#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
PLA2G2E	30814	broad.mit.edu	37	1	20249215	20249215	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr1:20249215C>G	ENST00000375116.3	-	2	131	c.74G>C	c.(73-75)gGg>gCg	p.G25A		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	25					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.G25A(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aminosalicylic Acid(DB00233)	GATCATCACCCCAAACTGAAC	0.612																																						uc001bct.1																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)GGG>GCG		phospholipase A2, group IIE precursor							97.0	95.0	96.0					1																	20249215		2203	4300	6503	SO:0001583	missense	30814				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20249215C>G	AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	3.1.1.4		13414	protein-coding gene	gene with protein product						10681567, 11922621	Standard	NM_014589		Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.74G>C	1.37:g.20249215C>G	ENSP00000364257:p.Gly25Ala						p.G25A	NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	132	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	25					Q5VXJ8	Missense_Mutation	SNP	ENST00000375116.3	37	c.74G>C	CCDS200.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719553	0.48728	.	.	ENSG00000188784	ENST00000375116	T	0.26223	1.75	5.97	5.06	0.68205	Phospholipase A2 (3);	0.000000	0.64402	D	0.000002	T	0.26159	0.0638	L	0.47078	1.49	0.39785	D	0.972354	B	0.22541	0.071	B	0.30401	0.115	T	0.07829	-1.0752	10	0.46703	T	0.11	-28.381	11.0256	0.47743	0.0:0.9147:0.0:0.0853	.	25	Q9NZK7	PA2GE_HUMAN	A	25	ENSP00000364257:G25A	ENSP00000364257:G25A	G	-	2	0	PLA2G2E	20121802	0.017000	0.18338	0.992000	0.48379	0.589000	0.36550	0.814000	0.27239	1.526000	0.49068	0.655000	0.94253	GGG		PASS	0.612	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007684.1	NM_014589		18	125	18	125	---	---	---	---
AGL	178	broad.mit.edu	37	1	100346221	100346221	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr1:100346221G>C	ENST00000294724.4	+	14	2247	c.1769G>C	c.(1768-1770)gGc>gCc	p.G590A	AGL_ENST00000361915.3_Missense_Mutation_p.G590A|AGL_ENST00000370165.3_Missense_Mutation_p.G590A|AGL_ENST00000361522.4_Missense_Mutation_p.G573A|AGL_ENST00000370161.2_Missense_Mutation_p.G574A|AGL_ENST00000370163.3_Missense_Mutation_p.G590A|AGL_ENST00000361302.3_Missense_Mutation_p.G574A	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	590					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.G590A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATGAAGAGGGCAGATTAGTT	0.398																																						uc001dsi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1768-1770)GGC>GCC		amylo-1,6-glucosidase,							277.0	261.0	266.0					1																	100346221		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100346221G>C	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1769G>C	1.37:g.100346221G>C	ENSP00000294724:p.Gly590Ala					AGL_uc001dsj.1_Missense_Mutation_p.G590A|AGL_uc001dsk.1_Missense_Mutation_p.G590A|AGL_uc001dsl.1_Missense_Mutation_p.G590A|AGL_uc001dsm.1_Missense_Mutation_p.G574A|AGL_uc001dsn.1_Missense_Mutation_p.G573A	p.G590A	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	14	2169	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	590			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.1769G>C	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001545	0.54254	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.84	5.84	0.93424	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	L	0.61036	1.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.87308	0.2310	10	0.46703	T	0.11	.	20.1466	0.98079	0.0:0.0:1.0:0.0	.	573;574;590	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	A	590;590;590;590;574;574;573	ENSP00000355106:G590A;ENSP00000359184:G590A;ENSP00000359182:G590A;ENSP00000294724:G590A;ENSP00000354971:G574A;ENSP00000359180:G574A;ENSP00000354635:G573A	ENSP00000294724:G590A	G	+	2	0	AGL	100118809	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	9.405000	0.97313	2.779000	0.95612	0.591000	0.81541	GGC		PASS	0.398	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		46	158	46	158	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214557127	214557127	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr1:214557127G>C	ENST00000366956.5	-	13	2265	c.2071C>G	c.(2071-2073)Cag>Gag	p.Q691E	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	691					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.Q691E(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGTGATACTGAGGGAGCTGG	0.632																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2071-2073)CAG>GAG		protein tyrosine phosphatase, non-receptor type							60.0	60.0	60.0					1																	214557127		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557127G>C	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2071C>G	1.37:g.214557127G>C	ENSP00000355923:p.Gln691Glu					PTPN14_uc010pty.1_Missense_Mutation_p.Q592E	p.Q691E	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2342	-			691					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2071C>G	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	1.353	-0.590957	0.03799	.	.	ENSG00000152104	ENST00000366956	T	0.66638	-0.22	5.0	2.98	0.34508	.	0.712333	0.13864	N	0.357462	T	0.43033	0.1229	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.22836	-1.0205	10	0.23302	T	0.38	.	9.4153	0.38517	0.0:0.1386:0.5784:0.283	.	691	Q15678	PTN14_HUMAN	E	691	ENSP00000355923:Q691E	ENSP00000355923:Q691E	Q	-	1	0	PTPN14	212623750	0.153000	0.22777	0.406000	0.26421	0.387000	0.30353	1.742000	0.38248	1.104000	0.41587	0.563000	0.77884	CAG		PASS	0.632	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		18	73	18	73	---	---	---	---
RAB4A	5867	broad.mit.edu	37	1	229434748	229434748	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr1:229434748C>T	ENST00000366690.4	+	6	678	c.470C>T	c.(469-471)gCg>gTg	p.A157V	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	157					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)	p.A157V(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				GAAACAAGTGCGCTCACAGGG	0.353																																					Esophageal Squamous(11;250 603 9619 16563)	uc001hth.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)GCG>GTG		RAB4A, member RAS oncogene family							116.0	115.0	116.0					1																	229434748		2203	4300	6503	SO:0001583	missense	5867						GDP binding|GTP binding|GTPase activity	g.chr1:229434748C>T	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"""RAB, member RAS oncogene"""	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.470C>T	1.37:g.229434748C>T	ENSP00000355651:p.Ala157Val					RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_RNA	p.A157V	NM_004578	NP_004569	P20338	RAB4A_HUMAN			6	678	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	152			GTP.		Q5T7P7|Q9BQ44	Missense_Mutation	SNP	ENST00000366690.4	37	c.470C>T	CCDS31050.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124278	0.94429	.	.	ENSG00000168118	ENST00000366690	D	0.88818	-2.43	5.38	4.47	0.54385	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96895	0.9656	10	0.87932	D	0	.	14.4607	0.67448	0.0:0.929:0.0:0.071	.	152	P20338	RAB4A_HUMAN	V	157	ENSP00000355651:A157V	ENSP00000355651:A157V	A	+	2	0	RAB4A	227501371	1.000000	0.71417	0.897000	0.35233	0.970000	0.65996	7.752000	0.85141	1.407000	0.46875	0.655000	0.94253	GCG		PASS	0.353	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		16	111	16	111	---	---	---	---
PLD5	200150	broad.mit.edu	37	1	242451818	242451818	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr1:242451818T>C	ENST00000536534.2	-	3	582	c.341A>G	c.(340-342)gAa>gGa	p.E114G	PLD5_ENST00000442594.2_Missense_Mutation_p.E22G|PLD5_ENST00000427495.1_Missense_Mutation_p.E52G			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	114						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.E114G(1)|p.E22G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGGAATATTTTCCACCAGGGC	0.343																																						uc001hzn.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(340-342)GAA>GGA		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							36.0	36.0	36.0					1																	242451818		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242451818T>C	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.341A>G	1.37:g.242451818T>C	ENSP00000440896:p.Glu114Gly					PLD5_uc001hzl.3_Missense_Mutation_p.E52G|PLD5_uc001hzm.3_Intron|PLD5_uc001hzo.1_Missense_Mutation_p.E22G	p.E114G			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		3	468	-	Melanoma(84;0.242)		114					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.341A>G	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560228	0.65538	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.78246	-0.11;-0.08;-0.16;-1.16	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.87466	0.6184	M	0.83012	2.62	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.88839	0.3311	10	0.87932	D	0	-25.1554	11.1628	0.48526	0.0:0.0:0.0:1.0	.	22;114;52	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	G	52;22;114;52	ENSP00000401285:E52G;ENSP00000414188:E22G;ENSP00000440896:E114G;ENSP00000438191:E52G	ENSP00000401285:E52G	E	-	2	0	PLD5	240518441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.547000	0.67249	1.733000	0.51620	0.482000	0.46254	GAA		PASS	0.343	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		4	38	4	38	---	---	---	---
HS1BP3	64342	broad.mit.edu	37	2	20840770	20840770	+	Silent	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:20840770G>A	ENST00000304031.3	-	3	394	c.369C>T	c.(367-369)gcC>gcT	p.A123A	HS1BP3_ENST00000406618.3_Silent_p.A123A|HS1BP3_ENST00000402541.1_Silent_p.A123A	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	123	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)	p.A123A(1)		endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCCAACTCGGCATCCTTGG	0.617																																						uc002rdw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(367-369)GCC>GCT		HCLS1 binding protein 3							132.0	134.0	134.0					2																	20840770		2203	4300	6503	SO:0001819	synonymous_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20840770G>A		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.369C>T	2.37:g.20840770G>A						HS1BP3_uc002rdx.2_Silent_p.A123A|HS1BP3_uc002rdy.2_Silent_p.A123A	p.A123A	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN			3	410	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		123			PX.		B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	37	c.369C>T	CCDS1700.1																																																																																				PASS	0.617	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		47	266	47	266	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25965491	25965491	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:25965491C>G	ENST00000435504.4	-	13	4008	c.3715G>C	c.(3715-3717)Gag>Cag	p.E1239Q	ASXL2_ENST00000336112.4_Missense_Mutation_p.E1211Q|ASXL2_ENST00000404843.1_Missense_Mutation_p.E722Q|ASXL2_ENST00000272341.4_Missense_Mutation_p.E722Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1239					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.E722Q(1)|p.E1239Q(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)					GTGGTTTGCTCATTCAATGGT	0.438																																						uc002rgs.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(3715-3717)GAG>CAG		additional sex combs like 2							76.0	72.0	74.0					2																	25965491		1945	4150	6095	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25965491C>G			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3715G>C	2.37:g.25965491C>G	ENSP00000391447:p.Glu1239Gln					ASXL2_uc002rgt.1_Missense_Mutation_p.E722Q	p.E1239Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			12	3936	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1239					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.3715G>C		.	.	.	.	.	.	.	.	.	.	C	3.678	-0.066093	0.07273	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18502	2.21;2.21;2.22;2.22	5.87	4.99	0.66335	.	0.702244	0.15091	N	0.281064	T	0.15869	0.0382	L	0.46157	1.445	0.09310	N	1	B;P	0.43094	0.42;0.799	B;B	0.40901	0.198;0.343	T	0.11518	-1.0584	10	0.23302	T	0.38	-8.5273	9.5441	0.39271	0.0:0.7765:0.1456:0.0779	.	722;1239	Q76L83-2;Q76L83	.;ASXL2_HUMAN	Q	1239;1211;722;722	ENSP00000391447:E1239Q;ENSP00000337250:E1211Q;ENSP00000383920:E722Q;ENSP00000272341:E722Q	ENSP00000272341:E722Q	E	-	1	0	ASXL2	25818995	0.993000	0.37304	0.956000	0.39512	0.607000	0.37147	2.973000	0.49264	2.774000	0.95407	0.650000	0.86243	GAG		PASS	0.438	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		9	78	9	78	---	---	---	---
SLC30A6	55676	broad.mit.edu	37	2	32396399	32396399	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:32396399G>T	ENST00000282587.5	+	2	84	c.47G>T	c.(46-48)gGc>gTc	p.G16V	SLC30A6_ENST00000538303.1_Intron|SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000379343.2_Missense_Mutation_p.G16V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.G16V	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	16					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.G16V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTTTTTTGGCAAGTTGTTA	0.338																																						uc002roe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)GGC>GTC		solute carrier family 30 (zinc transporter),							109.0	107.0	108.0					2																	32396399		2203	4300	6503	SO:0001583	missense	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32396399G>T	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.47G>T	2.37:g.32396399G>T	ENSP00000282587:p.Gly16Val					SLC30A6_uc002rof.1_Missense_Mutation_p.G16V|SLC30A6_uc010ymw.1_Intron|SLC30A6_uc010ezr.1_Missense_Mutation_p.G16V|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Intron|SLC30A6_uc002roh.1_5'UTR	p.G16V	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN			2	84	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		16			Cytoplasmic (Potential).		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.47G>T	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181657	0.78677	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660	T	0.78246	-1.16	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.82618	0.5076	L	0.32530	0.975	0.80722	D	1	D;D;B	0.76494	0.999;0.997;0.323	D;D;B	0.70016	0.956;0.967;0.104	D	0.83626	0.0142	10	0.52906	T	0.07	-2.8731	17.787	0.88541	0.0:0.0:1.0:0.0	.	16;16;16	Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;ZNT6_HUMAN	V	16	ENSP00000282587:G16V	ENSP00000282587:G16V	G	+	2	0	SLC30A6	32249903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.279000	0.78599	2.482000	0.83794	0.561000	0.74099	GGC		PASS	0.338	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			10	102	10	102	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33518261	33518261	+	Silent	SNP	A	A	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:33518261A>T	ENST00000404816.2	+	20	3500	c.3147A>T	c.(3145-3147)gcA>gcT	p.A1049A	LTBP1_ENST00000407925.1_Silent_p.A723A|LTBP1_ENST00000272273.5_5'UTR|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000404525.1_Silent_p.A670A|LTBP1_ENST00000402934.1_Silent_p.A670A|LTBP1_ENST00000390003.4_Silent_p.A724A|LTBP1_ENST00000418533.2_Silent_p.A723A|LTBP1_ENST00000354476.3_Silent_p.A1050A			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1049	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.A1050A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACGTCTGCGCAAATGGTGATT	0.428																																						uc002ros.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3148-3150)GCA>GCT		latent transforming growth factor beta binding							105.0	94.0	98.0					2																	33518261		2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33518261A>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3147A>T	2.37:g.33518261A>T						LTBP1_uc002rot.2_Silent_p.A724A|LTBP1_uc002rou.2_Silent_p.A723A|LTBP1_uc002rov.2_Silent_p.A670A|LTBP1_uc010ymz.1_Silent_p.A723A|LTBP1_uc010yna.1_Silent_p.A670A|LTBP1_uc010ynb.1_5'UTR	p.A1050A	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			20	3150	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1049			EGF-like 8; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.3150A>T	CCDS33177.2																																																																																				PASS	0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		13	65	13	65	---	---	---	---
DYNC2LI1	51626	broad.mit.edu	37	2	44031784	44031784	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:44031784C>A	ENST00000260605.8	+	11	906	c.806C>A	c.(805-807)tCt>tAt	p.S269Y	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.S270Y|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.S143Y	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	269					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.S269Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATTTTAGGATCTCCTCCTGTT	0.368																																						uc002rtk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(805-807)TCT>TAT		dynein 2 light intermediate chain isoform 1							110.0	102.0	104.0					2																	44031784		2203	4300	6503	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44031784C>A		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.806C>A	2.37:g.44031784C>A	ENSP00000260605:p.Ser269Tyr					DYNC2LI1_uc002rtj.2_Missense_Mutation_p.S269Y|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.S270Y|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.S143Y	p.S269Y	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN			11	902	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	269					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.806C>A	CCDS1813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.48|14.48	2.548096|2.548096	0.45383|0.45383	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000378587|ENST00000260605;ENST00000443170	.|T;T	.|0.46063	.|2.2;0.88	4.72|4.72	3.84|3.84	0.44239|0.44239	.|.	.|0.415857	.|0.29342	.|N	.|0.012432	T|T	0.45054|0.45054	0.1323|0.1323	L|L	0.44542|0.44542	1.39|1.39	0.32277|0.32277	N|N	0.568129|0.568129	.|B;B;B	.|0.31859	.|0.343;0.232;0.343	.|B;B;B	.|0.42995	.|0.404;0.229;0.404	T|T	0.56763|0.56763	-0.7925|-0.7925	5|10	.|0.36615	.|T	.|0.2	0.1192|0.1192	15.3851|15.3851	0.74691|0.74691	0.0:0.8602:0.1398:0.0|0.0:0.8602:0.1398:0.0	.|.	.|270;269;269	.|Q8TCX1-2;Q8TCX1;Q8TCX1-3	.|.;DC2L1_HUMAN;.	I|Y	253|269;143	.|ENSP00000260605:S269Y;ENSP00000388941:S143Y	.|ENSP00000260605:S269Y	L|S	+|+	1|2	0|0	DYNC2LI1|DYNC2LI1	43885288|43885288	0.953000|0.953000	0.32496|0.32496	0.661000|0.661000	0.29709|0.29709	0.923000|0.923000	0.55619|0.55619	3.671000|3.671000	0.54576|0.54576	1.322000|1.322000	0.45245|0.45245	0.650000|0.650000	0.86243|0.86243	CTC|TCT		PASS	0.368	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		20	101	20	101	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55571645	55571645	+	Missense_Mutation	SNP	T	T	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:55571645T>A	ENST00000436346.1	-	11	1888	c.1047A>T	c.(1045-1047)ttA>ttT	p.L349F	CCDC88A_ENST00000336838.6_Missense_Mutation_p.L349F|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L349F|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L349F|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	349					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.L349F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGTCTTCTTTTAATTCCTATA	0.274																																						uc002ryv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1045-1047)TTA>TTT		coiled-coil domain containing 88A isoform 1							78.0	79.0	79.0					2																	55571645		2201	4297	6498	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55571645T>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1047A>T	2.37:g.55571645T>A	ENSP00000410608:p.Leu349Phe					CCDC88A_uc010yoz.1_Missense_Mutation_p.L349F|CCDC88A_uc010ypa.1_Missense_Mutation_p.L349F|CCDC88A_uc010ypb.1_Missense_Mutation_p.L251F	p.L349F	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			11	1889	-			349			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.1047A>T		.	.	.	.	.	.	.	.	.	.	T	19.37	3.815499	0.70912	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	6.06	6.06	0.98353	.	0.000000	0.38005	U	0.001859	T	0.54431	0.1858	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.60255	-0.7299	10	0.62326	D	0.03	-6.3548	12.2599	0.54645	0.1271:0.0:0.0:0.8729	.	349;349;349	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	F	349	ENSP00000338728:L349F;ENSP00000263630:L349F;ENSP00000410608:L349F;ENSP00000404431:L349F	ENSP00000263630:L349F	L	-	3	2	CCDC88A	55425149	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.211000	0.32382	2.323000	0.78572	0.528000	0.53228	TTA		PASS	0.274	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		8	33	8	33	---	---	---	---
