense_Mutation_p.K104T|WT1_uc001mtm.1_Missense_Mutation_p.K104T|WT1_uc001mto.1_Missense_Mutation_p.K316T|WT1_uc001mtp.1_Missense_Mutation_p.K316T|WT1_uc001mtq.1_Missense_Mutation_p.K316T|WT1_uc009yjs.1_RNA	p.K316T	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		4	1143	-	Breast(20;0.247)		248					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.947A>C	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.428179|4.428179	0.83667|0.83667	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	.|D;D;D;D;D;D	.|0.89050	.|-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Wilm&apos (1);s tumour protein, N-terminal (1);	0.000000|0.000000	0.64402|0.64402	U|U	0.000001|0.000001	D|D	0.91199|0.91199	0.7227|0.7227	L|L	0.39898|0.39898	1.24|1.24	0.53688|0.53688	D|D	0.999976|0.999976	.|D;D;D;P;D	.|0.71674	.|0.998;0.99;0.997;0.94;0.994	.|P;P;P;P;P	.|0.61592	.|0.891;0.883;0.891;0.781;0.814	D|D	0.91410|0.91410	0.5150|0.5150	6|10	.|0.52906	.|T	.|0.07	.|.	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|321;248;321;104;104	.|P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.|.;WT1_HUMAN;.;.;.	N|T	6|104;316;104;316;316;67	.|ENSP00000368370:K104T;ENSP00000331327:K316T;ENSP00000435307:K104T;ENSP00000415516:K316T;ENSP00000413452:K316T;ENSP00000435351:K67T	.|ENSP00000331327:K316T	K|K	-|-	3|2	2|0	WT1|WT1	32395702|32395702	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.995000|0.995000	0.86356|0.86356	6.634000|6.634000	0.74290|0.74290	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAA|AAG		PASS	0.368	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		5	37	5	37	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49175867	49175867	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:49175867C>T	ENST00000256999.2	-	16	2061	c.1801G>A	c.(1801-1803)Gct>Act	p.A601T	FOLH1_ENST00000340334.7_Missense_Mutation_p.A586T|FOLH1_ENST00000356696.3_Missense_Mutation_p.A601T|FOLH1_ENST00000343844.4_Missense_Mutation_p.A293T|FOLH1_ENST00000533034.1_Missense_Mutation_p.A586T	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	601					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.A601T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AAAACTACAGCATAATCTCGA	0.393																																						uc001ngy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1801-1803)GCT>ACT		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						120.0	102.0	108.0					11																	49175867		2201	4297	6498	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175867C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1801G>A	11.37:g.49175867C>T	ENSP00000256999:p.Ala601Thr					FOLH1_uc001ngx.2_Missense_Mutation_p.A33T|FOLH1_uc001ngz.2_Missense_Mutation_p.A601T|FOLH1_uc009yly.2_Missense_Mutation_p.A586T|FOLH1_uc009ylz.2_Missense_Mutation_p.A586T|FOLH1_uc009yma.2_Missense_Mutation_p.A293T	p.A601T	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			16	2062	-			601			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1801G>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588472	0.86851	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	3.62	3.62	0.41486	Transferrin receptor-like, dimerisation domain (2);	0.000000	0.56097	D	0.000027	T	0.56187	0.1968	M	0.66560	2.04	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.999;0.964;0.983;1.0	D;D;P;P;D	0.91635	0.97;0.98;0.754;0.715;0.999	T	0.60596	-0.7232	10	0.62326	D	0.03	.	13.124	0.59342	0.0:1.0:0.0:0.0	.	586;586;601;601;16	Q04609-9;Q04609-7;Q04609-8;Q04609;Q04609-3	.;.;.;FOLH1_HUMAN;.	T	601;601;586;293;586	ENSP00000256999:A601T;ENSP00000349129:A601T;ENSP00000344131:A586T;ENSP00000344086:A293T;ENSP00000431463:A586T	ENSP00000256999:A601T	A	-	1	0	FOLH1	49132443	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.192000	0.65115	2.044000	0.60594	0.404000	0.27445	GCT		PASS	0.393	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		11	26	11	26	---	---	---	---
OR5M3	219482	broad.mit.edu	37	11	56237681	56237681	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:56237681T>C	ENST00000312240.2	-	1	333	c.293A>G	c.(292-294)cAg>cGg	p.Q98R		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q98R(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GAAGAAACACTGTACTAAACA	0.368																																						uc010rjk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(292-294)CAG>CGG		olfactory receptor, family 5, subfamily M,							90.0	85.0	87.0					11																	56237681		2201	4295	6496	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237681T>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.293A>G	11.37:g.56237681T>C	ENSP00000312208:p.Gln98Arg						p.Q98R	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	293	-	Esophageal squamous(21;0.00448)		98			Helical; Name=3; (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.293A>G	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662889	0.67700	.	.	ENSG00000174937	ENST00000312240	T	0.00466	7.23	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000441	T	0.03520	0.0101	H	0.99299	4.505	0.36945	D	0.892557	D	0.89917	1.0	D	0.87578	0.998	T	0.02533	-1.1145	10	0.87932	D	0	-7.4145	13.7595	0.62956	0.0:0.0:0.0:1.0	.	98	Q8NGP4	OR5M3_HUMAN	R	98	ENSP00000312208:Q98R	ENSP00000312208:Q98R	Q	-	2	0	OR5M3	55994257	1.000000	0.71417	0.857000	0.33713	0.544000	0.35116	6.022000	0.70839	1.929000	0.55896	0.391000	0.25812	CAG		PASS	0.368	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		23	53	23	53	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62288412	62288412	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:62288412C>T	ENST00000378024.4	-	5	13751	c.13477G>A	c.(13477-13479)Gta>Ata	p.V4493I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4493					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V4493L(1)|p.V4493I(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAATGTCTACCTCTGGCCCT	0.448																																						uc001ntl.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(13477-13479)GTA>ATA		AHNAK nucleoprotein isoform 1							87.0	82.0	84.0					11																	62288412		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288412C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13477G>A	11.37:g.62288412C>T	ENSP00000367263:p.Val4493Ile					AHNAK_uc001ntk.1_Intron	p.V4493I	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13777	-		Melanoma(852;0.155)	4493					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13477G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873960	0.33069	.	.	ENSG00000124942	ENST00000378024	T	0.00730	5.77	5.12	-0.906	0.10524	.	0.234685	0.21621	N	0.071646	T	0.00784	0.0026	L	0.43598	1.365	0.09310	N	0.999999	B	0.27316	0.175	B	0.30943	0.122	T	0.47275	-0.9130	10	0.26408	T	0.33	.	6.168	0.20400	0.0:0.3003:0.3932:0.3065	.	4493	Q09666	AHNK_HUMAN	I	4493	ENSP00000367263:V4493I	ENSP00000367263:V4493I	V	-	1	0	AHNAK	62044988	0.006000	0.16342	0.384000	0.26145	0.828000	0.46876	-0.516000	0.06282	-0.003000	0.14444	-0.228000	0.12330	GTA		PASS	0.448	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		25	64	25	64	---	---	---	---
CDK2AP2	10263	broad.mit.edu	37	11	67275064	67275064	+	Splice_Site	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:67275064T>A	ENST00000301488.3	-	2	727	c.179A>T	c.(178-180)cAg>cTg	p.Q60L	PITPNM1_ENST00000356404.3_5'Flank|PITPNM1_ENST00000436757.2_5'Flank|CDK2AP2_ENST00000531506.1_Splice_Site_p.Q60L	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	60								p.Q60L(1)		lung(1)	1						CCCACTCACCTGCACGTAGCC	0.622																																						uc001oma.2																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)CAG>CTG		cyclin-dependent kinase 2 associated protein 2							49.0	43.0	45.0					11																	67275064		2199	4295	6494	SO:0001630	splice_region_variant	10263							g.chr11:67275064T>A	AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"""tumor suppressor deleted in oral cancer related 1"""		"""CDK2-associated protein 2"""			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.180+1A>T	11.37:g.67275064T>A						PITPNM1_uc001oly.2_5'Flank|PITPNM1_uc001olz.2_5'Flank|CDK2AP2_uc009yry.2_RNA|CDK2AP2_uc001omb.2_Missense_Mutation_p.Q69L	p.Q60L	NM_005851	NP_005842	O75956	CDKA2_HUMAN			2	728	-			60						Missense_Mutation	SNP	ENST00000301488.3	37	c.179A>T	CCDS8169.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547960	0.65311	.	.	ENSG00000167797	ENST00000301488;ENST00000531506	.	.	.	5.3	4.14	0.48551	.	0.061993	0.64402	D	0.000002	T	0.45657	0.1353	L	0.39397	1.21	0.54753	D	0.999988	B;B	0.22541	0.071;0.006	B;B	0.22152	0.038;0.013	T	0.34875	-0.9811	9	0.39692	T	0.17	-23.7696	8.1714	0.31258	0.178:0.0:0.0:0.822	.	60;60	Q6IAV4;O75956	.;CDKA2_HUMAN	L	60	.	ENSP00000301488:Q60L	Q	-	2	0	CDK2AP2	67031640	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.497000	0.73674	0.978000	0.38470	0.459000	0.35465	CAG		PASS	0.622	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395535.1	NM_005851	Missense_Mutation	12	26	12	26	---	---	---	---
TYR	7299	broad.mit.edu	37	11	89017960	89017960	+	Nonsense_Mutation	SNP	C	C	T	rs62645917		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:89017960C>T	ENST00000263321.5	+	4	1706	c.1204C>T	c.(1204-1206)Cga>Tga	p.R402*		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	402			R -> G (in OCA1B).|R -> L (in OCA1A). {ECO:0000269|PubMed:15146472}.|R -> Q (in dbSNP:rs1126809). {ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:15146472, ECO:0000269|PubMed:2342539, ECO:0000269|PubMed:7955413, ECO:0000269|PubMed:9158138}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R402*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GCAGTGGCTCCGAAGGCACCG	0.373																																						uc001pcs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3	GRCh37	CM941348|CM942074	TYR	M		c.(1204-1206)CGA>TGA		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						58.0	59.0	58.0					11																	89017960		2201	4299	6500	SO:0001587	stop_gained	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:89017960C>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1204C>T	11.37:g.89017960C>T	ENSP00000263321:p.Arg402*						p.R402*	NM_000372	NP_000363	P14679	TYRO_HUMAN			4	1286	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	402		R -> L (in OCA1A).|R -> G (in OCA1B).	Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Nonsense_Mutation	SNP	ENST00000263321.5	37	c.1204C>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	43	10.452796	0.99408	.	.	ENSG00000077498	ENST00000263321	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1451	0.48426	0.3234:0.6766:0.0:0.0	rs62645917	.	.	.	X	402	.	.	R	+	1	2	TYR	88657608	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.172000	0.50832	2.166000	0.68216	0.555000	0.69702	CGA		PASS	0.373	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		6	11	6	11	---	---	---	---
ACAT1	38	broad.mit.edu	37	11	108004595	108004595	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:108004595G>T	ENST00000265838.4	+	3	260	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	ACAT1_ENST00000299355.6_Missense_Mutation_p.G57C	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	57					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)	p.G57C(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	ATCTTTTTTAGGCAGCCTTTC	0.418																																						uc001pjy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(169-171)GGC>TGC		acetyl-Coenzyme A acetyltransferase 1 precursor	Sulfasalazine(DB00795)						114.0	105.0	108.0					11																	108004595		2201	4298	6499	SO:0001583	missense	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108004595G>T	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.169G>T	11.37:g.108004595G>T	ENSP00000265838:p.Gly57Cys					ACAT1_uc001pjw.1_Missense_Mutation_p.G57C|ACAT1_uc001pjx.2_Translation_Start_Site	p.G57C	NM_000019	NP_000010	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	3	245	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	57					B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	c.169G>T	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375351	0.61735	.	.	ENSG00000075239	ENST00000265838;ENST00000299355	D;D	0.93859	-3.3;-3.3	5.28	3.34	0.38264	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.100568	0.64402	D	0.000002	D	0.97773	0.9269	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.974;0.999	D	0.97048	0.9762	10	0.87932	D	0	-7.752	10.2607	0.43425	0.1699:0.0:0.8301:0.0	.	57;57	P24752;G3XAB4	THIL_HUMAN;.	C	57	ENSP00000265838:G57C;ENSP00000299355:G57C	ENSP00000265838:G57C	G	+	1	0	ACAT1	107509805	1.000000	0.71417	0.989000	0.46669	0.613000	0.37349	3.929000	0.56514	0.650000	0.30769	0.462000	0.41574	GGC		PASS	0.418	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		4	29	4	29	---	---	---	---
ALG9	79796	broad.mit.edu	37	11	111706942	111706942	+	Silent	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:111706942G>T	ENST00000531154.1	-	13	1507	c.1035C>A	c.(1033-1035)acC>acA	p.T345T	ALG9_ENST00000398006.2_Silent_p.T338T|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	509					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)	p.T741T(1)|p.T742T(1)|p.T345T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GAACAATCCGGGTGGCCAGAG	0.438																																						uc001pmb.2																			3	Substitution - coding silent(3)		lung(3)	large_intestine(1)|ovary(1)	2						c.(1525-1527)ACC>ACA		asparagine-linked glycosylation 9 protein							93.0	90.0	91.0					11																	111706942		1848	4086	5934	SO:0001819	synonymous_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111706942G>T		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.1035C>A	11.37:g.111706942G>T						ALG9_uc001ply.2_Silent_p.T338T|ALG9_uc001plz.2_Silent_p.T345T|ALG9_uc010rwm.1_Silent_p.T516T|ALG9_uc010rwn.1_Silent_p.T463T|ALG9_uc010rwo.1_Silent_p.T337T	p.T509T	NM_001077690	NP_001071158	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	14	1626	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	509			Lumenal (Potential).		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Silent	SNP	ENST00000531154.1	37	c.1527C>A	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	G	8.507	0.865637	0.17250	.	.	ENSG00000086848	ENST00000532425	.	.	.	5.2	0.777	0.18538	.	.	.	.	.	T	0.44180	0.1281	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28522	-1.0041	4	.	.	.	-15.6793	3.4052	0.07338	0.0791:0.1964:0.267:0.4575	.	.	.	.	H	94	.	.	P	-	2	0	ALG9	111212152	0.597000	0.26874	1.000000	0.80357	0.955000	0.61496	-0.217000	0.09253	0.632000	0.30432	0.563000	0.77884	CCC		PASS	0.438	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		5	46	5	46	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123811094	123811094	+	Silent	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:123811094C>A	ENST00000307033.2	+	1	845	c.771C>A	c.(769-771)gtC>gtA	p.V257V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V257V(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCATCTACGTCTATACAAGGC	0.532																																						uc001pzk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(769-771)GTC>GTA		olfactory receptor, family 4, subfamily D,							204.0	155.0	172.0					11																	123811094		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811094C>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.771C>A	11.37:g.123811094C>A							p.V257V	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	771	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	257			Helical; Name=6; (Potential).		B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.771C>A	CCDS31699.1																																																																																				PASS	0.532	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		25	36	25	36	---	---	---	---
TMEM45B	120224	broad.mit.edu	37	11	129722407	129722407	+	Silent	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:129722407A>G	ENST00000524567.1	+	2	311	c.30A>G	c.(28-30)ccA>ccG	p.P10P	TMEM45B_ENST00000281441.3_Silent_p.P10P			Q96B21	TM45B_HUMAN	transmembrane protein 45B	10						integral component of membrane (GO:0016021)		p.P10P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		ACGCGCTTCCAGGGAGTTTCT	0.468																																						uc001qfe.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(28-30)CCA>CCG		transmembrane protein 45B							105.0	93.0	97.0					11																	129722407		2201	4297	6498	SO:0001819	synonymous_variant	120224					integral to membrane		g.chr11:129722407A>G	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.30A>G	11.37:g.129722407A>G						TMEM45B_uc001qff.1_Silent_p.P10P	p.P10P	NM_138788	NP_620143	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	2	91	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	10			Helical; (Potential).		A8K2L8	Silent	SNP	ENST00000524567.1	37	c.30A>G	CCDS8482.1																																																																																				PASS	0.468	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		10	26	10	26	---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130343024	130343024	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:130343024G>T	ENST00000299164.2	+	8	2161	c.2161G>T	c.(2161-2163)Ggg>Tgg	p.G721W		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	721	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G721W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGGGCTGATCGGGGATGACAA	0.622																																						uc010scd.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(2161-2163)GGG>TGG		a disintegrin-like and metalloprotease							65.0	66.0	66.0					11																	130343024		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343024G>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2161G>T	11.37:g.130343024G>T	ENSP00000299164:p.Gly721Trp						p.G721W	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2161	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	721			Spacer.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2161G>T	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730713	0.69074	.	.	ENSG00000166106	ENST00000299164	T	0.60171	0.21	5.67	4.57	0.56435	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.60958	0.2309	L	0.36672	1.1	0.39541	D	0.968823	D	0.63046	0.992	D	0.66602	0.945	T	0.62863	-0.6764	9	0.59425	D	0.04	.	6.5758	0.22564	0.2543:0.0:0.7457:0.0	.	721	Q8TE58	ATS15_HUMAN	W	721	ENSP00000299164:G721W	ENSP00000299164:G721W	G	+	1	0	ADAMTS15	129848234	0.996000	0.38824	0.997000	0.53966	0.992000	0.81027	3.419000	0.52728	2.686000	0.91538	0.561000	0.74099	GGG		PASS	0.622	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		20	16	20	16	---	---	---	---
GLB1L2	89944	broad.mit.edu	37	11	134239766	134239766	+	Missense_Mutation	SNP	C	C	A	rs149460505		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr11:134239766C>A	ENST00000535456.2	+	11	1283	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.F365L|GLB1L2_ENST00000389881.3_Missense_Mutation_p.F365L	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	365					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.F365L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GAGACTTCTTCGGCTCCATCT	0.537																																						uc001qhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1093-1095)TTC>TTA		galactosidase, beta 1-like 2 precursor							146.0	129.0	135.0					11																	134239766		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134239766C>A		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1095C>A	11.37:g.134239766C>A	ENSP00000444628:p.Phe365Leu					GLB1L2_uc009zdg.1_RNA	p.F365L	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	11	1283	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	365					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.1095C>A	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	8.513	0.867074	0.17250	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.97303	-4.33;-4.33;-4.33	5.66	-9.22	0.00675	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.111045	0.64402	D	0.000008	D	0.89979	0.6872	N	0.12443	0.215	0.32942	D	0.518549	B	0.17038	0.02	B	0.25759	0.063	T	0.66806	-0.5830	10	0.14656	T	0.56	-18.157	18.2836	0.90107	0.0:0.6786:0.0:0.3214	.	365	Q8IW92	GLBL2_HUMAN	L	365	ENSP00000344659:F365L;ENSP00000444628:F365L;ENSP00000374531:F365L	ENSP00000344659:F365L	F	+	3	2	GLB1L2	133744976	0.592000	0.26832	0.004000	0.12327	0.422000	0.31414	-0.275000	0.08525	-1.732000	0.01359	-1.119000	0.02030	TTC		PASS	0.537	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		4	53	4	53	---	---	---	---
MFAP5	8076	broad.mit.edu	37	12	8813482	8813482	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:8813482A>T	ENST00000359478.2	-	3	258	c.71T>A	c.(70-72)cTg>cAg	p.L24Q	MFAP5_ENST00000396549.2_Missense_Mutation_p.L24Q|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000433590.2_Missense_Mutation_p.L24Q|MFAP5_ENST00000540087.1_Missense_Mutation_p.L24Q|MFAP5_ENST00000535336.1_Missense_Mutation_p.L24Q|MFAP5_ENST00000538107.1_5'UTR	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	24					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)	p.L24Q(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ATTGACCCCCAGGGGTATCCA	0.428																																						uc001qut.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(70-72)CTG>CAG		microfibrillar associated protein 5 precursor							85.0	86.0	86.0					12																	8813482		2203	4300	6503	SO:0001583	missense	8076					microfibril	extracellular matrix structural constituent	g.chr12:8813482A>T	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.71T>A	12.37:g.8813482A>T	ENSP00000352455:p.Leu24Gln					MFAP5_uc001qus.2_Missense_Mutation_p.L24Q|MFAP5_uc009zge.1_Missense_Mutation_p.L24Q	p.L24Q	NM_003480	NP_003471	Q13361	MFAP5_HUMAN			3	284	-	Lung SC(5;0.184)		24					B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	c.71T>A	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.00|12.00	1.805298|1.805298	0.31961|0.31961	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000359478;ENST00000433590;ENST00000396549;ENST00000535336;ENST00000540087;ENST00000544889|ENST00000535411	.|.	.|.	.|.	4.81|4.81	3.67|3.67	0.42095|0.42095	.|.	0.501265|.	0.16681|.	N|.	0.203937|.	T|T	0.46756|0.46756	0.1409|0.1409	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	1|1	D;D;D|.	0.58620|.	0.963;0.983;0.963|.	P;P;P|.	0.60541|.	0.837;0.876;0.837|.	T|T	0.36286|0.36286	-0.9754|-0.9754	9|5	0.62326|.	D|.	0.03|.	-2.6745|-2.6745	7.1146|7.1146	0.25409|0.25409	0.8993:0.0:0.1007:0.0|0.8993:0.0:0.1007:0.0	.|.	24;24;24|.	B3KW70;Q13361;Q7Z490|.	.;MFAP5_HUMAN;.|.	Q|R	24|14	.|.	ENSP00000352455:L24Q|.	L|W	-|-	2|1	0|0	MFAP5|MFAP5	8704749|8704749	0.002000|0.002000	0.14202|0.14202	0.006000|0.006000	0.13384|0.13384	0.035000|0.035000	0.12851|0.12851	1.216000|1.216000	0.32443|0.32443	0.979000|0.979000	0.38497|0.38497	0.533000|0.533000	0.62120|0.62120	CTG|TGG		PASS	0.428	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		10	61	10	61	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9305507	9305507	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:9305507G>T	ENST00000261336.2	-	31	4062	c.4034C>A	c.(4033-4035)tCc>tAc	p.S1345Y	PZP_ENST00000381997.2_Missense_Mutation_p.S1131Y	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1345					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S1131Y(1)|p.S1345Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGCAAATGGGGAGTCCTCTTT	0.443																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(4033-4035)TCC>TAC		pregnancy-zone protein precursor							124.0	119.0	120.0					12																	9305507		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9305507G>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4034C>A	12.37:g.9305507G>T	ENSP00000261336:p.Ser1345Tyr					PZP_uc009zgl.2_Missense_Mutation_p.S1131Y	p.S1345Y	NM_002864	NP_002855					31	4063	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.4034C>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.623490	0.00820	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.35789	1.46;1.29	3.93	-3.29	0.05017	Alpha-macroglobulin, receptor-binding (1);	0.228539	0.25839	U	0.027967	T	0.18923	0.0454	L	0.48642	1.525	0.09310	N	1	B;B	0.14438	0.009;0.01	B;B	0.18561	0.007;0.022	T	0.41875	-0.9484	10	0.02654	T	1	.	4.2779	0.10818	0.2958:0.0:0.4602:0.244	.	1131;1345	P20742-2;P20742	.;PZP_HUMAN	Y	1345;1131	ENSP00000261336:S1345Y;ENSP00000371427:S1131Y	ENSP00000261336:S1345Y	S	-	2	0	PZP	9196774	0.001000	0.12720	0.000000	0.03702	0.051000	0.14879	0.895000	0.28363	-0.879000	0.04002	-1.119000	0.02030	TCC		PASS	0.443	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		30	43	30	43	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506883	11506883	+	Missense_Mutation	SNP	G	G	T	rs141106766		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:11506883G>T	ENST00000500254.2	-	3	191	c.154C>A	c.(154-156)Cct>Act	p.P52T	PRB1_ENST00000546254.1_Missense_Mutation_p.P52T|PRB1_ENST00000545626.1_Missense_Mutation_p.P52T	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)		p.P52T(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTGGAGGAGGTGGGGGGCCC	0.577																																						uc001qzw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)CCT>ACT		proline-rich protein BstNI subfamily 1 isoform 1							103.0	129.0	120.0					12																	11506883		2160	4266	6426	SO:0001583	missense	5542					extracellular region		g.chr12:11506883G>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.154C>A	12.37:g.11506883G>T	ENSP00000420826:p.Pro52Thr					PRB1_uc001qzu.1_Missense_Mutation_p.P52T|PRB1_uc001qzv.1_Missense_Mutation_p.P52T	p.P52T	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	191	-			52					Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.154C>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	4.931	0.173010	0.09391	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.04502	3.61;3.61;3.61	1.45	0.538	0.17150	.	.	.	.	.	T	0.06188	0.0160	M	0.84585	2.705	0.09310	N	1	P;P;P	0.44659	0.84;0.724;0.84	B;B;B	0.30251	0.113;0.113;0.113	T	0.30060	-0.9991	9	0.66056	D	0.02	.	4.574	0.12225	0.3759:0.0:0.6241:0.0	.	59;52;52	Q86YA1;G3V1R1;G3V1M9	.;.;.	T	52	ENSP00000444249:P52T;ENSP00000420826:P52T;ENSP00000442127:P52T	ENSP00000420826:P52T	P	-	1	0	PRB1	11398150	0.005000	0.15991	0.001000	0.08648	0.002000	0.02628	-0.437000	0.06914	0.131000	0.18576	-1.111000	0.02071	CCT		PASS	0.577	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		41	130	41	130	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15654661	15654661	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:15654661G>A	ENST00000281171.4	+	5	1099	c.769G>A	c.(769-771)Gat>Aat	p.D257N	PTPRO_ENST00000543886.1_Missense_Mutation_p.D257N|PTPRO_ENST00000348962.2_Missense_Mutation_p.D257N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	257	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.D257N(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GAGATCACAAGATACAATAGG	0.393																																						uc001rcv.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(769-771)GAT>AAT		receptor-type protein tyrosine phosphatase O							62.0	63.0	62.0					12																	15654661		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654661G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.769G>A	12.37:g.15654661G>A	ENSP00000281171:p.Asp257Asn					PTPRO_uc001rcw.1_Missense_Mutation_p.D257N|PTPRO_uc001rcu.1_Missense_Mutation_p.D257N	p.D257N	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			5	943	+		Hepatocellular(102;0.244)	257			Fibronectin type-III 3.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.769G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601241	0.28534	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.03860	3.78;3.79	4.69	4.69	0.59074	.	0.623455	0.13951	N	0.351514	T	0.04363	0.0120	N	0.19112	0.55	0.80722	D	1	B;B;B	0.10296	0.003;0.002;0.0	B;B;B	0.09377	0.004;0.002;0.001	T	0.45862	-0.9232	10	0.39692	T	0.17	.	12.3232	0.54997	0.0811:0.0:0.9189:0.0	.	257;257;257	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	N	257	ENSP00000281171:D257N;ENSP00000343434:D257N	ENSP00000281171:D257N	D	+	1	0	PTPRO	15545928	1.000000	0.71417	0.501000	0.27601	0.090000	0.18270	3.303000	0.51858	2.436000	0.82500	0.650000	0.86243	GAT		PASS	0.393	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			11	33	11	33	---	---	---	---
RPS26	6231	broad.mit.edu	37	12	56436328	56436328	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:56436328T>G	ENST00000356464.5	+	2	437	c.123T>G	c.(121-123)atT>atG	p.I41M	RPS26_ENST00000552361.1_Missense_Mutation_p.I41M|RP11-603J24.4_ENST00000551846.1_RNA			P62854	RS26_HUMAN	ribosomal protein S26	41					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I41M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AATTCGTCATTCGAAACATAG	0.557																																						uc001sjf.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(121-123)ATT>ATG		ribosomal protein S26							34.0	37.0	36.0					12																	56436328		2185	4261	6446	SO:0001583	missense	6231				endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome	g.chr12:56436328T>G	AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"""S ribosomal proteins"""	10414	protein-coding gene	gene with protein product	"""40S ribosomal protein S26"""	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.123T>G	12.37:g.56436328T>G	ENSP00000348849:p.Ile41Met						p.I41M	NM_001029	NP_001020	P62854	RS26_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		2	388	+			41					P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Missense_Mutation	SNP	ENST00000356464.5	37	c.123T>G	CCDS31832.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.904339	0.72868	.	.	ENSG00000197728	ENST00000356464;ENST00000552361	D;D	0.90900	-2.75;-2.75	4.43	-4.07	0.03975	.	0.000000	0.64402	U	0.000002	D	0.92473	0.7610	M	0.78637	2.42	0.43756	D	0.996266	D	0.69078	0.997	D	0.73708	0.981	D	0.89294	0.3621	10	0.87932	D	0	-7.6324	7.0414	0.25023	0.2695:0.5341:0.0:0.1963	.	41	P62854	RS26_HUMAN	M	41	ENSP00000348849:I41M;ENSP00000450339:I41M	ENSP00000348849:I41M	I	+	3	3	RPS26	54722595	1.000000	0.71417	0.915000	0.36163	0.822000	0.46500	0.764000	0.26532	-0.621000	0.05633	0.460000	0.39030	ATT		PASS	0.557	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407616.1	NM_001029		5	33	5	33	---	---	---	---
ATP5B	506	broad.mit.edu	37	12	57033843	57033843	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:57033843G>T	ENST00000262030.3	-	8	1258	c.1208C>A	c.(1207-1209)tCc>tAc	p.S403Y	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.S392Y	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	403					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.S403Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACGAGAGGTGGAGTCTAGAGG	0.522																																						uc001slr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1207-1209)TCC>TAC		mitochondrial ATP synthase beta subunit							131.0	109.0	116.0					12																	57033843		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57033843G>T	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1208C>A	12.37:g.57033843G>T	ENSP00000262030:p.Ser403Tyr						p.S403Y	NM_001686	NP_001677	P06576	ATPB_HUMAN			8	1313	-			403					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.1208C>A	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144856	0.94603	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104	D;D	0.92595	-3.07;-3.07	5.77	5.77	0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98582	0.9526	H	0.99986	5.255	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99222	1.0879	10	0.87932	D	0	-1.569	18.7629	0.91860	0.0:0.0:1.0:0.0	.	403	P06576	ATPB_HUMAN	Y	403;392;106	ENSP00000262030:S403Y;ENSP00000450297:S392Y	ENSP00000262030:S403Y	S	-	2	0	ATP5B	55320110	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.618000	0.98365	2.723000	0.93209	0.655000	0.94253	TCC		PASS	0.522	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		5	62	5	62	---	---	---	---
SLC16A7	9194	broad.mit.edu	37	12	60169075	60169075	+	Silent	SNP	G	G	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:60169075G>C	ENST00000261187.4	+	4	1163	c.999G>C	c.(997-999)ctG>ctC	p.L333L	SLC16A7_ENST00000552432.1_Silent_p.L333L|SLC16A7_ENST00000552024.1_Silent_p.L333L|SLC16A7_ENST00000547379.1_Silent_p.L333L|SLC16A7_ENST00000543448.1_Silent_p.L234L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	333					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.L333L(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TGTGCCCACTGGCACAGGACT	0.423																																						uc001sqs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(997-999)CTG>CTC		solute carrier family 16, member 7	Pyruvic acid(DB00119)						193.0	183.0	186.0					12																	60169075		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169075G>C	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.999G>C	12.37:g.60169075G>C						SLC16A7_uc001sqt.2_Silent_p.L333L|SLC16A7_uc001squ.2_Silent_p.L333L|SLC16A7_uc009zqi.2_Silent_p.L234L|SLC16A7_uc010ssi.1_Silent_p.L234L	p.L333L	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1298	+			333			Helical; (Potential).		Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.999G>C	CCDS8961.1																																																																																				PASS	0.423	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		14	81	14	81	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81624881	81624881	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:81624881G>T	ENST00000548058.1	+	12	2470	c.1560G>T	c.(1558-1560)caG>caT	p.Q520H	ACSS3_ENST00000548324.1_Missense_Mutation_p.Q202H|ACSS3_ENST00000261206.3_Missense_Mutation_p.Q519H			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	520						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.Q520H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGAAGAATCAGGAAGCATTCA	0.303																																						uc001szl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1558-1560)CAG>CAT		acyl-CoA synthetase short-chain family member 3							65.0	66.0	66.0					12																	81624881		2203	4297	6500	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81624881G>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1560G>T	12.37:g.81624881G>T	ENSP00000449535:p.Gln520His					ACSS3_uc001szm.1_Missense_Mutation_p.Q519H|ACSS3_uc001szn.1_Missense_Mutation_p.Q202H	p.Q520H	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			12	1651	+			520					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1560G>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	9.945	1.218666	0.22373	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.40476	1.03;1.03;1.03	5.63	2.81	0.32909	AMP-dependent synthetase/ligase (1);	0.485196	0.22879	N	0.054527	T	0.11281	0.0275	N	0.00569	-1.365	0.36663	D	0.878045	B;B	0.12630	0.001;0.006	B;B	0.12837	0.004;0.008	T	0.06338	-1.0832	10	0.20046	T	0.44	-13.7981	5.5184	0.16919	0.2816:0.0:0.5892:0.1291	.	202;520	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	H	520;519;202	ENSP00000449535:Q520H;ENSP00000261206:Q519H;ENSP00000448965:Q202H	ENSP00000261206:Q519H	Q	+	3	2	ACSS3	80149012	0.923000	0.31300	1.000000	0.80357	0.998000	0.95712	-0.070000	0.11523	0.745000	0.32763	0.591000	0.81541	CAG		PASS	0.303	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		5	18	5	18	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81833821	81833821	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:81833821C>A	ENST00000549396.1	-	7	735	c.575G>T	c.(574-576)aGg>aTg	p.R192M	PPFIA2_ENST00000333447.7_Missense_Mutation_p.R174M|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R118M|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R39M|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R192M|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R174M|PPFIA2_ENST00000443686.3_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R192M|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R192M	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	192	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R192K(1)|p.R192M(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CAGTCGCTCCCTTACCTAGAA	0.398																																						uc001szo.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(574-576)AGG>ATG		PTPRF interacting protein alpha 2							87.0	81.0	83.0					12																	81833821		1873	4111	5984	SO:0001583	missense	8499							g.chr12:81833821C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.575G>T	12.37:g.81833821C>A	ENSP00000450337:p.Arg192Met					PPFIA2_uc010sue.1_Missense_Mutation_p.R92M|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_Intron|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.R192M	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			7	736	-			118					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.575G>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.852158|4.852158	0.91355|0.91355	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000548790|ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000552948	.|T;T;T;T;T;T	.|0.50813	.|0.73;0.73;0.73;0.73;0.73;0.73	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57784|0.57784	0.2077|0.2077	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.99	.|D;D	.|0.81914	.|0.995;0.962	T|T	0.63287|0.63287	-0.6671|-0.6671	5|10	.|0.87932	.|D	.|0	-16.3875|-16.3875	19.0052|19.0052	0.92848|0.92848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|92;192	.|B7Z4H8;O75334	.|.;LIPA2_HUMAN	W|M	10|192;174;118;203;174;192;192	.|ENSP00000450337:R192M;ENSP00000450298:R174M;ENSP00000385093:R118M;ENSP00000327416:R174M;ENSP00000449338:R192M;ENSP00000447868:R192M	.|ENSP00000327416:R174M	G|R	-|-	1|2	0|0	PPFIA2|PPFIA2	80357952|80357952	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.731000|7.731000	0.84895|0.84895	2.507000|2.507000	0.84556|0.84556	0.585000|0.585000	0.79938|0.79938	GGG|AGG		PASS	0.398	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			16	17	16	17	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85547831	85547831	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:85547831G>T	ENST00000393217.2	+	23	4740	c.4679G>T	c.(4678-4680)aGg>aTg	p.R1560M		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1560								p.R1560M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGTTGAAGAGGGCACAGAAA	0.294																																						uc001tac.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4678-4680)AGG>ATG		leucine-rich repeats and IQ motif containing 1							33.0	32.0	32.0					12																	85547831		1782	4038	5820	SO:0001583	missense	84125							g.chr12:85547831G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4679G>T	12.37:g.85547831G>T	ENSP00000376910:p.Arg1560Met						p.R1560M	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	23	4790	+			1560					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4679G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509045	0.64410	.	.	ENSG00000133640	ENST00000393217	T	0.80393	-1.37	5.36	5.36	0.76844	.	.	.	.	.	D	0.84920	0.5579	L	0.27053	0.805	0.43091	D	0.994765	D	0.89917	1.0	D	0.87578	0.998	D	0.86954	0.2087	9	0.87932	D	0	.	19.4494	0.94861	0.0:0.0:1.0:0.0	.	1560	Q96JM4	LRIQ1_HUMAN	M	1560	ENSP00000376910:R1560M	ENSP00000376910:R1560M	R	+	2	0	LRRIQ1	84071962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	2.645000	0.89757	0.650000	0.86243	AGG		PASS	0.294	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		3	5	3	5	---	---	---	---
RASSF9	9182	broad.mit.edu	37	12	86199109	86199109	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:86199109C>A	ENST00000361228.3	-	2	1047	c.679G>T	c.(679-681)Gga>Tga	p.G227*		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	227					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.G227*(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAGTTTTCTCCATCATTTTCT	0.398																																						uc001taf.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(679-681)GGA>TGA		Ras association (RalGDS/AF-6) domain family							156.0	148.0	151.0					12																	86199109		1853	4114	5967	SO:0001587	stop_gained	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199109C>A		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.679G>T	12.37:g.86199109C>A	ENSP00000354884:p.Gly227*						p.G227*	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	1018	-			227			Potential.		B3KMQ4|Q8N5U8	Nonsense_Mutation	SNP	ENST00000361228.3	37	c.679G>T	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	38	6.938828	0.97948	.	.	ENSG00000198774	ENST00000361228	.	.	.	4.84	4.84	0.62591	.	0.157057	0.46145	D	0.000315	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-10.3122	18.2898	0.90126	0.0:1.0:0.0:0.0	.	.	.	.	X	227	.	ENSP00000354884:G227X	G	-	1	0	RASSF9	84723240	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.614000	0.61183	2.405000	0.81733	0.650000	0.86243	GGA		PASS	0.398	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			51	56	51	56	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97150340	97150340	+	Splice_Site	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:97150340G>T	ENST00000524981.4	+	57	7968	c.7945G>T	c.(7945-7947)Gga>Tga	p.G2649*				Q96N23	CL055_HUMAN		0								p.G1074*(1)									TCAAAACTCAGGGTAAAAAGA	0.388																																						uc001tet.1																			1	Substitution - Nonsense(1)		lung(1)	skin(6)|ovary(1)	7						c.(3220-3222)GGA>TGA		hypothetical protein LOC374467							86.0	96.0	93.0					12																	97150340		2201	4299	6500	SO:0001630	splice_region_variant	374467							g.chr12:97150340G>T																												ENST00000524981.4:c.7946+1G>T	12.37:g.97150340G>T							p.G1074*	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			24	3298	+			1074						Nonsense_Mutation	SNP	ENST00000524981.4	37	c.3220G>T		.	.	.	.	.	.	.	.	.	.	G	47	13.613704	0.99753	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.4	4.51	0.55191	.	0.307999	0.27976	N	0.017088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.553	12.5518	0.56231	0.0772:0.0:0.9228:0.0	.	.	.	.	X	2649;1074	.	ENSP00000345466:G1074X	G	+	1	0	C12orf63	95674471	1.000000	0.71417	0.911000	0.35937	0.351000	0.29236	3.212000	0.51145	1.427000	0.47276	0.650000	0.86243	GGA		PASS	0.388	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		Nonsense_Mutation	9	18	9	18	---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106889912	106889912	+	Silent	SNP	A	A	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:106889912A>C	ENST00000228347.4	+	24	3015	c.2793A>C	c.(2791-2793)ccA>ccC	p.P931P	POLR3B_ENST00000539066.1_Silent_p.P873P|RP11-144F15.1_ENST00000551505.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	931					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.P931P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TCATGAACCCACACGGCTTCC	0.488																																						uc001tlp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2791-2793)CCA>CCC		DNA-directed RNA polymerase III B isoform 1							181.0	155.0	164.0					12																	106889912		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106889912A>C	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2793A>C	12.37:g.106889912A>C						POLR3B_uc001tlq.2_Silent_p.P873P	p.P931P	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			24	3015	+			931					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.2793A>C	CCDS9105.1																																																																																				PASS	0.488	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		16	98	16	98	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	118199246	118199246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:118199246C>A	ENST00000339824.5	-	4	1283	c.556G>T	c.(556-558)Gag>Tag	p.E186*	KSR2_ENST00000425217.1_Nonsense_Mutation_p.E157*			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	186	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E218*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGTGGGCTCCGGGGGGCAC	0.637																																						uc001two.2																			1	Substitution - Nonsense(1)		lung(1)	lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(469-471)GAG>TAG		kinase suppressor of ras 2							47.0	49.0	48.0					12																	118199246		1921	4116	6037	SO:0001587	stop_gained	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199246C>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.556G>T	12.37:g.118199246C>A	ENSP00000339952:p.Glu186*						p.E157*	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			4	524	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		186			Pro-rich.		A0PJT2|Q3B828|Q8N775	Nonsense_Mutation	SNP	ENST00000339824.5	37	c.469G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.435333	0.97564	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	.	.	.	4.63	4.63	0.57726	.	0.191750	0.44902	D	0.000419	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	17.2637	0.87079	0.0:1.0:0.0:0.0	.	.	.	.	X	157;186	.	ENSP00000339952:E186X	E	-	1	0	KSR2	116683629	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.284000	0.78650	2.385000	0.81259	0.491000	0.48974	GAG		PASS	0.637	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		9	47	9	47	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124330532	124330532	+	Missense_Mutation	SNP	G	G	T	rs56096831	byFrequency	TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:124330532G>T	ENST00000409039.3	+	31	5316	c.5291G>T	c.(5290-5292)cGa>cTa	p.R1764L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1764	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1764L(1)|p.R356L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGAGGCCCGAGAGTTTGAC	0.557																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5290-5292)CGA>CTA		dynein, axonemal, heavy chain 10							94.0	97.0	96.0					12																	124330532		1878	4102	5980	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124330532G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5291G>T	12.37:g.124330532G>T	ENSP00000386770:p.Arg1764Leu						p.R1764L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	31	5316	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1764			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5291G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964610	0.34659	.	.	ENSG00000197653	ENST00000409039	T	0.21932	1.98	5.56	3.75	0.43078	.	0.334286	0.24527	U	0.037756	T	0.18841	0.0452	L	0.50993	1.605	0.42356	D	0.992396	P	0.36048	0.534	B	0.35312	0.2	T	0.03060	-1.1077	10	0.29301	T	0.29	.	9.9445	0.41600	0.2348:0.0:0.7652:0.0	.	1764	Q8IVF4	DYH10_HUMAN	L	1764	ENSP00000386770:R1764L	ENSP00000386770:R1764L	R	+	2	0	DNAH10	122896485	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	5.100000	0.64560	0.713000	0.32060	0.561000	0.74099	CGA		PASS	0.557	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			7	94	7	94	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130897317	130897317	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:130897317C>A	ENST00000261655.4	-	15	2831	c.2668G>T	c.(2668-2670)Gac>Tac	p.D890Y		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	890	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D890Y(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCATCAGCGTCTTTATCACCA	0.448																																						uc001uil.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2668-2670)GAC>TAC		RIM-binding protein 2							81.0	80.0	80.0					12																	130897317		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130897317C>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2668G>T	12.37:g.130897317C>A	ENSP00000261655:p.Asp890Tyr						p.D890Y	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	15	2832	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	890			SH3 2.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2668G>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873829	0.51695	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.37584	1.19;1.19	5.06	5.06	0.68205	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76908	-0.2785	10	0.87932	D	0	-26.3593	18.4389	0.90658	0.0:1.0:0.0:0.0	.	890	O15034	RIMB2_HUMAN	Y	890;27	ENSP00000261655:D890Y;ENSP00000439030:D27Y	ENSP00000261655:D890Y	D	-	1	0	RIMBP2	129463270	1.000000	0.71417	0.074000	0.20217	0.074000	0.17049	7.746000	0.85057	2.339000	0.79563	0.655000	0.94253	GAC		PASS	0.448	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		17	29	17	29	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132516566	132516566	+	Silent	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:132516566C>A	ENST00000333577.4	+	31	6040	c.5931C>A	c.(5929-5931)acC>acA	p.T1977T	EP400_ENST00000389562.2_Silent_p.T1940T|EP400_ENST00000330386.6_Silent_p.T1860T|EP400_ENST00000332482.4_Silent_p.T1904T|EP400_ENST00000389561.2_Silent_p.T1941T|SNORA49_ENST00000386157.1_RNA			Q96L91	EP400_HUMAN	E1A binding protein p400	1977	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T1940T(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACAGCCGTACCACAGGTATAA	0.463																																						uc001ujn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(5821-5823)ACC>ACA		E1A binding protein p400							150.0	149.0	149.0					12																	132516566		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132516566C>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5931C>A	12.37:g.132516566C>A						EP400_uc001ujl.2_Silent_p.T1940T|EP400_uc001ujm.2_Silent_p.T1860T	p.T1941T	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	29	5858	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1977			Helicase C-terminal.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.5823C>A																																																																																					PASS	0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	126	6	126	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41706151	41706151	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr13:41706151C>A	ENST00000379485.1	-	1	731	c.497G>T	c.(496-498)cGa>cTa	p.R166L	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R100L	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	166								p.R166L(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GTCAAGACGTCGGGCTAAGAA	0.582																																						uc001uxu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(496-498)CGA>CTA		kelch repeat and BTB (POZ) domain-containing 6							91.0	85.0	87.0					13																	41706151		2203	4298	6501	SO:0001583	missense	89890						protein binding	g.chr13:41706151C>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.497G>T	13.37:g.41706151C>A	ENSP00000368799:p.Arg166Leu					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.R100L|uc001uxv.1_5'Flank	p.R166L	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	786	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	166					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.497G>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	18.46	3.629403	0.67015	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.71934	-0.61;-0.61	3.56	3.56	0.40772	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	M	0.80183	2.485	0.49389	D	0.999787	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85420	0.1142	10	0.62326	D	0.03	.	13.002	0.58681	0.0:1.0:0.0:0.0	.	100;166	F5GZN7;Q86V97	.;KBTB6_HUMAN	L	166;100	ENSP00000368799:R166L;ENSP00000444326:R100L	ENSP00000368799:R166L	R	-	2	0	KBTBD6	40604151	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	4.410000	0.59774	1.999000	0.58509	0.313000	0.20887	CGA		PASS	0.582	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		25	26	25	26	---	---	---	---
KCTD4	386618	broad.mit.edu	37	13	45768460	45768460	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr13:45768460C>G	ENST00000379108.1	-	1	392	c.243G>C	c.(241-243)agG>agC	p.R81S	KCTD4_ENST00000405872.1_Missense_Mutation_p.R81S|GTF2F2_ENST00000340473.6_Intron			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	81	BTB.				protein homooligomerization (GO:0051260)			p.R81S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		GGAGACCATCCCTGTCTATGA	0.428																																						uc001uzx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)AGG>AGC		potassium channel tetramerisation domain							155.0	156.0	156.0					13																	45768460		2203	4300	6503	SO:0001583	missense	386618					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr13:45768460C>G	BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.243G>C	13.37:g.45768460C>G	ENSP00000368402:p.Arg81Ser					GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	p.R81S	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)	2	647	-		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	81			BTB.		Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	c.243G>C	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415824	0.42817	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	D;D	0.90133	-2.62;-2.62	5.96	3.18	0.36537	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	M	0.91406	3.205	0.80722	D	1	D	0.63046	0.992	D	0.64410	0.925	D	0.92711	0.6183	10	0.87932	D	0	.	4.0861	0.09948	0.0:0.5036:0.1668:0.3296	.	81	Q8WVF5	KCTD4_HUMAN	S	81	ENSP00000368402:R81S;ENSP00000385144:R81S	ENSP00000368402:R81S	R	-	3	2	KCTD4	44666460	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	0.314000	0.19432	0.869000	0.35703	0.591000	0.81541	AGG		PASS	0.428	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1			20	41	20	41	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103515036	103515036	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr13:103515036G>A	ENST00000355739.4	+	8	2960	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R938H	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	513					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.A513T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACATAGTGACGCACCTGGGCT	0.488			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1537-1539)GCA>ACA	Direct_reversal_of_damage|NER	XPG-complementing protein							73.0	66.0	68.0					13																	103515036		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103515036G>A	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1537G>A	13.37:g.103515036G>A	ENSP00000347978:p.Ala513Thr					ERCC5_uc001vpu.1_Missense_Mutation_p.A967T|ERCC5_uc010tjb.1_Missense_Mutation_p.A513T|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.A345T	p.A513T	NM_000123	NP_000114	P28715	ERCC5_HUMAN			8	1980	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		513					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.1537G>A	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339147	0.24253	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.04706	3.57	5.48	2.86	0.33363	.	1.852490	0.01956	N	0.043011	T	0.04137	0.0115	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.30605	0.019;0.009;0.287	B;B;B	0.15484	0.004;0.002;0.013	T	0.45963	-0.9225	10	0.09843	T	0.71	-0.641	8.7639	0.34692	0.2376:0.0:0.7624:0.0	.	513;513;938	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	T	938;513;345	ENSP00000347978:A513T	ENSP00000347978:A513T	A	+	1	0	ERCC5	102313037	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.498000	0.22530	0.296000	0.22592	-0.751000	0.03497	GCA		PASS	0.488	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			5	32	5	32	---	---	---	---