ETAA1	54465	broad.mit.edu	37	2	67637061	67637061	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:67637061G>C	ENST00000272342.5	+	6	2802	c.2672G>C	c.(2671-2673)aGa>aCa	p.R891T		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	891						cytoplasm (GO:0005737)		p.R891T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GAGAAAAATAGAAAGTGTTCT	0.338																																						uc002sdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(2671-2673)AGA>ACA		ETAA16 protein							81.0	99.0	93.0					2																	67637061		2203	4299	6502	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67637061G>C	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2672G>C	2.37:g.67637061G>C	ENSP00000272342:p.Arg891Thr						p.R891T	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			6	2811	+			891					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2672G>C	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031433	0.54790	.	.	ENSG00000143971	ENST00000272342	T	0.24908	1.83	5.77	2.02	0.26589	.	0.344420	0.33401	N	0.004953	T	0.36331	0.0963	L	0.55481	1.735	0.35337	D	0.786107	D	0.63046	0.992	P	0.59357	0.856	T	0.45542	-0.9254	10	0.72032	D	0.01	-8.6074	7.9829	0.30194	0.3927:0.0:0.6073:0.0	.	891	Q9NY74	ETAA1_HUMAN	T	891	ENSP00000272342:R891T	ENSP00000272342:R891T	R	+	2	0	ETAA1	67490565	1.000000	0.71417	0.964000	0.40570	0.970000	0.65996	1.007000	0.29860	0.378000	0.24764	-0.218000	0.12543	AGA		PASS	0.338	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		26	162	26	162	---	---	---	---
ETAA1	54465	broad.mit.edu	37	2	67637099	67637099	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:67637099G>C	ENST00000272342.5	+	6	2840	c.2710G>C	c.(2710-2712)Gaa>Caa	p.E904Q		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	904						cytoplasm (GO:0005737)		p.E904Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AAAAAGACAAGAAGCACTGGT	0.353																																						uc002sdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(2710-2712)GAA>CAA		ETAA16 protein							94.0	112.0	106.0					2																	67637099		2203	4300	6503	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67637099G>C	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2710G>C	2.37:g.67637099G>C	ENSP00000272342:p.Glu904Gln						p.E904Q	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			6	2849	+			904					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2710G>C	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443073	0.83993	.	.	ENSG00000143971	ENST00000272342	T	0.24723	1.84	5.98	5.98	0.97165	.	0.055442	0.64402	D	0.000002	T	0.50701	0.1631	M	0.66939	2.045	0.44181	D	0.996996	D	0.67145	0.996	D	0.66497	0.944	T	0.45454	-0.9260	10	0.72032	D	0.01	-0.0037	19.0158	0.92894	0.0:0.0:1.0:0.0	.	904	Q9NY74	ETAA1_HUMAN	Q	904	ENSP00000272342:E904Q	ENSP00000272342:E904Q	E	+	1	0	ETAA1	67490603	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.873000	0.69644	2.838000	0.97847	0.591000	0.81541	GAA		PASS	0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		31	155	31	155	---	---	---	---
INO80B	83444	broad.mit.edu	37	2	74684855	74684855	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:74684855C>G	ENST00000233331.7	+	5	1029	c.935C>G	c.(934-936)cCc>cGc	p.P312R	WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000393972.3_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	312					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.P312R(1)|p.P299R(1)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						TGCTCTGTCCCCGGCTGTCCC	0.701																																						uc002slg.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(934-936)CCC>CGC		high mobility group AT-hook 1-like 4							14.0	15.0	15.0					2																	74684855		2167	4252	6419	SO:0001583	missense	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74684855C>G	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.935C>G	2.37:g.74684855C>G	ENSP00000233331:p.Pro312Arg					INO80B_uc002slf.1_3'UTR|INO80B_uc010yrr.1_Missense_Mutation_p.P284R|WBP1_uc002slh.1_Intron|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.P330R|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank	p.P312R	NM_031288	NP_112578	Q9C086	IN80B_HUMAN			5	980	+			312			HIT-type.			Missense_Mutation	SNP	ENST00000233331.7	37	c.935C>G	CCDS1942.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059942	0.76074	.	.	ENSG00000115274	ENST00000233331	T	0.50277	0.75	4.97	4.97	0.65823	Zinc finger, HIT-type (1);	0.318932	0.32987	N	0.005406	T	0.59390	0.2190	L	0.43152	1.355	0.80722	D	1	D;D;D	0.64830	0.994;0.985;0.985	D;P;P	0.63703	0.917;0.703;0.766	T	0.59899	-0.7367	10	0.59425	D	0.04	-22.7085	16.1123	0.81271	0.0:1.0:0.0:0.0	.	330;297;312	B4DJ31;B4DJ22;Q9C086	.;.;IN80B_HUMAN	R	312	ENSP00000233331:P312R	ENSP00000233331:P312R	P	+	2	0	INO80B	74538363	0.001000	0.12720	0.980000	0.43619	0.951000	0.60555	1.544000	0.36158	2.739000	0.93911	0.561000	0.74099	CCC		PASS	0.701	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		4	38	4	38	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141816564	141816564	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:141816564A>T	ENST00000389484.3	-	9	2267	c.1296T>A	c.(1294-1296)gaT>gaA	p.D432E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	432					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D432E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTGTAGTTATCAGAATTGG	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1294-1296)GAT>GAA		low density lipoprotein-related protein 1B							96.0	100.0	99.0					2																	141816564		2202	4299	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141816564A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1296T>A	2.37:g.141816564A>T	ENSP00000374135:p.Asp432Glu	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.D432E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	9	2268	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	432			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1296T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307482	0.40795	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91295	-2.82	5.7	1.88	0.25563	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.134734	0.48767	U	0.000170	T	0.75932	0.3917	N	0.11845	0.185	0.28038	N	0.933862	B	0.15141	0.012	B	0.12156	0.007	T	0.59674	-0.7410	10	0.08837	T	0.75	.	6.01	0.19569	0.6573:0.0:0.2296:0.1132	.	432	Q9NZR2	LRP1B_HUMAN	E	432;370	ENSP00000374135:D432E	ENSP00000374135:D432E	D	-	3	2	LRP1B	141533034	1.000000	0.71417	0.990000	0.47175	0.775000	0.43874	0.934000	0.28910	0.097000	0.17492	0.379000	0.24179	GAT		PASS	0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	86	20	86	---	---	---	---
KANSL1L	151050	broad.mit.edu	37	2	210889937	210889937	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:210889937C>G	ENST00000281772.9	-	13	2718	c.2455G>C	c.(2455-2457)Gaa>Caa	p.E819Q	KANSL1L_ENST00000418791.1_Missense_Mutation_p.E777Q	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	819						histone acetyltransferase complex (GO:0000123)		p.E819Q(1)									GAAAGATCTTCTATCTGGAAT	0.408																																						uc002vds.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2455-2457)GAA>CAA		hypothetical protein LOC151050							75.0	77.0	76.0					2																	210889937		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210889937C>G	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2455G>C	2.37:g.210889937C>G	ENSP00000281772:p.Glu819Gln					C2orf67_uc002vdt.2_Missense_Mutation_p.E777Q	p.E819Q	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	13	2663	-		Renal(323;0.202)	819					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2455G>C	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217091	0.79352	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	T;T	0.81163	-1.46;-1.46	5.3	5.3	0.74995	.	0.000000	0.56097	D	0.000023	D	0.89722	0.6797	M	0.74881	2.28	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	D	0.90551	0.4509	10	0.87932	D	0	.	18.9274	0.92550	0.0:1.0:0.0:0.0	.	777;819	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	Q	819;777	ENSP00000281772:E819Q;ENSP00000405724:E777Q	ENSP00000281772:E819Q	E	-	1	0	C2orf67	210598182	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.634000	0.67833	2.636000	0.89361	0.591000	0.81541	GAA		PASS	0.408	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		13	67	13	67	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7721866	7721866	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr3:7721866G>A	ENST00000357716.4	+	9	2856	c.2582G>A	c.(2581-2583)cGa>cAa	p.R861Q	GRM7_ENST00000389336.4_Missense_Mutation_p.R861Q|GRM7_ENST00000402647.2_Missense_Mutation_p.R861Q|GRM7_ENST00000403881.1_Missense_Mutation_p.R861Q|GRM7_ENST00000486284.1_Missense_Mutation_p.R861Q	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	861					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.R861Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AAACGGAAGCGAAGCTTCAAG	0.517																																						uc003bqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)	7						c.(2581-2583)CGA>CAA		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						95.0	77.0	83.0					3																	7721866		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7721866G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2582G>A	3.37:g.7721866G>A	ENSP00000350348:p.Arg861Gln					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R861Q|GRM7_uc003bql.2_Missense_Mutation_p.R861Q|GRM7_uc003bqn.1_Missense_Mutation_p.R444Q	p.R861Q	NM_000844	NP_000835	Q14831	GRM7_HUMAN			9	2856	+			861			Cytoplasmic (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2582G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924095	0.92319	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647	D;D;D;D;D	0.89681	-2.52;-2.55;-2.55;-2.55;-2.55	5.17	5.17	0.71159	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93667	0.7977	M	0.72353	2.195	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.994;0.997;0.984	D;P;D;P	0.72982	0.979;0.885;0.953;0.706	D	0.92913	0.6349	10	0.40728	T	0.16	.	17.5976	0.88016	0.0:0.0:1.0:0.0	.	861;616;861;861	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	Q	861	ENSP00000350348:R861Q;ENSP00000417536:R861Q;ENSP00000373987:R861Q;ENSP00000385664:R861Q;ENSP00000384585:R861Q	ENSP00000350348:R861Q	R	+	2	0	GRM7	7696866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.562000	0.86427	0.585000	0.79938	CGA		PASS	0.517	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		5	98	5	98	---	---	---	---
HRH1	3269	broad.mit.edu	37	3	11301122	11301122	+	Silent	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr3:11301122C>T	ENST00000397056.1	+	3	590	c.399C>T	c.(397-399)ctC>ctT	p.L133L	HRH1_ENST00000431010.2_Silent_p.L133L|HRH1_ENST00000438284.2_Silent_p.L133L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	133					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.L133L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	AGCAGCCCCTCAGGTACCTTA	0.532																																						uc010hdr.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(397-399)CTC>CTT		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						140.0	140.0	140.0					3																	11301122		2203	4300	6503	SO:0001819	synonymous_variant	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301122C>T		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.399C>T	3.37:g.11301122C>T						HRH1_uc010hds.2_Silent_p.L133L|HRH1_uc010hdt.2_Silent_p.L133L|HRH1_uc003bwb.3_Silent_p.L133L	p.L133L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	741	+			133			Cytoplasmic (Potential).		A8K047|Q6P9E5	Silent	SNP	ENST00000397056.1	37	c.399C>T	CCDS2604.1																																																																																				PASS	0.532	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			32	157	32	157	---	---	---	---
SEMA3G	56920	broad.mit.edu	37	3	52476317	52476317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr3:52476317C>A	ENST00000231721.2	-	4	342	c.343G>T	c.(343-345)Gag>Tag	p.E115*		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	115	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.E115*(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TTGGCGCACTCTGTCTGCGGG	0.662																																						uc003dea.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(343-345)GAG>TAG		semaphorin sem2 precursor							50.0	50.0	50.0					3																	52476317		2203	4300	6503	SO:0001587	stop_gained	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52476317C>A		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.343G>T	3.37:g.52476317C>A	ENSP00000231721:p.Glu115*						p.E115*	NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	4	343	-			115			Sema.		Q7L9D9|Q9H7Q3	Nonsense_Mutation	SNP	ENST00000231721.2	37	c.343G>T	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319262	0.41096	.	.	ENSG00000010319	ENST00000231721;ENST00000475739	.	.	.	4.67	4.67	0.58626	.	0.052002	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3386	0.87289	0.0:1.0:0.0:0.0	.	.	.	.	X	115;133	.	ENSP00000231721:E115X	E	-	1	0	SEMA3G	52451357	1.000000	0.71417	0.952000	0.39060	0.144000	0.21451	5.623000	0.67757	2.437000	0.82529	0.561000	0.74099	GAG		PASS	0.662	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		23	74	23	74	---	---	---	---
CLRN1	7401	broad.mit.edu	37	3	150659416	150659416	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr3:150659416T>C	ENST00000327047.1	-	2	676	c.386A>G	c.(385-387)gAa>gGa	p.E129G	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Missense_Mutation_p.E53G|RP11-166N6.3_ENST00000569170.1_Missense_Mutation_p.K39E|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.E129G	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	129					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)		p.E53G(1)|p.E129G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATGCAGAGTTTCAAAAGGTTT	0.408																																						uc003eyk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(385-387)GAA>GGA		clarin 1 isoform a							103.0	101.0	101.0					3																	150659416		2203	4300	6503	SO:0001583	missense	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150659416T>C	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.386A>G	3.37:g.150659416T>C	ENSP00000322280:p.Glu129Gly					CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.E53G|CLRN1_uc010hvj.1_RNA	p.E129G	NM_174878	NP_777367	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	677	-			129					D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	c.386A>G	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.278576	0.59758	.	.	ENSG00000163646	ENST00000295911;ENST00000327047;ENST00000328863;ENST00000468836;ENST00000485607	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.1	5.1	0.69264	.	0.099232	0.64402	D	0.000002	D	0.89546	0.6746	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.927;0.997	D	0.90635	0.4570	10	0.72032	D	0.01	-18.5165	15.1742	0.72899	0.0:0.0:0.0:1.0	.	129;53	P58418;P58418-1	CLRN1_HUMAN;.	G	53;129;129;53;17	ENSP00000295911:E53G;ENSP00000322280:E129G;ENSP00000329158:E129G;ENSP00000419892:E53G;ENSP00000419244:E17G	ENSP00000295911:E53G	E	-	2	0	CLRN1	152142106	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.852000	0.75430	2.041000	0.60428	0.533000	0.62120	GAA		PASS	0.408	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			12	70	12	70	---	---	---	---
C3orf70	285382	broad.mit.edu	37	3	184801052	184801052	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr3:184801052C>A	ENST00000335012.2	-	2	686	c.496G>T	c.(496-498)Gat>Tat	p.D166Y		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	166								p.D166Y(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ATTAAGGCATCGTGTGCAGAG	0.458																																						uc003fpd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)GAT>TAT		hypothetical protein LOC285382							105.0	102.0	103.0					3																	184801052		2203	4300	6503	SO:0001583	missense	285382							g.chr3:184801052C>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.496G>T	3.37:g.184801052C>A	ENSP00000334974:p.Asp166Tyr						p.D166Y	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			2	687	-			166					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.496G>T	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875467	0.33162	.	.	ENSG00000187068	ENST00000335012	.	.	.	4.92	3.1	0.35709	.	0.417900	0.28047	N	0.016807	T	0.28764	0.0713	N	0.08118	0	0.41042	D	0.985232	B	0.28933	0.228	B	0.28465	0.09	T	0.09930	-1.0652	9	0.72032	D	0.01	.	5.7333	0.18053	0.0:0.628:0.1565:0.2156	.	166	A6NLC5	CC070_HUMAN	Y	166	.	ENSP00000334974:D166Y	D	-	1	0	C3orf70	186283746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.500000	0.35682	0.478000	0.27488	0.655000	0.94253	GAT		PASS	0.458	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		12	142	12	142	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186358473	186358473	+	Splice_Site	SNP	G	G	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr3:186358473G>T	ENST00000265029.3	+	1	325	c.224G>T	c.(223-225)cGg>cTg	p.R75L	FETUB_ENST00000382134.3_Missense_Mutation_p.R75L|FETUB_ENST00000382136.3_Splice_Site_p.R75L|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Splice_Site_p.R75L|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	75	Cystatin fetuin-B-type 1. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.R75L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAATACAGACGGGCAAGTAGG	0.567																																						uc010hyq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(223-225)CGG>CTG		fetuin B precursor							82.0	88.0	86.0					3																	186358473		2203	4300	6503	SO:0001630	splice_region_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186358473G>T	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.225+1G>T	3.37:g.186358473G>T						FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.R75L|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Missense_Mutation_p.R75L|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Missense_Mutation_p.R75L	p.R75L	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	2	485	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		75			Cystatin fetuin-B-type 1.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.224G>T	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.012921	0.35511	.	.	ENSG00000090512	ENST00000450521;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T	0.14022	2.54;2.54;2.62;2.57	5.05	5.05	0.67936	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.224837	0.31734	N	0.007150	T	0.14056	0.0340	L	0.36672	1.1	0.80722	D	1	B;P;B	0.52061	0.164;0.95;0.287	B;P;B	0.46320	0.026;0.512;0.139	T	0.01819	-1.1267	10	0.72032	D	0.01	-8.2974	8.2121	0.31490	0.9076:0.0:0.0924:0.0	.	75;75;75	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	L	75	ENSP00000404288:R75L;ENSP00000265029:R75L;ENSP00000371569:R75L;ENSP00000371571:R75L	ENSP00000265029:R75L	R	+	2	0	FETUB	187841167	0.999000	0.42202	0.913000	0.36048	0.053000	0.15095	3.176000	0.50863	1.021000	0.39600	-0.254000	0.11334	CGG		PASS	0.567	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375	Missense_Mutation	41	203	41	203	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195954570	195954570	+	Silent	SNP	C	C	T	rs371651472		TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr3:195954570C>T	ENST00000296327.5	+	4	533	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	108					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.I108I(1)								Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	GTCTCTGGATCCCTCGTTCCC	0.642																																						uc003fwd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(322-324)ATC>ATT		organic solute transporter alpha		C		0,4406		0,0,2203	248.0	186.0	207.0		324	0.1	1.0	3		207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OSTalpha	NM_152672.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		108/341	195954570	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	200931					integral to membrane|plasma membrane	transporter activity	g.chr3:195954570C>T		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.324C>T	3.37:g.195954570C>T						OSTalpha_uc010iac.1_5'UTR|OSTalpha_uc003fwe.2_5'Flank	p.I108I	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)	4	525	+	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		108			Helical; (Potential).		Q6ZMC7	Silent	SNP	ENST00000296327.5	37	c.324C>T	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334162	0.24253	0.0	1.16E-4	ENSG00000163959	ENST00000428985	.	.	.	5.32	0.0652	0.14356	.	.	.	.	.	T	0.50973	0.1647	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35276	-0.9795	4	.	.	.	.	5.5769	0.17228	0.1255:0.5749:0.0:0.2996	.	.	.	.	F	121	.	.	S	+	2	0	AC069257.9	197438967	0.972000	0.33761	0.995000	0.50966	0.969000	0.65631	-0.050000	0.11904	-0.173000	0.10761	-0.466000	0.05196	TCC		PASS	0.642	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		15	107	15	107	---	---	---	---