OR4L1	122742	broad.mit.edu	37	14	20528227	20528227	+	Silent	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr14:20528227A>G	ENST00000315683.1	+	1	24	c.24A>G	c.(22-24)ctA>ctG	p.L8L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L8L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATGGATCTCTAGTGACCGAGT	0.338																																						uc001vwn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(22-24)CTA>CTG		olfactory receptor, family 4, subfamily L,							128.0	138.0	134.0					14																	20528227		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528227A>G		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.24A>G	14.37:g.20528227A>G							p.L8L	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	24	+	all_cancers(95;0.00108)		8			Extracellular (Potential).		Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.24A>G	CCDS32029.1																																																																																				PASS	0.338	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			20	26	20	26	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36159126	36159126	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr14:36159126C>A	ENST00000389698.3	-	17	2740	c.2350G>T	c.(2350-2352)Ggt>Tgt	p.G784C	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G784C|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G784C|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.G831C	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	784					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.G784C(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCAAAGCACCAAAAACTTCA	0.408																																						uc001wti.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(2350-2352)GGT>TGT		Ral GTPase activating protein, alpha subunit 1							85.0	82.0	83.0					14																	36159126		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36159126C>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2350G>T	14.37:g.36159126C>A	ENSP00000374348:p.Gly784Cys					RALGAPA1_uc001wtj.2_Missense_Mutation_p.G784C|RALGAPA1_uc010tpv.1_Missense_Mutation_p.G784C|RALGAPA1_uc010tpw.1_Missense_Mutation_p.G831C|RALGAPA1_uc001wtk.1_Missense_Mutation_p.G682C	p.G784C	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			17	2741	-			784					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.2350G>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843355	0.51057	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.95588	-3.47;-3.48;-3.75;-3.47;-3.75	5.9	5.9	0.94986	.	0.108090	0.64402	D	0.000007	D	0.95881	0.8659	N	0.22421	0.69	0.37201	D	0.904405	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;0.995	D;P;D;D;P	0.68943	0.961;0.862;0.927;0.911;0.701	D	0.97409	1.0001	10	0.66056	D	0.02	-17.7088	20.2789	0.98501	0.0:1.0:0.0:0.0	.	831;784;831;784;784	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	C	784;784;784;831;784;831	ENSP00000374348:G784C;ENSP00000302647:G784C;ENSP00000258840:G831C;ENSP00000371803:G784C;ENSP00000451877:G831C	ENSP00000258840:G831C	G	-	1	0	RALGAPA1	35228877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.707000	0.74654	2.788000	0.95919	0.650000	0.86243	GGT		PASS	0.408	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		4	35	4	35	---	---	---	---
C14orf28	122525	broad.mit.edu	37	14	45369749	45369749	+	Silent	SNP	T	T	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr14:45369749T>G	ENST00000325192.3	+	2	386	c.111T>G	c.(109-111)gcT>gcG	p.A37A	C14orf28_ENST00000557112.1_Silent_p.A37A|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	37								p.A37A(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						CTATCAAAGCTGGCCGCAAAG	0.363																																						uc001wvo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(109-111)GCT>GCG		hypothetical protein LOC122525							78.0	81.0	80.0					14																	45369749		2203	4300	6503	SO:0001819	synonymous_variant	122525							g.chr14:45369749T>G	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.111T>G	14.37:g.45369749T>G						C14orf28_uc001wvp.1_Silent_p.A37A	p.A37A	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN			2	377	+			37						Silent	SNP	ENST00000325192.3	37	c.111T>G	CCDS32069.1																																																																																				PASS	0.363	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		12	27	12	27	---	---	---	---
AK7	122481	broad.mit.edu	37	14	96864475	96864475	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr14:96864475G>A	ENST00000267584.4	+	2	213	c.169G>A	c.(169-171)Gat>Aat	p.D57N	AK7_ENST00000555570.1_Missense_Mutation_p.D57N	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	57	Poly-Glu.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.D57N(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGAAGAGGAAGATGAAAATAA	0.468																																						uc001yfn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)GAT>AAT		adenylate kinase 7							115.0	110.0	111.0					14																	96864475		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96864475G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.169G>A	14.37:g.96864475G>A	ENSP00000267584:p.Asp57Asn					AK7_uc001yfm.1_Missense_Mutation_p.D57N	p.D57N	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	2	213	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	57			Poly-Glu.|Potential.		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.169G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745744	0.49151	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.56611	0.45	5.25	5.25	0.73442	.	0.487767	0.20559	N	0.089950	T	0.46678	0.1405	L	0.54323	1.7	0.32100	N	0.590742	P;B	0.35656	0.514;0.074	B;B	0.32393	0.145;0.047	T	0.59096	-0.7518	10	0.37606	T	0.19	-21.2774	13.2035	0.59782	0.0794:0.0:0.9206:0.0	.	57;57	Q96M32;G3V365	KAD7_HUMAN;.	N	57	ENSP00000267584:D57N	ENSP00000267584:D57N	D	+	1	0	AK7	95934228	0.998000	0.40836	0.998000	0.56505	0.838000	0.47535	2.681000	0.46926	2.471000	0.83476	0.491000	0.48974	GAT		PASS	0.468	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			16	77	16	77	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921171	24921171	+	Silent	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr15:24921171C>A	ENST00000329468.2	+	1	631	c.157C>A	c.(157-159)Cgg>Agg	p.R53R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	53					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R53R(1)|p.R53W(1)									CCTGTTCCGCCGGAACGCCCG	0.756																																						uc001ywo.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(157-159)CGG>AGG		hypothetical protein LOC23742							13.0	17.0	16.0					15																	24921171		2160	4205	6365	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921171C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.157C>A	15.37:g.24921171C>A							p.R53R	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	631	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	53						Silent	SNP	ENST00000329468.2	37	c.157C>A	CCDS10015.1																																																																																				PASS	0.756	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		8	16	8	16	---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40462841	40462841	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr15:40462841T>C	ENST00000287598.6	+	4	538	c.343T>C	c.(343-345)Tat>Cat	p.Y115H	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.Y129H	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	115	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Y115H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AGAAAAACGATATTATAGTGA	0.363			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|kidney(1)	4						c.(343-345)TAT>CAT		budding uninhibited by benzimidazoles 1 beta							93.0	92.0	92.0					15																	40462841		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40462841T>C	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.343T>C	15.37:g.40462841T>C	ENSP00000287598:p.Tyr115His						p.Y115H	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	4	555	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	115			BUB1 N-terminal.|Nuclear localization signal (Potential).		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.343T>C	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.963390	0.74016	.	.	ENSG00000156970	ENST00000287598;ENST00000412359	T;T	0.77358	-1.09;-1.09	5.85	4.73	0.59995	Mad3/BUB1 homology region 1 (3);	0.000000	0.85682	D	0.000000	D	0.90525	0.7031	H	0.94808	3.585	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.91863	0.5501	10	0.87932	D	0	-13.1866	11.8399	0.52348	0.0:0.0682:0.0:0.9318	.	115	O60566	BUB1B_HUMAN	H	115;129	ENSP00000287598:Y115H;ENSP00000398470:Y129H	ENSP00000287598:Y115H	Y	+	1	0	BUB1B	38250133	1.000000	0.71417	0.283000	0.24790	0.759000	0.43091	7.501000	0.81600	1.046000	0.40249	-0.256000	0.11100	TAT		PASS	0.363	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			12	32	12	32	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54305912	54305912	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr15:54305912A>G	ENST00000260323.11	+	1	812	c.812A>G	c.(811-813)aAg>aGg	p.K271R	UNC13C_ENST00000545554.1_Missense_Mutation_p.K271R|UNC13C_ENST00000537900.1_Missense_Mutation_p.K271R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	271					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.K271R(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATGCTCTCAAGCACTCCATC	0.453																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(811-813)AAG>AGG		unc-13 homolog C							99.0	96.0	97.0					15																	54305912		1984	4166	6150	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305912A>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.812A>G	15.37:g.54305912A>G	ENSP00000260323:p.Lys271Arg						p.K271R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	812	+			271					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.812A>G	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.413107	0.42817	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85955	-2.05;-2.05;-2.05	4.97	3.85	0.44370	.	.	.	.	.	T	0.69913	0.3164	N	0.11201	0.11	0.42123	D	0.991431	B	0.13145	0.007	B	0.12837	0.008	T	0.60398	-0.7271	9	0.27785	T	0.31	.	9.6218	0.39725	0.9176:0.0:0.0824:0.0	.	271	Q8NB66	UN13C_HUMAN	R	271	ENSP00000260323:K271R;ENSP00000438156:K271R;ENSP00000442569:K271R	ENSP00000260323:K271R	K	+	2	0	UNC13C	52093204	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.461000	0.80834	0.744000	0.32741	0.528000	0.53228	AAG		PASS	0.453	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		52	71	52	71	---	---	---	---
SCAPER	49855	broad.mit.edu	37	15	77092589	77092589	+	Splice_Site	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr15:77092589C>A	ENST00000563290.1	-	7	706	c.611G>T	c.(610-612)gGa>gTa	p.G204V	SCAPER_ENST00000562890.1_5'Flank|SCAPER_ENST00000324767.7_Splice_Site_p.G204V|SCAPER_ENST00000538941.2_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	204						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G204V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTCATCTCACCCAAAATTTAA	0.318																																						uc002bby.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(610-612)GGA>GTA		S-phase cyclin A-associated protein in the ER							108.0	93.0	97.0					15																	77092589		1804	4073	5877	SO:0001630	splice_region_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77092589C>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.611+1G>T	15.37:g.77092589C>A						SCAPER_uc002bbx.2_5'UTR|SCAPER_uc002bbz.1_Missense_Mutation_p.G69V|SCAPER_uc002bca.1_Missense_Mutation_p.G69V|SCAPER_uc002bcb.1_Missense_Mutation_p.G204V|SCAPER_uc002bcc.1_Missense_Mutation_p.G204V	p.G204V	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			6	670	-			203					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.611G>T	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809474	0.70797	.	.	ENSG00000140386	ENST00000324767;ENST00000303521	T	0.25085	1.82	5.06	5.06	0.68205	.	0.100152	0.64402	D	0.000002	T	0.51907	0.1702	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.967	D;P	0.85130	0.997;0.681	T	0.51108	-0.8747	9	.	.	.	.	18.4362	0.90646	0.0:1.0:0.0:0.0	.	204;219	Q6NSF1;Q9BY12-2	.;.	V	204;220	ENSP00000326924:G204V	.	G	-	2	0	SCAPER	74879644	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.696000	0.68287	2.332000	0.79248	0.650000	0.86243	GGA		PASS	0.318	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	Missense_Mutation	11	24	11	24	---	---	---	---
PSTPIP1	9051	broad.mit.edu	37	15	77328172	77328172	+	Missense_Mutation	SNP	G	G	A	rs372468528		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr15:77328172G>A	ENST00000558012.1	+	14	1504	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	PSTPIP1_ENST00000559295.1_Missense_Mutation_p.E320K|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.E319K|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.E336K	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	339					cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)		p.E339K(2)		breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCCCACCCCCGAGCGGAATGA	0.607																																						uc002bcf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1015-1017)GAG>AAG		proline-serine-threonine phosphatase interacting		G	LYS/GLU	1,3899		0,1,1949	30.0	36.0	34.0		1015	1.6	0.0	15		34	0,8218		0,0,4109	no	missense	PSTPIP1	NM_003978.3	56	0,1,6058	AA,AG,GG		0.0,0.0256,0.0083	benign	339/417	77328172	1,12117	1950	4109	6059	SO:0001583	missense	9051				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity	g.chr15:77328172G>A	U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.1015G>A	15.37:g.77328172G>A	ENSP00000452746:p.Glu339Lys					PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010bku.1_Missense_Mutation_p.E330K|PSTPIP1_uc002bcg.2_Missense_Mutation_p.E336K|PSTPIP1_uc010bkw.1_Missense_Mutation_p.E320K|PSTPIP1_uc002bch.1_Missense_Mutation_p.E100K|PSTPIP1_uc002bci.1_RNA	p.E339K	NM_003978	NP_003969	O43586	PPIP1_HUMAN			14	1465	+			339					B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	ENST00000558012.1	37	c.1015G>A	CCDS45312.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946707	0.34377	2.56E-4	0.0	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.52983	0.64;0.81	4.71	1.58	0.23477	.	0.730513	0.13395	N	0.391062	T	0.25644	0.0624	L	0.27053	0.805	0.09310	N	1	B;B;B	0.32653	0.379;0.242;0.081	B;B;B	0.27887	0.084;0.036;0.022	T	0.16100	-1.0414	10	0.08179	T	0.78	-20.4374	6.5968	0.22679	0.1683:0.148:0.6837:0.0	.	320;319;339	O43586-2;C9K004;O43586	.;.;PPIP1_HUMAN	K	339;319	ENSP00000368914:E339K;ENSP00000267939:E319K	ENSP00000267939:E319K	E	+	1	0	PSTPIP1	75115227	0.001000	0.12720	0.001000	0.08648	0.269000	0.26545	0.491000	0.22419	0.533000	0.28675	0.561000	0.74099	GAG		PASS	0.607	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2	NM_003978		6	16	6	16	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101933589	101933589	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr15:101933589C>A	ENST00000348070.1	-	9	1033	c.1034G>T	c.(1033-1035)gGg>gTg	p.G345V	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.G345V|PCSK6_ENST00000358417.3_Missense_Mutation_p.G345V|PCSK6_ENST00000344273.2_Missense_Mutation_p.G345V|PCSK6_ENST00000331826.7_Missense_Mutation_p.G180V	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	346	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.G345V(3)|p.G180V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCGCCATTCCCAGATGCCCA	0.622																																						uc002bwy.2																			4	Substitution - Missense(4)		lung(4)	pancreas(2)	2						c.(1036-1038)GGG>GTG		paired basic amino acid cleaving system 4							48.0	57.0	54.0					15																	101933589		2199	4300	6499	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101933589C>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1034G>T	15.37:g.101933589C>A	ENSP00000305056:p.Gly345Val					PCSK6_uc010bpd.2_Missense_Mutation_p.G216V|PCSK6_uc010bpe.2_Missense_Mutation_p.G346V|PCSK6_uc002bxa.2_Missense_Mutation_p.G346V|PCSK6_uc002bxb.2_Missense_Mutation_p.G346V|PCSK6_uc002bxc.1_Missense_Mutation_p.G346V|PCSK6_uc002bxd.1_Missense_Mutation_p.G346V|PCSK6_uc002bxe.2_Missense_Mutation_p.G346V|PCSK6_uc002bxg.1_Missense_Mutation_p.G346V	p.G346V	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	1351	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		346			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1037G>T		.	.	.	.	.	.	.	.	.	.	C	23.3	4.395825	0.83011	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D;D	0.98105	-4.72;-4.72;-1.62;-4.72;-4.72;-4.72	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	H	0.99325	4.515	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D	0.98262	1.0499	10	0.87932	D	0	-45.1142	18.9896	0.92786	0.0:1.0:0.0:0.0	.	346;251;345;346;345;345;346;346;345	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	V	345;345;250;345;345;180	ENSP00000305056:G345V;ENSP00000351193:G345V;ENSP00000381246:G250V;ENSP00000344410:G345V;ENSP00000381243:G345V;ENSP00000332052:G180V	ENSP00000332052:G180V	G	-	2	0	PCSK6	99751112	1.000000	0.71417	0.993000	0.49108	0.522000	0.34438	7.587000	0.82613	2.793000	0.96121	0.655000	0.94253	GGG		PASS	0.622	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		14	16	14	16	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2141865	2141865	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr16:2141865G>A	ENST00000262304.4	-	41	11662	c.11454C>T	c.(11452-11454)ggC>ggT	p.G3818G	MIR1225_ENST00000408729.1_RNA|PKD1_ENST00000423118.1_Silent_p.G3817G|RP11-304L19.1_ENST00000570072.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3818					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.G3818G(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTGCACGTAGCCCCCGCTGT	0.711																																						uc002cos.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(11452-11454)GGC>GGT		polycystin 1 isoform 1 precursor							18.0	18.0	18.0					16																	2141865		2193	4291	6484	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2141865G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11454C>T	16.37:g.2141865G>A						PKD1_uc002cot.1_Silent_p.G3817G|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA	p.G3818G	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			41	11663	-			3818			Extracellular (Potential).		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.11454C>T	CCDS32369.1																																																																																				PASS	0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	3	3	3	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2816580	2816580	+	Silent	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr16:2816580C>T	ENST00000301740.8	+	11	6600	c.6051C>T	c.(6049-6051)cgC>cgT	p.R2017R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2017	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R2017R(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACGCCGCCGCTCTAGGTCCC	0.582																																						uc002crk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(6049-6051)CGC>CGT		splicing coactivator subunit SRm300							59.0	64.0	63.0					16																	2816580		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2816580C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6051C>T	16.37:g.2816580C>T						SRRM2_uc002crj.1_Silent_p.R1921R|SRRM2_uc002crl.1_Silent_p.R2017R|SRRM2_uc010bsu.1_Silent_p.R1921R	p.R2017R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	6600	+			2017			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.6051C>T	CCDS32373.1																																																																																				PASS	0.582	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			6	29	6	29	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20430682	20430682	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr16:20430682G>A	ENST00000331849.4	+	4	695	c.548G>A	c.(547-549)tGc>tAc	p.C183Y	ACSM5_ENST00000575584.1_Missense_Mutation_p.C183Y	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	183					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.C183Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AGTGCCGAATGCCCCTCCCTC	0.592																																						uc002dhe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(547-549)TGC>TAC		acyl-CoA synthetase medium-chain family member 5							71.0	61.0	64.0					16																	20430682		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20430682G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.548G>A	16.37:g.20430682G>A	ENSP00000327916:p.Cys183Tyr					ACSM5_uc002dhd.1_Missense_Mutation_p.C183Y	p.C183Y	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			4	695	+			183					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.548G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761430	0.49468	.	.	ENSG00000183549	ENST00000331849	T	0.49720	0.77	4.65	4.65	0.58169	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000002	T	0.68146	0.2969	M	0.79011	2.435	0.44927	D	0.997945	D	0.89917	1.0	D	0.87578	0.998	T	0.72161	-0.4374	10	0.87932	D	0	-19.4388	13.447	0.61146	0.0:0.1575:0.8425:0.0	.	183	Q6NUN0	ACSM5_HUMAN	Y	183	ENSP00000327916:C183Y	ENSP00000327916:C183Y	C	+	2	0	ACSM5	20338183	1.000000	0.71417	0.999000	0.59377	0.433000	0.31745	5.654000	0.67974	2.561000	0.86390	0.650000	0.86243	TGC		PASS	0.592	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		13	23	13	23	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27518417	27518417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr16:27518417C>A	ENST00000356183.4	-	9	1318	c.1303G>T	c.(1303-1305)Gag>Tag	p.E435*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.E435*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	435					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E435*(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCGCTCTCCTCTGCAAACACG	0.557																																						uc002dov.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1303-1305)GAG>TAG		general transcription factor IIIC, polypeptide							71.0	67.0	69.0					16																	27518417		2197	4300	6497	SO:0001587	stop_gained	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27518417C>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1303G>T	16.37:g.27518417C>A	ENSP00000348510:p.Glu435*					GTF3C1_uc002dou.2_Nonsense_Mutation_p.E435*	p.E435*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			9	1343	-			435					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Nonsense_Mutation	SNP	ENST00000356183.4	37	c.1303G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	38	6.672359	0.97751	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	.	.	.	4.92	4.92	0.64577	.	0.131690	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-6.7794	17.7591	0.88459	0.0:1.0:0.0:0.0	.	.	.	.	X	435;433	.	ENSP00000348510:E435X	E	-	1	0	GTF3C1	27425918	1.000000	0.71417	0.903000	0.35520	0.975000	0.68041	6.629000	0.74267	2.282000	0.76494	0.650000	0.86243	GAG		PASS	0.557	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		10	27	10	27	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48142361	48142361	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr16:48142361C>A	ENST00000311303.3	-	17	2706	c.2361G>T	c.(2359-2361)aaG>aaT	p.K787N	ABCC12_ENST00000448542.1_Missense_Mutation_p.K784N|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	787						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.K787N(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTCCAGAAGCCTTAATGTACG	0.398																																						uc002efc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2359-2361)AAG>AAT		ATP-binding cassette protein C12							89.0	85.0	86.0					16																	48142361		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48142361C>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2361G>T	16.37:g.48142361C>A	ENSP00000311030:p.Lys787Asn					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.K787N	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			17	2707	-		all_cancers(37;0.0474)|all_lung(18;0.047)	787					Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2361G>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258156	0.59321	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.56275	0.47;0.47	5.34	3.09	0.35607	ABC transporter, transmembrane domain, type 1 (1);	0.289025	0.38492	N	0.001675	T	0.47303	0.1438	L	0.58101	1.795	0.80722	D	1	B	0.23249	0.082	B	0.22601	0.04	T	0.43491	-0.9388	10	0.72032	D	0.01	.	9.6203	0.39716	0.0:0.7963:0.0:0.2037	.	787	Q96J65	MRP9_HUMAN	N	787;784;705	ENSP00000311030:K787N;ENSP00000401855:K784N	ENSP00000311030:K787N	K	-	3	2	ABCC12	46699862	0.938000	0.31826	1.000000	0.80357	0.866000	0.49608	-0.053000	0.11846	0.433000	0.26313	0.563000	0.77884	AAG		PASS	0.398	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		4	31	4	31	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53524121	53524121	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr16:53524121G>A	ENST00000262133.6	+	22	3466	c.3329G>A	c.(3328-3330)aGt>aAt	p.S1110N	RBL2_ENST00000544545.1_Missense_Mutation_p.S489N|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1110					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.S1110N(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGATGGAAGTGAATCACCT	0.403																																						uc002ehi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(3328-3330)AGT>AAT		retinoblastoma-like 2 (p130)							89.0	91.0	90.0					16																	53524121		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53524121G>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3329G>A	16.37:g.53524121G>A	ENSP00000262133:p.Ser1110Asn					RBL2_uc002ehj.2_Missense_Mutation_p.S820N|RBL2_uc010vgw.1_Missense_Mutation_p.S489N	p.S1110N	NM_005611	NP_005602	Q08999	RBL2_HUMAN			22	3447	+			1110					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.3329G>A	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081375	0.76528	.	.	ENSG00000103479	ENST00000262133;ENST00000379935;ENST00000544545	T;T	0.51071	0.72;0.72	5.63	5.63	0.86233	.	0.170125	0.53938	D	0.000042	T	0.41236	0.1150	L	0.47716	1.5	0.20403	N	0.999902	B;B;B	0.33694	0.421;0.027;0.18	B;B;B	0.24848	0.056;0.044;0.035	T	0.41858	-0.9485	10	0.45353	T	0.12	-26.6377	16.6904	0.85320	0.0:0.196:0.804:0.0	.	489;820;1110	B7Z913;E9PG04;Q08999	.;.;RBL2_HUMAN	N	1110;820;489	ENSP00000262133:S1110N;ENSP00000444685:S489N	ENSP00000262133:S1110N	S	+	2	0	RBL2	52081622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.436000	0.52856	2.805000	0.96524	0.655000	0.94253	AGT		PASS	0.403	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		7	42	7	42	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68023977	68023977	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr16:68023977G>T	ENST00000572888.1	-	7	1617	c.967C>A	c.(967-969)Cca>Aca	p.P323T	DPEP2_ENST00000412757.2_Missense_Mutation_p.P323T|DPEP2_ENST00000393847.1_Missense_Mutation_p.P323T			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	323					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.P323T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TTGGCTGATGGGTTGCACTGT	0.572																																						uc010cey.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(967-969)CCA>ACA		dipeptidase 2 precursor							156.0	131.0	139.0					16																	68023977		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68023977G>T	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.967C>A	16.37:g.68023977G>T	ENSP00000458977:p.Pro323Thr					DPEP2_uc002evd.3_Missense_Mutation_p.P323T|DPEP2_uc002eve.2_Missense_Mutation_p.P323T|DPEP2_uc002evf.2_RNA	p.P323T	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	7	1131	-		Ovarian(137;0.192)	323					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.967C>A	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	G	0.364	-0.937538	0.02340	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.22945	1.93;1.93	4.53	0.0716	0.14383	.	1.752050	0.02772	N	0.119763	T	0.18759	0.0450	L	0.31578	0.945	0.49130	D	0.999756	B;B	0.12630	0.004;0.006	B;B	0.19946	0.027;0.015	T	0.19549	-1.0302	10	0.16896	T	0.51	0.936	5.8188	0.18516	0.0923:0.0:0.4123:0.4954	.	323;236	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	T	323;323;236	ENSP00000377430:P323T;ENSP00000412549:P323T	ENSP00000314702:P236T	P	-	1	0	DPEP2	66581478	0.785000	0.28726	0.150000	0.22450	0.092000	0.18411	0.860000	0.27871	0.070000	0.16634	-0.163000	0.13421	CCA		PASS	0.572	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		6	85	6	85	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000420246.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGTAGTTGTAGTGGATGGT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	p.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(1)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM035576	TP53	M		c.(700-702)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							119.0	95.0	103.0					17																	7577580		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577580T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.2_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C	p.Y234C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	895	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	234		Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.701A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		PASS	0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	10	23	10	---	---	---	---