DSPP	1834	broad.mit.edu	37	4	88534399	88534399	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr4:88534399G>A	ENST00000282478.7	+	3	1094	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	DSPP_ENST00000399271.1_Missense_Mutation_p.R354H|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	354					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.R354H(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAAAGCAAACGCGTAGAAAAT	0.418																																						uc003hqu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1060-1062)CGC>CAC		dentin sialophosphoprotein preproprotein							38.0	37.0	37.0					4																	88534399		1880	4086	5966	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534399G>A	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1061G>A	4.37:g.88534399G>A	ENSP00000282478:p.Arg354His						p.R354H	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	1181	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	354					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.1061G>A	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755598	0.15846	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87334	-2.24;-2.24	4.68	-2.77	0.05877	.	.	.	.	.	T	0.67107	0.2858	N	0.08118	0	0.09310	N	1	P	0.38048	0.616	B	0.34722	0.188	T	0.59747	-0.7396	9	0.41790	T	0.15	4.8047	2.7812	0.05361	0.2853:0.1333:0.4754:0.106	.	354	Q9NZW4	DSPP_HUMAN	H	354	ENSP00000382213:R354H;ENSP00000282478:R354H	ENSP00000282478:R354H	R	+	2	0	DSPP	88753423	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.840000	0.04363	-1.064000	0.03172	0.557000	0.71058	CGC		PASS	0.418	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		21	37	21	37	---	---	---	---
LRRC14B	389257	broad.mit.edu	37	5	195433	195433	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr5:195433G>C	ENST00000328278.3	+	2	1538	c.1510G>C	c.(1510-1512)Gaa>Caa	p.E504Q	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	504								p.E516Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						AACTGCTCTAGAAAACTTCTC	0.478																																						uc003jal.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1510-1512)GAA>CAA		leucine rich repeat containing 14B							42.0	42.0	42.0					5																	195433		1933	4147	6080	SO:0001583	missense	389257							g.chr5:195433G>C		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1510G>C	5.37:g.195433G>C	ENSP00000327675:p.Glu504Gln						p.E504Q	NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN			2	1538	+			504						Missense_Mutation	SNP	ENST00000328278.3	37	c.1510G>C	CCDS47184.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656592	0.29425	.	.	ENSG00000185028	ENST00000328278	T	0.01484	4.84	5.43	5.43	0.79202	.	0.178222	0.49305	D	0.000149	T	0.03520	0.0101	L	0.57536	1.79	0.33596	D	0.601737	B	0.29590	0.25	B	0.29785	0.107	T	0.17107	-1.0380	10	0.45353	T	0.12	.	16.733	0.85440	0.0:0.0:1.0:0.0	.	504	A6NHZ5	LR14B_HUMAN	Q	504	ENSP00000327675:E504Q	ENSP00000327675:E504Q	E	+	1	0	LRRC14B	248433	1.000000	0.71417	0.919000	0.36401	0.056000	0.15407	3.949000	0.56668	2.565000	0.86533	0.561000	0.74099	GAA		PASS	0.478	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		5	100	5	100	---	---	---	---
C5orf22	55322	broad.mit.edu	37	5	31538616	31538616	+	Silent	SNP	G	G	A	rs145324653		TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr5:31538616G>A	ENST00000325366.9	+	4	754	c.627G>A	c.(625-627)caG>caA	p.Q209Q	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	209								p.Q209Q(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CAGCAACACAGAGAAGTGACC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19171	0.0		0.001	False		,,,				2504	0.0					uc003jhj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(625-627)CAG>CAA		hypothetical protein LOC55322		G		0,4406		0,0,2203	71.0	67.0	68.0		627	2.4	0.0	5	dbSNP_134	68	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	C5orf22	NM_018356.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		209/443	31538616	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	55322							g.chr5:31538616G>A	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.627G>A	5.37:g.31538616G>A						C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	p.Q209Q	NM_018356	NP_060826	Q49AR2	CE022_HUMAN			4	754	+			209					Q8ND28|Q8WU61|Q9NUR1	Silent	SNP	ENST00000325366.9	37	c.627G>A	CCDS3895.1																																																																																				PASS	0.453	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		12	76	12	76	---	---	---	---
SLC45A2	51151	broad.mit.edu	37	5	33963987	33963987	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr5:33963987G>A	ENST00000296589.4	-	3	843	c.697C>T	c.(697-699)Cat>Tat	p.H233Y	SLC45A2_ENST00000342059.3_Missense_Mutation_p.H174Y|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000382102.3_Missense_Mutation_p.H233Y	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	233					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.H233Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGCACAGATGAACAGTAAAA	0.488																																					Ovarian(31;380 859 8490 22203 49048)	uc003jid.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(697-699)CAT>TAT		membrane-associated transporter protein isoform							112.0	113.0	113.0					5																	33963987		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33963987G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.697C>T	5.37:g.33963987G>A	ENSP00000296589:p.His233Tyr					SLC45A2_uc003jie.2_Missense_Mutation_p.H233Y|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron	p.H233Y	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			3	789	-			233			Helical; Name=6; (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.697C>T	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297328	0.81025	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	D;T;D;D	0.94417	-3.42;-1.36;-3.42;-3.42	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	M	0.85197	2.74	0.80722	D	1	D;D	0.69078	0.997;0.965	D;P	0.66847	0.947;0.908	D	0.97606	1.0126	10	0.72032	D	0.01	-25.1529	19.1077	0.93303	0.0:0.0:1.0:0.0	.	233;233	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	Y	233;174;233;58	ENSP00000296589:H233Y;ENSP00000341014:H174Y;ENSP00000371534:H233Y;ENSP00000424010:H58Y	ENSP00000296589:H233Y	H	-	1	0	SLC45A2	33999744	1.000000	0.71417	0.966000	0.40874	0.835000	0.47333	8.493000	0.90474	2.814000	0.96858	0.563000	0.77884	CAT		PASS	0.488	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		24	142	24	142	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35957443	35957443	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr5:35957443G>C	ENST00000274278.3	-	5	1279	c.922C>G	c.(922-924)Cag>Gag	p.Q308E	UGT3A1_ENST00000503189.1_Missense_Mutation_p.Q308E|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.Q274E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	308						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.Q308E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTGGGACTGATGGGTGTTC	0.488																																						uc003jjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(922-924)CAG>GAG		UDP glycosyltransferase 3 family, polypeptide A1							116.0	99.0	105.0					5																	35957443		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35957443G>C		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.922C>G	5.37:g.35957443G>C	ENSP00000274278:p.Gln308Glu					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.Q308E|UGT3A1_uc011cor.1_Missense_Mutation_p.Q274E	p.Q308E	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1079	-	all_lung(31;0.000197)		308			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.922C>G	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	1.211	-0.629749	0.03610	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.61392	0.11;0.11;0.11	3.28	2.39	0.29439	.	0.614697	0.15382	N	0.265280	T	0.47432	0.1445	L	0.38838	1.175	0.19575	N	0.999961	B;B;B	0.19200	0.034;0.005;0.012	B;B;B	0.18561	0.022;0.012;0.021	T	0.47328	-0.9126	10	0.72032	D	0.01	.	11.8914	0.52630	0.0:0.179:0.821:0.0	.	274;308;308	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	E	308;308;274	ENSP00000274278:Q308E;ENSP00000427079:Q308E;ENSP00000426100:Q274E	ENSP00000274278:Q308E	Q	-	1	0	UGT3A1	35993200	0.000000	0.05858	0.016000	0.15963	0.001000	0.01503	0.445000	0.21677	0.642000	0.30620	-0.463000	0.05309	CAG		PASS	0.488	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		8	96	8	96	---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39383250	39383250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr5:39383250G>A	ENST00000320816.6	-	10	1278	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Nonsense_Mutation_p.Q250*|DAB2_ENST00000545653.1_Nonsense_Mutation_p.Q250*|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	271	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.Q271*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAGGATGCCTGAGGCGTTGGT	0.453																																						uc003jlx.2																			1	Substitution - Nonsense(1)		lung(1)	kidney(2)|skin(1)	3						c.(811-813)CAG>TAG		disabled homolog 2							155.0	165.0	162.0					5																	39383250		2203	4300	6503	SO:0001587	stop_gained	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39383250G>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.811C>T	5.37:g.39383250G>A	ENSP00000313391:p.Gln271*					DAB2_uc003jlw.2_Nonsense_Mutation_p.Q250*	p.Q271*	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1342	-	all_lung(31;0.000197)		271					A6NES5|Q13598|Q9BTY0|Q9UK04	Nonsense_Mutation	SNP	ENST00000320816.6	37	c.811C>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	36	5.822196	0.96989	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	.	.	.	5.87	5.87	0.94306	.	0.572100	0.19011	N	0.125063	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7718	20.193	0.98233	0.0:0.0:1.0:0.0	.	.	.	.	X	271;250;250	.	ENSP00000313391:Q271X	Q	-	1	0	DAB2	39419007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.533000	0.60615	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.453	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		44	184	44	184	---	---	---	---
SEPP1	6414	broad.mit.edu	37	5	42807125	42807125	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr5:42807125G>C	ENST00000514985.1	-	3	545	c.289C>G	c.(289-291)Cga>Gga	p.R97G	CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000507920.1_Intron|SEPP1_ENST00000506577.1_Missense_Mutation_p.R97G|SEPP1_ENST00000511224.1_Missense_Mutation_p.R97G|SEPP1_ENST00000509276.1_Intron	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	97					brain development (GO:0007420)|growth (GO:0040007)|locomotory behavior (GO:0007626)|post-embryonic development (GO:0009791)|response to oxidative stress (GO:0006979)|selenium compound metabolic process (GO:0001887)|sexual reproduction (GO:0019953)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)	p.R97G(1)		kidney(10)|large_intestine(1)|lung(4)	15						TATTTTAATCGAGAAGAGATT	0.308																																						uc011cps.1																			1	Substitution - Missense(1)		lung(1)		0								Homo sapiens cDNA FLJ37321 fis, clone BRAMY2018122.							100.0	96.0	97.0					5																	42807125		1797	4062	5859	SO:0001583	missense	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42807125G>C	BC040075	CCDS43311.1	5q31	2012-03-01				ENSG00000250722			10751	protein-coding gene	gene with protein product		601484				8421687	Standard	NM_001085486		Approved	SeP	uc011cpu.2	P49908		ENST00000514985.1:c.289C>G	5.37:g.42807125G>C	ENSP00000420939:p.Arg97Gly					SEPP1_uc011cpt.1_RNA|SEPP1_uc011cpu.1_RNA|SEPP1_uc011cpv.1_RNA|SEPP1_uc003jna.2_RNA				P49908	SEPP1_HUMAN			4		-								Q6PD59|Q6PI43|Q6PI87|Q6PJF9	RNA	SNP	ENST00000514985.1	37	c.477C>G	CCDS43311.1	.	.	.	.	.	.	.	.	.	.	G	9.531	1.110862	0.20714	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218;ENST00000510965	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.49	4.62	0.57501	.	0.786906	0.10335	U	0.687026	T	0.47655	0.1457	L	0.43152	1.355	0.80722	D	1	.	.	.	.	.	.	T	0.34576	-0.9823	8	0.62326	D	0.03	.	15.7446	0.77929	0.0:0.0:0.8624:0.1376	.	.	.	.	G	97	ENSP00000420939:R97G;ENSP00000427671:R97G;ENSP00000425915:R97G;ENSP00000421626:R97G;ENSP00000427414:R97G	ENSP00000425915:R97G	R	-	1	2	SEPP1	42842882	1.000000	0.71417	0.271000	0.24616	0.064000	0.16182	8.207000	0.89746	1.309000	0.44985	-0.175000	0.13238	CGA		PASS	0.308	SEPP1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000367483.1	NM_005410		11	118	11	118	---	---	---	---
PAM	5066	broad.mit.edu	37	5	102309957	102309957	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr5:102309957G>C	ENST00000438793.3	+	14	1770	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	PAM_ENST00000274392.9_Missense_Mutation_p.D337H|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Missense_Mutation_p.D434H|PAM_ENST00000455264.2_Missense_Mutation_p.D434H|PAM_ENST00000346918.2_Missense_Mutation_p.D434H|PAM_ENST00000348126.2_Intron	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	434	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.D434H(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CCAAAAAAAGGATCTTGGTCG	0.418																																						uc003knw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1300-1302)GAT>CAT		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						135.0	119.0	125.0					5																	102309957		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102309957G>C	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1300G>C	5.37:g.102309957G>C	ENSP00000396493:p.Asp434His					PAM_uc003kns.2_Intron|PAM_uc003knt.2_Missense_Mutation_p.D434H|PAM_uc003knu.2_Missense_Mutation_p.D434H|PAM_uc003knv.2_Missense_Mutation_p.D434H|PAM_uc011cuz.1_Missense_Mutation_p.D337H|PAM_uc003knx.1_Intron|PAM_uc003kny.1_RNA	p.D434H	NM_000919	NP_000910	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	14	1673	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	434			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.1300G>C	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.237108|4.237108	0.79800|0.79800	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000304400;ENST00000274392;ENST00000455264;ENST00000432578|ENST00000379799	T;T;T;T;T|.	0.64991|.	0.75;0.63;0.75;-0.13;0.64|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73644|0.73644	0.3613|0.3613	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.83275|.	0.996;0.99;0.996;0.965;0.996|.	T|T	0.69423|0.69423	-0.5149|-0.5149	10|5	0.51188|.	T|.	0.08|.	.|.	20.0246|20.0246	0.97519|0.97519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	337;434;434;434;434|.	F8WE90;P19021;P19021-4;P19021-3;P19021-5|.	.;AMD_HUMAN;.;.;.|.	H|A	434;434;434;337;434;77|206	ENSP00000396493:D434H;ENSP00000282992:D434H;ENSP00000306100:D434H;ENSP00000274392:D337H;ENSP00000403461:D434H|.	ENSP00000274392:D337H|.	D|G	+|+	1|2	0|0	PAM|PAM	102337856|102337856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	8.322000|8.322000	0.90000|0.90000	2.810000|2.810000	0.96702|0.96702	0.650000|0.650000	0.86243|0.86243	GAT|GGA		PASS	0.418	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		20	87	20	87	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905808	139905808	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr5:139905808G>A	ENST00000360839.2	+	26	4874	c.4720G>A	c.(4720-4722)Gat>Aat	p.D1574N	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_5'UTR|ANKHD1_ENST00000297183.6_Missense_Mutation_p.D1574N|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D1574N	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1574						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.D1574N(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAAAGGCAGATAAAAATAA	0.393																																						uc003lfs.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(4720-4722)GAT>AAT		ANKHD1-EIF4EBP3 protein							125.0	144.0	138.0					5																	139905808		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139905808G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4720G>A	5.37:g.139905808G>A	ENSP00000354085:p.Asp1574Asn					ANKHD1_uc003lfr.2_Missense_Mutation_p.D1574N|ANKHD1_uc003lfu.1_Missense_Mutation_p.D1054N|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.D313N|ANKHD1_uc003lfw.2_Missense_Mutation_p.D212N|ANKHD1_uc010jfl.2_Missense_Mutation_p.D9N|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	p.D1574N	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4844	+			1574					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.4720G>A	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.783253|4.783253	0.90282|0.90282	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000532219|ENST00000435794;ENST00000432301	T;T;T;T;T|.	0.22743|.	1.94;1.94;1.94;1.94;1.94|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67951|0.67951	0.2948|0.2948	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.993;1.0;0.996;0.993;0.993|.	P;D;D;D;D|.	0.80764|.	0.823;0.994;0.993;0.984;0.984|.	T|T	0.64071|0.64071	-0.6493|-0.6493	10|5	0.22706|.	T|.	0.39|.	.|.	18.9177|18.9177	0.92512|0.92512	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4;1574;1574;1574;1574|.	Q9H059;E9PF56;Q8IWZ3-4;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	N|K	1574;1574;1574;230;9;96;1574|64;24	ENSP00000354085:D1574N;ENSP00000297183:D1574N;ENSP00000393204:D230N;ENSP00000390034:D96N;ENSP00000432016:D1574N|.	ENSP00000432016:D1574N|.	D|R	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139885992|139885992	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	9.416000|9.416000	0.97383|0.97383	2.477000|2.477000	0.83638|0.83638	0.460000|0.460000	0.39030|0.39030	GAT|AGA		PASS	0.393	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		29	158	29	158	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558690	140558690	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr5:140558690G>C	ENST00000239444.2	+	1	1320	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	359	Cadherin 4. {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.E359Q(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAATACCTGAGAATGCGCC	0.448																																						uc011dai.1																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1075-1077)GAG>CAG		protocadherin beta 8 precursor							231.0	302.0	278.0					5																	140558690		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558690G>C	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1075G>C	5.37:g.140558690G>C	ENSP00000239444:p.Glu359Gln					PCDHB16_uc003liv.2_5'Flank	p.E359Q	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1261	+			359			Cadherin 4.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1075G>C	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396209	0.42512	.	.	ENSG00000120322	ENST00000239444	T	0.75938	-0.98	4.25	4.25	0.50352	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.93093	0.7801	H	0.99903	4.92	0.45318	D	0.998318	D	0.89917	1.0	D	0.97110	1.0	D	0.96726	0.9536	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	359	Q9UN66	PCDB8_HUMAN	Q	359	ENSP00000239444:E359Q	ENSP00000239444:E359Q	E	+	1	0	PCDHB8	140538874	1.000000	0.71417	0.085000	0.20634	0.039000	0.13416	9.813000	0.99286	1.911000	0.55334	0.585000	0.79938	GAG		PASS	0.448	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		21	555	21	555	---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148680751	148680751	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr5:148680751A>C	ENST00000296721.4	+	4	383	c.285A>C	c.(283-285)aaA>aaC	p.K95N	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.K95N|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	95						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K95N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCAGCAAAGGAGCCAGCC	0.597																																						uc003lqh.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(283-285)AAA>AAC		actin filament associated protein 1-like 1							105.0	98.0	100.0					5																	148680751		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148680751A>C	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.285A>C	5.37:g.148680751A>C	ENSP00000296721:p.Lys95Asn					AFAP1L1_uc003lqg.3_Missense_Mutation_p.K95N|AFAP1L1_uc010jgy.2_Missense_Mutation_p.K95N	p.K95N	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	416	+			95					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.285A>C	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	A	6.300	0.423421	0.11928	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.33216	1.42;1.42	5.01	1.4	0.22301	.	0.442714	0.26380	N	0.024713	T	0.13200	0.0320	L	0.33485	1.01	0.22531	N	0.999015	B;P;P	0.38078	0.029;0.483;0.617	B;B;B	0.30855	0.041;0.057;0.121	T	0.28776	-1.0033	10	0.02654	T	1	-11.0296	5.3345	0.15949	0.3942:0.187:0.4188:0.0	.	95;95;95	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	N	95	ENSP00000296721:K95N;ENSP00000424427:K95N	ENSP00000296721:K95N	K	+	3	2	AFAP1L1	148660944	0.960000	0.32886	0.877000	0.34402	0.972000	0.66771	0.380000	0.20602	0.283000	0.22279	0.459000	0.35465	AAA		PASS	0.597	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		20	86	20	86	---	---	---	---
IL12B	3593	broad.mit.edu	37	5	158750298	158750298	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr5:158750298C>G	ENST00000231228.2	-	3	583	c.128G>C	c.(127-129)gGa>gCa	p.G43A		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	43	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)	p.G43A(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACCATTTCTCCAGGGGCATC	0.512																																						uc003lxr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)GGA>GCA		interleukin 12B precursor							81.0	73.0	76.0					5																	158750298		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158750298C>G	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.128G>C	5.37:g.158750298C>G	ENSP00000231228:p.Gly43Ala						p.G43A	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	170	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	43			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000231228.2	37	c.128G>C	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	C	9.489	1.100299	0.20552	.	.	ENSG00000113302	ENST00000231228	T	0.40225	1.04	6.02	5.14	0.70334	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.417505	0.27927	N	0.017288	T	0.33411	0.0862	L	0.41124	1.26	0.36384	D	0.862081	B	0.18013	0.025	B	0.13407	0.009	T	0.23332	-1.0191	10	0.32370	T	0.25	-7.1493	11.7526	0.51857	0.0:0.7764:0.2236:0.0	.	43	P29460	IL12B_HUMAN	A	43	ENSP00000231228:G43A	ENSP00000231228:G43A	G	-	2	0	IL12B	158682876	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	2.877000	0.48506	2.865000	0.98341	0.655000	0.94253	GGA		PASS	0.512	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		8	51	8	51	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12161695	12161695	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr6:12161695G>C	ENST00000379388.2	+	8	6843	c.6511G>C	c.(6511-6513)Gag>Cag	p.E2171Q	HIVEP1_ENST00000541134.1_Missense_Mutation_p.E36Q	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2171					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E2171Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATTCAGTTATGAGCGATCTGG	0.383																																						uc003nac.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6511-6513)GAG>CAG		human immunodeficiency virus type I enhancer							86.0	93.0	91.0					6																	12161695		1943	4144	6087	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161695G>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6511G>C	6.37:g.12161695G>C	ENSP00000368698:p.Glu2171Gln					HIVEP1_uc011diq.1_RNA	p.E2171Q	NM_002114	NP_002105	P15822	ZEP1_HUMAN			8	6690	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2171					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.6511G>C	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.629130	0.87560	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.32515	2.87;1.45	5.77	5.77	0.91146	.	0.000000	0.35013	N	0.003517	T	0.48519	0.1504	M	0.84433	2.695	0.50313	D	0.999867	D	0.59357	0.985	P	0.55303	0.773	T	0.51276	-0.8726	10	0.48119	T	0.1	-26.7108	19.9827	0.97334	0.0:0.0:1.0:0.0	.	2171	P15822	ZEP1_HUMAN	Q	2171;98;36;153	ENSP00000368698:E2171Q;ENSP00000445617:E36Q	ENSP00000368698:E2171Q	E	+	1	0	HIVEP1	12269681	1.000000	0.71417	0.956000	0.39512	0.574000	0.36063	4.764000	0.62264	2.728000	0.93425	0.655000	0.94253	GAG		PASS	0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		25	140	25	140	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17781126	17781126	+	Silent	SNP	T	T	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr6:17781126T>A	ENST00000259711.6	-	31	3786	c.3681A>T	c.(3679-3681)acA>acT	p.T1227T	KIF13A_ENST00000378814.5_Silent_p.T1214T|KIF13A_ENST00000378826.2_Silent_p.T1227T|KIF13A_ENST00000378816.5_Silent_p.T1227T|KIF13A_ENST00000378843.2_Silent_p.T1214T	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1227					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.T1227T(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)			CCCAAGAGGCTGTGGCTGAAA	0.408																																						uc003ncg.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(3679-3681)ACA>ACT		kinesin family member 13A isoform a							92.0	89.0	90.0					6																	17781126		1922	4143	6065	SO:0001819	synonymous_variant	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.chr6:17781126T>A	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.3681A>T	6.37:g.17781126T>A						KIF13A_uc003ncf.2_Silent_p.T1214T|KIF13A_uc003nch.3_Silent_p.T1227T|KIF13A_uc003nci.3_Silent_p.T1214T|KIF13A_uc003nce.1_5'Flank	p.T1227T	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		31	3786	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1227					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.3681A>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.397076	0.25205	.	.	ENSG00000137177	ENST00000358380	.	.	.	5.57	-5.04	0.02964	.	.	.	.	.	T	0.20333	0.0489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43048	-0.9415	4	.	.	.	.	1.7584	0.02987	0.2968:0.076:0.2856:0.3416	.	.	.	.	L	621	.	.	Q	-	2	0	KIF13A	17889105	0.643000	0.27269	0.978000	0.43139	0.944000	0.59088	0.327000	0.19663	-0.395000	0.07715	0.448000	0.29417	CAG		PASS	0.408	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			12	78	12	78	---	---	---	---
KDM1B	221656	broad.mit.edu	37	6	18207729	18207729	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr6:18207729C>T	ENST00000297792.5	+	12	1241	c.1064C>T	c.(1063-1065)gCa>gTa	p.A355V	KDM1B_ENST00000388870.2_Missense_Mutation_p.A587V|KDM1B_ENST00000397244.1_Missense_Mutation_p.A355V|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	587	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.A355V(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GAAAAACTGGCAGAAGGGCTT	0.517																																						uc003nco.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1150-1152)GCA>GTA		amine oxidase (flavin containing) domain 1							94.0	84.0	87.0					6																	18207729		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18207729C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1064C>T	6.37:g.18207729C>T	ENSP00000297792:p.Ala355Val					KDM1B_uc003ncn.1_Missense_Mutation_p.A355V	p.A384V	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			9	1226	+			587					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.1151C>T	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.272533|5.272533	0.95429|0.95429	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	T;T;T|.	0.11495|.	2.77;2.77;2.77|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Amine oxidase (1);|.	0.051543|.	0.85682|.	N|.	0.000000|.	T|.	0.64114|.	0.2569|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D|.	0.63880|.	0.993;0.992|.	P;D|.	0.68765|.	0.863;0.96|.	T|.	0.59506|.	-0.7442|.	10|.	0.54805|.	T|.	0.06|.	-20.5642|-20.5642	19.7013|19.7013	0.96054|0.96054	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	587;355|.	Q8NB78;A2A2C6|.	KDM1B_HUMAN;.|.	V|X	587;355;355;587|404	ENSP00000373522:A587V;ENSP00000380419:A355V;ENSP00000297792:A355V|.	ENSP00000297792:A355V|.	A|Q	+|+	2|1	0|0	KDM1B|KDM1B	18315708|18315708	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.844000|0.844000	0.47949|0.47949	4.763000|4.763000	0.62257|0.62257	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GCA|CAG		PASS	0.517	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		10	81	10	81	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205305	24205305	+	Silent	SNP	T	T	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr6:24205305T>A	ENST00000378454.3	-	8	1249	c.948A>T	c.(946-948)gcA>gcT	p.A316A	DCDC2_ENST00000378450.3_Silent_p.A69A	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	316					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.A316A(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CAGACCTCTCTGCTCCAGCTT	0.423																																						uc003ndx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(946-948)GCA>GCT		doublecortin domain containing 2							228.0	217.0	221.0					6																	24205305		2203	4300	6503	SO:0001819	synonymous_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205305T>A	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.948A>T	6.37:g.24205305T>A						DCDC2_uc003ndy.2_Silent_p.A316A|DCDC2_uc003ndw.2_Silent_p.A67A	p.A316A	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN			8	1250	-		Ovarian(999;0.101)	316					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Silent	SNP	ENST00000378454.3	37	c.948A>T	CCDS4550.1																																																																																				PASS	0.423	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		39	217	39	217	---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31729633	31729633	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr6:31729633C>G	ENST00000375755.3	+	23	2506	c.2220C>G	c.(2218-2220)ttC>ttG	p.F740L	MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000534153.4_Missense_Mutation_p.F757L|MSH5_ENST00000395853.1_Missense_Mutation_p.F414L|MSH5_ENST00000375750.3_Missense_Mutation_p.F740L|SAPCD1_ENST00000425424.1_5'Flank|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.F757L|MSH5_ENST00000375742.3_Missense_Mutation_p.F757L|MSH5_ENST00000375740.3_Missense_Mutation_p.F758L|MSH5_ENST00000375703.3_Missense_Mutation_p.F741L|SAPCD1_ENST00000415669.2_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000431848.2_Missense_Mutation_p.F439L	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	740					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.F126L(1)|p.F741L(1)|p.F757L(1)		breast(1)|ovary(2)|skin(2)	5						ATCTTGTCTTCTTCTATCAGG	0.522								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(1)	3						c.(2218-2220)TTC>TTG	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							186.0	198.0	193.0					6																	31729633		1510	2709	4219	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31729633C>G	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2220C>G	6.37:g.31729633C>G	ENSP00000364908:p.Phe740Leu					MSH5_uc003nwt.1_Missense_Mutation_p.F757L|MSH5_uc003nwu.1_Missense_Mutation_p.F741L|MSH5_uc003nww.1_Missense_Mutation_p.F740L|MSH5_uc003nwx.1_Missense_Mutation_p.F758L|MSH5_uc011dof.1_Missense_Mutation_p.F439L|MSH5_uc003nwy.1_Missense_Mutation_p.F414L|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank	p.F740L	NM_172166	NP_751898	O43196	MSH5_HUMAN			23	2299	+			740					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.2220C>G	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148457	0.78001	.	.	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000491552	D;D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.92	5.05	0.67936	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90013	0.6882	M	0.69823	2.125	0.39492	D	0.968067	D;D;P;D;D	0.71674	0.994;0.998;0.767;0.969;0.996	P;D;P;P;D	0.68943	0.9;0.961;0.56;0.749;0.94	D	0.90970	0.4819	9	0.51188	T	0.08	-18.0584	13.1176	0.59309	0.0:0.9222:0.0:0.0778	.	425;758;740;741;757	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	L	740;757;740;757;741;758;439;414;126	ENSP00000364908:F740L;ENSP00000364894:F757L;ENSP00000364903:F740L;ENSP00000431693:F757L;ENSP00000364855:F741L;ENSP00000364892:F758L;ENSP00000416784:F439L;ENSP00000379194:F414L	ENSP00000364855:F741L	F	+	3	2	MSH5;MSH5-C6orf26	31837612	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.455000	0.35190	1.504000	0.48704	0.655000	0.94253	TTC		PASS	0.522	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			51	246	51	246	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43316086	43316086	+	Silent	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr6:43316086C>T	ENST00000361428.2	-	6	3125	c.3048G>A	c.(3046-3048)tcG>tcA	p.S1016S	ZNF318_ENST00000318149.3_Silent_p.S1016S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1016					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S1016S(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGTTTGAGAACGATGACACTT	0.378																																						uc003oux.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(3046-3048)TCG>TCA		zinc finger protein 318							214.0	219.0	217.0					6																	43316086		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43316086C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3048G>A	6.37:g.43316086C>T						ZNF318_uc003ouw.2_RNA	p.S1016S	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		6	3126	-			1016					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.3048G>A	CCDS4895.2																																																																																				PASS	0.378	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		48	241	48	241	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130415488	130415488	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr6:130415488G>C	ENST00000529410.1	+	20	2191	c.1712G>C	c.(1711-1713)aGa>aCa	p.R571T	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R571T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R546T|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R546T|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R571T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R546T			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	571					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R571T(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CATTTCAAGAGAGCGAGACAT	0.418																																						uc003qbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1711-1713)AGA>ACA		l(3)mbt-like 3 isoform a							80.0	75.0	77.0					6																	130415488		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130415488G>C	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1712G>C	6.37:g.130415488G>C	ENSP00000431962:p.Arg571Thr					L3MBTL3_uc003qbu.2_Missense_Mutation_p.R546T	p.R571T	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	18	1882	+			571					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.1712G>C	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339946	0.41398	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	6.05	1.91	0.25777	.	0.204302	0.56097	D	0.000036	T	0.12774	0.0310	L	0.44542	1.39	0.34264	D	0.680256	B;B	0.25609	0.13;0.037	B;B	0.26517	0.07;0.024	T	0.16541	-1.0399	10	0.09084	T	0.74	.	9.7413	0.40420	0.2822:0.0:0.7178:0.0	.	546;571	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	T	571;546;571;546;546;571	ENSP00000431962:R571T;ENSP00000437185:R546T;ENSP00000354526:R571T;ENSP00000357121:R546T;ENSP00000436706:R546T;ENSP00000357118:R571T	ENSP00000354526:R571T	R	+	2	0	L3MBTL3	130457181	1.000000	0.71417	0.619000	0.29118	0.933000	0.57130	4.044000	0.57361	0.092000	0.17331	-0.157000	0.13467	AGA		PASS	0.418	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		15	61	15	61	---	---	---	---
JAZF1	221895	broad.mit.edu	37	7	27872493	27872493	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr7:27872493G>C	ENST00000283928.5	-	5	823	c.658C>G	c.(658-660)Cag>Gag	p.Q220E	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	220					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)	p.Q220E(1)	JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CGCAGGCCCTGAGCTGTCTTG	0.483			T	SUZ12	endometrial stromal tumours																																	uc003szn.2				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(131)	1	Substitution - Missense(1)		lung(1)	soft_tissue(98)|endometrium(33)	131						c.(658-660)CAG>GAG		JAZF zinc finger 1							168.0	151.0	156.0					7																	27872493		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27872493G>C	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.658C>G	7.37:g.27872493G>C	ENSP00000283928:p.Gln220Glu					JAZF1_uc003szm.2_Missense_Mutation_p.Q156E	p.Q220E	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN			5	899	-			220			C2H2-type 3; degenerate.		A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.658C>G	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172465	0.78452	.	.	ENSG00000153814	ENST00000283928	T	0.78246	-1.16	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.83303	0.5225	L	0.38838	1.175	0.80722	D	1	P	0.43578	0.811	P	0.57960	0.83	T	0.81777	-0.0777	10	0.54805	T	0.06	-20.2393	20.8794	0.99867	0.0:0.0:1.0:0.0	.	220	Q86VZ6	JAZF1_HUMAN	E	220	ENSP00000283928:Q220E	ENSP00000283928:Q220E	Q	-	1	0	JAZF1	27839018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.483	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		18	125	18	125	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91718793	91718793	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr7:91718793G>T	ENST00000359028.2	+	38	9545	c.9320G>T	c.(9319-9321)gGt>gTt	p.G3107V	AKAP9_ENST00000356239.3_Missense_Mutation_p.G3103V|AKAP9_ENST00000358100.2_Missense_Mutation_p.G3053V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3107					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.G3107V(1)|p.G3103V(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAAATGAATGGTAGGAAAATT	0.388			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(9307-9309)GGT>GTT		A-kinase anchor protein 9 isoform 2							96.0	92.0	93.0					7																	91718793		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91718793G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9320G>T	7.37:g.91718793G>T	ENSP00000351922:p.Gly3107Val					AKAP9_uc003ulf.2_Missense_Mutation_p.G3095V|AKAP9_uc003uli.2_Missense_Mutation_p.G2726V|AKAP9_uc003ulj.2_Missense_Mutation_p.G873V|AKAP9_uc003ulk.2_Missense_Mutation_p.G378V|AKAP9_uc003ull.2_5'Flank	p.G3103V	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		38	9533	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3107					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.9308G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.278|4.278	0.050743|0.050743	0.08243|0.08243	.|.	.|.	ENSG00000127914|ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534|ENST00000435423	T;T;T;T|.	0.03358|.	4.05;4.05;4.06;3.96|.	4.81|4.81	-1.52|-1.52	0.08637|0.08637	.|.	0.597734|.	0.13974|.	N|.	0.349992|.	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.57536|0.57536	1.79|1.79	0.21147|0.21147	N|N	0.999775|0.999775	B;B;B;B;B|.	0.27416|.	0.178;0.061;0.036;0.061;0.061|.	B;B;B;B;B|.	0.26770|.	0.073;0.03;0.013;0.03;0.03|.	T|T	0.36504|0.36504	-0.9745|-0.9745	10|5	0.23302|.	T|.	0.38|.	.|.	1.7848|1.7848	0.03039|0.03039	0.3515:0.1261:0.3935:0.1288|0.3515:0.1261:0.3935:0.1288	.|.	3107;3107;3107;3103;3095|.	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3|.	.;.;AKAP9_HUMAN;.;.|.	V|L	3103;3107;3053;3107;949|248	ENSP00000348573:G3103V;ENSP00000351922:G3107V;ENSP00000350813:G3053V;ENSP00000378042:G949V|.	ENSP00000348573:G3103V|.	G|V	+|+	2|1	0|0	AKAP9|AKAP9	91556729|91556729	0.765000|0.765000	0.28485|0.28485	0.008000|0.008000	0.14137|0.14137	0.555000|0.555000	0.35460|0.35460	0.250000|0.250000	0.18235|0.18235	-0.248000|-0.248000	0.09583|0.09583	-0.282000|-0.282000	0.10007|0.10007	GGT|GTA		PASS	0.388	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		22	644	22	644	---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92731423	92731423	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr7:92731423C>G	ENST00000379958.2	-	3	4257	c.3988G>C	c.(3988-3990)Gag>Cag	p.E1330Q		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1330						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.E1330Q(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGCATCTCTCTACTTGAAGT	0.363																																						uc003umf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3988-3990)GAG>CAG		sterile alpha motif domain containing 9							102.0	109.0	107.0					7																	92731423		2201	4299	6500	SO:0001583	missense	54809					cytoplasm		g.chr7:92731423C>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3988G>C	7.37:g.92731423C>G	ENSP00000369292:p.Glu1330Gln					SAMD9_uc003umg.2_Missense_Mutation_p.E1330Q	p.E1330Q	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4244	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1330					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3988G>C	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	4.782	0.145440	0.09134	.	.	ENSG00000205413	ENST00000379958	T	0.24723	1.84	3.76	2.86	0.33363	.	0.160430	0.39834	N	0.001253	T	0.23210	0.0561	L	0.55990	1.75	0.09310	N	1	B	0.32031	0.352	B	0.24269	0.052	T	0.22836	-1.0205	10	0.72032	D	0.01	-4.3765	12.9108	0.58179	0.0:0.8346:0.1654:0.0	.	1330	Q5K651	SAMD9_HUMAN	Q	1330	ENSP00000369292:E1330Q	ENSP00000369292:E1330Q	E	-	1	0	SAMD9	92569359	0.048000	0.20356	0.112000	0.21494	0.006000	0.05464	1.696000	0.37773	1.116000	0.41820	0.536000	0.68110	GAG		PASS	0.363	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		43	860	43	860	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104747986	104747986	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr7:104747986G>C	ENST00000311117.3	+	22	3627	c.3082G>C	c.(3082-3084)Gat>Cat	p.D1028H	KMT2E_ENST00000257745.4_Missense_Mutation_p.D1028H|KMT2E_ENST00000334877.4_Missense_Mutation_p.D1028H|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334914.7_Missense_Mutation_p.D83H	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1028					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D1028H(1)									GCTAGGACTCGATGCAGTTGA	0.522																																						uc003vcm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3082-3084)GAT>CAT		myeloid/lymphoid or mixed-lineage leukemia 5							95.0	95.0	95.0					7																	104747986		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104747986G>C	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3082G>C	7.37:g.104747986G>C	ENSP00000312379:p.Asp1028His					MLL5_uc010ljc.2_Missense_Mutation_p.D1028H|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_5'UTR|MLL5_uc010ljh.1_5'Flank	p.D1028H	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			22	3616	+			1028					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.3082G>C	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347407	0.82022	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.92911	-3.13;-2.73;-3.13;0.62	6.03	6.03	0.97812	.	0.177243	0.40222	N	0.001155	D	0.92097	0.7495	N	0.24115	0.695	0.48511	D	0.999669	D	0.58620	0.983	P	0.55391	0.775	D	0.92778	0.6238	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	1028	Q8IZD2	MLL5_HUMAN	H	1028;1028;1028;948;1028;83	ENSP00000312379:D1028H;ENSP00000335599:D1028H;ENSP00000257745:D1028H;ENSP00000333986:D83H	ENSP00000257745:D1028H	D	+	1	0	MLL5	104535222	1.000000	0.71417	0.991000	0.47740	0.941000	0.58515	4.847000	0.62867	2.854000	0.98071	0.655000	0.94253	GAT		PASS	0.522	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			18	93	18	93	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122755608	122755608	+	Silent	SNP	C	C	A	rs150844958		TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr7:122755608C>A	ENST00000194130.2	-	15	1791	c.1752G>T	c.(1750-1752)tcG>tcT	p.S584S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	584					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.S584S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAGGAGCCCACGAAGGGTAAG	0.403																																						uc003vkm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1750-1752)TCG>TCT		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						174.0	137.0	149.0					7																	122755608		2203	4300	6503	SO:0001819	synonymous_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122755608C>A		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1752G>T	7.37:g.122755608C>A						SLC13A1_uc010lks.2_Silent_p.S460S	p.S584S	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			15	1777	-			584					Q9H5Z0	Silent	SNP	ENST00000194130.2	37	c.1752G>T	CCDS5786.1																																																																																				PASS	0.403	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		19	96	19	96	---	---	---	---