MAP2K3	5606	broad.mit.edu	37	17	21204224	21204224	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr17:21204224G>A	ENST00000342679.4	+	5	567	c.318G>A	c.(316-318)cgG>cgA	p.R106R	MAP2K3_ENST00000316920.6_Silent_p.R77R|MAP2K3_ENST00000361818.5_Silent_p.R77R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R110R(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AGCAGAAGCGGCTGCTCATGG	0.582																																						uc002gys.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(316-318)CGG>CGA		mitogen-activated protein kinase kinase 3							138.0	111.0	120.0					17																	21204224		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21204224G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.318G>A	17.37:g.21204224G>A						MAP2K3_uc002gyt.2_Silent_p.R77R|MAP2K3_uc002gyu.2_Silent_p.R77R	p.R106R	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	5	583	+			106			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.318G>A	CCDS11217.1																																																																																				PASS	0.582	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		5	32	5	32	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35591902	35591902	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr17:35591902G>A	ENST00000394406.2	-	25	3313	c.3123C>T	c.(3121-3123)gtC>gtT	p.V1041V	ACACA_ENST00000353139.5_Silent_p.V1078V|ACACA_ENST00000335166.5_Silent_p.V963V|ACACA_ENST00000360679.3_Silent_p.V983V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1041					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.V983V(1)|p.V1078V(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAAGCATTGTGACCAGAAGAT	0.378																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(3121-3123)GTC>GTT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						186.0	153.0	164.0					17																	35591902		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35591902G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3123C>T	17.37:g.35591902G>A						ACACA_uc002hnk.2_Silent_p.V963V|ACACA_uc002hnl.2_Silent_p.V983V|ACACA_uc002hnn.2_Silent_p.V1041V|ACACA_uc002hno.2_Silent_p.V1078V|ACACA_uc010cuz.2_Silent_p.V1041V	p.V1041V	NM_198836	NP_942133	Q13085	ACACA_HUMAN			25	3314	-		Breast(25;0.00157)|Ovarian(249;0.15)	1041					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.3123C>T	CCDS11317.1																																																																																				PASS	0.378	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		10	38	10	38	---	---	---	---
CACNB1	782	broad.mit.edu	37	17	37333659	37333659	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr17:37333659G>T	ENST00000394303.3	-	13	1483	c.1276C>A	c.(1276-1278)Cgc>Agc	p.R426S	CACNB1_ENST00000344140.5_Missense_Mutation_p.R471S|RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Missense_Mutation_p.R426S	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	426					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R426S(1)|p.R471S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCATGGTGCGGTTCAGCAGC	0.637																																					Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(1276-1278)CGC>AGC		calcium channel, voltage-dependent, beta 1	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						49.0	42.0	45.0					17																	37333659		2203	4300	6503	SO:0001583	missense	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37333659G>T		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1276C>A	17.37:g.37333659G>T	ENSP00000377840:p.Arg426Ser					CACNB1_uc002hrl.1_Missense_Mutation_p.R198S|CACNB1_uc002hrn.2_Missense_Mutation_p.R426S|CACNB1_uc002hro.2_Missense_Mutation_p.R471S	p.R426S	NM_000723	NP_000714	Q02641	CACB1_HUMAN			13	1429	-			426					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	c.1276C>A	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814865	0.90790	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	T;T;T	0.79247	-1.25;-1.17;-1.16	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87087	0.6090	M	0.69823	2.125	0.80722	D	1	D;D;D	0.63880	0.992;0.992;0.993	D;D;D	0.74023	0.979;0.979;0.982	D	0.86468	0.1783	10	0.45353	T	0.12	-14.1383	17.5859	0.87981	0.0:0.0:1.0:0.0	.	471;426;426	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	S	376;426;471;426;377	ENSP00000377840:R426S;ENSP00000345461:R471S;ENSP00000377847:R426S	ENSP00000345461:R471S	R	-	1	0	CACNB1	34587185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.281000	0.65609	2.698000	0.92095	0.563000	0.77884	CGC		PASS	0.637	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			3	3	3	3	---	---	---	---
ITGB3	3690	broad.mit.edu	37	17	45369758	45369758	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr17:45369758G>A	ENST00000559488.1	+	10	1530	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H	ITGB3_ENST00000435993.2_Missense_Mutation_p.R458H|ITGB3_ENST00000560629.1_Silent_p.S493S	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	505	Cysteine-rich tandem repeats.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R458H(1)|p.R505H(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GAGGACTATCGCCCTTCCCAG	0.627																																						uc002ilj.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(1)	6						c.(1513-1515)CGC>CAC		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						96.0	82.0	87.0					17																	45369758		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45369758G>A		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1514G>A	17.37:g.45369758G>A	ENSP00000452786:p.Arg505His					ITGB3_uc010wkr.1_RNA	p.R505H	NM_000212	NP_000203	P05106	ITB3_HUMAN			10	1534	+			505			I.|Extracellular (Potential).|Cysteine-rich tandem repeats.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1514G>A	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221891	0.39300	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.90324	-2.65	5.38	1.08	0.20341	.	0.692467	0.15621	N	0.252910	T	0.75125	0.3807	N	0.12182	0.205	0.22412	N	0.999123	P	0.48764	0.915	B	0.31290	0.127	T	0.67565	-0.5638	10	0.42905	T	0.14	.	8.848	0.35181	0.384:0.0:0.616:0.0	.	505	P05106	ITB3_HUMAN	H	505;458	ENSP00000407801:R458H	ENSP00000262017:R505H	R	+	2	0	C17orf57	42724757	0.000000	0.05858	0.304000	0.25085	0.884000	0.51177	-0.166000	0.09954	0.258000	0.21686	0.462000	0.41574	CGC		PASS	0.627	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		20	27	20	27	---	---	---	---
EFCAB13	124989	broad.mit.edu	37	17	45447834	45447834	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr17:45447834A>G	ENST00000331493.2	+	11	1248	c.837A>G	c.(835-837)atA>atG	p.I279M	EFCAB13_ENST00000517484.1_Missense_Mutation_p.I183M	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	279			I -> V (in dbSNP:rs55853213).			cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.I279M(1)									GGGATATTATATTTACTTTGA	0.299																																						uc002iln.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(835-837)ATA>ATG		hypothetical protein LOC124989							135.0	143.0	140.0					17																	45447834		2203	4298	6501	SO:0001583	missense	124989						calcium ion binding	g.chr17:45447834A>G	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.837A>G	17.37:g.45447834A>G	ENSP00000332111:p.Ile279Met					C17orf57_uc002ilm.2_Missense_Mutation_p.I183M|C17orf57_uc002ill.1_Missense_Mutation_p.I35M|C17orf57_uc010daz.1_Missense_Mutation_p.I231M	p.I279M	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			11	1248	+			279					G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.837A>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920567	0.52653	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.69435	0.69;-0.4	3.86	2.77	0.32553	EF-hand-like domain (1);	0.289542	0.24573	N	0.037371	T	0.67211	0.2869	L	0.48642	1.525	0.22842	N	0.998669	D;D;D	0.61697	0.964;0.99;0.971	P;P;P	0.57152	0.745;0.814;0.714	T	0.58008	-0.7712	10	0.87932	D	0	-4.0559	5.8714	0.18805	0.8762:0.0:0.1238:0.0	.	231;279;183	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	M	279;183;231	ENSP00000332111:I279M;ENSP00000430048:I183M	ENSP00000332111:I279M	I	+	3	3	C17orf57	42802833	1.000000	0.71417	0.400000	0.26346	0.317000	0.28152	3.502000	0.53332	0.634000	0.30469	0.482000	0.46254	ATA		PASS	0.299	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		13	28	13	28	---	---	---	---
KCNJ16	3773	broad.mit.edu	37	17	68129006	68129006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr17:68129006G>T	ENST00000589377.1	+	2	941	c.778G>T	c.(778-780)Gag>Tag	p.E260*	KCNJ16_ENST00000585558.1_Nonsense_Mutation_p.E295*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.E299*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.E260*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.E260*|KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.E260*	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	260					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.E260Q(1)|p.E260*(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AATTGACCATGAGAGCCCTCT	0.438																																						uc002jin.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(778-780)GAG>TAG		potassium inwardly-rectifying channel J16							135.0	127.0	130.0					17																	68129006		2203	4300	6503	SO:0001587	stop_gained	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129006G>T	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.778G>T	17.37:g.68129006G>T	ENSP00000465967:p.Glu260*					KCNJ16_uc002jio.2_Nonsense_Mutation_p.E260*|KCNJ16_uc002jip.2_Nonsense_Mutation_p.E260*|KCNJ16_uc002jiq.2_Nonsense_Mutation_p.E292*	p.E260*	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	1264	+	Breast(10;2.96e-09)		260			Cytoplasmic (By similarity).			Nonsense_Mutation	SNP	ENST00000589377.1	37	c.778G>T	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	G	37	6.008455	0.97195	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	.	.	.	5.74	5.74	0.90152	.	0.198144	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5131	0.95153	0.0:0.0:1.0:0.0	.	.	.	.	X	260	.	.	E	+	1	0	KCNJ16	65640601	1.000000	0.71417	0.960000	0.40013	0.019000	0.09904	3.820000	0.55693	2.706000	0.92434	0.650000	0.86243	GAG		PASS	0.438	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		6	124	6	124	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73736921	73736921	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr17:73736921G>T	ENST00000200181.3	+	22	2785	c.2598G>T	c.(2596-2598)caG>caT	p.Q866H	ITGB4_ENST00000339591.3_Missense_Mutation_p.Q866H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Q866H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.Q866H|ITGB4_ENST00000579662.1_Missense_Mutation_p.Q866H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	866					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.Q866H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTCCAGCAGACCAAGTTCC	0.682																																						uc002jpg.2																			1	Substitution - Missense(1)		lung(1)	lung(4)	4						c.(2596-2598)CAG>CAT		integrin beta 4 isoform 1 precursor							57.0	58.0	58.0					17																	73736921		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73736921G>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2598G>T	17.37:g.73736921G>T	ENSP00000200181:p.Gln866His					ITGB4_uc002jph.2_Missense_Mutation_p.Q866H|ITGB4_uc010dgo.2_Missense_Mutation_p.Q866H|ITGB4_uc002jpi.3_Missense_Mutation_p.Q866H|ITGB4_uc010dgp.1_Missense_Mutation_p.D879Y|ITGB4_uc002jpj.2_Missense_Mutation_p.Q866H	p.Q866H	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		22	2785	+	all_cancers(13;1.5e-07)		866			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.2598G>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777851	0.31502	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.76060	-0.99;-0.92;-0.92	5.07	-4.55	0.03441	.	0.505319	0.21398	N	0.075192	T	0.51517	0.1679	N	0.24115	0.695	0.39841	D	0.973111	B;B;B	0.19331	0.035;0.011;0.021	B;B;B	0.16289	0.015;0.007;0.007	T	0.04294	-1.0962	10	0.87932	D	0	.	5.7073	0.17915	0.1227:0.4097:0.3624:0.1052	.	866;866;866	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	H	866	ENSP00000200181:Q866H;ENSP00000344079:Q866H;ENSP00000400217:Q866H	ENSP00000200181:Q866H	Q	+	3	2	ITGB4	71248516	0.999000	0.42202	0.245000	0.24217	0.905000	0.53344	0.356000	0.20181	-0.779000	0.04560	-0.304000	0.09214	CAG		PASS	0.682	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			12	45	12	45	---	---	---	---
QRICH2	84074	broad.mit.edu	37	17	74287768	74287768	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr17:74287768G>T	ENST00000262765.5	-	4	2721	c.2542C>A	c.(2542-2544)Cct>Act	p.P848T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	848								p.P848T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCTCTGCCAGGAGGTACCATA	0.473																																						uc002jrd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(2542-2544)CCT>ACT		glutamine rich 2							123.0	114.0	117.0					17																	74287768		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74287768G>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2542C>A	17.37:g.74287768G>T	ENSP00000262765:p.Pro848Thr					QRICH2_uc010wsz.1_Missense_Mutation_p.P774T|QRICH2_uc010dgw.1_Intron	p.P848T	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	2722	-			848					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.2542C>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381445	0.42207	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09350	2.99	4.92	4.92	0.64577	.	.	.	.	.	T	0.21841	0.0526	L	0.34521	1.04	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.67548	0.935;0.952	T	0.05971	-1.0853	9	0.49607	T	0.09	-0.789	13.9701	0.64235	0.0:0.0:1.0:0.0	.	848;848	B5MD94;Q9H0J4	.;QRIC2_HUMAN	T	848	ENSP00000262765:P848T	ENSP00000262765:P848T	P	-	1	0	QRICH2	71799363	0.000000	0.05858	0.078000	0.20375	0.445000	0.32107	0.647000	0.24812	2.431000	0.82371	0.448000	0.29417	CCT		PASS	0.473	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		5	64	5	64	---	---	---	---
MRPL12	6182	broad.mit.edu	37	17	79671373	79671373	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr17:79671373G>T	ENST00000333676.3	+	2	319	c.174G>T	c.(172-174)aaG>aaT	p.K58N	SLC25A10_ENST00000571730.1_Missense_Mutation_p.K58N|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000541223.1_Missense_Mutation_p.K58N	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	58					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K58N(1)		breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACGCCCCCAAGGAGTACCCCC	0.602																																						uc010wut.1																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)AAG>AAT		solute carrier family 25 (mitochondrial carrier;	Succinic acid(DB00139)						69.0	61.0	63.0					17																	79671373		2203	4300	6503	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79671373G>T	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.174G>T	17.37:g.79671373G>T	ENSP00000333837:p.Lys58Asn					MRPL12_uc002kbh.1_Missense_Mutation_p.K58N	p.K58N	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		2	299	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		Error:Variant_position_missing_in_Q9UBX3_after_alignment					Q969U0|Q9HCA2|Q9UQJ3	Missense_Mutation	SNP	ENST00000333676.3	37	c.174G>T	CCDS11785.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241876	0.79912	.	.	ENSG00000183048	ENST00000541223;ENST00000333676;ENST00000332396	T;T	0.81330	-1.48;0.8	4.89	0.482	0.16815	.	0.000000	0.85682	D	0.000000	D	0.87826	0.6275	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.941;0.987	D	0.86618	0.1877	10	0.62326	D	0.03	-5.8917	10.1217	0.42625	0.3473:0.0:0.6527:0.0	.	58;58	B4DLN1;P52815	.;RM12_HUMAN	N	58	ENSP00000439565:K58N;ENSP00000333837:K58N	ENSP00000330017:K58N	K	+	3	2	SLC25A10	77281778	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	1.207000	0.32333	0.262000	0.21774	0.655000	0.94253	AAG		PASS	0.602	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440812.1	NM_002949		7	17	7	17	---	---	---	---
NDC80	10403	broad.mit.edu	37	18	2577814	2577814	+	Silent	SNP	G	G	T	rs148077669		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr18:2577814G>T	ENST00000261597.4	+	4	431	c.249G>T	c.(247-249)ccG>ccT	p.P83P		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	83	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.P83P(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TCAAGGACCCGAGACCACTTA	0.363																																						uc002kli.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(247-249)CCG>CCT		kinetochore associated 2							90.0	89.0	90.0					18																	2577814		2203	4300	6503	SO:0001819	synonymous_variant	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2577814G>T	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.249G>T	18.37:g.2577814G>T							p.P83P	NM_006101	NP_006092	O14777	NDC80_HUMAN			4	431	+			83			Interaction with the N-terminus of CDCA1.|Nuclear localization.		Q6PJX2	Silent	SNP	ENST00000261597.4	37	c.249G>T	CCDS11827.1																																																																																				PASS	0.363	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		5	76	5	76	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21422480	21422480	+	Missense_Mutation	SNP	G	G	T	rs549221489	byFrequency	TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr18:21422480G>T	ENST00000313654.9	+	28	3699	c.3458G>T	c.(3457-3459)cGg>cTg	p.R1153L	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1153L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1153	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R1153L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGGTGGCCACGGGCAGGTGAG	0.607																																						uc002kuq.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3457-3459)CGG>CTG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						58.0	63.0	61.0					18																	21422480		2106	4222	6328	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21422480G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3458G>T	18.37:g.21422480G>T	ENSP00000324532:p.Arg1153Leu					LAMA3_uc002kur.2_Missense_Mutation_p.R1153L	p.R1153L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			28	3544	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1153			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.3458G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709333	0.48517	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.17054	2.32;2.3	5.38	1.34	0.21922	.	.	.	.	.	T	0.10852	0.0265	L	0.36672	1.1	0.38539	D	0.94917	B;B	0.28998	0.23;0.19	B;B	0.23716	0.041;0.048	T	0.17048	-1.0382	9	0.41790	T	0.15	.	4.2993	0.10916	0.1409:0.1238:0.6072:0.1281	.	1153;1153	Q6VU67;Q16787	.;LAMA3_HUMAN	L	1153;1153;1151	ENSP00000324532:R1153L;ENSP00000382432:R1153L	ENSP00000324532:R1153L	R	+	2	0	LAMA3	19676478	1.000000	0.71417	0.000000	0.03702	0.264000	0.26372	2.654000	0.46699	-0.040000	0.13580	0.655000	0.94253	CGG		PASS	0.607	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		16	34	16	34	---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60223502	60223502	+	Silent	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr18:60223502C>T	ENST00000269499.5	+	6	1798	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S	ZCCHC2_ENST00000586834.1_Silent_p.S139S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	460						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.S460S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCTTTCAGTCCATATCATCAG	0.358																																						uc002lip.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)|prostate(1)	2						c.(1378-1380)TCC>TCT		zinc finger, CCHC domain containing 2							129.0	115.0	119.0					18																	60223502		1873	4104	5977	SO:0001819	synonymous_variant	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60223502C>T	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.1380C>T	18.37:g.60223502C>T						ZCCHC2_uc002lio.2_RNA	p.S460S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			6	1380	+			460					B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	c.1380C>T	CCDS45880.1																																																																																				PASS	0.358	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		9	23	9	23	---	---	---	---
LRG1	116844	broad.mit.edu	37	19	4538521	4538521	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:4538521A>C	ENST00000306390.6	-	2	935	c.475T>G	c.(475-477)Tgg>Ggg	p.W159G	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	159					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.W159G(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGTAGCCACGAGACCTCC	0.652																																						uc002mau.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(475-477)TGG>GGG		leucine-rich alpha-2-glycoprotein 1 precursor							52.0	57.0	55.0					19																	4538521		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538521A>C		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.475T>G	19.37:g.4538521A>C	ENSP00000302621:p.Trp159Gly					PLIN5_uc002mat.1_Intron	p.W159G	NM_052972	NP_443204	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	486	-		Hepatocellular(1079;0.137)	159			LRR 3.		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.475T>G	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	10.29	1.310645	0.23821	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.56776	0.44	4.71	3.65	0.41850	.	0.000000	0.38005	N	0.001846	T	0.28267	0.0698	N	0.04116	-0.275	0.23946	N	0.99639	B	0.26195	0.144	B	0.24701	0.055	T	0.19289	-1.0310	10	0.56958	D	0.05	-18.6714	8.0444	0.30540	0.7933:0.2067:0.0:0.0	.	159	P02750	A2GL_HUMAN	G	159;142	ENSP00000302621:W159G	ENSP00000302621:W159G	W	-	1	0	LRG1	4489521	0.001000	0.12720	0.705000	0.30386	0.050000	0.14768	0.160000	0.16462	0.787000	0.33731	0.533000	0.62120	TGG		PASS	0.652	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		29	41	29	41	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9025609	9025609	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:9025609C>A	ENST00000397910.4	-	15	37048	c.36845G>T	c.(36844-36846)tGc>tTc	p.C12282F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12284	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.C12282F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCAATCTGCAGCCAGAGTA	0.512																																						uc002mkp.2																			1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36844-36846)TGC>TTC		mucin 16							116.0	104.0	108.0					19																	9025609		1959	4158	6117	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9025609C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36845G>T	19.37:g.9025609C>A	ENSP00000381008:p.Cys12282Phe						p.C12282F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			15	37049	-			12284			SEA 2.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36845G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.845	0.943267	0.18281	.	.	ENSG00000181143	ENST00000397910	T	0.27720	1.65	2.81	2.81	0.32909	.	.	.	.	.	T	0.57592	0.2064	M	0.89214	3.015	.	.	.	D	0.69078	0.997	D	0.85130	0.997	T	0.71038	-0.4708	8	0.87932	D	0	.	9.2535	0.37568	0.0:1.0:0.0:0.0	.	12282	B5ME49	.	F	12282	ENSP00000381008:C12282F	ENSP00000381008:C12282F	C	-	2	0	MUC16	8886609	0.895000	0.30542	0.286000	0.24833	0.021000	0.10359	1.776000	0.38594	1.862000	0.54008	0.205000	0.17691	TGC		PASS	0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	63	24	63	---	---	---	---
CALR	811	broad.mit.edu	37	19	13051633	13051633	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:13051633G>T	ENST00000316448.5	+	7	965	c.892G>T	c.(892-894)Gag>Tag	p.E298*		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	298	P-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.E298*(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	TGACAACCCCGAGTATTCTCC	0.542																																						uc002mvu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(892-894)GAG>TAG		calreticulin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						118.0	118.0	118.0					19																	13051633		2203	4300	6503	SO:0001587	stop_gained	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13051633G>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.892G>T	19.37:g.13051633G>T	ENSP00000320866:p.Glu298*					CALR_uc002mvv.2_5'Flank	p.E298*	NM_004343	NP_004334	P27797	CALR_HUMAN			7	972	+			298			P-domain.		Q6IAT4|Q9UDG2	Nonsense_Mutation	SNP	ENST00000316448.5	37	c.892G>T	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238018	0.79800	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-37.8988	17.675	0.88228	0.0:0.0:1.0:0.0	.	.	.	.	X	298;177	.	ENSP00000320866:E298X	E	+	1	0	CALR	12912633	1.000000	0.71417	0.989000	0.46669	0.059000	0.15707	5.528000	0.67129	2.456000	0.83038	0.557000	0.71058	GAG		PASS	0.542	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		4	56	4	56	---	---	---	---
INSL3	3640	broad.mit.edu	37	19	17927797	17927797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:17927797C>A	ENST00000317306.7	-	2	278	c.262G>T	c.(262-264)Gga>Tga	p.G88*	INSL3_ENST00000379695.5_Missense_Mutation_p.W119C	NM_005543.3	NP_005534.2	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	88					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)	insulin receptor binding (GO:0005158)|protease binding (GO:0002020)|receptor binding (GO:0005102)	p.G88*(1)		breast(1)|lung(1)	2						AGGCCAGGTCCCAGCGTGAGA	0.622																																						uc002nhm.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(262-264)GGA>TGA		insulin-like 3 precursor							97.0	78.0	84.0					19																	17927797		2203	4300	6503	SO:0001587	stop_gained	3640				cell-cell signaling|spermatogenesis	soluble fraction	hormone activity|insulin receptor binding|signal transducer activity	g.chr19:17927797C>A		CCDS12365.1, CCDS58655.1	19p13.2-p12	2013-02-26	2003-05-13			ENSG00000248099		"""Endogenous ligands"""	6086	protein-coding gene	gene with protein product	"""prepro-INSL3"""	146738	"""relaxin-like factor"""	RLNL		8020942	Standard	NM_001265587		Approved	RLF, MGC119818, MGC119819	uc010ebf.2	P51460		ENST00000317306.7:c.262G>T	19.37:g.17927797C>A	ENSP00000321724:p.Gly88*					INSL3_uc010ebf.1_Missense_Mutation_p.W119C|INSL3_uc010ebg.1_RNA	p.G88*	NM_005543	NP_005534	P51460	INSL3_HUMAN			2	267	-			88					B4DZ72|G3XAG0|Q3KPI5|Q3KPI6|Q6YNB5|Q9UEA2|Q9UPH6	Nonsense_Mutation	SNP	ENST00000317306.7	37	c.262G>T	CCDS12365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.01|12.01	1.808247|1.808247	0.31961|0.31961	.|.	.|.	ENSG00000248099|ENSG00000248099	ENST00000317306|ENST00000379695	.|T	.|0.61040	.|0.14	3.23|3.23	2.17|2.17	0.27698|0.27698	.|.	.|1.024520	.|0.07837	.|U	.|0.962313	.|T	.|0.44498	.|0.1296	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.23891	.|0.093	.|B	.|0.20184	.|0.028	.|T	.|0.32375	.|-0.9909	.|9	0.39692|0.36615	T|T	0.17|0.2	.|.	8.1437|8.1437	0.31100|0.31100	0.0:0.7508:0.2492:0.0|0.0:0.7508:0.2492:0.0	.|.	.|119	.|G3XAG0	.|.	X|C	88|119	.|ENSP00000369017:W119C	ENSP00000321724:G88X|ENSP00000369017:W119C	G|W	-|-	1|3	0|0	INSL3|INSL3	17788797|17788797	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.012000|0.012000	0.07955|0.07955	0.474000|0.474000	0.22148|0.22148	0.575000|0.575000	0.29434|0.29434	0.449000|0.449000	0.29647|0.29647	GGA|TGG		PASS	0.622	INSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466836.1	NM_005543		8	18	8	18	---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	17983413	17983413	+	Silent	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:17983413T>A	ENST00000222248.3	+	1	632	c.285T>A	c.(283-285)ctT>ctA	p.L95L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	95					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.L95L(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGGCCAGCTTCTGAACTCGG	0.652																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(283-285)CTT>CTA		solute carrier family 5 (sodium iodide							81.0	73.0	75.0					19																	17983413		2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17983413T>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.285T>A	19.37:g.17983413T>A							p.L95L	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			1	632	+			95			Helical; (Potential).		O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.285T>A	CCDS12368.1																																																																																				PASS	0.652	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			10	4	10	4	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19337671	19337671	+	Silent	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:19337671C>T	ENST00000252575.6	+	7	1548	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	483					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.F483F(1)|p.F497F(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGGGGCGCTTCAAAGGGTTGA	0.672																																						uc002nlz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(1447-1449)TTC>TTT		chondroitin sulfate proteoglycan 3 precursor							28.0	30.0	30.0					19																	19337671		2202	4295	6497	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337671C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1449C>T	19.37:g.19337671C>T						NCAN_uc010ecc.1_Silent_p.F47F	p.F483F	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1548	+			483					Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.1449C>T	CCDS12397.1																																																																																				PASS	0.672	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		17	20	17	20	---	---	---	---
ZNF14	7561	broad.mit.edu	37	19	19823162	19823162	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:19823162T>C	ENST00000344099.3	-	4	1066	c.928A>G	c.(928-930)Aaa>Gaa	p.K310E		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	310					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.K310E(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				CCACATTCTTTACATTCATAG	0.378																																						uc002nnk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(928-930)AAA>GAA		zinc finger protein 14							44.0	44.0	44.0					19																	19823162		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19823162T>C	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.928A>G	19.37:g.19823162T>C	ENSP00000340514:p.Lys310Glu						p.K310E	NM_021030	NP_066358	P17017	ZNF14_HUMAN			4	1082	-		Renal(1328;0.0474)	310			C2H2-type 8.		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.928A>G	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723492	0.68959	.	.	ENSG00000105708	ENST00000344099	T	0.07567	3.18	1.8	1.8	0.24995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	N	0.17248	0.465	0.09310	N	1	P	0.49307	0.922	P	0.48598	0.583	T	0.32025	-0.9922	9	0.28530	T	0.3	.	3.5412	0.07812	0.0:0.2149:0.0:0.7851	.	310	P17017	ZNF14_HUMAN	E	310	ENSP00000340514:K310E	ENSP00000340514:K310E	K	-	1	0	ZNF14	19684162	0.000000	0.05858	0.354000	0.25760	0.956000	0.61745	-4.561000	0.00215	0.811000	0.34303	0.383000	0.25322	AAA		PASS	0.378	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		10	30	10	30	---	---	---	---
ZNF431	170959	broad.mit.edu	37	19	21366712	21366712	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:21366712A>G	ENST00000311048.7	+	5	1750	c.1606A>G	c.(1606-1608)Aga>Gga	p.R536G	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	536					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.R536G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AATTCATACTAGACAGAAACC	0.318																																						uc002npp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1606-1608)AGA>GGA		zinc finger protein 431							66.0	74.0	72.0					19																	21366712		2203	4300	6503	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366712A>G	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1606A>G	19.37:g.21366712A>G	ENSP00000308578:p.Arg536Gly					ZNF431_uc010ecq.2_Missense_Mutation_p.R445G|ZNF431_uc010ecr.2_Missense_Mutation_p.R537G	p.R536G	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN			5	1753	+			536					A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.1606A>G	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.855184	0.00558	.	.	ENSG00000196705	ENST00000311048	T	0.00617	6.19	0.421	-0.841	0.10752	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00241	0.0007	N	0.00483	-1.445	0.25271	N	0.989511	B	0.02656	0.0	B	0.01281	0.0	T	0.39461	-0.9613	9	0.02654	T	1	.	6.0295	0.19673	0.2338:0.0:0.7662:0.0	.	536	Q8TF32	ZN431_HUMAN	G	536	ENSP00000308578:R536G	ENSP00000308578:R536G	R	+	1	2	ZNF431	21158552	0.035000	0.19736	0.031000	0.17742	0.027000	0.11550	1.592000	0.36676	-0.617000	0.05664	-0.640000	0.03970	AGA		PASS	0.318	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		7	59	7	59	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154642	22154642	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:22154642G>T	ENST00000397126.4	-	4	3342	c.3194C>A	c.(3193-3195)gCc>gAc	p.A1065D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1065					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A937D(2)|p.A1065D(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCAGCTGAAGGCTTTGCCACA	0.463																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2809-2811)GCC>GAC		zinc finger protein 208							130.0	131.0	131.0					19																	22154642		2134	4248	6382	SO:0001583	missense	7757							g.chr19:22154642G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3194C>A	19.37:g.22154642G>T	ENSP00000380315:p.Ala1065Asp					ZNF208_uc002nqo.1_Intron	p.A937D	NM_007153	NP_009084					6	2959	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2810C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826763	0.32329	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.20069	2.1	2.59	-1.56	0.08532	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	.	.	.	0.09310	N	1	B	0.28713	0.22	B	0.25884	0.064	T	0.27054	-1.0085	8	0.52906	T	0.07	.	0.5838	0.00716	0.3534:0.1716:0.3007:0.1742	.	937	O43345	ZN208_HUMAN	D	1065;937	ENSP00000380315:A1065D	ENSP00000380315:A1065D	A	-	2	0	ZNF208	21946482	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.357000	0.07651	-0.817000	0.04335	-0.749000	0.03505	GCC		PASS	0.463	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		15	61	15	61	---	---	---	---
ZNF461	92283	broad.mit.edu	37	19	37149214	37149214	+	Silent	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:37149214G>A	ENST00000588268.1	-	3	350	c.123C>T	c.(121-123)aaC>aaT	p.N41N	ZNF461_ENST00000360357.4_Silent_p.N41N	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N41N(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTGACACCAAGTTGCTATAAT	0.413																																						uc002oem.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(121-123)AAC>AAT		gonadotropin inducible transcription repressor							47.0	46.0	46.0					19																	37149214		2099	4258	6357	SO:0001819	synonymous_variant	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37149214G>A	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.123C>T	19.37:g.37149214G>A						ZNF461_uc002oen.2_Intron|ZNF461_uc010xtj.1_Silent_p.N41N	p.N41N	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	351	-	Esophageal squamous(110;0.198)		41			KRAB.		A8K9W9|Q6VSF7|Q9ULZ8	Silent	SNP	ENST00000588268.1	37	c.123C>T	CCDS54257.1																																																																																				PASS	0.413	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		5	15	5	15	---	---	---	---
TTC9B	148014	broad.mit.edu	37	19	40722081	40722081	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:40722081C>T	ENST00000311308.6	-	3	726	c.709G>A	c.(709-711)Gta>Ata	p.V237I		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	237					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.V237I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CAGCCAATTACATCCCGAGTC	0.557																																						uc002onc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)GTA>ATA		tetratricopeptide repeat domain 9B							123.0	98.0	107.0					19																	40722081		2203	4300	6503	SO:0001583	missense	148014						binding	g.chr19:40722081C>T	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.709G>A	19.37:g.40722081C>T	ENSP00000311760:p.Val237Ile						p.V237I	NM_152479	NP_689692	Q8N6N2	TTC9B_HUMAN			3	727	-			237					A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	37	c.709G>A	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	c	18.83	3.707839	0.68615	.	.	ENSG00000174521	ENST00000311308	T	0.34472	1.36	4.23	4.23	0.50019	.	0.337740	0.16246	U	0.222907	T	0.31167	0.0788	L	0.44542	1.39	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.13683	-1.0500	10	0.36615	T	0.2	-5.9291	12.1367	0.53974	0.0:1.0:0.0:0.0	.	237	Q8N6N2	TTC9B_HUMAN	I	237	ENSP00000311760:V237I	ENSP00000311760:V237I	V	-	1	0	TTC9B	45413921	0.815000	0.29118	0.135000	0.22099	0.307000	0.27823	2.618000	0.46393	1.916000	0.55485	0.556000	0.70494	GTA		PASS	0.557	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479		13	47	13	47	---	---	---	---
AKT2	208	broad.mit.edu	37	19	40747908	40747908	+	Silent	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:40747908C>A	ENST00000392038.2	-	6	808	c.510G>T	c.(508-510)cgG>cgT	p.R170R	AKT2_ENST00000424901.1_Silent_p.R170R|AKT2_ENST00000311278.6_Silent_p.R170R|AKT2_ENST00000579047.1_Silent_p.R108R	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.R170R(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGGCCTTCTCCCGCACCAGGA	0.582			A		"""ovarian, pancreatic """																																	uc002onf.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			ovarian|pancreatic 		1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(508-510)CGG>CGT		AKT2 kinase							86.0	70.0	75.0					19																	40747908		2203	4300	6503	SO:0001819	synonymous_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40747908C>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.510G>T	19.37:g.40747908C>A						AKT2_uc010egs.2_Silent_p.R170R|AKT2_uc010egt.2_Silent_p.R108R|AKT2_uc010xvj.1_Silent_p.R108R|AKT2_uc010egu.1_Silent_p.R108R|AKT2_uc010xvk.1_Silent_p.R170R|AKT2_uc002one.2_Silent_p.R66R	p.R170R	NM_001626	NP_001617	P31751	AKT2_HUMAN	Lung(22;0.000499)		6	772	-			170			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	c.510G>T	CCDS12552.1																																																																																				PASS	0.582	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		15	25	15	25	---	---	---	---
CEACAM16	388551	broad.mit.edu	37	19	45207358	45207358	+	Silent	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:45207358T>A	ENST00000405314.2	+	3	550	c.453T>A	c.(451-453)ctT>ctA	p.L151L	CEACAM16_ENST00000587331.1_Silent_p.L151L|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	151	Ig-like C2-type 1.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)		p.L216L(2)		endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CCCTGCGCCTTATGTGCAGCA	0.697																																						uc010xxd.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(451-453)CTT>CTA		carcinoembryonic antigen-related cell adhesion							15.0	20.0	18.0					19																	45207358		2013	4150	6163	SO:0001819	synonymous_variant	388551							g.chr19:45207358T>A		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.453T>A	19.37:g.45207358T>A						CEACAM16_uc002ozq.2_Silent_p.L210L	p.L151L	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN			4	659	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	151					A7LI12	Silent	SNP	ENST00000405314.2	37	c.453T>A	CCDS54278.1																																																																																				PASS	0.697	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		5	6	5	6	---	---	---	---
TOMM40	10452	broad.mit.edu	37	19	45396132	45396132	+	Silent	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:45396132C>A	ENST00000426677.2	+	3	561	c.381C>A	c.(379-381)tcC>tcA	p.S127S	TOMM40_ENST00000252487.5_Silent_p.S127S|TOMM40_ENST00000592434.1_Silent_p.S127S|TOMM40_ENST00000405636.2_Silent_p.S127S|CTB-129P6.4_ENST00000585408.1_RNA	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	127					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)	p.S127S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		TCGGGGAGTCCAACTACCACT	0.502																																						uc002ozx.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(379-381)TCC>TCA		translocase of outer mitochondrial membrane 40							97.0	79.0	85.0					19																	45396132		2203	4300	6503	SO:0001819	synonymous_variant	10452				protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity	g.chr19:45396132C>A	AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.381C>A	19.37:g.45396132C>A						TOMM40_uc002ozy.3_Silent_p.S127S|TOMM40_uc002paa.3_Silent_p.S127S|TOMM40_uc002ozz.2_Silent_p.S127S	p.S127S	NM_006114	NP_006105	O96008	TOM40_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)	4	482	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)		127					Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Silent	SNP	ENST00000426677.2	37	c.381C>A	CCDS12646.1																																																																																				PASS	0.502	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			4	37	4	37	---	---	---	---
ZNF611	81856	broad.mit.edu	37	19	53209454	53209454	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:53209454T>C	ENST00000319783.1	-	7	1170	c.854A>G	c.(853-855)aAa>aGa	p.K285R	ZNF611_ENST00000602162.1_Missense_Mutation_p.K216R|ZNF611_ENST00000595798.1_Missense_Mutation_p.K216R|ZNF611_ENST00000540744.1_Missense_Mutation_p.K285R|ZNF611_ENST00000453741.2_Missense_Mutation_p.K216R|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000543227.1_Missense_Mutation_p.K285R	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	285					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.K285R(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CTTGTAAGGTTTCTCAACAGT	0.408																																						uc002pzz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(853-855)AAA>AGA		zinc finger protein 611 isoform a							179.0	170.0	173.0					19																	53209454		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209454T>C	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.854A>G	19.37:g.53209454T>C	ENSP00000322427:p.Lys285Arg					ZNF611_uc010eqc.2_Missense_Mutation_p.K215R|ZNF611_uc010ydo.1_Missense_Mutation_p.K215R|ZNF611_uc010ydr.1_Missense_Mutation_p.K216R|ZNF611_uc010ydp.1_Missense_Mutation_p.K285R|ZNF611_uc010ydq.1_Missense_Mutation_p.K285R|ZNF611_uc002qaa.3_Missense_Mutation_p.K215R	p.K285R	NM_030972	NP_112234	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	7	1171	-			285					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.854A>G	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	13.64	2.298011	0.40694	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	1.66	0.577	0.17385	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25494	0.0620	L	0.41236	1.265	0.20196	N	0.999927	P	0.46578	0.88	P	0.50109	0.631	T	0.12682	-1.0538	9	0.56958	D	0.05	.	4.5768	0.12238	0.0:0.3582:0.0:0.6418	.	285	Q8N823	ZN611_HUMAN	R	285;285;216;285	ENSP00000437616:K285R;ENSP00000439211:K285R;ENSP00000443505:K216R;ENSP00000322427:K285R	ENSP00000322427:K285R	K	-	2	0	ZNF611	57901266	0.000000	0.05858	0.230000	0.23976	0.045000	0.14185	-0.114000	0.10757	0.755000	0.32990	0.163000	0.16589	AAA		PASS	0.408	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		44	72	44	72	---	---	---	---
MIR518D	574489	broad.mit.edu	37	19	54238188	54238188	+	RNA	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:54238188C>T	ENST00000385014.1	+	0	58				MIR516B1_ENST00000385211.1_RNA|RNU6-980P_ENST00000516925.1_RNA	NR_030211.1				microRNA 518d																		GAAACCAAAGCGCTTCCCTTT	0.438																																						hsa-mir-518d|MI0003171																			0					0															97.0	92.0	94.0					19																	54238188		1568	3582	5150			574489							g.chr19:54238188C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207747	ENSG00000207747		"""ncRNAs / Micro RNAs"""	32121	non-coding RNA	RNA, micro				MIRN518D			Standard	NR_030211		Approved	hsa-mir-518d	uc021vao.1				19.37:g.54238188C>T						MIR516B1_hsa-mir-516b-1|MI0003172_5'Flank										+									RNA	SNP	ENST00000385014.1	37	c.58C>T																																																																																					PASS	0.438	MIR518D-201	KNOWN	basic	miRNA	miRNA		NR_030211		16	80	16	80	---	---	---	---
CACNG8	59283	broad.mit.edu	37	19	54466592	54466592	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:54466592C>A	ENST00000270458.2	+	1	299	c.196C>A	c.(196-198)Ccc>Acc	p.P66T		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	66					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.P66T(1)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGACGGGACCCCCCACCGCGG	0.706																																						uc002qcs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)CCC>ACC		voltage-dependent calcium channel gamma-8							15.0	17.0	16.0					19																	54466592		2192	4283	6475	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54466592C>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.196C>A	19.37:g.54466592C>A	ENSP00000270458:p.Pro66Thr						p.P65T	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	1	299	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		66					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.193C>A	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890563	0.33348	.	.	ENSG00000142408	ENST00000270458	T	0.42513	0.97	3.66	2.57	0.30868	.	.	.	.	.	T	0.30727	0.0774	N	0.22421	0.69	0.29994	N	0.816581	P	0.41498	0.752	B	0.41988	0.372	T	0.41716	-0.9493	8	0.66056	D	0.02	-13.8231	9.0872	0.36587	0.0:0.7736:0.2264:0.0	.	66	Q8WXS5	CCG8_HUMAN	T	66	ENSP00000270458:P66T	ENSP00000270458:P66T	P	+	1	0	CACNG8	59158404	0.000000	0.05858	0.194000	0.23346	0.659000	0.38960	0.214000	0.17541	0.629000	0.30376	0.297000	0.19635	CCC		PASS	0.706	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			5	4	5	4	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54760477	54760477	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr19:54760477G>T	ENST00000316219.5	-	3	337	c.230C>A	c.(229-231)cCt>cAt	p.P77H	LILRB5_ENST00000449561.2_Missense_Mutation_p.P77H|LILRB5_ENST00000345866.6_Missense_Mutation_p.P77H|LILRB5_ENST00000450632.1_Missense_Mutation_p.P77H	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	77	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.P77H(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTTGGCTCCAGGCTCCAGTGG	0.612																																						uc002qex.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(229-231)CCT>CAT		leukocyte immunoglobulin-like receptor,							225.0	214.0	218.0					19																	54760477		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760477G>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.230C>A	19.37:g.54760477G>T	ENSP00000320390:p.Pro77His					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.P77H|LILRB5_uc002qey.2_Missense_Mutation_p.P77H|LILRB5_uc002qez.2_Missense_Mutation_p.P77H|LILRB5_uc002qfa.1_Missense_Mutation_p.P67H|LILRB5_uc010yes.1_RNA	p.P77H	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	341	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		77			Ig-like C2-type 1.|Extracellular (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.230C>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	8.616	0.890319	0.17613	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	3.29	0.947	0.19555	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.606810	0.14770	N	0.299457	T	0.20414	0.0491	L	0.42487	1.325	0.09310	N	1	D;P;P;D;D	0.89917	0.999;0.949;0.908;1.0;0.998	D;B;B;D;D	0.72338	0.941;0.171;0.096;0.977;0.953	T	0.05666	-1.0871	10	0.62326	D	0.03	.	7.867	0.29543	0.0:0.0:0.5519:0.4481	.	77;68;77;77;77	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	H	77	ENSP00000320390:P77H;ENSP00000414225:P77H;ENSP00000406478:P77H;ENSP00000263430:P77H	ENSP00000320390:P77H	P	-	2	0	LILRB5	59452289	0.005000	0.15991	0.001000	0.08648	0.004000	0.04260	1.577000	0.36515	0.186000	0.20125	-0.302000	0.09304	CCT		PASS	0.612	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			38	115	38	115	---	---	---	---
ATRN	8455	broad.mit.edu	37	20	3578558	3578558	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr20:3578558C>G	ENST00000262919.5	+	22	3543	c.3475C>G	c.(3475-3477)Ctt>Gtt	p.L1159V	ATRN_ENST00000446916.2_Missense_Mutation_p.L1159V	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1159					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.L1159V(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CATAGATACTCTTCTTATTGA	0.328																																						uc002wim.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(3475-3477)CTT>GTT		attractin isoform 1							157.0	147.0	150.0					20																	3578558		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3578558C>G	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3475C>G	20.37:g.3578558C>G	ENSP00000262919:p.Leu1159Val					ATRN_uc002wil.2_Missense_Mutation_p.L1159V	p.L1159V	NM_139321	NP_647537	O75882	ATRN_HUMAN			22	3565	+			1159			Extracellular (Potential).		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.3475C>G	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405518	0.83230	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.08193	3.12;3.18	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.71674	0.995;0.998	P;D	0.83275	0.896;0.996	T	0.00015	-1.2391	10	0.54805	T	0.06	-16.0211	13.6552	0.62333	0.0:0.9294:0.0:0.0706	.	1159;1159	O75882;O75882-2	ATRN_HUMAN;.	V	1159;1159;1085	ENSP00000262919:L1159V;ENSP00000416587:L1159V	ENSP00000262919:L1159V	L	+	1	0	ATRN	3526558	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.040000	0.70980	2.941000	0.99782	0.655000	0.94253	CTT		PASS	0.328	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		23	57	23	57	---	---	---	---
TMEM230	29058	broad.mit.edu	37	20	5086887	5086887	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr20:5086887C>A	ENST00000379286.2	-	4	589	c.169G>T	c.(169-171)Gcc>Tcc	p.A57S	TMEM230_ENST00000202834.7_Missense_Mutation_p.A57S|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000379279.2_Missense_Mutation_p.A57S|TMEM230_ENST00000379277.2_Missense_Mutation_p.A57S|TMEM230_ENST00000342308.5_Missense_Mutation_p.A120S|TMEM230_ENST00000379283.2_Missense_Mutation_p.A57S	NM_001009924.1	NP_001009924.1	Q96A57	TM230_HUMAN	transmembrane protein 230	57						integral component of membrane (GO:0016021)		p.A57S(1)|p.A120S(1)									ATGAGAAAGGCGCCAATCAAA	0.433																																						uc002wll.2																			2	Substitution - Missense(2)		lung(2)		0						c.(169-171)GCC>TCC		hypothetical protein LOC29058 isoform 2							70.0	68.0	69.0					20																	5086887		2203	4300	6503	SO:0001583	missense	29058					integral to membrane		g.chr20:5086887C>A	AF161392	CCDS13086.1, CCDS33438.1	20p13	2012-03-16	2012-03-16	2012-03-16	ENSG00000089063	ENSG00000089063			15876	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 30"""	C20orf30			Standard	XM_005260713		Approved	HSPC274	uc002wlk.3	Q96A57	OTTHUMG00000031796	ENST00000379286.2:c.169G>T	20.37:g.5086887C>A	ENSP00000368588:p.Ala57Ser					C20orf30_uc010gbi.2_Missense_Mutation_p.A57S|C20orf30_uc002wlk.2_Missense_Mutation_p.A120S|C20orf30_uc002wlm.2_Missense_Mutation_p.A57S|C20orf30_uc002wln.2_Missense_Mutation_p.A57S|C20orf30_uc002wlo.2_Intron	p.A57S	NM_001009924	NP_001009924	Q96A57	CT030_HUMAN			4	635	-			57			Helical; (Potential).		B2RDM8|D3DVZ9|Q0VGC8|Q5TDS5|Q96ES2|Q9P0A7	Missense_Mutation	SNP	ENST00000379286.2	37	c.169G>T	CCDS13086.1	.	.	.	.	.	.	.	.	.	.	C	2.074	-0.412259	0.04799	.	.	ENSG00000089063	ENST00000379283;ENST00000342308;ENST00000379299;ENST00000202834;ENST00000379286;ENST00000379279;ENST00000379277;ENST00000379276	T	0.41400	1.0	5.2	-1.1	0.09872	.	0.278917	0.40728	N	0.001039	T	0.11024	0.0269	N	0.01228	-0.945	0.20975	N	0.999818	B;B;B	0.30361	0.024;0.007;0.277	B;B;B	0.23419	0.046;0.01;0.028	T	0.40478	-0.9561	10	0.07990	T	0.79	-8.3489	9.5461	0.39282	0.0:0.3199:0.0:0.6801	.	57;57;120	Q5JWB9;Q96A57;Q96A57-2	.;CT030_HUMAN;.	S	57;120;57;57;57;57;57;57	ENSP00000341364:A120S	ENSP00000202834:A57S	A	-	1	0	C20orf30	5034887	0.957000	0.32711	0.351000	0.25721	0.136000	0.21042	0.753000	0.26376	-0.047000	0.13423	-0.136000	0.14681	GCC		PASS	0.433	TMEM230-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077846.1			21	41	21	41	---	---	---	---