GPR37	2861	broad.mit.edu	37	7	124387341	124387341	+	Silent	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr7:124387341G>A	ENST00000303921.2	-	2	1730	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	360					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.F360F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCAGCACGGAAGCGGTCTA	0.488																																						uc003vli.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1078-1080)TTC>TTT		G protein-coupled receptor 37 precursor							71.0	71.0	71.0					7																	124387341		2203	4300	6503	SO:0001819	synonymous_variant	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124387341G>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1080C>T	7.37:g.124387341G>A							p.F360F	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	1731	-			360			Cytoplasmic (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	c.1080C>T	CCDS5792.1																																																																																				PASS	0.488	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		12	68	12	68	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126882877	126882877	+	Missense_Mutation	SNP	C	C	G	rs200579683		TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr7:126882877C>G	ENST00000339582.2	-	2	1190	c.382G>C	c.(382-384)Gct>Cct	p.A128P	GRM8_ENST00000358373.3_Missense_Mutation_p.A128P|GRM8_ENST00000444921.2_Missense_Mutation_p.A128P|GRM8_ENST00000405249.1_Missense_Mutation_p.A128P			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	128					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A128P(2)|p.A128S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ACATCCGAAGCATCTTTCTCT	0.502										HNSCC(24;0.065)																												uc003vlr.2																			3	Substitution - Missense(3)		lung(2)|upper_aerodigestive_tract(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(382-384)GCT>CCT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						158.0	129.0	139.0					7																	126882877		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882877C>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.382G>C	7.37:g.126882877C>G	ENSP00000344173:p.Ala128Pro	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A128P|GRM8_uc010lkz.1_RNA	p.A128P	NM_000845	NP_000836	O00222	GRM8_HUMAN			1	693	-		Prostate(267;0.186)	128			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.382G>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488118	0.44249	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.91894	-2.39;-2.39;-2.47;-2.53;-2.93	5.6	5.6	0.85130	Extracellular ligand-binding receptor (1);	0.134734	0.49305	D	0.000149	D	0.89206	0.6649	N	0.19112	0.55	0.38801	D	0.955194	B;B	0.30634	0.226;0.288	B;B	0.40101	0.101;0.319	D	0.87380	0.2356	10	0.35671	T	0.21	.	18.6042	0.91261	0.0:1.0:0.0:0.0	.	128;128	O00222-2;O00222	.;GRM8_HUMAN	P	128	ENSP00000344173:A128P;ENSP00000409790:A128P;ENSP00000351142:A128P;ENSP00000385731:A128P;ENSP00000415522:A128P	ENSP00000344173:A128P	A	-	1	0	GRM8	126670113	0.999000	0.42202	0.964000	0.40570	0.984000	0.73092	3.995000	0.57001	2.646000	0.89796	0.650000	0.86243	GCT		PASS	0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			19	81	19	81	---	---	---	---
SLC4A2	6522	broad.mit.edu	37	7	150767109	150767109	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr7:150767109C>G	ENST00000485713.1	+	9	2263	c.1223C>G	c.(1222-1224)tCt>tGt	p.S408C	SLC4A2_ENST00000461735.1_Missense_Mutation_p.S394C|SLC4A2_ENST00000413384.2_Missense_Mutation_p.S408C|SLC4A2_ENST00000310317.5_Missense_Mutation_p.S326C|SLC4A2_ENST00000392826.2_Missense_Mutation_p.S399C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	408					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.S408C(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGGTCATCTCTGACCAGATC	0.622																																						uc003wit.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1222-1224)TCT>TGT		solute carrier family 4, anion exchanger, member							79.0	76.0	77.0					7																	150767109		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767109C>G		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1223C>G	7.37:g.150767109C>G	ENSP00000419412:p.Ser408Cys					SLC4A2_uc011kve.1_Missense_Mutation_p.S399C|SLC4A2_uc003wiu.3_Missense_Mutation_p.S394C|SLC4A2_uc003wiv.3_5'Flank	p.S408C	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	1479	+			408			Cytoplasmic (Potential).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.1223C>G	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.992267	0.93167	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.02	5.02	0.67125	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	M	0.89904	3.07	0.58432	D	0.999998	D;D;D	0.71674	0.996;0.998;0.998	D;P;D	0.68192	0.917;0.893;0.956	D	0.87830	0.2644	10	0.87932	D	0	.	17.123	0.86706	0.0:1.0:0.0:0.0	.	399;394;408	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	C	408;408;326;399;394	ENSP00000419412:S408C;ENSP00000405600:S408C;ENSP00000311402:S326C;ENSP00000376571:S399C;ENSP00000419164:S394C	ENSP00000311402:S326C	S	+	2	0	SLC4A2	150398042	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.651000	0.83577	2.632000	0.89209	0.550000	0.68814	TCT		PASS	0.622	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		22	102	22	102	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2092716	2092716	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr8:2092716G>C	ENST00000262113.4	+	37	4350	c.4209G>C	c.(4207-4209)atG>atC	p.M1403I	MYOM2_ENST00000523438.1_Missense_Mutation_p.M828I|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1403	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.M1403I(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACGTCAGCATGACCATCAAAG	0.537																																						uc003wpx.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4207-4209)ATG>ATC		myomesin 2							128.0	103.0	112.0					8																	2092716		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2092716G>C		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4209G>C	8.37:g.2092716G>C	ENSP00000262113:p.Met1403Ile					MYOM2_uc011kwi.1_Missense_Mutation_p.M828I	p.M1403I	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	37	4347	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1403			Ig-like C2-type 5.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.4209G>C	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	3.855	-0.031087	0.07543	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.39229	1.09;1.09	5.35	2.37	0.29283	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.512050	0.20488	N	0.091352	T	0.14442	0.0349	N	0.01535	-0.81	0.27283	N	0.958043	B	0.15473	0.013	B	0.17979	0.02	T	0.26573	-1.0099	10	0.14656	T	0.56	.	7.9071	0.29767	0.2098:0.13:0.6602:0.0	.	1403	P54296	MYOM2_HUMAN	I	1403;828	ENSP00000262113:M1403I;ENSP00000428396:M828I	ENSP00000262113:M1403I	M	+	3	0	MYOM2	2080123	0.984000	0.35163	0.991000	0.47740	0.995000	0.86356	0.126000	0.15769	0.658000	0.30925	0.655000	0.94253	ATG		PASS	0.537	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		25	112	25	112	---	---	---	---
BLK	640	broad.mit.edu	37	8	11412926	11412926	+	Silent	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr8:11412926G>A	ENST00000259089.4	+	8	1297	c.705G>A	c.(703-705)gaG>gaA	p.E235E	RP11-148O21.4_ENST00000528629.1_RNA|RP11-148O21.6_ENST00000602626.1_lincRNA|RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Silent_p.E164E	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	235					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.E235E(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ATGAATGGGAGATCCCCCGGC	0.612																																						uc003wty.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|stomach(1)|ovary(1)	3						c.(703-705)GAG>GAA		B lymphoid tyrosine kinase							85.0	87.0	87.0					8																	11412926		2203	4300	6503	SO:0001819	synonymous_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11412926G>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.705G>A	8.37:g.11412926G>A						BLK_uc003wtz.2_Silent_p.E164E	p.E235E	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	8	1286	+			235					Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	c.705G>A	CCDS5982.1																																																																																				PASS	0.612	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			27	141	27	141	---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22172591	22172591	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr8:22172591C>T	ENST00000454009.2	+	18	2650	c.2141C>T	c.(2140-2142)gCc>gTc	p.A714V	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A714V|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A714V	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	714	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.A714V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CGGAGTGTGGCCCAGAAGATT	0.483																																						uc003xbn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2140-2142)GCC>GTC		piwi-like 2							142.0	137.0	139.0					8																	22172591		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22172591C>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2141C>T	8.37:g.22172591C>T	ENSP00000406956:p.Ala714Val					PIWIL2_uc011kzf.1_Missense_Mutation_p.A714V|PIWIL2_uc010ltv.2_Missense_Mutation_p.A714V	p.A714V	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	18	2289	+			714			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2141C>T	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225663	0.79576	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.27890	1.64;1.64;1.64	5.75	5.75	0.90469	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	L	0.33792	1.035	0.80722	D	1	P;P	0.44816	0.561;0.844	P;P	0.47786	0.531;0.557	T	0.01053	-1.1467	10	0.15066	T	0.55	-0.0641	19.0824	0.93187	0.0:1.0:0.0:0.0	.	714;714	E7ECA4;Q8TC59	.;PIWL2_HUMAN	V	714	ENSP00000349208:A714V;ENSP00000428267:A714V;ENSP00000406956:A714V	ENSP00000349208:A714V	A	+	2	0	PIWIL2	22228536	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.162000	0.64942	2.866000	0.98385	0.650000	0.86243	GCC		PASS	0.483	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			31	110	31	110	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52366145	52366145	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr8:52366145G>C	ENST00000356297.4	-	10	1283	c.1183C>G	c.(1183-1185)Cga>Gga	p.R395G	PXDNL_ENST00000543296.1_Missense_Mutation_p.R395G	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	395	Ig-like C2-type 2.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R395G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGGTAAATCGACCATGATCC	0.483																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1183-1185)CGA>GGA		peroxidasin homolog-like precursor							140.0	140.0	140.0					8																	52366145		2098	4213	6311	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52366145G>C		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1183C>G	8.37:g.52366145G>C	ENSP00000348645:p.Arg395Gly						p.R395G	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			10	1284	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	395			Ig-like C2-type 2.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1183C>G	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.169	-1.073696	0.01918	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.67698	-0.28;-0.28	4.08	-1.89	0.07689	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47728	0.1461	L	0.37897	1.145	0.09310	N	1	B	0.25772	0.134	B	0.17722	0.019	T	0.18587	-1.0332	9	0.28530	T	0.3	.	4.6062	0.12378	0.4276:0.2018:0.3706:0.0	.	395	A1KZ92	PXDNL_HUMAN	G	395	ENSP00000348645:R395G;ENSP00000444865:R395G	ENSP00000348645:R395G	R	-	1	2	PXDNL	52528698	0.042000	0.20092	0.000000	0.03702	0.001000	0.01503	1.152000	0.31663	-1.041000	0.03266	-0.145000	0.13849	CGA		PASS	0.483	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		19	100	19	100	---	---	---	---
DPY19L4	286148	broad.mit.edu	37	8	95780703	95780703	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr8:95780703C>T	ENST00000414645.2	+	12	1355	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	419						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.S419F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTGACACAGTCTTCTTTATTA	0.323																																						uc003ygx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1255-1257)TCT>TTT		dpy-19-like 4							99.0	92.0	95.0					8																	95780703		2203	4300	6503	SO:0001583	missense	286148					integral to membrane		g.chr8:95780703C>T		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1256C>T	8.37:g.95780703C>T	ENSP00000389630:p.Ser419Phe						p.S419F	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN			12	1380	+	Breast(36;3.85e-06)		419					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.1256C>T	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432463	0.62844	.	.	ENSG00000156162	ENST00000414645	T	0.58506	0.33	5.15	5.15	0.70609	.	0.250711	0.41500	D	0.000880	T	0.57066	0.2028	L	0.51422	1.61	0.45477	D	0.998449	B	0.27765	0.188	B	0.29862	0.108	T	0.59857	-0.7375	10	0.87932	D	0	-10.9352	18.6875	0.91570	0.0:1.0:0.0:0.0	.	419	Q7Z388	D19L4_HUMAN	F	419	ENSP00000389630:S419F	ENSP00000389630:S419F	S	+	2	0	DPY19L4	95849879	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.407000	0.73280	2.413000	0.81919	0.650000	0.86243	TCT		PASS	0.323	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		11	72	11	72	---	---	---	---
GPAA1	8733	broad.mit.edu	37	8	145138051	145138051	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr8:145138051C>G	ENST00000355091.4	+	2	220	c.99C>G	c.(97-99)atC>atG	p.I33M	GPAA1_ENST00000361036.6_Intron	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	33					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)	p.I33M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCGGGCATCGCCTGGTTCT	0.672																																						uc003zax.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)ATC>ATG		glycosylphosphatidylinositol anchor attachment							25.0	30.0	28.0					8																	145138051		2053	4194	6247	SO:0001583	missense	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145138051C>G	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.99C>G	8.37:g.145138051C>G	ENSP00000347206:p.Ile33Met					GPAA1_uc003zav.1_Translation_Start_Site|GPAA1_uc003zaw.1_Intron	p.I33M	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	209	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		33			Helical; (Potential).		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	c.99C>G	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713580	0.48517	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000524418	.	.	.	4.9	1.78	0.24846	.	0.386486	0.27691	N	0.018250	T	0.41396	0.1157	L	0.40543	1.245	0.80722	D	1	P	0.34780	0.468	B	0.36989	0.238	T	0.39663	-0.9603	9	0.62326	D	0.03	-15.8804	7.7048	0.28644	0.0:0.5585:0.343:0.0985	.	33	O43292	GPAA1_HUMAN	M	33	.	ENSP00000347206:I33M	I	+	3	3	GPAA1	145210039	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.020000	0.30027	1.036000	0.39998	0.655000	0.94253	ATC		PASS	0.672	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		11	57	11	57	---	---	---	---
APBA1	320	broad.mit.edu	37	9	72131759	72131759	+	Missense_Mutation	SNP	C	C	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr9:72131759C>A	ENST00000265381.4	-	2	590	c.368G>T	c.(367-369)cGg>cTg	p.R123L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	123					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R123L(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGCCTCGGGCCGGTACTGCAC	0.731																																						uc004ahh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(367-369)CGG>CTG		amyloid beta A4 precursor protein-binding,							29.0	27.0	27.0					9																	72131759		2201	4298	6499	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131759C>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.368G>T	9.37:g.72131759C>A	ENSP00000265381:p.Arg123Leu						p.R123L	NM_001163	NP_001154	Q02410	APBA1_HUMAN			2	644	-			123					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.368G>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188030	0.78789	.	.	ENSG00000107282	ENST00000265381	T	0.09911	2.93	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	L	0.29908	0.895	0.80722	D	1	P	0.47034	0.889	P	0.45310	0.476	T	0.16247	-1.0409	10	0.20046	T	0.44	.	19.0028	0.92841	0.0:1.0:0.0:0.0	.	123	Q02410	APBA1_HUMAN	L	123	ENSP00000265381:R123L	ENSP00000265381:R123L	R	-	2	0	APBA1	71321579	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.439000	0.66556	2.578000	0.87016	0.561000	0.74099	CGG		PASS	0.731	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		4	37	4	37	---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96407915	96407915	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr9:96407915G>A	ENST00000359246.4	+	4	671	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	102					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.E102K(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)		CTGCAGTGCTGAAGACGTGGT	0.647																																						uc004aub.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(304-306)GAA>AAA		PHD finger protein 2							80.0	75.0	76.0					9																	96407915		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.chr9:96407915G>A	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.304G>A	9.37:g.96407915G>A	ENSP00000352185:p.Glu102Lys					PHF2_uc011lug.1_5'UTR	p.E102K	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	4	451	+		Myeloproliferative disorder(762;0.0255)	102					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.304G>A	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322759	0.81580	.	.	ENSG00000197724	ENST00000359246	T	0.69306	-0.39	4.61	4.61	0.57282	.	0.125717	0.53938	D	0.000055	T	0.58221	0.2107	L	0.39397	1.21	0.80722	D	1	P	0.39311	0.667	B	0.33690	0.168	T	0.66984	-0.5785	10	0.87932	D	0	-26.0438	17.6258	0.88093	0.0:0.0:1.0:0.0	.	102	O75151	PHF2_HUMAN	K	102	ENSP00000352185:E102K	ENSP00000352185:E102K	E	+	1	0	PHF2	95447736	1.000000	0.71417	0.685000	0.30070	0.826000	0.46750	9.474000	0.97718	2.387000	0.81309	0.460000	0.39030	GAA		PASS	0.647	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		18	132	18	132	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120470908	120470908	+	Missense_Mutation	SNP	T	T	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr9:120470908T>G	ENST00000355622.6	+	2	262	c.161T>G	c.(160-162)tTc>tGc	p.F54C	RNU6-1082P_ENST00000364574.1_RNA|TLR4_ENST00000394487.4_Missense_Mutation_p.F14C|TLR4_ENST00000472304.1_Intron	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	54					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.F54C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AACCTCCCCTTCTCAACCAAG	0.438																																						uc004bjz.2																			1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(160-162)TTC>TGC		toll-like receptor 4 precursor							157.0	158.0	157.0					9																	120470908		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120470908T>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.161T>G	9.37:g.120470908T>G	ENSP00000363089:p.Phe54Cys					TLR4_uc004bka.2_Missense_Mutation_p.F14C|TLR4_uc004bkb.2_Intron	p.F54C	NM_138554	NP_612564	O00206	TLR4_HUMAN			2	452	+			54			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.161T>G	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.368666	0.42003	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.38240	1.44;1.15	5.66	-1.02	0.10135	.	1.148760	0.06242	N	0.690642	T	0.19446	0.0467	N	0.08118	0	0.09310	N	1	P	0.43885	0.82	P	0.44623	0.455	T	0.05289	-1.0894	10	0.39692	T	0.17	.	1.3601	0.02190	0.4072:0.274:0.1034:0.2154	.	54	O00206	TLR4_HUMAN	C	14;54	ENSP00000377997:F14C;ENSP00000363089:F54C	ENSP00000363089:F54C	F	+	2	0	TLR4	119510729	0.000000	0.05858	0.156000	0.22583	0.979000	0.70002	-0.067000	0.11579	-0.391000	0.07763	-0.242000	0.12053	TTC		PASS	0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		32	128	32	128	---	---	---	---
MAPKAP1	79109	broad.mit.edu	37	9	128432143	128432143	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr9:128432143G>C	ENST00000373498.1	-	2	371	c.303C>G	c.(301-303)atC>atG	p.I101M	MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.I101M|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.I101M|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.I101M|MAPKAP1_ENST00000373503.3_De_novo_Start_InFrame|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.I101M			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	101	Interaction with MAP3K2.|Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)	p.I101M(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TTTTGCATTTGATCTGGTTTT	0.264																																						uc004bpv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)	4						c.(301-303)ATC>ATG		mitogen-activated protein kinase associated							106.0	103.0	104.0					9																	128432143		2202	4298	6500	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128432143G>C	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.303C>G	9.37:g.128432143G>C	ENSP00000362597:p.Ile101Met					MAPKAP1_uc004bpw.2_Translation_Start_Site|MAPKAP1_uc004bpx.2_Intron|MAPKAP1_uc004bpy.2_Missense_Mutation_p.I101M|MAPKAP1_uc004bpz.2_Missense_Mutation_p.I101M|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bqa.2_Missense_Mutation_p.I101M	p.I101M	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN			3	636	-			101			Interaction with MAP3K2.		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.303C>G	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338418	0.41398	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373498;ENST00000265960;ENST00000373505;ENST00000394060;ENST00000373496	.	.	.	6.16	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.68705	0.3030	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.71674	0.993;0.987;0.998;0.998	P;P;D;D	0.71414	0.906;0.906;0.965;0.973	T	0.67221	-0.5725	9	0.34782	T	0.22	0.3591	8.619	0.33849	0.0:0.1068:0.5338:0.3594	.	101;101;101;101	Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	M	101;101;101;101;56;101;73	.	ENSP00000265960:I101M	I	-	3	3	MAPKAP1	127471964	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.111000	0.57838	1.607000	0.50170	0.650000	0.86243	ATC		PASS	0.264	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			6	21	6	21	---	---	---	---
TPRN	286262	broad.mit.edu	37	9	140086755	140086755	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr9:140086755C>G	ENST00000409012.4	-	3	2115	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_Missense_Mutation_p.E616Q	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	677					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.E371Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGGGCCTGCTCCAGCGCCTGC	0.677																																						uc004clt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1846-1848)GAG>CAG		hypothetical protein LOC286262 isoform 2							26.0	28.0	27.0					9																	140086755		2202	4296	6498	SO:0001583	missense	286262				sensory perception of sound	stereocilium		g.chr9:140086755C>G	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.2029G>C	9.37:g.140086755C>G	ENSP00000387100:p.Glu677Gln					TPRN_uc004clu.2_Missense_Mutation_p.E616Q	p.E616Q	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN			3	1846	-			677					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	c.1846G>C	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	C	6.040	0.375747	0.11409	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	4.78	3.65	0.41850	.	0.530244	0.18571	N	0.137330	T	0.24812	0.0602	L	0.32530	0.975	0.09310	N	1	P	0.43826	0.818	B	0.37650	0.255	T	0.15122	-1.0448	9	0.54805	T	0.06	-8.7278	8.8357	0.35111	0.0:0.8752:0.0:0.1248	.	677	Q4KMQ1	TPRN_HUMAN	Q	475;677;616	.	ENSP00000313704:E616Q	E	-	1	0	TPRN	139206576	0.001000	0.12720	0.100000	0.21137	0.053000	0.15095	1.181000	0.32017	2.213000	0.71641	0.462000	0.41574	GAG		PASS	0.677	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		6	40	6	40	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34759074	34759074	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr10:34759074G>C	ENST00000374789.3	-	4	846	c.521C>G	c.(520-522)tCa>tGa	p.S174*	PARD3_ENST00000350537.4_Nonsense_Mutation_p.S174*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.S174*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.S174*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.S174*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.S174*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.S174*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.S174*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.S174*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.S174*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.S174*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	174					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S174*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AGCTGTTGTTGACCAGCGTGT	0.507																																						uc010qej.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(520-522)TCA>TGA		partitioning-defective protein 3 homolog							132.0	126.0	128.0					10																	34759074		2203	4300	6503	SO:0001587	stop_gained	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34759074G>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.521C>G	10.37:g.34759074G>C	ENSP00000363921:p.Ser174*					PARD3_uc010qek.1_Nonsense_Mutation_p.S174*|PARD3_uc010qel.1_Nonsense_Mutation_p.S174*|PARD3_uc010qem.1_Nonsense_Mutation_p.S174*|PARD3_uc010qen.1_Nonsense_Mutation_p.S174*|PARD3_uc010qeo.1_Nonsense_Mutation_p.S174*|PARD3_uc010qep.1_Nonsense_Mutation_p.S174*|PARD3_uc010qeq.1_Nonsense_Mutation_p.S174*|PARD3_uc001ixp.1_Nonsense_Mutation_p.S39*|PARD3_uc001ixq.1_Nonsense_Mutation_p.S174*|PARD3_uc001ixr.1_Nonsense_Mutation_p.S174*|PARD3_uc001ixt.1_Nonsense_Mutation_p.S39*|PARD3_uc001ixu.1_Nonsense_Mutation_p.S174*	p.S174*	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			4	521	-		Breast(68;0.0707)	174					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	ENST00000374789.3	37	c.521C>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	38	6.786069	0.97837	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1617	0.98138	0.0:0.0:1.0:0.0	.	.	.	.	X	174	.	ENSP00000341844:S174X	S	-	2	0	PARD3	34799080	1.000000	0.71417	0.972000	0.41901	0.305000	0.27757	8.839000	0.92120	2.854000	0.98071	0.655000	0.94253	TCA		PASS	0.507	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		30	128	30	128	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96039545	96039545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr10:96039545C>T	ENST00000371380.3	+	19	4907	c.4672C>T	c.(4672-4674)Cag>Tag	p.Q1558*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.Q1250*|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.Q1250*|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000260766.3_Nonsense_Mutation_p.Q1558*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1558					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.Q1558*(1)|p.Q1250*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACAGGCTCATCAGTTAGCATC	0.388											OREG0020383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kjk.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(4672-4674)CAG>TAG		phospholipase C, epsilon 1 isoform 1							101.0	100.0	100.0					10																	96039545		1881	4107	5988	SO:0001587	stop_gained	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96039545C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4672C>T	10.37:g.96039545C>T	ENSP00000360431:p.Gln1558*		OREG0020383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1317	PLCE1_uc010qnx.1_Nonsense_Mutation_p.Q1542*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.Q1250*|uc001kjo.1_RNA	p.Q1558*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			20	5306	+		Colorectal(252;0.0458)	1558					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	c.4672C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	48	14.056089	0.99777	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.2312	0.98350	0.0:1.0:0.0:0.0	.	.	.	.	X	1558;1558;1250;1250	.	ENSP00000260766:Q1558X	Q	+	1	0	PLCE1	96029535	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	7.011000	0.76359	2.882000	0.98803	0.655000	0.94253	CAG		PASS	0.388	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		16	76	16	76	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104176760	104176760	+	Silent	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr10:104176760G>A	ENST00000020673.5	-	2	562	c.36C>T	c.(34-36)ggC>ggT	p.G12G	FBXL15_ENST00000369956.2_5'Flank|PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Silent_p.G12G|FBXL15_ENST00000224862.3_5'Flank	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	12					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.G12G(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGGCACAGTCGCCTTCCGAGC	0.721																																						uc001kvg.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|urinary_tract(1)	3						c.(34-36)GGC>GGT		pleckstrin and Sec7 domain containing							8.0	10.0	9.0					10																	104176760		2181	4262	6443	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176760G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.36C>T	10.37:g.104176760G>A						PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.G12G|PSD_uc001kvi.1_Silent_p.G12G|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	p.G12G	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	563	-			12					B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.36C>T	CCDS31272.1																																																																																				PASS	0.721	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			4	21	4	21	---	---	---	---
OR51V1	283111	broad.mit.edu	37	11	5221326	5221326	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr11:5221326C>G	ENST00000321255.1	-	1	604	c.605G>C	c.(604-606)cGa>cCa	p.R202P		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	202					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R202P(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTATTGAATCGGATGTCTGA	0.408																																						uc010qyz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(604-606)CGA>CCA		olfactory receptor, family 51, subfamily V,							58.0	55.0	56.0					11																	5221326		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221326C>G	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.605G>C	11.37:g.5221326C>G	ENSP00000321729:p.Arg202Pro						p.R202P	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	605	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	202			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321255.1	37	c.605G>C	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	9.296	1.051981	0.19827	.	.	ENSG00000176742	ENST00000321255	T	0.37584	1.19	5.17	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.469091	0.18100	N	0.151727	T	0.53367	0.1792	M	0.80746	2.51	0.09310	N	1	D	0.63880	0.993	D	0.69142	0.962	T	0.43475	-0.9389	10	0.72032	D	0.01	.	3.6524	0.08209	0.136:0.5792:0.132:0.1528	.	202	Q9H2C8	O51V1_HUMAN	P	202	ENSP00000321729:R202P	ENSP00000321729:R202P	R	-	2	0	OR51V1	5177902	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	-0.732000	0.04904	0.337000	0.23665	0.655000	0.94253	CGA		PASS	0.408	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		12	106	12	106	---	---	---	---
OR2D2	120776	broad.mit.edu	37	11	6913340	6913340	+	Missense_Mutation	SNP	C	C	T	rs143950338		TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr11:6913340C>T	ENST00000299459.2	-	1	490	c.392G>A	c.(391-393)cGt>cAt	p.R131H		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	131					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R131H(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTTAGGGTAACGCAGAGGATT	0.498																																						uc010rau.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(391-393)CGT>CAT		olfactory receptor, family 2, subfamily D,			HIS/ARG	0,4402		0,0,2201	140.0	109.0	119.0		392	2.8	0.2	11	dbSNP_134	119	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR2D2	NM_003700.1	29	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	benign	131/309	6913340	2,12992	2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913340C>T	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.392G>A	11.37:g.6913340C>T	ENSP00000299459:p.Arg131His						p.R131H	NM_003700	NP_003691	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	392	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	131			Cytoplasmic (Potential).		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.392G>A	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	1.208	-0.630565	0.03584	0.0	2.33E-4	ENSG00000166368	ENST00000299459	T	0.00669	5.9	5.23	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	N	0.000110	T	0.00468	0.0015	N	0.13003	0.285	0.22562	N	0.998984	B	0.02656	0.0	B	0.01281	0.0	T	0.48502	-0.9030	10	0.02654	T	1	-11.6662	3.3029	0.06989	0.1362:0.0769:0.142:0.6449	.	131	Q9H210	OR2D2_HUMAN	H	131	ENSP00000299459:R131H	ENSP00000299459:R131H	R	-	2	0	OR2D2	6869916	0.000000	0.05858	0.184000	0.23157	0.850000	0.48378	-0.381000	0.07417	0.146000	0.19002	-0.288000	0.09946	CGT		PASS	0.498	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		16	141	16	141	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820934	+	Missense_Mutation	SNP	T	T	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr11:10820934T>G	ENST00000526148.1	-	20	2872	c.2362A>C	c.(2362-2364)Agc>Cgc	p.S788R	EIF4G2_ENST00000525681.1_Missense_Mutation_p.S788R|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.S750R|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S788R	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTT	0.408																																						uc001mjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2362-2364)AGC>CGC		eukaryotic translation initiation factor 4							72.0	71.0	72.0					11																	10820934		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820934T>G	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2362A>C	11.37:g.10820934T>G	ENSP00000433664:p.Ser788Arg					EIF4G2_uc001mjb.2_Missense_Mutation_p.S582R|EIF4G2_uc009ygf.2_Missense_Mutation_p.S582R|EIF4G2_uc001mjd.2_Missense_Mutation_p.S750R	p.S788R	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2779	-			788			W2.			Missense_Mutation	SNP	ENST00000526148.1	37	c.2362A>C	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553235	0.45487	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T	0.17370	2.28;2.28;2.28;2.29	6.07	6.07	0.98685	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.306169	0.43579	D	0.000548	T	0.10723	0.0262	N	0.08118	0	0.33418	D	0.579505	B;B	0.20368	0.018;0.044	B;B	0.11329	0.002;0.006	T	0.22661	-1.0210	9	0.29301	T	0.29	-5.6935	16.6407	0.85098	0.0:0.0:0.0:1.0	.	788;861	P78344;B4DZF2	IF4G2_HUMAN;.	R	788;788;788;750;861;136;170	ENSP00000433664:S788R;ENSP00000433371:S788R;ENSP00000340281:S788R;ENSP00000379778:S750R	ENSP00000340281:S788R	S	-	1	0	EIF4G2	10777510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.501000	0.66950	2.326000	0.78906	0.533000	0.62120	AGC		PASS	0.408	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		14	98	14	98	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10820951	10820951	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr11:10820951C>G	ENST00000526148.1	-	20	2855	c.2345G>C	c.(2344-2346)aGt>aCt	p.S782T	EIF4G2_ENST00000525681.1_Missense_Mutation_p.S782T|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.S744T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S782T	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.S782T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTACTTCACTAGAAATGTA	0.423																																						uc001mjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2344-2346)AGT>ACT		eukaryotic translation initiation factor 4							60.0	59.0	59.0					11																	10820951		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820951C>G	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2345G>C	11.37:g.10820951C>G	ENSP00000433664:p.Ser782Thr					EIF4G2_uc001mjb.2_Missense_Mutation_p.S576T|EIF4G2_uc009ygf.2_Missense_Mutation_p.S576T|EIF4G2_uc001mjd.2_Missense_Mutation_p.S744T	p.S782T	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2762	-			782			W2.			Missense_Mutation	SNP	ENST00000526148.1	37	c.2345G>C	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569456	0.28003	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T	0.18338	2.22;2.22;2.22;2.23	6.07	6.07	0.98685	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.240214	0.52532	D	0.000075	T	0.11879	0.0289	N	0.19112	0.55	0.32328	N	0.5614680000000001	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.20240	-1.0281	9	0.22109	T	0.4	-6.0338	13.8057	0.63230	0.0:0.9305:0.0:0.0695	.	782;855	P78344;B4DZF2	IF4G2_HUMAN;.	T	782;782;782;744;855;130;164	ENSP00000433664:S782T;ENSP00000433371:S782T;ENSP00000340281:S782T;ENSP00000379778:S744T	ENSP00000340281:S782T	S	-	2	0	EIF4G2	10777527	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.133000	0.50531	2.885000	0.99019	0.655000	0.94253	AGT		PASS	0.423	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		10	87	10	87	---	---	---	---
SPDYC	387778	broad.mit.edu	37	11	64940229	64940229	+	Silent	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr11:64940229C>T	ENST00000377185.2	+	6	673	c.591C>T	c.(589-591)gtC>gtT	p.V197V	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.V197V(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TTCAGAGGGTCTGTCCACAGG	0.647																																						uc010rnz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(589-591)GTC>GTT		speedy C							45.0	48.0	47.0					11																	64940229		2201	4297	6498	SO:0001819	synonymous_variant	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64940229C>T	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.591C>T	11.37:g.64940229C>T							p.V197V	NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN			6	591	+			197						Silent	SNP	ENST00000377185.2	37	c.591C>T	CCDS31606.1																																																																																				PASS	0.647	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		16	88	16	88	---	---	---	---
SPDYC	387778	broad.mit.edu	37	11	64940371	64940371	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr11:64940371C>T	ENST00000377185.2	+	6	815	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.H245Y(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CTCTGAATGTCATCGCCCTCC	0.572																																						uc010rnz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CAT>TAT		speedy C							102.0	106.0	104.0					11																	64940371		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64940371C>T	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.733C>T	11.37:g.64940371C>T	ENSP00000366390:p.His245Tyr						p.H245Y	NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN			6	733	+			245						Missense_Mutation	SNP	ENST00000377185.2	37	c.733C>T	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946231	0.18356	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.91	-0.755	0.11061	.	0.711889	0.11131	N	0.596325	T	0.24661	0.0598	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30446	-0.9978	9	0.02654	T	1	.	12.3087	0.54915	0.0:0.8126:0.0:0.1874	.	245	Q5MJ68	SPDYC_HUMAN	Y	245	.	ENSP00000366390:H245Y	H	+	1	0	SPDYC	64696947	0.002000	0.14202	0.000000	0.03702	0.008000	0.06430	0.658000	0.24979	-0.153000	0.11137	0.655000	0.94253	CAT		PASS	0.572	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		16	138	16	138	---	---	---	---