ESF1	51575	broad.mit.edu	37	20	13763342	13763342	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr20:13763342C>T	ENST00000202816.1	-	2	552	c.445G>A	c.(445-447)Gat>Aat	p.D149N	NDUFAF5_ENST00000463598.1_5'Flank|NDUFAF5_ENST00000378106.5_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	149	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D149N(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATGTTTGAATCTATCTTAAAT	0.284																																						uc002woj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(445-447)GAT>AAT		ABT1-associated protein							39.0	39.0	39.0					20																	13763342		2189	4283	6472	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763342C>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.445G>A	20.37:g.13763342C>T	ENSP00000202816:p.Asp149Asn					ESF1_uc002wok.1_Missense_Mutation_p.D149N|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	p.D149N	NM_016649	NP_057733	Q9H501	ESF1_HUMAN			2	553	-			149			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.445G>A	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	3.966	-0.009280	0.07727	.	.	ENSG00000089048	ENST00000202816	T	0.23552	1.9	4.96	1.77	0.24775	.	0.507820	0.21351	N	0.075968	T	0.11879	0.0289	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.17623	-1.0363	10	0.24483	T	0.36	.	4.3564	0.11181	0.0:0.4833:0.1733:0.3433	.	149	Q9H501	ESF1_HUMAN	N	149	ENSP00000202816:D149N	ENSP00000202816:D149N	D	-	1	0	ESF1	13711342	0.000000	0.05858	0.479000	0.27329	0.333000	0.28666	-0.024000	0.12435	1.061000	0.40601	0.591000	0.81541	GAT		PASS	0.284	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		6	21	6	21	---	---	---	---
BFSP1	631	broad.mit.edu	37	20	17492636	17492636	+	Silent	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr20:17492636C>A	ENST00000377873.3	-	4	651	c.612G>T	c.(610-612)acG>acT	p.T204T	BFSP1_ENST00000473415.1_Intron|BFSP1_ENST00000544874.1_Silent_p.T65T|BFSP1_ENST00000536626.1_Silent_p.T65T|BFSP1_ENST00000377868.2_Silent_p.T79T	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	204	Coil 2.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.T204T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCATCCCACTCGTCACAATGG	0.527																																						uc002wpo.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(610-612)ACG>ACT		filensin isoform 1							152.0	106.0	122.0					20																	17492636		2203	4300	6503	SO:0001819	synonymous_variant	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17492636C>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.612G>T	20.37:g.17492636C>A						BFSP1_uc002wpp.2_Silent_p.T79T|BFSP1_uc010zrn.1_Silent_p.T65T|BFSP1_uc010zro.1_Silent_p.T65T	p.T204T	NM_001195	NP_001186	Q12934	BFSP1_HUMAN			4	651	-			204			Rod.|Coil 2.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Silent	SNP	ENST00000377873.3	37	c.612G>T	CCDS13126.1																																																																																				PASS	0.527	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		11	33	11	33	---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39791871	39791871	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr20:39791871G>A	ENST00000373271.1	+	8	1150	c.745G>A	c.(745-747)Gtg>Atg	p.V249M	PLCG1_ENST00000244007.3_Missense_Mutation_p.V249M|PLCG1_ENST00000373272.2_Missense_Mutation_p.V249M	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	249					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.V249M(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCTTTGCCGAGTGTCCCTTCC	0.602																																						uc002xjp.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|skin(2)	8						c.(745-747)GTG>ATG		phospholipase C, gamma 1 isoform b							99.0	96.0	97.0					20																	39791871		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39791871G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.745G>A	20.37:g.39791871G>A	ENSP00000362368:p.Val249Met					PLCG1_uc002xjo.1_Missense_Mutation_p.V249M|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank	p.V249M	NM_182811	NP_877963	P19174	PLCG1_HUMAN			8	866	+		Myeloproliferative disorder(115;0.00878)	249					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.745G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430403	0.62844	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.38722	1.12;1.12;1.12	5.59	1.29	0.21616	.	0.427323	0.27193	N	0.020497	T	0.51702	0.1690	M	0.62088	1.915	0.42253	D	0.99198	P;D	0.53885	0.787;0.963	P;D	0.66351	0.595;0.943	T	0.48833	-0.9000	10	0.56958	D	0.05	.	4.5486	0.12098	0.2483:0.0:0.5973:0.1544	.	249;249	P19174;A2A284	PLCG1_HUMAN;.	M	249	ENSP00000244007:V249M;ENSP00000362368:V249M;ENSP00000362369:V249M	ENSP00000244007:V249M	V	+	1	0	PLCG1	39225285	0.385000	0.25172	0.993000	0.49108	0.998000	0.95712	0.766000	0.26560	0.327000	0.23409	0.561000	0.74099	GTG		PASS	0.602	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		10	28	10	28	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61511762	61511762	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr20:61511762T>A	ENST00000266070.4	-	16	5871	c.5546A>T	c.(5545-5547)cAt>cTt	p.H1849L	DIDO1_ENST00000395343.1_Missense_Mutation_p.H1849L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1849	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H1849L(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTCTCCCCATGGGGATCCTT	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(5545-5547)CAT>CTT		death inducer-obliterator 1 isoform c							59.0	63.0	61.0					20																	61511762		2203	4295	6498	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511762T>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5546A>T	20.37:g.61511762T>A	ENSP00000266070:p.His1849Leu					DIDO1_uc002yds.1_Missense_Mutation_p.H1849L	p.H1849L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5810	-	Breast(26;5.68e-08)		1849			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5546A>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.838729	0.51057	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09723	2.95;2.95	4.97	2.55	0.30701	.	0.154226	0.29908	N	0.010885	T	0.10508	0.0257	L	0.55103	1.725	0.80722	D	1	P	0.44877	0.845	B	0.39379	0.298	T	0.05750	-1.0866	10	0.66056	D	0.02	-17.0936	7.0871	0.25264	0.0:0.0829:0.1452:0.7719	.	1849	Q9BTC0	DIDO1_HUMAN	L	1849	ENSP00000266070:H1849L;ENSP00000378752:H1849L	ENSP00000266070:H1849L	H	-	2	0	DIDO1	60982207	0.952000	0.32445	0.009000	0.14445	0.389000	0.30415	1.655000	0.37345	0.188000	0.20168	-0.366000	0.07423	CAT		PASS	0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		30	33	30	33	---	---	---	---
CLIC6	54102	broad.mit.edu	37	21	36079604	36079604	+	Silent	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr21:36079604A>T	ENST00000360731.3	+	3	1455	c.1455A>T	c.(1453-1455)ggA>ggT	p.G485G	CLIC6_ENST00000349499.2_Silent_p.G467G			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	485						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.G467G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AGAGTATCGGAAATTGCCCGT	0.443																																						uc010gmt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1453-1455)GGA>GGT		chloride intracellular channel 6							186.0	147.0	160.0					21																	36079604		2203	4300	6503	SO:0001819	synonymous_variant	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36079604A>T	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1455A>T	21.37:g.36079604A>T						CLIC6_uc002yuf.1_Silent_p.G467G	p.G485G	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN			3	1455	+			485					A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37	c.1455A>T																																																																																					PASS	0.443	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			19	29	19	29	---	---	---	---
PFKL	5211	broad.mit.edu	37	21	45732984	45732984	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr21:45732984G>T	ENST00000349048.4	+	5	606	c.551G>T	c.(550-552)cGc>cTc	p.R184L	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Missense_Mutation_p.R231L	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	184	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.R231L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCCCTCCACCGCATCATGGAG	0.667																																						uc002zel.2																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)CGC>CTC		liver phosphofructokinase							126.0	99.0	108.0					21																	45732984		2203	4300	6503	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732984G>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.551G>T	21.37:g.45732984G>T	ENSP00000269848:p.Arg184Leu					PFKL_uc002zek.2_Missense_Mutation_p.R231L|PFKL_uc011afd.1_Missense_Mutation_p.R231L	p.R184L	NM_002626	NP_002617	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	5	610	+			184					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.551G>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309459	0.95629	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.79845	-1.31;-1.31	4.59	4.59	0.56863	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.91855	0.7422	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	D	0.94031	0.7301	10	0.87932	D	0	-34.907	16.1643	0.81743	0.0:0.0:1.0:0.0	.	184;231	P17858;P17858-2	K6PL_HUMAN;.	L	184;234;231	ENSP00000269848:R184L;ENSP00000384038:R231L	ENSP00000269848:R184L	R	+	2	0	PFKL	44557412	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.385000	0.97223	2.096000	0.63516	0.491000	0.48974	CGC		PASS	0.667	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			37	21	37	21	---	---	---	---
KRTAP10-4	386672	broad.mit.edu	37	21	45994758	45994758	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr21:45994758G>T	ENST00000400374.3	+	1	1153	c.1123G>T	c.(1123-1125)Gtg>Ttg	p.V375L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	375	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.V375L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CGCCTGCTGCGTGCCCGTCCC	0.701																																						uc002zfk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1123-1125)GTG>TTG		keratin associated protein 10-4							59.0	74.0	69.0					21																	45994758		2203	4296	6499	SO:0001583	missense	386672					keratin filament		g.chr21:45994758G>T	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.1123G>T	21.37:g.45994758G>T	ENSP00000383225:p.Val375Leu					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V375L	NM_198687	NP_941960	P60372	KR104_HUMAN			1	1153	+			375			36 X 5 AA repeats of C-C-X(3).|35.		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.1123G>T	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	g	8.441	0.850774	0.17034	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.01414	4.92	4.11	-0.134	0.13481	.	.	.	.	.	T	0.02047	0.0064	M	0.72118	2.19	0.09310	N	1	B	0.22276	0.067	B	0.22880	0.042	T	0.40459	-0.9562	9	0.44086	T	0.13	.	3.9982	0.09568	0.2961:0.3571:0.3468:0.0	.	375	P60372	KR104_HUMAN	L	375;171	ENSP00000383225:V375L	ENSP00000333987:V171L	V	+	1	0	KRTAP10-4	44819186	0.000000	0.05858	0.004000	0.12327	0.452000	0.32318	0.074000	0.14662	-0.021000	0.14009	-0.373000	0.07131	GTG		PASS	0.701	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		22	28	22	28	---	---	---	---
SLC5A1	6523	broad.mit.edu	37	22	32487631	32487631	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr22:32487631G>T	ENST00000266088.4	+	11	1412	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	SLC5A1_ENST00000543737.1_Missense_Mutation_p.A261S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	388					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.A388S(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AGTCATGCTGGCCTCCCTCAT	0.498																																						uc003amc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1162-1164)GCC>TCC		solute carrier family 5 (sodium/glucose							126.0	107.0	113.0					22																	32487631		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32487631G>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1162G>T	22.37:g.32487631G>T	ENSP00000266088:p.Ala388Ser					SLC5A1_uc011alz.1_Missense_Mutation_p.A261S	p.A388S	NM_000343	NP_000334	P13866	SC5A1_HUMAN			11	1394	+			388			Helical; (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1162G>T	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345913	0.95807	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.93189	-3.18;-3.18	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96631	0.9467	10	0.51188	T	0.08	.	19.3618	0.94442	0.0:0.0:1.0:0.0	.	388	P13866	SC5A1_HUMAN	S	388;261	ENSP00000266088:A388S;ENSP00000444898:A261S	ENSP00000266088:A388S	A	+	1	0	SLC5A1	30817631	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.640000	0.98453	2.820000	0.97059	0.650000	0.86243	GCC		PASS	0.498	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		25	52	25	52	---	---	---	---
MCHR1	2847	broad.mit.edu	37	22	41077580	41077580	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr22:41077580C>T	ENST00000249016.4	+	2	1613	c.917C>T	c.(916-918)tCc>tTc	p.S306F	MCHR1_ENST00000381433.2_Missense_Mutation_p.S180F|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	306					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)	p.S306F(2)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CGCATGACGTCCTCAGTGGCC	0.602																																						uc003ayz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(916-918)TCC>TTC		G protein-coupled receptor 24							106.0	79.0	88.0					22																	41077580		2203	4300	6503	SO:0001583	missense	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077580C>T		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.917C>T	22.37:g.41077580C>T	ENSP00000249016:p.Ser306Phe					MCHR1_uc003aza.2_Missense_Mutation_p.S195F|uc003azb.1_RNA	p.S306F	NM_005297	NP_005288	Q99705	MCHR1_HUMAN			2	1185	+			306			Cytoplasmic (Potential).		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.917C>T	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088843	0.76756	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.38240	1.15;1.15	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.365553	0.33772	N	0.004580	T	0.46132	0.1377	L	0.56396	1.775	0.44048	D	0.996781	P	0.47484	0.896	P	0.48524	0.58	T	0.48502	-0.9030	10	0.87932	D	0	.	16.6948	0.85332	0.0:1.0:0.0:0.0	.	306	Q99705	MCHR1_HUMAN	F	306;180	ENSP00000249016:S306F;ENSP00000370841:S180F	ENSP00000249016:S306F	S	+	2	0	MCHR1	39407526	0.978000	0.34361	0.508000	0.27688	0.980000	0.70556	6.012000	0.70767	2.607000	0.88179	0.655000	0.94253	TCC		PASS	0.602	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		17	17	17	17	---	---	---	---
WNT7B	7477	broad.mit.edu	37	22	46327059	46327059	+	Silent	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr22:46327059G>T	ENST00000339464.4	-	3	863	c.489C>A	c.(487-489)tcC>tcA	p.S163S	WNT7B_ENST00000410058.1_Silent_p.S163S|WNT7B_ENST00000410089.1_Silent_p.S147S|WNT7B_ENST00000409496.3_Silent_p.S167S	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	163					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.S163S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGCGCCGGGAGAAGTCGA	0.652																																						uc003bgo.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(487-489)TCC>TCA		wingless-type MMTV integration site family,							48.0	50.0	50.0					22																	46327059		2203	4299	6502	SO:0001819	synonymous_variant	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46327059G>T	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.489C>A	22.37:g.46327059G>T						WNT7B_uc010haa.2_Silent_p.S167S	p.S163S	NM_058238	NP_478679	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	3	863	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	163					B8A596|Q96Q12	Silent	SNP	ENST00000339464.4	37	c.489C>A	CCDS33667.1																																																																																				PASS	0.652	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238		4	29	4	29	---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13774698	13774698	+	Splice_Site	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:13774698T>A	ENST00000340096.6	+	13	1550	c.1223T>A	c.(1222-1224)cTt>cAt	p.L408H	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Splice_Site_p.L268H|OFD1_ENST00000380550.3_Splice_Site_p.L368H	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	408					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.L408H(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAATTTTAGCTTGAATTAGAG	0.323																																						uc004cvp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1222-1224)CTT>CAT		oral-facial-digital syndrome 1							45.0	47.0	47.0					X																	13774698		2202	4296	6498	SO:0001630	splice_region_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13774698T>A	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1222-1T>A	X.37:g.13774698T>A						OFD1_uc004cvr.3_Translation_Start_Site|OFD1_uc011mil.1_Translation_Start_Site|OFD1_uc004cvq.3_Missense_Mutation_p.L268H|OFD1_uc010nen.2_Missense_Mutation_p.L407H|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.L367H|OFD1_uc004cvv.3_Missense_Mutation_p.L367H	p.L408H	NM_003611	NP_003602	O75665	OFD1_HUMAN			13	1582	+			408			Potential.		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1223T>A	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	16.69	3.194565	0.58017	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D	0.96774	-2.38;-4.12;-2.18	4.94	4.94	0.65067	.	0.214219	0.40908	D	0.000988	D	0.97611	0.9217	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74348	0.972;0.961;0.983;0.972	D	0.97610	1.0129	10	0.45353	T	0.12	-4.6061	14.0178	0.64533	0.0:0.0:0.0:1.0	.	408;368;268;408	A8K2T9;O75665-3;A6NF31;O75665	.;.;.;OFD1_HUMAN	H	368;408;268;231	ENSP00000369923:L368H;ENSP00000344314:L408H;ENSP00000369941:L268H	ENSP00000344314:L408H	L	+	2	0	OFD1	13684619	1.000000	0.71417	0.964000	0.40570	0.748000	0.42578	4.689000	0.61723	1.756000	0.51951	0.486000	0.48141	CTT		PASS	0.323	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611	Missense_Mutation	19	65	19	65	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19398285	19398285	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:19398285T>C	ENST00000338883.4	-	19	2541	c.2542A>G	c.(2542-2544)Aag>Gag	p.K848E	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.K283E|MAP3K15_ENST00000469203.2_Missense_Mutation_p.K680E	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	848	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.K323E(1)|p.K895E(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AACGGAGGCTTGCTGGTGGCC	0.537																																						uc004czk.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(967-969)AAG>GAG		mitogen-activated protein kinase kinase kinase							64.0	51.0	55.0					X																	19398285		2202	4300	6502	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19398285T>C	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2542A>G	X.37:g.19398285T>C	ENSP00000345629:p.Lys848Glu					MAP3K15_uc004czj.1_Missense_Mutation_p.K283E	p.K323E	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			20	2604	-	Hepatocellular(33;0.183)		848			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.967A>G		.	.	.	.	.	.	.	.	.	.	T	13.64	2.297583	0.40694	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.65549	-0.16;-0.16;-0.16	5.68	3.15	0.36227	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.290043	0.42053	D	0.000771	T	0.53706	0.1813	L	0.45470	1.425	0.41039	D	0.985211	B;B	0.22851	0.076;0.01	B;B	0.17979	0.02;0.009	T	0.48725	-0.9010	10	0.54805	T	0.06	.	11.8973	0.52663	0.0:0.0:0.271:0.729	.	323;848	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	E	848;283;680	ENSP00000345629:K848E;ENSP00000352093:K283E;ENSP00000428356:K680E	ENSP00000345629:K848E	K	-	1	0	MAP3K15	19308206	1.000000	0.71417	0.811000	0.32455	0.466000	0.32739	3.179000	0.50887	0.228000	0.21019	0.486000	0.48141	AAG		PASS	0.537	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		3	5	3	5	---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22291549	22291549	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:22291549C>A	ENST00000323684.1	+	1	485	c.441C>A	c.(439-441)agC>agA	p.S147R		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	147	HYB domain.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S147R(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AAGTTACCAGCGCTTCGCTTG	0.438																																						uc004dai.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(439-441)AGC>AGA		zinc finger protein 645							66.0	64.0	65.0					X																	22291549		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291549C>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.441C>A	X.37:g.22291549C>A	ENSP00000323348:p.Ser147Arg						p.S147R	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	490	+			147					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.441C>A	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167386	0.01660	.	.	ENSG00000175809	ENST00000323684	T	0.31247	1.5	3.3	-2.54	0.06307	.	0.928471	0.09050	N	0.856029	T	0.11665	0.0284	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.32295	-0.9912	10	0.09843	T	0.71	.	0.911	0.01295	0.3094:0.1174:0.345:0.2281	.	147	Q8N7E2	ZN645_HUMAN	R	147	ENSP00000323348:S147R	ENSP00000323348:S147R	S	+	3	2	ZNF645	22201470	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.446000	0.06837	-0.654000	0.05394	-1.002000	0.02502	AGC		PASS	0.438	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		12	46	12	46	---	---	---	---
DCAF8L1	139425	broad.mit.edu	37	X	27997798	27997798	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:27997798C>A	ENST00000441525.1	-	1	1768	c.1654G>T	c.(1654-1656)Gtg>Ttg	p.V552L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	552								p.V552L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGTGACGCACGAAGAACCGA	0.478																																						uc004dbx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1654-1656)GTG>TTG		DDB1 and CUL4 associated factor 8-like 1							168.0	131.0	144.0					X																	27997798		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27997798C>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1654G>T	X.37:g.27997798C>A	ENSP00000405222:p.Val552Leu						p.V552L	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	1769	-			552					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.1654G>T	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	3.483	-0.105571	0.06967	.	.	ENSG00000226372	ENST00000441525	T	0.61627	0.09	0.842	-0.964	0.10326	.	0.151263	0.56097	D	0.000032	T	0.17577	0.0422	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26395	-1.0104	10	0.08599	T	0.76	-4.2259	4.1141	0.10072	0.0:0.2585:0.0:0.7415	.	552	A6NGE4	DC8L1_HUMAN	L	552	ENSP00000405222:V552L	ENSP00000405222:V552L	V	-	1	0	DCAF8L1	27907719	1.000000	0.71417	0.006000	0.13384	0.003000	0.03518	0.675000	0.25232	-0.225000	0.09913	-0.848000	0.03037	GTG		PASS	0.478	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		13	50	13	50	---	---	---	---
CXorf21	80231	broad.mit.edu	37	X	30577646	30577646	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:30577646A>G	ENST00000378962.3	-	3	1149	c.827T>C	c.(826-828)tTg>tCg	p.L276S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	276								p.L276S(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CATCAATTGCAATAGGCGGCT	0.388																																						uc004dcg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(826-828)TTG>TCG		hypothetical protein LOC80231							77.0	68.0	71.0					X																	30577646		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30577646A>G	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.827T>C	X.37:g.30577646A>G	ENSP00000368245:p.Leu276Ser						p.L276S	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	1103	-			276						Missense_Mutation	SNP	ENST00000378962.3	37	c.827T>C	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823985	0.32237	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	5.11	0.69529	.	0.108387	0.40385	N	0.001101	T	0.67748	0.2926	M	0.73962	2.25	0.25338	N	0.988977	D	0.89917	1.0	D	0.79784	0.993	T	0.63637	-0.6592	9	0.72032	D	0.01	-14.3421	13.9975	0.64411	1.0:0.0:0.0:0.0	.	276	Q9HAI6	CX021_HUMAN	S	276	.	ENSP00000368245:L276S	L	-	2	0	CXorf21	30487567	0.996000	0.38824	0.074000	0.20217	0.149000	0.21700	8.322000	0.90000	1.880000	0.54463	0.417000	0.27973	TTG		PASS	0.388	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		11	42	11	42	---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38146392	38146392	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:38146392C>G	ENST00000339363.3	-	14	2642	c.2475G>C	c.(2473-2475)aaG>aaC	p.K825N	RPGR_ENST00000378505.2_Missense_Mutation_p.K620N|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.K620N|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000318842.7_Missense_Mutation_p.K620N|RPGR_ENST00000309513.3_Missense_Mutation_p.K558N			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	825	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.K620N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTGTTttctcctttcttcctc	0.463																																						uc004ded.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1858-1860)AAG>AAC		retinitis pigmentosa GTPase regulator isoform C							208.0	137.0	161.0					X																	38146392		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38146392C>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2475G>C	X.37:g.38146392C>G	ENSP00000343671:p.Lys825Asn					RPGR_uc004deb.2_Missense_Mutation_p.K620N|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_Intron	p.K620N	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			15	2028	-			620			Glu-rich.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1860G>C		.	.	.	.	.	.	.	.	.	.	c	5.536	0.283745	0.10458	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T	0.38722	2.29;3.68;3.68;1.12;1.19	3.17	2.28	0.28536	.	.	.	.	.	T	0.24044	0.0582	N	0.24115	0.695	0.19575	N	0.999961	B;B	0.30482	0.281;0.039	B;B	0.22152	0.038;0.023	T	0.13926	-1.0491	9	0.26408	T	0.33	.	6.9691	0.24639	0.0:0.7491:0.0:0.2509	.	620;620	E9PE28;Q92834-2	.;.	N	825;558;620;620;620	ENSP00000343671:K825N;ENSP00000308783:K558N;ENSP00000322219:K620N;ENSP00000339531:K620N;ENSP00000367766:K620N	ENSP00000308783:K558N	K	-	3	2	RPGR	38031336	0.000000	0.05858	0.007000	0.13788	0.098000	0.18820	-0.149000	0.10204	0.344000	0.23847	0.484000	0.47621	AAG		PASS	0.463	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		18	54	18	54	---	---	---	---
EFHC2	80258	broad.mit.edu	37	X	44120491	44120491	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:44120491A>G	ENST00000420999.1	-	4	519	c.436T>C	c.(436-438)Ttt>Ctt	p.F146L		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	146	DM10 1. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)	p.F146L(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ACAGTATAAAACTGATCCTCA	0.408																																						uc004dgb.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|central_nervous_system(1)	6						c.(436-438)TTT>CTT		EF-hand domain (C-terminal) containing 2							59.0	52.0	54.0					X																	44120491		1842	4083	5925	SO:0001583	missense	80258						calcium ion binding	g.chrX:44120491A>G	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.436T>C	X.37:g.44120491A>G	ENSP00000404232:p.Phe146Leu						p.F146L	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN			5	526	-			146			DM10 1.		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.436T>C	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.246925|5.246925	0.95305|0.95305	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999|ENST00000441230	T;T|.	0.70631|.	-0.5;-0.5|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Uncharacterised domain DM10 (2);|.	0.187917|.	0.46758|.	D|.	0.000271|.	T|T	0.74733|0.74733	0.3755|0.3755	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.62740|.	0.906|.	T|T	0.75291|0.75291	-0.3369|-0.3369	10|5	0.36615|.	T|.	0.2|.	-6.6761|-6.6761	15.1298|15.1298	0.72514|0.72514	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	146|.	Q5JST6|.	EFHC2_HUMAN|.	L|A	146;174|126	ENSP00000333823:F146L;ENSP00000404232:F174L|.	ENSP00000333823:F146L|.	F|V	-|-	1|2	0|0	EFHC2|EFHC2	44005435|44005435	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.922000|0.922000	0.55478|0.55478	6.314000|6.314000	0.72848|0.72848	1.956000|1.956000	0.56807|0.56807	0.486000|0.486000	0.48141|0.48141	TTT|GTT		PASS	0.408	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		10	60	10	60	---	---	---	---