SF3B2	10992	broad.mit.edu	37	11	65835421	65835421	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr11:65835421G>C	ENST00000322535.6	+	20	2384	c.2335G>C	c.(2335-2337)Gag>Cag	p.E779Q	PACS1_ENST00000320580.4_5'Flank|RP11-1167A19.2_ENST00000529036.1_Intron|SF3B2_ENST00000528302.1_Missense_Mutation_p.E762Q	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	779					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.E779Q(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCGCAGAAGTGAGACACCTCA	0.527											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ogy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2335-2337)GAG>CAG		splicing factor 3B subunit 2							132.0	130.0	131.0					11																	65835421		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65835421G>C	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2335G>C	11.37:g.65835421G>C	ENSP00000318861:p.Glu779Gln		OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1087	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank	p.E779Q	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			20	2375	+			779					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.2335G>C	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639074	0.87760	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	L	0.55990	1.75	0.80722	D	1	D	0.65815	0.995	D	0.64144	0.922	T	0.71394	-0.4606	9	0.39692	T	0.17	-33.9521	17.4726	0.87650	0.0:0.0:1.0:0.0	.	779	Q13435	SF3B2_HUMAN	Q	762;779;683	.	ENSP00000318861:E779Q	E	+	1	0	SF3B2	65591997	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.336000	0.96533	2.719000	0.93026	0.555000	0.69702	GAG		PASS	0.527	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			34	141	34	141	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92534482	92534482	+	Missense_Mutation	SNP	A	A	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr11:92534482A>G	ENST00000298047.6	+	9	8320	c.8303A>G	c.(8302-8304)gAc>gGc	p.D2768G	FAT3_ENST00000409404.2_Missense_Mutation_p.D2768G|FAT3_ENST00000525166.1_Missense_Mutation_p.D2618G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2768	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2768G(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTAAGCTTGACAAACGCCTT	0.448										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(8302-8304)GAC>GGC		FAT tumor suppressor homolog 3							76.0	72.0	73.0					11																	92534482		1919	4133	6052	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534482A>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8303A>G	11.37:g.92534482A>G	ENSP00000298047:p.Asp2768Gly	TCGA Ovarian(4;0.039)					p.D2768G	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8320	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2768			Extracellular (Potential).|Cadherin 25.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8303A>G		.	.	.	.	.	.	.	.	.	.	A	13.27	2.188062	0.38609	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60548	0.18;0.18;0.18	5.74	5.74	0.90152	.	.	.	.	.	T	0.45558	0.1348	N	0.20881	0.62	0.80722	D	1	P	0.44044	0.825	B	0.40825	0.341	T	0.37798	-0.9690	9	0.23891	T	0.37	.	16.0299	0.80570	1.0:0.0:0.0:0.0	.	2768	Q8TDW7-3	.	G	2768;2768;2618	ENSP00000298047:D2768G;ENSP00000387040:D2768G;ENSP00000432586:D2618G	ENSP00000298047:D2768G	D	+	2	0	FAT3	92174130	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.054000	0.71096	2.198000	0.70561	0.482000	0.46254	GAC		PASS	0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	36	8	36	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116730126	116730126	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr11:116730126C>T	ENST00000292055.4	-	19	2337	c.2302G>A	c.(2302-2304)Gca>Aca	p.A768T	SIK3_ENST00000434315.2_Missense_Mutation_p.A667T|SIK3_ENST00000375300.1_Missense_Mutation_p.A826T|SIK3_ENST00000542607.1_Missense_Mutation_p.A768T|SIK3_ENST00000446921.2_Missense_Mutation_p.A826T|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.A163T	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	768	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.A874T(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTGGAGCCTGCAGCTGTGCCT	0.597											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001ppy.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(2302-2304)GCA>ACA		serine/threonine-protein kinase QSK							85.0	74.0	77.0					11																	116730126		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116730126C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2302G>A	11.37:g.116730126C>T	ENSP00000292055:p.Ala768Thr		OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1475	SIK3_uc001ppz.2_Missense_Mutation_p.A667T|SIK3_uc001pqa.2_Missense_Mutation_p.A768T|SIK3_uc001ppw.2_Missense_Mutation_p.A185T|SIK3_uc001ppx.2_Missense_Mutation_p.A206T|SIK3_uc001pqb.2_Missense_Mutation_p.A71T	p.A768T	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			19	2338	-			768			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2302G>A	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.03|10.03	1.239908|1.239908	0.22711|0.22711	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921	T;T;T;T;T|.	0.71579|.	-0.54;-0.58;1.3;-0.56;-0.19|.	5.43|5.43	3.57|3.57	0.40892|0.40892	.|.	0.177658|.	0.26522|.	U|.	0.023909|.	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.24132|.	0.098;0.059;0.013;0.047;0.0|.	B;B;B;B;B|.	0.26770|.	0.073;0.02;0.008;0.014;0.002|.	T|T	0.20571|0.20571	-1.0271|-1.0271	10|5	0.54805|.	T|.	0.06|.	.|.	5.264|5.264	0.15589|0.15589	0.0:0.608:0.1483:0.2437|0.0:0.608:0.1483:0.2437	.|.	768;768;667;768;163|.	Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2|.	.;.;.;SIK3_HUMAN;.|.	T|Y	826;768;163;768;667|867;790	ENSP00000364449:A826T;ENSP00000292055:A768T;ENSP00000364437:A163T;ENSP00000438108:A768T;ENSP00000415873:A667T|.	ENSP00000292055:A768T|.	A|C	-|-	1|2	0|0	SIK3|SIK3	116235336|116235336	0.988000|0.988000	0.35896|0.35896	0.155000|0.155000	0.22561|0.22561	0.278000|0.278000	0.26855|0.26855	0.722000|0.722000	0.25925|0.25925	0.659000|0.659000	0.30945|0.30945	0.561000|0.561000	0.74099|0.74099	GCA|TGC		PASS	0.597	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		15	86	15	86	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	40010967	40010967	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr12:40010967C>G	ENST00000308666.3	-	2	1078	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	315	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.E315Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTTCATTTCTACCTATAGA	0.299																																						uc001rmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(943-945)GAA>CAA		ATP-binding cassette, sub-family D, member 2							95.0	93.0	94.0					12																	40010967		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40010967C>G	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.943G>C	12.37:g.40010967C>G	ENSP00000310688:p.Glu315Gln						p.E315Q	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			2	1369	-			315			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.943G>C	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580103	0.86645	.	.	ENSG00000173208	ENST00000308666	D	0.99902	-7.66	5.0	5.0	0.66597	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99926	0.9966	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95975	0.8973	9	.	.	.	-17.544	18.6647	0.91485	0.0:1.0:0.0:0.0	.	315	Q9UBJ2	ABCD2_HUMAN	Q	315	ENSP00000310688:E315Q	.	E	-	1	0	ABCD2	38297234	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.382000	0.79729	2.470000	0.83445	0.655000	0.94253	GAA		PASS	0.299	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		7	73	7	73	---	---	---	---
RASSF9	9182	broad.mit.edu	37	12	86199520	86199520	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr12:86199520G>A	ENST00000361228.3	-	2	636	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	90	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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.L90F(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGGAGGAAGAACCCTTTCG	0.463																																						uc001taf.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(268-270)CTT>TTT		Ras association (RalGDS/AF-6) domain family							96.0	96.0	96.0					12																	86199520		1881	4116	5997	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199520G>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.268C>T	12.37:g.86199520G>A	ENSP00000354884:p.Leu90Phe						p.L90F	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	607	-			90			Ras-associating.		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.268C>T	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730657	0.48939	.	.	ENSG00000198774	ENST00000361228	T	0.61392	0.11	5.16	5.16	0.70880	Ras-association (2);	0.000000	0.64402	D	0.000004	T	0.79695	0.4490	M	0.91459	3.21	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.83488	0.0068	10	0.72032	D	0.01	-7.9866	12.3846	0.55325	0.0776:0.0:0.9224:0.0	.	90	O75901	RASF9_HUMAN	F	90	ENSP00000354884:L90F	ENSP00000354884:L90F	L	-	1	0	RASSF9	84723651	1.000000	0.71417	0.959000	0.39883	0.510000	0.34073	4.503000	0.60407	2.577000	0.86979	0.609000	0.83330	CTT		PASS	0.463	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			33	110	33	110	---	---	---	---
PRDM4	11108	broad.mit.edu	37	12	108145615	108145615	+	Silent	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr12:108145615G>A	ENST00000228437.5	-	5	1162	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	235					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)	p.L235L(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCCACAGACAGAGGTTCATGA	0.532																																						uc001tmp.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(703-705)CTG>TTG		PR domain containing 4							117.0	98.0	104.0					12																	108145615		2203	4300	6503	SO:0001819	synonymous_variant	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108145615G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.703C>T	12.37:g.108145615G>A						PRDM4_uc001tmq.2_RNA	p.L235L	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN			5	1140	-			235					Q9UFA6	Silent	SNP	ENST00000228437.5	37	c.703C>T	CCDS9115.1																																																																																				PASS	0.532	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		14	85	14	85	---	---	---	---
KCTD10	83892	broad.mit.edu	37	12	109895804	109895804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr12:109895804G>T	ENST00000228495.6	-	4	748	c.467C>A	c.(466-468)tCa>tAa	p.S156*	KCTD10_ENST00000540411.1_Nonsense_Mutation_p.S153*|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_5'UTR|KCTD10_ENST00000424763.2_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	156					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)		p.S156*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TACCTTATTTGAAGTCGCTAT	0.373																																						uc001toi.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(466-468)TCA>TAA		potassium channel tetramerisation domain							139.0	129.0	133.0					12																	109895804		2203	4300	6503	SO:0001587	stop_gained	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109895804G>T	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.467C>A	12.37:g.109895804G>T	ENSP00000228495:p.Ser156*					KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Nonsense_Mutation_p.S153*|KCTD10_uc001toj.1_Nonsense_Mutation_p.S165*|KCTD10_uc001tok.1_5'UTR	p.S156*	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN			4	555	-			156					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Nonsense_Mutation	SNP	ENST00000228495.6	37	c.467C>A	CCDS9128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.168038|8.168038	0.98686|0.98686	.|.	.|.	ENSG00000110906|ENSG00000110906	ENST00000538161|ENST00000228495;ENST00000540411;ENST00000542858	.|.	.|.	.|.	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|0.068704	.|0.64402	.|D	.|0.000011	T|.	0.43523|.	0.1251|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31081|.	-0.9956|.	4|.	.|0.02654	.|T	.|1	-6.41|-6.41	16.6431|16.6431	0.85134|0.85134	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	122|156;153;146	.|.	.|ENSP00000228495:S156X	Q|S	-|-	1|2	0|0	KCTD10|KCTD10	108380187|108380187	1.000000|1.000000	0.71417|0.71417	0.896000|0.896000	0.35187|0.35187	0.966000|0.966000	0.64601|0.64601	7.433000|7.433000	0.80362|0.80362	2.477000|2.477000	0.83638|0.83638	0.561000|0.561000	0.74099|0.74099	CAA|TCA		PASS	0.373	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		17	76	17	76	---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33704299	33704299	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr13:33704299G>A	ENST00000336934.5	-	5	631	c.515C>T	c.(514-516)cCg>cTg	p.P172L	STARD13_ENST00000399365.3_Missense_Mutation_p.P54L|STARD13_ENST00000255486.4_Missense_Mutation_p.P164L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	172					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.P172L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CGTGCCTCCCGGTGACCCATT	0.577																																						uc001uuw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(514-516)CCG>CTG		StAR-related lipid transfer (START) domain							66.0	51.0	56.0					13																	33704299		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33704299G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.515C>T	13.37:g.33704299G>A	ENSP00000338785:p.Pro172Leu					STARD13_uc001uuu.2_Missense_Mutation_p.P164L|STARD13_uc001uuv.2_Missense_Mutation_p.P54L|STARD13_uc001uux.2_Missense_Mutation_p.P137L|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.P157L	p.P172L	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	641	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	172					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.515C>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	6.194	0.404003	0.11754	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.07216	3.21;3.23;3.24	5.44	1.56	0.23342	.	0.923336	0.09445	N	0.801262	T	0.06554	0.0168	L	0.31476	0.935	0.09310	N	0.999994	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.0;0.001	T	0.39800	-0.9596	10	0.41790	T	0.15	.	5.8684	0.18789	0.2283:0.0:0.638:0.1337	.	164;137;172;164	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	54;164;172;164	ENSP00000382300:P54L;ENSP00000255486:P164L;ENSP00000338785:P172L	ENSP00000255486:P164L	P	-	2	0	STARD13	32602299	0.025000	0.19082	0.002000	0.10522	0.231000	0.25187	2.086000	0.41643	0.212000	0.20703	0.655000	0.94253	CCG		PASS	0.577	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		13	34	13	34	---	---	---	---
SIX4	51804	broad.mit.edu	37	14	61190296	61190296	+	Missense_Mutation	SNP	T	T	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr14:61190296T>C	ENST00000216513.4	-	1	556	c.497A>G	c.(496-498)tAc>tGc	p.Y166C		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	166					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y166C(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAGGATGCTGTAGAGCTCGGG	0.682																																						uc001xfc.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(496-498)TAC>TGC		sine oculis homeobox homolog 4							12.0	14.0	14.0					14																	61190296		2191	4286	6477	SO:0001583	missense	51804					nucleus		g.chr14:61190296T>C	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.497A>G	14.37:g.61190296T>C	ENSP00000216513:p.Tyr166Cys					SIX4_uc010app.1_Missense_Mutation_p.Y158C	p.Y166C	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	1	497	-			166					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.497A>G	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	T	15.20	2.761465	0.49468	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.95724	-3.79	3.63	2.45	0.29901	.	0.284399	0.35525	N	0.003152	D	0.96676	0.8915	M	0.75085	2.285	0.80722	D	1	D;P	0.89917	1.0;0.877	D;P	0.91635	0.999;0.469	D	0.95321	0.8420	10	0.87932	D	0	.	7.6664	0.28434	0.34:0.0:0.0:0.66	.	158;166	G3V2N2;Q9UIU6	.;SIX4_HUMAN	C	166;158	ENSP00000216513:Y166C	ENSP00000216513:Y166C	Y	-	2	0	SIX4	60260049	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.741000	0.68638	0.444000	0.26612	-0.341000	0.08007	TAC		PASS	0.682	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			4	43	4	43	---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62249063	62249063	+	Missense_Mutation	SNP	G	G	C	rs145109867		TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr14:62249063G>C	ENST00000216294.4	+	8	1028	c.924G>C	c.(922-924)gaG>gaC	p.E308D		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	308					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.E308D(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		GGAAAAAAGAGAAGAAAGAAA	0.393																																					NSCLC(27;223 907 37180 39193 46568)	uc001xft.2																			1	Substitution - Missense(1)		lung(1)		0						c.(922-924)GAG>GAC		small nuclear RNA activating complex,		G	ASP/GLU	0,4406		0,0,2203	88.0	87.0	88.0		924	2.5	0.0	14	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNAPC1	NM_003082.3	45	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	308/369	62249063	1,13005	2203	4300	6503	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62249063G>C	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.924G>C	14.37:g.62249063G>C	ENSP00000216294:p.Glu308Asp						p.E308D	NM_003082	NP_003073	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	8	1028	+			308						Missense_Mutation	SNP	ENST00000216294.4	37	c.924G>C	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	G	8.124	0.781531	0.16120	0.0	1.16E-4	ENSG00000023608	ENST00000216294	.	.	.	6.17	2.52	0.30459	.	0.317602	0.42172	D	0.000744	T	0.20981	0.0505	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15435	-1.0437	9	0.35671	T	0.21	-27.0435	8.932	0.35677	0.6364:0.0:0.3636:0.0	.	308	Q16533	SNPC1_HUMAN	D	308	.	ENSP00000216294:E308D	E	+	3	2	SNAPC1	61318816	0.723000	0.28027	0.003000	0.11579	0.124000	0.20399	1.228000	0.32588	0.201000	0.20466	0.655000	0.94253	GAG		PASS	0.393	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		5	70	5	70	---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62249095	62249095	+	Missense_Mutation	SNP	A	A	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr14:62249095A>C	ENST00000216294.4	+	8	1060	c.956A>C	c.(955-957)aAg>aCg	p.K319T		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	319					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.K319T(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		GCAGGAAGGAAGATGTCTCTC	0.368																																					NSCLC(27;223 907 37180 39193 46568)	uc001xft.2																			1	Substitution - Missense(1)		lung(1)		0						c.(955-957)AAG>ACG		small nuclear RNA activating complex,							82.0	83.0	83.0					14																	62249095		2203	4300	6503	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62249095A>C	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.956A>C	14.37:g.62249095A>C	ENSP00000216294:p.Lys319Thr						p.K319T	NM_003082	NP_003073	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	8	1060	+			319						Missense_Mutation	SNP	ENST00000216294.4	37	c.956A>C	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043752	0.36085	.	.	ENSG00000023608	ENST00000216294	.	.	.	6.17	3.87	0.44632	.	0.632383	0.17444	N	0.174009	T	0.33673	0.0871	L	0.51422	1.61	0.24889	N	0.99218	P	0.36282	0.546	B	0.29267	0.1	T	0.25187	-1.0139	9	0.59425	D	0.04	-9.7379	10.1871	0.43004	0.8675:0.0:0.1325:0.0	.	319	Q16533	SNPC1_HUMAN	T	319	.	ENSP00000216294:K319T	K	+	2	0	SNAPC1	61318848	0.953000	0.32496	0.632000	0.29296	0.487000	0.33371	2.185000	0.42584	1.156000	0.42514	-0.256000	0.11100	AAG		PASS	0.368	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		4	48	4	48	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69792679	69792679	+	Splice_Site	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr14:69792679C>T	ENST00000337827.4	+	5	830	c.503C>T	c.(502-504)cCg>cTg	p.P168L	GALNT16_ENST00000448469.3_Splice_Site_p.P168L|GALNT16_ENST00000553669.1_Splice_Site_p.P168L	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	168	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P168L(1)									GCATCCTCAGCGGAAGACTGT	0.562																																						uc010aqu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(502-504)CCG>CTG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							139.0	124.0	129.0					14																	69792679		2203	4300	6503	SO:0001630	splice_region_variant	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69792679C>T	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.503-1C>T	14.37:g.69792679C>T						GALNTL1_uc001xla.1_Missense_Mutation_p.P168L|GALNTL1_uc001xlb.1_Missense_Mutation_p.P168L	p.P168L	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	5	596	+			168			Catalytic subdomain A.|Lumenal (Potential).		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.503C>T	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982535	0.53827	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.61040	0.14;0.14;0.14	5.66	5.66	0.87406	Glycosyl transferase, family 2 (1);	0.479486	0.20505	N	0.091007	T	0.55305	0.1912	M	0.73319	2.225	0.80722	D	1	B;P	0.36753	0.338;0.568	B;B	0.22152	0.026;0.038	T	0.58317	-0.7657	9	.	.	.	.	19.3316	0.94293	0.0:1.0:0.0:0.0	.	168;168	Q8N428;Q58A55	GLTL1_HUMAN;.	L	168	ENSP00000336729:P168L;ENSP00000402970:P168L;ENSP00000451200:P168L	.	P	+	2	0	GALNTL1	68862432	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	4.134000	0.57990	2.672000	0.90937	0.655000	0.94253	CCG		PASS	0.562	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368	Missense_Mutation	11	100	11	100	---	---	---	---