ZNF630	57232	broad.mit.edu	37	X	47918465	47918465	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:47918465C>T	ENST00000409324.3	-	5	1592	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	ZNF630_ENST00000442455.3_Missense_Mutation_p.E442K|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.E332K	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	456					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.E456K(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TAAGGTTTTTCTCCTGTATGA	0.448																																						uc004div.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1366-1368)GAA>AAA		zinc finger protein 630							63.0	61.0	62.0					X																	47918465		2194	4287	6481	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918465C>T	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1366G>A	X.37:g.47918465C>T	ENSP00000386393:p.Glu456Lys					ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.E332K	p.E456K	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN			5	1618	-			456					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.1366G>A	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	18.20	3.572062	0.65765	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.24350	1.86;1.86;1.86	2.54	2.54	0.30619	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44201	0.1282	L	0.59912	1.85	0.31681	N	0.643167	D	0.89917	1.0	D	0.85130	0.997	T	0.50693	-0.8798	9	0.72032	D	0.01	.	10.254	0.43385	0.0:1.0:0.0:0.0	.	456	Q2M218	ZN630_HUMAN	K	442;332;456	ENSP00000393163:E442K;ENSP00000354683:E332K;ENSP00000386393:E456K	ENSP00000354683:E332K	E	-	1	0	ZNF630	47803409	0.884000	0.30299	0.991000	0.47740	0.495000	0.33615	2.410000	0.44592	1.299000	0.44798	0.538000	0.68166	GAA		PASS	0.448	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		6	30	6	30	---	---	---	---
PAGE1	8712	broad.mit.edu	37	X	49459326	49459326	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:49459326A>T	ENST00000376150.3	-	2	180	c.48T>A	c.(46-48)taT>taA	p.Y16*		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	16					cellular defense response (GO:0006968)			p.Y16*(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					AAGATTCTACATAGATCATTG	0.353																																						uc004dom.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(46-48)TAT>TAA		P antigen family, member 1							84.0	69.0	74.0					X																	49459326		2203	4300	6503	SO:0001587	stop_gained	8712				cellular defense response			g.chrX:49459326A>T	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.48T>A	X.37:g.49459326A>T	ENSP00000365320:p.Tyr16*						p.Y16*	NM_003785	NP_003776	O75459	GAGB1_HUMAN			2	181	-	Ovarian(276;0.236)		16					Q6FGM3|Q9BSS7	Nonsense_Mutation	SNP	ENST00000376150.3	37	c.48T>A	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.749722	0.49257	.	.	ENSG00000068985	ENST00000376150	.	.	.	1.57	1.57	0.23409	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999995	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6903	0.12778	1.0:0.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000365320:Y16X	Y	-	3	2	PAGE1	49346037	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.827000	0.27421	0.857000	0.35407	0.314000	0.21332	TAT		PASS	0.353	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1			7	44	7	44	---	---	---	---
CLCN5	1184	broad.mit.edu	37	X	49840470	49840470	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:49840470G>A	ENST00000307367.2	+	4	517	c.226G>A	c.(226-228)Gac>Aac	p.D76N	CLCN5_ENST00000376108.3_Missense_Mutation_p.D76N|CLCN5_ENST00000376091.3_Missense_Mutation_p.D146N|CLCN5_ENST00000376088.3_Missense_Mutation_p.D146N			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	76					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.D146N(1)|p.D76N(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGGTTTGATAGACATCTCTGC	0.433																																						uc004dos.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(226-228)GAC>AAC		chloride channel 5 isoform b							130.0	117.0	121.0					X																	49840470		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49840470G>A	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.226G>A	X.37:g.49840470G>A	ENSP00000304257:p.Asp76Asn					CLCN5_uc004dor.1_Missense_Mutation_p.D146N|CLCN5_uc004doq.1_Missense_Mutation_p.D146N|CLCN5_uc004dot.1_Missense_Mutation_p.D76N	p.D76N	NM_000084	NP_000075	P51795	CLCN5_HUMAN			4	474	+	Ovarian(276;0.236)		76			Helical; (By similarity).		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.226G>A	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172573	0.94807	.	.	ENSG00000171365	ENST00000376088;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.27	5.27	0.74061	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.93122	0.7810	L	0.46947	1.48	0.80722	D	1	P;D	0.67145	0.584;0.996	B;D	0.79784	0.175;0.993	D	0.91584	0.5281	10	0.27785	T	0.31	-16.1176	16.9374	0.86206	0.0:0.0:1.0:0.0	.	76;146	P51795;P51795-2	CLCN5_HUMAN;.	N	146;146;76;76	ENSP00000365256:D146N;ENSP00000365259:D146N;ENSP00000365276:D76N;ENSP00000304257:D76N	ENSP00000304257:D76N	D	+	1	0	CLCN5	49727210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.705000	0.98719	2.349000	0.79799	0.529000	0.55759	GAC		PASS	0.433	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			12	34	12	34	---	---	---	---
AR	367	broad.mit.edu	37	X	66766093	66766093	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:66766093C>G	ENST00000374690.3	+	1	1629	c.1105C>G	c.(1105-1107)Ctg>Gtg	p.L369V	AR_ENST00000396044.3_Missense_Mutation_p.L369V|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.L369V	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	367	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L179V(1)|p.L369V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CAACTTTCCACTGGCTCTGGC	0.662									Androgen Insensitivity Syndrome																													uc004dwu.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8						c.(1105-1107)CTG>GTG		androgen receptor isoform 1	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						20.0	17.0	18.0					X																	66766093		2200	4291	6491	SO:0001583	missense	367	Androgen_Insensitivity_Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66766093C>G	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1105C>G	X.37:g.66766093C>G	ENSP00000363822:p.Leu369Val					AR_uc011mpd.1_Missense_Mutation_p.L369V|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.L369V	p.L369V	NM_000044	NP_000035	P10275	ANDR_HUMAN			1	2220	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	367			Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.1105C>G	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	14.17	2.454038	0.43634	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95821	-3.82;-3.82;-3.82	5.06	3.21	0.36854	.	0.917674	0.09243	N	0.828963	D	0.97365	0.9138	M	0.92317	3.295	0.21897	N	0.999486	P;B;B	0.40534	0.72;0.438;0.295	P;B;B	0.50162	0.633;0.362;0.095	D	0.90952	0.4806	10	0.62326	D	0.03	.	10.1735	0.42924	0.5283:0.4717:0.0:0.0	.	369;369;367	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	V	179;369;369;369;361	ENSP00000363822:L369V;ENSP00000421155:L369V;ENSP00000379359:L369V	ENSP00000363822:L369V	L	+	1	2	AR	66682818	0.324000	0.24652	0.022000	0.16811	0.953000	0.61014	0.767000	0.26575	0.483000	0.27608	0.509000	0.49947	CTG		PASS	0.662	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		5	11	5	11	---	---	---	---
CYSLTR1	10800	broad.mit.edu	37	X	77528442	77528442	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:77528442C>T	ENST00000373304.3	-	3	1094	c.802G>A	c.(802-804)Gat>Aat	p.D268N		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	268					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)	p.D268N(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AGGACAGAATCACAGGGTTTA	0.418																																						uc004edb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(802-804)GAT>AAT		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						83.0	77.0	79.0					X																	77528442		2203	4299	6502	SO:0001583	missense	10800				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528442C>T	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.802G>A	X.37:g.77528442C>T	ENSP00000362401:p.Asp268Asn					CYSLTR1_uc010nma.2_Missense_Mutation_p.D268N|CYSLTR1_uc010nmb.2_Missense_Mutation_p.D268N	p.D268N	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN			3	1202	-			268			Extracellular (Potential).		B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.802G>A	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	C	9.801	1.180639	0.21787	.	.	ENSG00000173198	ENST00000373304	T	0.37058	1.22	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.428825	0.23627	N	0.046178	T	0.16342	0.0393	N	0.11560	0.145	0.36662	D	0.878035	B	0.28820	0.224	B	0.25291	0.059	T	0.15292	-1.0442	10	0.19590	T	0.45	.	6.7425	0.23443	0.0:0.8688:0.0:0.1312	.	268	Q9Y271	CLTR1_HUMAN	N	268	ENSP00000362401:D268N	ENSP00000362401:D268N	D	-	1	0	CYSLTR1	77415098	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.340000	0.65958	1.840000	0.53500	0.468000	0.43344	GAT		PASS	0.418	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			10	47	10	47	---	---	---	---
CYLC1	1538	broad.mit.edu	37	X	83128189	83128189	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:83128189C>A	ENST00000329312.4	+	4	510	c.473C>A	c.(472-474)gCa>gAa	p.A158E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	158					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A157E(1)|p.A158E(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAAATGAGGCAGATAAAACT	0.338																																						uc004eei.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(472-474)GCA>GAA		cylicin, basic protein of sperm head							23.0	21.0	22.0					X																	83128189		2193	4277	6470	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128189C>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.473C>A	X.37:g.83128189C>A	ENSP00000331556:p.Ala158Glu					CYLC1_uc004eeh.1_Missense_Mutation_p.A157E	p.A158E	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	494	+			158					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.473C>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	0.774	-0.764886	0.02996	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.44881	0.91	4.54	0.502	0.16932	.	.	.	.	.	T	0.16642	0.0400	N	0.12182	0.205	0.09310	N	1	B;B	0.24368	0.037;0.102	B;B	0.23852	0.022;0.049	T	0.23511	-1.0186	9	0.07482	T	0.82	0.0544	0.6402	0.00809	0.2174:0.3819:0.1758:0.2248	.	158;158	P35663;F5H4V5	CYLC1_HUMAN;.	E	158	ENSP00000331556:A158E	ENSP00000331556:A158E	A	+	2	0	CYLC1	83014845	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.439000	0.06897	0.071000	0.16664	0.513000	0.50165	GCA		PASS	0.338	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		7	11	7	11	---	---	---	---
PABPC5	140886	broad.mit.edu	37	X	90691646	90691646	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:90691646C>T	ENST00000312600.3	+	2	1284	c.1070C>T	c.(1069-1071)gCa>gTa	p.A357V	PABPC5_ENST00000373105.1_Missense_Mutation_p.A193V|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	357	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A357V(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GCTACCAAAGCAGTGGATGAG	0.527																																						uc004efg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(1069-1071)GCA>GTA		poly(A) binding protein, cytoplasmic 5							40.0	39.0	40.0					X																	90691646		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691646C>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.1070C>T	X.37:g.90691646C>T	ENSP00000308012:p.Ala357Val					PABPC5_uc004eff.1_Missense_Mutation_p.A193V	p.A357V	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	1510	+			357			RRM 4.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.1070C>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098083	0.56183	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.35973	1.28;1.28	4.14	4.14	0.48551	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.76938	2.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.65376	-0.6183	10	0.87932	D	0	.	13.362	0.60661	0.0:1.0:0.0:0.0	.	357	Q96DU9	PABP5_HUMAN	V	193;357;325	ENSP00000362197:A193V;ENSP00000308012:A357V	ENSP00000308012:A357V	A	+	2	0	PABPC5	90578302	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	7.331000	0.79192	2.318000	0.78349	0.529000	0.55759	GCA		PASS	0.527	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		12	21	12	21	---	---	---	---
BTK	695	broad.mit.edu	37	X	100630231	100630231	+	Silent	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:100630231G>T	ENST00000308731.7	-	2	205	c.42C>A	c.(40-42)tcC>tcA	p.S14S	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Silent_p.S14S	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	14	Inositol-(1,3,4,5)-tetrakisphosphate 1- binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		S -> F (in XLA).		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.S14S(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTTTCTGTTGGGATCGCTTCA	0.458									Agammaglobulinemia, X-linked																													uc004ehg.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(40-42)TCC>TCA		Bruton agammaglobulinemia tyrosine kinase							180.0	158.0	165.0					X																	100630231		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630231G>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.42C>A	X.37:g.100630231G>T						BTK_uc010nnn.2_Silent_p.S14S|BTK_uc010nno.2_Silent_p.S48S|BTK_uc004ehi.2_Silent_p.S14S	p.S14S	NM_000061	NP_000052	Q06187	BTK_HUMAN			2	235	-			14		S -> F (in XLA).	PH.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.42C>A	CCDS14482.1																																																																																				PASS	0.458	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		12	98	12	98	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101912635	101912635	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:101912635C>A	ENST00000361600.5	+	5	4595	c.3794C>A	c.(3793-3795)aCt>aAt	p.T1265N	GPRASP1_ENST00000444152.1_Missense_Mutation_p.T1265N|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.T1265N|GPRASP1_ENST00000537097.1_Missense_Mutation_p.T1265N	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1265	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.T1265N(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGACATCTCACTACTACTACT	0.398																																						uc004ejj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(3793-3795)ACT>AAT		G protein-coupled receptor associated sorting							106.0	86.0	93.0					X																	101912635		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912635C>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3794C>A	X.37:g.101912635C>A	ENSP00000355146:p.Thr1265Asn					GPRASP1_uc004eji.3_Missense_Mutation_p.T1265N|GPRASP1_uc010nod.2_Missense_Mutation_p.T1265N	p.T1265N	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	4595	+			1265			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3794C>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	6.667	0.491700	0.12702	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	2.9	2.9	0.33743	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.61874	0.2382	M	0.77103	2.36	0.09310	N	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.47262	-0.9131	9	0.87932	D	0	-7.1254	8.4937	0.33115	0.0:1.0:0.0:0.0	.	1265	Q5JY77	GASP1_HUMAN	N	1265	ENSP00000393691:T1265N;ENSP00000409420:T1265N;ENSP00000355146:T1265N;ENSP00000445683:T1265N	ENSP00000355146:T1265N	T	+	2	0	GPRASP1	101799291	0.981000	0.34729	0.297000	0.24988	0.307000	0.27823	0.912000	0.28597	1.728000	0.51552	0.462000	0.41574	ACT		PASS	0.398	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		8	66	8	66	---	---	---	---
TCEAL3	85012	broad.mit.edu	37	X	102864368	102864368	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:102864368C>A	ENST00000372628.1	+	3	734	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	TCEAL3_ENST00000372627.5_Missense_Mutation_p.Q126K|TCEAL3_ENST00000243286.3_Missense_Mutation_p.Q126K|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q126K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CAAGGACTCTCAGGAGGACTT	0.532																																						uc004ekq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)CAG>AAG		transcription elongation factor A (SII)-like 3							121.0	114.0	116.0					X																	102864368		2203	4300	6503	SO:0001583	missense	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864368C>A	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.376C>A	X.37:g.102864368C>A	ENSP00000361711:p.Gln126Lys					TCEAL3_uc004ekr.2_Missense_Mutation_p.Q126K	p.Q126K	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN			3	638	+			126					D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	c.376C>A	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	C	5.754	0.323481	0.10900	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.07216	3.21;3.21;3.21	4.59	3.71	0.42584	.	0.660669	0.12579	N	0.456573	T	0.05044	0.0135	N	0.14661	0.345	0.26436	N	0.975854	P	0.44946	0.846	B	0.43155	0.41	T	0.04203	-1.0969	10	0.02654	T	1	.	9.4271	0.38586	0.0:0.7894:0.2105:0.0	.	126	Q969E4	TCAL3_HUMAN	K	126	ENSP00000361711:Q126K;ENSP00000361710:Q126K;ENSP00000243286:Q126K	ENSP00000243286:Q126K	Q	+	1	0	TCEAL3	102751024	0.993000	0.37304	0.768000	0.31515	0.985000	0.73830	0.417000	0.21214	1.246000	0.43901	0.538000	0.68166	CAG		PASS	0.532	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		11	82	11	82	---	---	---	---
ESX1	80712	broad.mit.edu	37	X	103495396	103495396	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:103495396G>A	ENST00000372588.4	-	4	817	c.734C>T	c.(733-735)cCt>cTt	p.P245L		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	245	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.P245L(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						AGGCAGCACAGGTGGTCTAGG	0.602																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(733-735)CCT>CTT		extraembryonic, spermatogenesis, homeobox							156.0	127.0	137.0					X																	103495396		2203	4300	6503	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495396G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.734C>T	X.37:g.103495396G>A	ENSP00000361669:p.Pro245Leu						p.P245L	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			4	792	-			245			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.|1.		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.734C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	G	2.915	-0.224573	0.06061	.	.	ENSG00000123576	ENST00000372588	T	0.55052	0.54	3.82	1.94	0.25998	.	.	.	.	.	T	0.43255	0.1239	L	0.51914	1.62	0.09310	N	1	P	0.47841	0.901	B	0.40565	0.333	T	0.29549	-1.0008	9	0.59425	D	0.04	0.5905	6.3604	0.21425	0.1049:0.0:0.7134:0.1817	.	245	Q8N693	ESX1_HUMAN	L	245	ENSP00000361669:P245L	ENSP00000361669:P245L	P	-	2	0	ESX1	103382052	0.007000	0.16637	0.002000	0.10522	0.026000	0.11368	1.491000	0.35583	0.231000	0.21079	0.529000	0.55759	CCT		PASS	0.602	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		19	98	19	98	---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106083927	106083927	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:106083927C>A	ENST00000357242.5	+	10	1706	c.1532C>A	c.(1531-1533)cCt>cAt	p.P511H	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P505H|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P511H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	511	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.P511H(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTACTAATCCTGACTATTAT	0.388																																						uc004emo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1531-1533)CCT>CAT		TBC1 domain family, member 8B (with GRAM domain)							140.0	132.0	135.0					X																	106083927		2203	4299	6502	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106083927C>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1532C>A	X.37:g.106083927C>A	ENSP00000349781:p.Pro511His					MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.P511H	p.P511H	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			10	1697	+			511			Rab-GAP TBC.		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1532C>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462852	0.84425	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.04317	3.65;3.65;3.65	5.3	5.3	0.74995	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.36407	-0.9749	10	0.87932	D	0	-13.3113	16.5186	0.84307	0.0:1.0:0.0:0.0	.	511;511	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	H	511;511;505	ENSP00000349781:P511H;ENSP00000310675:P511H;ENSP00000276175:P505H	ENSP00000276175:P505H	P	+	2	0	TBC1D8B	105970583	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.818000	0.86416	2.208000	0.71279	0.506000	0.49869	CCT		PASS	0.388	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		12	46	12	46	---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106097494	106097494	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:106097494C>A	ENST00000357242.5	+	14	2494	c.2320C>A	c.(2320-2322)Cag>Aag	p.Q774K	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Q768K	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	774							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.Q774K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTATGTGATACAGACCCTAGA	0.343																																						uc004emo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2320-2322)CAG>AAG		TBC1 domain family, member 8B (with GRAM domain)							90.0	74.0	79.0					X																	106097494		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106097494C>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2320C>A	X.37:g.106097494C>A	ENSP00000349781:p.Gln774Lys					MORC4_uc004emp.3_Intron	p.Q774K	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			14	2485	+			774					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2320C>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690641	0.88735	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.10382	2.9;2.88	4.52	4.52	0.55395	.	0.140523	0.49305	D	0.000160	T	0.31263	0.0791	M	0.84082	2.675	0.58432	D	0.999993	D	0.65815	0.995	P	0.58331	0.837	T	0.14811	-1.0459	10	0.48119	T	0.1	-1.1024	15.2819	0.73790	0.0:1.0:0.0:0.0	.	774	Q0IIM8	TBC8B_HUMAN	K	774;768	ENSP00000349781:Q774K;ENSP00000276175:Q768K	ENSP00000276175:Q768K	Q	+	1	0	TBC1D8B	105984150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.411000	0.80078	1.981000	0.57761	0.540000	0.68198	CAG		PASS	0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		7	47	7	47	---	---	---	---
SLC6A14	11254	broad.mit.edu	37	X	115577907	115577907	+	Splice_Site	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:115577907G>T	ENST00000371900.4	+	7	878	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	264					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V264L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTCTTGGTAGGTGGTATATTT	0.323																																						uc004eqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(790-792)GTG>TTG		solute carrier family 6 (amino acid	L-Proline(DB00172)						90.0	90.0	90.0					X																	115577907		2203	4299	6502	SO:0001630	splice_region_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115577907G>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.790-1G>T	X.37:g.115577907G>T						SLC6A14_uc011mtm.1_RNA	p.V264L	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			7	894	+			264			Helical; Name=5; (Potential).		Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.790G>T	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595511	0.86953	.	.	ENSG00000087916	ENST00000371900	T	0.80393	-1.37	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89649	0.6776	M	0.80847	2.515	0.58432	D	0.999998	D	0.76494	0.999	D	0.79784	0.993	D	0.90173	0.4237	9	.	.	.	.	15.6525	0.77108	0.0:0.0:1.0:0.0	.	264	Q9UN76	S6A14_HUMAN	L	264	ENSP00000360967:V264L	.	V	+	1	0	SLC6A14	115491935	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.597000	0.82733	2.291000	0.77112	0.600000	0.82982	GTG		PASS	0.323	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		Missense_Mutation	22	36	22	36	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117959684	117959684	+	Silent	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:117959684T>A	ENST00000310164.2	+	4	984	c.477T>A	c.(475-477)gcT>gcA	p.A159A		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	159					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A159A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						tccagaacgctattcaggcag	0.502																																						uc004equ.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(475-477)GCT>GCA		zinc finger, CCHC domain containing 12							107.0	107.0	107.0					X																	117959684		2203	4300	6503	SO:0001819	synonymous_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959684T>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.477T>A	X.37:g.117959684T>A							p.A159A	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	950	+			159					B3KV48|Q6PID5|Q8N1C1	Silent	SNP	ENST00000310164.2	37	c.477T>A	CCDS14574.1																																																																																				PASS	0.502	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		83	116	83	116	---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118972475	118972475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:118972475C>A	ENST00000276201.2	-	9	931	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Nonsense_Mutation_p.E275*	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	288	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E288*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCTCCTTTTTCTGGCTTCTTG	0.323																																						uc004erz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(862-864)GAA>TAA		UPF3 regulator of nonsense transcripts homolog B							162.0	151.0	155.0					X																	118972475		2202	4300	6502	SO:0001587	stop_gained	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118972475C>A	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.862G>T	X.37:g.118972475C>A	ENSP00000276201:p.Glu288*					UPF3B_uc004esa.1_Nonsense_Mutation_p.E275*	p.E288*	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			9	939	-			288			Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Nonsense_Mutation	SNP	ENST00000276201.2	37	c.862G>T	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459717	0.96240	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.3348	0.83053	0.0:1.0:0.0:0.0	.	.	.	.	X	288;275	.	ENSP00000276201:E288X	E	-	1	0	UPF3B	118856503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.007000	0.63984	2.161000	0.67846	0.526000	0.51066	GAA		PASS	0.323	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			42	90	42	90	---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118975200	118975200	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:118975200C>T	ENST00000276201.2	-	7	715	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Missense_Mutation_p.E216K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	216	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E216K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						ctcctttcttctctcttttct	0.343																																						uc004erz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(646-648)GAA>AAA		UPF3 regulator of nonsense transcripts homolog B							122.0	112.0	115.0					X																	118975200		2203	4300	6503	SO:0001583	missense	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118975200C>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.646G>A	X.37:g.118975200C>T	ENSP00000276201:p.Glu216Lys					UPF3B_uc004esa.1_Missense_Mutation_p.E216K	p.E216K	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			7	723	-			216			Sufficient for association with EJC core.|Necessary for interaction with UPF2.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.646G>A	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610041	0.46527	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.79352	-1.21;-1.26	5.15	4.28	0.50868	.	0.209790	0.49916	D	0.000130	T	0.69242	0.3089	L	0.41356	1.27	0.80722	D	1	P;P	0.38827	0.562;0.649	B;B	0.36186	0.142;0.219	T	0.70883	-0.4751	10	0.87932	D	0	.	12.4485	0.55666	0.0:0.834:0.166:0.0	.	216;216	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	K	216	ENSP00000276201:E216K;ENSP00000245418:E216K	ENSP00000276201:E216K	E	-	1	0	UPF3B	118859228	1.000000	0.71417	0.998000	0.56505	0.729000	0.41735	5.903000	0.69877	0.949000	0.37715	-0.347000	0.07816	GAA		PASS	0.343	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			12	98	12	98	---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118977226	118977226	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:118977226C>T	ENST00000276201.2	-	5	577	c.508G>A	c.(508-510)Gat>Aat	p.D170N	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Missense_Mutation_p.D170N	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	170	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D170N(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTCTCATTATCTGTGGCATAA	0.308																																						uc004erz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(508-510)GAT>AAT		UPF3 regulator of nonsense transcripts homolog B							251.0	218.0	229.0					X																	118977226		2202	4300	6502	SO:0001583	missense	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118977226C>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.508G>A	X.37:g.118977226C>T	ENSP00000276201:p.Asp170Asn					UPF3B_uc004esa.1_Missense_Mutation_p.D170N	p.D170N	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			5	585	-			170			Sufficient for association with EJC core.|Necessary for interaction with UPF2.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.508G>A	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866529	0.72065	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.61510	0.1;0.1	5.08	5.08	0.68730	Regulator of nonsense-mediated decay, UPF3 (1);	0.047228	0.85682	D	0.000000	T	0.76321	0.3971	M	0.80982	2.52	0.80722	D	1	D;D	0.69078	0.979;0.997	P;D	0.65773	0.801;0.938	T	0.80808	-0.1217	10	0.87932	D	0	.	16.5452	0.84443	0.0:1.0:0.0:0.0	.	170;170	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	N	170	ENSP00000276201:D170N;ENSP00000245418:D170N	ENSP00000276201:D170N	D	-	1	0	UPF3B	118861254	1.000000	0.71417	0.897000	0.35233	0.205000	0.24178	5.734000	0.68580	2.108000	0.64289	0.594000	0.82650	GAT		PASS	0.308	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			6	88	6	88	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122801009	122801009	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:122801009C>T	ENST00000245838.8	-	11	1169	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T	THOC2_ENST00000355725.4_Missense_Mutation_p.A380T|THOC2_ENST00000491737.1_Missense_Mutation_p.A265T	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	380					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.A301T(1)|p.A380T(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATAGCAAGGGCTATTAGCTTG	0.383																																						uc004etu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1138-1140)GCC>ACC		THO complex 2							148.0	130.0	136.0					X																	122801009		1895	4099	5994	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122801009C>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1138G>A	X.37:g.122801009C>T	ENSP00000245838:p.Ala380Thr					THOC2_uc011muh.1_Missense_Mutation_p.A301T|THOC2_uc011mui.1_Missense_Mutation_p.A265T	p.A380T	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			11	1170	-			380					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.1138G>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077485	0.94000	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000004	T	0.79106	0.4390	M	0.76574	2.34	0.80722	D	1	D;P	0.89917	1.0;0.952	D;P	0.83275	0.996;0.78	T	0.78214	-0.2291	9	0.36615	T	0.2	-5.8913	18.1283	0.89593	0.0:1.0:0.0:0.0	.	301;380	B4DKZ6;Q8NI27	.;THOC2_HUMAN	T	380;380;265;301	.	ENSP00000245838:A380T	A	-	1	0	THOC2	122628690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.752000	0.85141	2.305000	0.77605	0.594000	0.82650	GCC		PASS	0.383	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			11	55	11	55	---	---	---	---
CCDC160	347475	broad.mit.edu	37	X	133379769	133379769	+	Silent	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:133379769A>T	ENST00000517294.1	+	3	1322	c.939A>T	c.(937-939)tcA>tcT	p.S313S	CCDC160_ENST00000370809.4_Silent_p.S313S			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	313								p.S313S(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						TGGTAACATCATCAAGTATCC	0.348																																						uc011mvj.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(937-939)TCA>TCT		coiled-coil domain containing 160							28.0	25.0	26.0					X																	133379769		1823	4051	5874	SO:0001819	synonymous_variant	347475							g.chrX:133379769A>T	BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.939A>T	X.37:g.133379769A>T							p.S313S	NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN			2	1260	+			313						Silent	SNP	ENST00000517294.1	37	c.939A>T	CCDS48171.1																																																																																				PASS	0.348	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357		4	22	4	22	---	---	---	---
ZNF75D	7626	broad.mit.edu	37	X	134421514	134421514	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:134421514T>A	ENST00000370766.3	-	7	3797	c.1088A>T	c.(1087-1089)aAa>aTa	p.K363I	ZNF75D_ENST00000370764.1_Missense_Mutation_p.K268I|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	363					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K363I(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTAAAAGGTTTCTCCCCTGT	0.408																																						uc004eyp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1087-1089)AAA>ATA		zinc finger protein 75							56.0	55.0	55.0					X																	134421514		2203	4298	6501	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421514T>A	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1088A>T	X.37:g.134421514T>A	ENSP00000359802:p.Lys363Ile					ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.K142I|ZNF75D_uc004eyo.2_Missense_Mutation_p.K268I	p.K363I	NM_007131	NP_009062	P51815	ZN75D_HUMAN			7	3743	-			363					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.1088A>T	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028052	0.35797	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.01234	5.13;5.13	3.1	0.555	0.17247	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37809	N	0.001940	T	0.08492	0.0211	H	0.94808	3.585	0.25641	N	0.986207	D;P	0.57899	0.981;0.944	D;D	0.68765	0.96;0.942	T	0.09574	-1.0668	10	0.87932	D	0	.	4.0086	0.09613	0.0:0.1283:0.2101:0.6616	.	363;268	P51815;A6NK62	ZN75D_HUMAN;.	I	363;268	ENSP00000359802:K363I;ENSP00000359800:K268I	ENSP00000359800:K268I	K	-	2	0	ZNF75D	134249180	1.000000	0.71417	0.019000	0.16419	0.373000	0.29922	1.576000	0.36504	0.020000	0.15106	0.345000	0.21793	AAA		PASS	0.408	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		9	35	9	35	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135496475	135496475	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:135496475G>T	ENST00000394143.1	+	25	9485	c.9194G>T	c.(9193-9195)aGc>aTc	p.S3065I	GPR112_ENST00000287534.4_Missense_Mutation_p.S2784I|GPR112_ENST00000370652.1_Missense_Mutation_p.S3065I|GPR112_ENST00000412101.1_Missense_Mutation_p.S2860I|GPR112_ENST00000394141.1_Missense_Mutation_p.S2860I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3065					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S3065I(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAGAAATAAGCTTTCCAAAT	0.393																																						uc004ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(9193-9195)AGC>ATC		G-protein coupled receptor 112							130.0	129.0	130.0					X																	135496475		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135496475G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.9194G>T	X.37:g.135496475G>T	ENSP00000377699:p.Ser3065Ile					GPR112_uc010nsb.1_Missense_Mutation_p.S2860I	p.S3065I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			25	9485	+	Acute lymphoblastic leukemia(192;0.000127)		3065			Cytoplasmic (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.9194G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572036	0.28092	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34667	1.39;1.39;1.35;1.65;1.35	5.4	1.29	0.21616	.	.	.	.	.	T	0.24967	0.0606	N	0.22421	0.69	0.19300	N	0.999976	B;B	0.32160	0.358;0.244	B;B	0.38616	0.277;0.143	T	0.29579	-1.0007	9	0.66056	D	0.02	.	3.3634	0.07194	0.2032:0.0:0.4421:0.3547	.	2860;3065	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	I	3065;3065;2860;2784;2860	ENSP00000377699:S3065I;ENSP00000359686:S3065I;ENSP00000416526:S2860I;ENSP00000287534:S2784I;ENSP00000377697:S2860I	ENSP00000287534:S2784I	S	+	2	0	GPR112	135324141	0.908000	0.30866	0.931000	0.37212	0.658000	0.38924	0.165000	0.16564	0.178000	0.19917	0.594000	0.82650	AGC		PASS	0.393	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			16	102	16	102	---	---	---	---
GPR101	83550	broad.mit.edu	37	X	136112439	136112439	+	Silent	SNP	G	G	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:136112439G>T	ENST00000298110.1	-	1	1394	c.1395C>A	c.(1393-1395)atC>atA	p.I465I		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	465						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.I465I(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GCATGTCCTGGATTTCCTTCT	0.507																																						uc011mwh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1393-1395)ATC>ATA		G protein-coupled receptor 101							118.0	104.0	109.0					X																	136112439		2203	4300	6503	SO:0001819	synonymous_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112439G>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1395C>A	X.37:g.136112439G>T							p.I465I	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	1395	-	Acute lymphoblastic leukemia(192;0.000127)		465			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.1395C>A	CCDS14662.1																																																																																				PASS	0.507	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			28	38	28	38	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138708792	138708792	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:138708792T>C	ENST00000370576.4	-	5	771	c.562A>G	c.(562-564)Act>Gct	p.T188A	MCF2_ENST00000338585.6_Missense_Mutation_p.T188A|MCF2_ENST00000520602.1_Missense_Mutation_p.T248A|MCF2_ENST00000370578.4_Missense_Mutation_p.T333A|MCF2_ENST00000414978.1_Missense_Mutation_p.T248A|MCF2_ENST00000519895.1_Missense_Mutation_p.T248A|MCF2_ENST00000370573.4_Missense_Mutation_p.T188A|MCF2_ENST00000536274.1_Missense_Mutation_p.T149A	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	188					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T188A(2)|p.T248A(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTATTAATAGTTTGCCAGTCA	0.333																																						uc004fau.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|pleura(1)	2						c.(562-564)ACT>GCT		MCF.2 cell line derived transforming sequence							153.0	145.0	148.0					X																	138708792		2202	4300	6502	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138708792T>C		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.562A>G	X.37:g.138708792T>C	ENSP00000359608:p.Thr188Ala					MCF2_uc004fav.2_Missense_Mutation_p.T188A|MCF2_uc011mwl.1_Missense_Mutation_p.T149A|MCF2_uc010nsh.1_Missense_Mutation_p.T188A|MCF2_uc011mwm.1_Missense_Mutation_p.T149A|MCF2_uc011mwn.1_Missense_Mutation_p.T333A|MCF2_uc004faw.2_Missense_Mutation_p.T248A|MCF2_uc011mwo.1_Missense_Mutation_p.T248A	p.T188A	NM_005369	NP_005360	P10911	MCF2_HUMAN			5	856	-	Acute lymphoblastic leukemia(192;0.000127)		188					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.562A>G	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	t	17.64	3.438837	0.62955	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	4.98	4.98	0.66077	.	0.110452	0.64402	D	0.000010	T	0.71341	0.3328	M	0.77103	2.36	0.34463	D	0.702011	P;D;P;P;P;P;D;P	0.65815	0.772;0.995;0.854;0.772;0.854;0.772;0.994;0.772	B;P;P;B;P;B;D;B	0.66979	0.338;0.888;0.54;0.338;0.54;0.338;0.948;0.338	T	0.76493	-0.2939	10	0.19147	T	0.46	.	11.2778	0.49176	0.0:0.0:0.0:1.0	.	248;333;149;188;188;333;188;188	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	A	248;188;149;333;248;248;188;188	ENSP00000427745:T248A;ENSP00000359608:T188A;ENSP00000438155:T149A;ENSP00000359610:T333A;ENSP00000397055:T248A;ENSP00000430276:T248A;ENSP00000359605:T188A;ENSP00000342204:T188A	ENSP00000342204:T188A	T	-	1	0	MCF2	138536458	0.997000	0.39634	0.998000	0.56505	0.981000	0.71138	3.820000	0.55693	1.748000	0.51833	0.483000	0.47432	ACT		PASS	0.333	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		13	107	13	107	---	---	---	---
CXorf66	347487	broad.mit.edu	37	X	139038261	139038261	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:139038261T>A	ENST00000370540.1	-	3	903	c.880A>T	c.(880-882)Act>Tct	p.T294S		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	294						integral component of membrane (GO:0016021)		p.T294S(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AGGTTTTGAGTGTTTTTCTCC	0.388																																						uc004fbb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)ACT>TCT		hypothetical protein LOC347487 precursor							193.0	164.0	174.0					X																	139038261		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038261T>A		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.880A>T	X.37:g.139038261T>A	ENSP00000359571:p.Thr294Ser						p.T294S	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	902	-			294			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370540.1	37	c.880A>T	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.163887	0.38217	.	.	ENSG00000203933	ENST00000370540	T	0.43294	0.95	3.95	-0.998	0.10212	.	0.737577	0.11205	N	0.588407	T	0.24699	0.0599	N	0.19112	0.55	0.09310	N	1	B	0.29552	0.248	B	0.32090	0.14	T	0.26155	-1.0111	9	.	.	.	-0.0057	7.567	0.27885	0.0:0.3844:0.0:0.6156	.	294	Q5JRM2	CX066_HUMAN	S	294	ENSP00000359571:T294S	.	T	-	1	0	CXorf66	138865927	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.700000	0.05081	-0.394000	0.07727	-0.300000	0.09419	ACT		PASS	0.388	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		10	64	10	64	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140969303	140969303	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:140969303G>A	ENST00000298296.1	+	4	630	c.630G>A	c.(628-630)atG>atA	p.M210I	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	210	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.M210I(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCAGAGATGCAGATGAATG	0.433																																						uc011mwp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(628-630)ATG>ATA		melanoma antigen family C, 3 isoform 1							159.0	146.0	150.0					X																	140969303		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140969303G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.630G>A	X.37:g.140969303G>A	ENSP00000298296:p.Met210Ile						p.M210I	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			4	630	+	Acute lymphoblastic leukemia(192;6.56e-05)		210			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.630G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	G	6.379	0.437991	0.12104	.	.	ENSG00000165509	ENST00000298296	T	0.04015	3.73	2.26	0.307	0.15811	.	.	.	.	.	T	0.05456	0.0144	L	0.58925	1.835	0.09310	N	1	B	0.20780	0.048	B	0.19148	0.024	T	0.37572	-0.9700	9	0.38643	T	0.18	.	4.5254	0.11980	0.3718:0.0:0.6282:0.0	.	210	Q8TD91	MAGC3_HUMAN	I	210	ENSP00000298296:M210I	ENSP00000298296:M210I	M	+	3	0	MAGEC3	140796969	0.024000	0.19004	0.003000	0.11579	0.011000	0.07611	0.054000	0.14205	-0.020000	0.14032	0.525000	0.51046	ATG		PASS	0.433	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		21	106	21	106	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142718108	142718108	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:142718108G>A	ENST00000381779.4	-	2	1042	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R273C|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R273C	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	273						integral component of membrane (GO:0016021)		p.R273C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGGATGCGCACGTCAAAA	0.448																																						uc004fbx.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(817-819)CGC>TGC		slit and trk like 4 protein precursor							111.0	96.0	101.0					X																	142718108		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718108G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.817C>T	X.37:g.142718108G>A	ENSP00000371198:p.Arg273Cys					SLITRK4_uc004fby.2_Missense_Mutation_p.R273C	p.R273C	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1193	-	Acute lymphoblastic leukemia(192;6.56e-05)		273			Extracellular (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.817C>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257010	0.39896	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.58060	0.36;0.36;0.36	5.88	5.88	0.94601	.	0.059910	0.64402	U	0.000007	T	0.62466	0.2430	L	0.52905	1.665	0.80722	D	1	D	0.69078	0.997	P	0.58266	0.836	T	0.62784	-0.6781	10	0.48119	T	0.1	-6.3412	12.6279	0.56640	0.0:0.0:0.8348:0.1652	.	273	Q8IW52	SLIK4_HUMAN	C	273	ENSP00000371198:R273C;ENSP00000349400:R273C;ENSP00000336627:R273C	ENSP00000336627:R273C	R	-	1	0	SLITRK4	142545774	0.995000	0.38212	0.404000	0.26397	0.912000	0.54170	3.250000	0.51445	2.471000	0.83476	0.600000	0.82982	CGC		PASS	0.448	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		13	56	13	56	---	---	---	---
F8	2157	broad.mit.edu	37	X	154185349	154185349	+	Silent	SNP	A	A	T			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chrX:154185349A>T	ENST00000360256.4	-	11	1835	c.1635T>A	c.(1633-1635)ccT>ccA	p.P545P		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	545	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.P545P(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCAGGCACCGAGGATCTGATT	0.413																																						uc004fmt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(1633-1635)CCT>CCA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						213.0	188.0	196.0					X																	154185349		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154185349A>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1635T>A	X.37:g.154185349A>T							p.P545P	NM_000132	NP_000123	P00451	FA8_HUMAN			11	1806	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		545			F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.1635T>A	CCDS35457.1																																																																																				PASS	0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	81	8	81	---	---	---	---
LINC00880	339894	broad.mit.edu	37	3	156800697	156800697	+	lincRNA	DEL	A	A	-	rs77211633|rs35830764|rs397778624	byFrequency	TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr3:156800697delA	ENST00000469196.1	+	0	1068				LINC00880_ENST00000471357.1_lincRNA																							CTCAGGCAGGAAAAAAAAAAG	0.418													|||unknown(HR)	2131	0.425519	0.1165	0.5706	5008	,	,		21882	0.4921		0.6789	False		,,,				2504	0.411					uc003fbc.2																			0													Homo sapiens cDNA, FLJ18260.																																						0							g.chr3:156800697delA																													3.37:g.156800697delA														4		-									RNA	DEL	ENST00000469196.1	37	c.775delT																																																																																						0.418	RP11-6F2.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000351883.1			3	6	3	6	---	---	---	---
TMEM63B	55362	broad.mit.edu	37	6	44119666	44119666	+	Frame_Shift_Del	DEL	T	T	-			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr6:44119666delT	ENST00000259746.9	+	19	1940	c.1757delT	c.(1756-1758)ctgfs	p.L586fs	TMEM63B_ENST00000323267.6_Frame_Shift_Del_p.L586fs			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	586					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ATGGACCTGCTGCGCATCCCA	0.657											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003owr.2																			0				pancreas(2)|central_nervous_system(1)	3						c.(1756-1758)CTGfs		transmembrane protein 63B							88.0	62.0	71.0					6																	44119666		2203	4300	6503	SO:0001589	frameshift_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44119666delT	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1757delT	6.37:g.44119666delT	ENSP00000259746:p.Leu586fs		OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	TMEM63B_uc003ows.2_Frame_Shift_Del_p.L489fs|TMEM63B_uc010jyz.2_RNA	p.L586fs	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		19	1821	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		586					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Frame_Shift_Del	DEL	ENST00000259746.9	37	c.1757delT	CCDS34461.1																																																																																					0.657	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		13	12	13	12	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68410007	68410009	+	lincRNA	DEL	CCT	CCT	-	rs111979970		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr9:68410007_68410009delCCT	ENST00000417843.2	-	0	0				RNA5SP284_ENST00000384547.1_RNA																							tctctctctccctctggttctat	0.532																																						uc004aew.1																			0													Homo sapiens cDNA, FLJ98602.																																						0							g.chr9:68410007_68410009delCCT																													9.37:g.68410007_68410009delCCT														1		+									RNA	DEL	ENST00000417843.2	37	c.10_12delCCT																																																																																						0.532	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			4	2	4	2	---	---	---	---
PCAT7	101928099	broad.mit.edu	37	9	97317410	97317411	+	RNA	INS	-	-	T	rs528996645|rs145410254|rs369160744		TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr9:97317410_97317411insT	ENST00000452148.2	+	0	60_61									prostate cancer associated transcript 7 (non-protein coding)																		ttttgttgttgttttttttgtt	0.421																																						uc004aus.1																			0													Homo sapiens cDNA FLJ41071 fis, clone 3NB692003538.																																						0							g.chr9:97317410_97317411insT			9q22.32	2014-07-30			ENSG00000231806	ENSG00000231806		"""-"""	48824	non-coding RNA	RNA, long non-coding	"""prostate cancer-associated noncoding RNA 2"""					23728290	Standard	XR_250511		Approved	PCAN-R2			OTTHUMG00000020270		9.37:g.97317418_97317418dupT						uc004aut.1_5'Flank|uc004auu.2_5'Flank								1		+									RNA	INS	ENST00000452148.2	37	c.60_61insT																																																																																						0.421	PCAT7-001	KNOWN	basic	retained_intron	antisense	OTTHUMT00000053190.2	NR_121566		4	2	4	2	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49427160	49427160	+	Frame_Shift_Del	DEL	A	A	-			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr12:49427160delA	ENST00000301067.7	-	39	11327	c.11328delT	c.(11326-11328)cttfs	p.L3776fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3776	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGGAGGCATAAGGCCCTGGG	0.647																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(11326-11328)CTTfs		myeloid/lymphoid or mixed-lineage leukemia 2							19.0	24.0	22.0					12																	49427160		2115	4243	6358	SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49427160delA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11328delT	12.37:g.49427160delA	ENSP00000301067:p.Leu3776fs	HNSCC(34;0.089)					p.L3776fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			39	11328	-			3776			Gln-rich.		O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.11328delT	CCDS44873.1																																																																																					0.647	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	2	4	2	---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	825541	825541	+	Intron	DEL	C	C	-			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr16:825541delC	ENST00000442466.1	-	4	279				MSLNL_ENST00000293892.3_Frame_Shift_Del_p.G407fs			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TCTGGACTCGCCGTGGCAGCC	0.697																																						uc002cjz.1																			0				breast(3)|ovary(1)	4						c.(1219-1221)GGCfs		mesothelin-like							30.0	40.0	36.0					16																	825541		2107	4203	6310	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:825541delC			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.280-38G>-	16.37:g.825541delC							p.G407fs	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			5	1220	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Frame_Shift_Del	DEL	ENST00000442466.1	37	c.1220delG																																																																																						0.697	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		10	7	10	7	---	---	---	---
AC009120.6	0	broad.mit.edu	37	16	74366436	74366436	+	RNA	DEL	G	G	-			TCGA-66-2727-01A-01D-0983-08	TCGA-66-2727-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c2b2c909-1461-42ce-8fd9-736147dcacd8	d35d0976-dc9b-48c3-bdb0-016480667eb8	g.chr16:74366436delG	ENST00000565313.1	-	0	47				AC009120.6_ENST00000561921.1_RNA																							ggggaggggaggggaggggag	0.617																																						uc002fcr.2																			0					0						c.(931-933)CCTfs		Homo sapiens cDNA FLJ39449 fis, clone PROST2008360, highly similar to Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.																																						283922							g.chr16:74366436delG																													16.37:g.74366436delG						LOC283922_uc010vms.1_RNA	p.P311fs							14	2278	-									Frame_Shift_Del	DEL	ENST00000565313.1	37	c.932delC																																																																																						0.617	AC009120.6-003	KNOWN	basic	antisense	antisense	OTTHUMT00000434677.1			4	2	4	2	---	---	---	---