SLC25A47	283600	broad.mit.edu	37	14	100793708	100793708	+	Splice_Site	SNP	G	G	A	rs202110884	byFrequency	TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr14:100793708G>A	ENST00000361529.3	+	4	405		c.e4+1		SLC25A47_ENST00000557052.1_Splice_Site	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CCTCGTCCGCGTGAGTAGGGG	0.662													G|||	3	0.000599042	0.0	0.0	5008	,	,		18878	0.001		0.001	False		,,,				2504	0.001				GBM(11;1289 1351)	uc001yhc.2																			1	Unknown(1)		lung(1)		0						c.e4+1		chromosome 14 open reading frame 68		G		0,4406		0,0,2203	36.0	35.0	35.0			5.0	1.0	14		35	1,8597	1.2+/-3.3	0,1,4298	yes	splice-5	SLC25A47	NM_207117.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077			100793708	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100793708G>A		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.327+1G>A	14.37:g.100793708G>A						C14orf68_uc001yhd.2_Splice_Site	p.R109_splice	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			4	400	+		Melanoma(154;0.152)						B2RP39|Q68CL2|Q6PZD8|Q86U14	Splice_Site	SNP	ENST00000361529.3	37	c.327_splice	CCDS9959.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	16.07	3.017971	0.54576	0.0	1.16E-4	ENSG00000140107	ENST00000361529	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7374	0.85451	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A47	99863461	1.000000	0.71417	0.976000	0.42696	0.445000	0.32107	7.176000	0.77643	2.635000	0.89317	0.485000	0.47835	.		PASS	0.662	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1		Intron	8	67	8	67	---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102552590	102552590	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr14:102552590C>G	ENST00000216281.8	-	2	331	c.126G>C	c.(124-126)gaG>gaC	p.E42D	HSP90AA1_ENST00000441629.2_5'UTR|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E164D	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	42					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.E164D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCAGAAAGATCTCTTTGTTCG	0.428																																						uc001yku.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(124-126)GAG>GAC		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						55.0	57.0	56.0					14																	102552590		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552590C>G	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.126G>C	14.37:g.102552590C>G	ENSP00000216281:p.Glu42Asp					HSP90AA1_uc001ykv.3_Missense_Mutation_p.E164D|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Missense_Mutation_p.E31D	p.E42D	NM_005348	NP_005339	P07900	HS90A_HUMAN			2	316	-			42					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.126G>C	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	C	8.701	0.909653	0.17833	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000553585	T;T;T	0.56444	2.08;2.08;0.46	3.79	1.89	0.25635	Heat shock protein Hsp90, conserved site (1);Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	U	0.000000	T	0.61148	0.2324	L	0.59967	1.855	0.80722	D	1	P;P	0.43314	0.803;0.634	P;P	0.60789	0.864;0.879	T	0.59511	-0.7441	10	0.59425	D	0.04	.	6.4607	0.21954	0.0:0.6285:0.0:0.3715	.	164;42	P07900-2;P07900	.;HS90A_HUMAN	D	42;164;42	ENSP00000216281:E42D;ENSP00000335153:E164D;ENSP00000450712:E42D	ENSP00000216281:E42D	E	-	3	2	HSP90AA1	101622343	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	1.883000	0.39658	0.720000	0.32209	0.573000	0.79308	GAG		PASS	0.428	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		7	72	7	72	---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102552599	102552599	+	Silent	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr14:102552599C>G	ENST00000216281.8	-	2	322	c.117G>C	c.(115-117)tcG>tcC	p.S39S	HSP90AA1_ENST00000441629.2_5'UTR|HSP90AA1_ENST00000334701.7_Silent_p.S161S	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	39					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.S161S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCTCTTTGTTCGAGTAGAAAG	0.428																																						uc001yku.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(115-117)TCG>TCC		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						57.0	59.0	58.0					14																	102552599		2203	4298	6501	SO:0001819	synonymous_variant	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552599C>G	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.117G>C	14.37:g.102552599C>G						HSP90AA1_uc001ykv.3_Silent_p.S161S|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Silent_p.S28S	p.S39S	NM_005348	NP_005339	P07900	HS90A_HUMAN			2	307	-			39					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Silent	SNP	ENST00000216281.8	37	c.117G>C	CCDS9967.1																																																																																				PASS	0.428	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		8	69	8	69	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35202438	35202438	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr15:35202438C>T	ENST00000156471.5	-	17	1786	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	521					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E521K(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGGCCACTTCAACGACAGTG	0.468																																						uc001ziv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1561-1563)GAA>AAA		aquarius							133.0	131.0	132.0					15																	35202438		1929	4127	6056	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35202438C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1561G>A	15.37:g.35202438C>T	ENSP00000156471:p.Glu521Lys						p.E521K	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	17	1742	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	521					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1561G>A	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578862	0.96565	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94046	-3.34	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	M	0.88105	2.93	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	D	0.96965	0.9704	10	0.51188	T	0.08	-19.9944	19.9112	0.97025	0.0:1.0:0.0:0.0	.	521	O60306	AQR_HUMAN	K	521	ENSP00000156471:E521K	ENSP00000156471:E521K	E	-	1	0	AQR	32989730	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.696000	0.84270	2.718000	0.92993	0.585000	0.79938	GAA		PASS	0.468	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		26	170	26	170	---	---	---	---
PYGO1	26108	broad.mit.edu	37	15	55838974	55838974	+	Silent	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr15:55838974G>A	ENST00000302000.6	-	3	601	c.507C>T	c.(505-507)gtC>gtT	p.V169V	PYGO1_ENST00000563719.1_Silent_p.V169V	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	169	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V169V(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TAGGCATGTTGACATTCTGAC	0.378																																						uc010bfl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(505-507)GTC>GTT		pygopus homolog 1							115.0	116.0	116.0					15																	55838974		2193	4292	6485	SO:0001819	synonymous_variant	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838974G>A	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.507C>T	15.37:g.55838974G>A						PYGO1_uc002adf.1_Silent_p.V169V	p.V169V	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	563	-			169			Asn-rich.		A7Y2D6	Silent	SNP	ENST00000302000.6	37	c.507C>T	CCDS10155.1																																																																																				PASS	0.378	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		26	152	26	152	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72338533	72338533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr15:72338533C>T	ENST00000356056.5	-	2	844	c.372G>A	c.(370-372)tgG>tgA	p.W124*	MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.W124*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.W124*|MYO9A_ENST00000563542.1_5'UTR|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.W124*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	124					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.W124*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACCCGTAGCCATGACTGCA	0.448																																						uc002atl.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(370-372)TGG>TGA		myosin IXA							108.0	106.0	107.0					15																	72338533		2199	4297	6496	SO:0001587	stop_gained	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338533C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.372G>A	15.37:g.72338533C>T	ENSP00000348349:p.Trp124*					MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Nonsense_Mutation_p.W124*|MYO9A_uc002atn.1_Nonsense_Mutation_p.W124*	p.W124*	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			2	845	-			124					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	37	c.372G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	c	40	7.931112	0.98568	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.4905	0.95048	0.0:1.0:0.0:0.0	.	.	.	.	X	124	.	ENSP00000261864:W124X	W	-	3	0	MYO9A	70125587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.970000	0.70431	2.698000	0.92095	0.579000	0.79373	TGG		PASS	0.448	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		35	132	35	132	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85664067	85664067	+	Missense_Mutation	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr15:85664067G>A	ENST00000310298.4	+	19	2026	c.1774G>A	c.(1774-1776)Gca>Aca	p.A592T	PDE8A_ENST00000394553.1_Missense_Mutation_p.A592T|PDE8A_ENST00000557957.1_Missense_Mutation_p.A520T|PDE8A_ENST00000339708.5_Missense_Mutation_p.A546T			O60658	PDE8A_HUMAN	phosphodiesterase 8A	592	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A592T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	TGCACTCATCGCAGCCACCAT	0.468																																						uc002blh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1774-1776)GCA>ACA		phosphodiesterase 8A isoform 1							142.0	120.0	128.0					15																	85664067		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85664067G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1774G>A	15.37:g.85664067G>A	ENSP00000311453:p.Ala592Thr					PDE8A_uc002bli.2_Missense_Mutation_p.A546T|PDE8A_uc010bnc.2_Missense_Mutation_p.A345T|PDE8A_uc010bnd.2_Missense_Mutation_p.A345T|PDE8A_uc002blj.2_Missense_Mutation_p.A212T|PDE8A_uc002blk.2_Missense_Mutation_p.A212T|PDE8A_uc002bll.2_5'UTR	p.A592T	NM_002605	NP_002596	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		18	1963	+	Colorectal(223;0.227)		592			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.1774G>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792389	0.90453	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	D;D;D	0.86956	-2.19;-2.19;-2.19	5.44	5.44	0.79542	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.103302	0.64402	D	0.000003	D	0.93690	0.7984	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.74674	0.984;0.854	D	0.94101	0.7362	10	0.87932	D	0	.	16.807	0.85708	0.0:0.0:1.0:0.0	.	546;592	O60658-2;O60658	.;PDE8A_HUMAN	T	592;592;546	ENSP00000311453:A592T;ENSP00000378056:A592T;ENSP00000340679:A546T	ENSP00000311453:A592T	A	+	1	0	PDE8A	83465071	1.000000	0.71417	0.889000	0.34880	0.558000	0.35554	9.294000	0.96088	2.828000	0.97474	0.655000	0.94253	GCA		PASS	0.468	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		34	95	34	95	---	---	---	---
HAGHL	84264	broad.mit.edu	37	16	777524	777524	+	Silent	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr16:777524C>T	ENST00000341413.4	+	2	296	c.15C>T	c.(13-15)gtC>gtT	p.V5V	HAGHL_ENST00000549114.1_Silent_p.V5V|HAGHL_ENST00000564545.1_Silent_p.V5V|HAGHL_ENST00000561546.1_Silent_p.V5V|HAGHL_ENST00000564537.1_Silent_p.V5V|NARFL_ENST00000562862.1_5'Flank|HAGHL_ENST00000389703.3_Silent_p.V5V|CCDC78_ENST00000293889.6_5'Flank			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	5							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V5V(1)		lung(3)	3		Hepatocellular(780;0.00335)				AGGTCAAGGTCATCCCCGTGC	0.672																																					Pancreas(46;538 1326 12403 32360)	uc002cjl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(13-15)GTC>GTT		hydroxyacylglutathione hydrolase-like isoform 1							71.0	53.0	59.0					16																	777524		2189	4290	6479	SO:0001819	synonymous_variant	84264						hydrolase activity|metal ion binding	g.chr16:777524C>T	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"""hydroxyacyl glutathione hydrolase-like"""			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.15C>T	16.37:g.777524C>T						CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_5'Flank|CCDC78_uc002cjg.2_5'Flank|CCDC78_uc002cjj.3_5'Flank|CCDC78_uc002cjh.2_5'Flank|CCDC78_uc010uuo.1_5'Flank|CCDC78_uc002cjk.2_5'Flank|HAGHL_uc002cjm.1_Silent_p.V5V|HAGHL_uc002cjn.1_Silent_p.V5V|HAGHL_uc002cjo.1_Silent_p.V5V|HAGHL_uc010uup.1_Silent_p.V5V	p.V5V	NM_207112	NP_996995	Q6PII5	HAGHL_HUMAN			2	296	+		Hepatocellular(780;0.00335)	5					A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Silent	SNP	ENST00000341413.4	37	c.15C>T																																																																																					PASS	0.672	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304		7	23	7	23	---	---	---	---
VASN	114990	broad.mit.edu	37	16	4431778	4431778	+	Silent	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr16:4431778C>T	ENST00000304735.3	+	2	1055	c.900C>T	c.(898-900)ttC>ttT	p.F300F	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	300	LRRCT.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)	p.F300F(1)		breast(1)|lung(3)|prostate(1)|skin(1)	6						GCAACCCCTTCAACTGCGTGT	0.687																																						uc002cwj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(898-900)TTC>TTT		slit-like 2 precursor							18.0	23.0	21.0					16																	4431778		2188	4289	6477	SO:0001819	synonymous_variant	114990					extracellular region|integral to membrane		g.chr16:4431778C>T	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.900C>T	16.37:g.4431778C>T						CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	p.F300F	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN			2	1055	+			300			Extracellular (Potential).|LRRCT.		Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	c.900C>T	CCDS10514.1																																																																																				PASS	0.687	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		6	34	6	34	---	---	---	---
ANKS4B	257629	broad.mit.edu	37	16	21262054	21262054	+	Silent	SNP	G	G	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr16:21262054G>A	ENST00000311620.5	+	2	1240	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	389	SAM.				response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)		p.L389L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AAATGCAGCTGGGTCCCAGGA	0.507																																						uc010bwp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1165-1167)CTG>CTA		harmonin-interacting ankyrin-repeat containing							76.0	77.0	77.0					16																	21262054		1987	4166	6153	SO:0001819	synonymous_variant	257629							g.chr16:21262054G>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.1167G>A	16.37:g.21262054G>A						CRYM_uc010bwq.1_Intron	p.L389L	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	1210	+			389			SAM.			Silent	SNP	ENST00000311620.5	37	c.1167G>A	CCDS42130.1																																																																																				PASS	0.507	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		36	156	36	156	---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23391849	23391849	+	Silent	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr16:23391849C>T	ENST00000343070.2	+	13	1826	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	SCNN1B_ENST00000307331.5_Silent_p.I595I|SCNN1B_ENST00000568923.1_Silent_p.I523I|SCNN1B_ENST00000568085.1_Silent_p.I514I	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	550					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.I550I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTGTGTGGATCACCATCATCA	0.627																																						uc002dln.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7						c.(1648-1650)ATC>ATT		sodium channel, nonvoltage-gated 1, beta	Amiloride(DB00594)|Triamterene(DB00384)						163.0	164.0	164.0					16																	23391849		2197	4300	6497	SO:0001819	synonymous_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23391849C>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1650C>T	16.37:g.23391849C>T							p.I550I	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	13	1826	+			550			Cytoplasmic (By similarity).		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.1650C>T	CCDS10609.1																																																																																				PASS	0.627	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			43	298	43	298	---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46694409	46694409	+	Missense_Mutation	SNP	G	G	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr16:46694409G>T	ENST00000299138.7	-	17	2424	c.2366C>A	c.(2365-2367)cCa>cAa	p.P789Q	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	789					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.P789Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTCATAAATTGGCCCCTCGGA	0.423																																						uc002eef.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2365-2367)CCA>CAA		vacuolar protein sorting 35							115.0	122.0	120.0					16																	46694409		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46694409G>T	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.2366C>A	16.37:g.46694409G>T	ENSP00000299138:p.Pro789Gln					VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Missense_Mutation_p.P750Q	p.P789Q	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			17	2465	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	789					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.2366C>A	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	15.51	2.853637	0.51270	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.37235	1.21	5.64	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.46157	1.445	0.80722	D	1	B	0.18013	0.025	B	0.15870	0.014	T	0.06661	-1.0814	10	0.25751	T	0.34	-13.4284	14.7617	0.69610	0.0695:0.0:0.9305:0.0	.	789	Q96QK1	VPS35_HUMAN	Q	789;655	ENSP00000299138:P789Q	ENSP00000299138:P789Q	P	-	2	0	VPS35	45251910	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.623000	0.98386	1.383000	0.46405	0.462000	0.41574	CCA		PASS	0.423	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			16	109	16	109	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175080	51175080	+	Silent	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr16:51175080C>T	ENST00000251020.4	-	2	1086	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	SALL1_ENST00000440970.1_Silent_p.P254P|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	351					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P351P(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTCAGAGGACGGGGTGGTAA	0.507																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(1051-1053)CCG>CCA		sal-like 1 isoform a							64.0	70.0	68.0					16																	51175080		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175080C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1053G>A	16.37:g.51175080C>T						SALL1_uc010vgr.1_Silent_p.P254P|SALL1_uc010cbv.2_Intron	p.P351P	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1084	-		all_cancers(37;0.0322)	351					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1053G>A	CCDS10747.1																																																																																				PASS	0.507	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		20	59	20	59	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70166157	70166157	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr16:70166157G>C	ENST00000288050.4	+	9	1908	c.951G>C	c.(949-951)aaG>aaC	p.K317N	PDPR_ENST00000398122.3_Missense_Mutation_p.K217N|PDPR_ENST00000568530.1_Missense_Mutation_p.K317N|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	317					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.K317N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGAGGGCAAGAACCAGCTGG	0.428																																						uc002eyf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(949-951)AAG>AAC		pyruvate dehydrogenase phosphatase regulatory							75.0	76.0	76.0					16																	70166157		1872	4109	5981	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70166157G>C		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.951G>C	16.37:g.70166157G>C	ENSP00000288050:p.Lys317Asn					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.K217N|PDPR_uc002eyg.1_Missense_Mutation_p.K45N	p.K317N	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	9	1908	+			317					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.951G>C	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158069	0.38119	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	T;T	0.28666	1.6;1.6	5.16	5.16	0.70880	FAD dependent oxidoreductase (1);	0.054309	0.64402	D	0.000001	T	0.31389	0.0795	L	0.29908	0.895	0.80722	D	1	P;B	0.44344	0.833;0.04	P;B	0.49140	0.601;0.099	T	0.05241	-1.0897	10	0.66056	D	0.02	.	11.16	0.48509	0.0845:0.0:0.9155:0.0	.	45;317	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	N	317;217;45	ENSP00000288050:K317N;ENSP00000381190:K217N	ENSP00000205055:K45N	K	+	3	2	PDPR	68723658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.088000	0.50175	2.401000	0.81631	0.650000	0.86243	AAG		PASS	0.428	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		8	110	8	110	---	---	---	---
AP1G1	164	broad.mit.edu	37	16	71803595	71803595	+	Silent	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr16:71803595G>C	ENST00000299980.4	-	6	1014	c.573C>G	c.(571-573)ctC>ctG	p.L191L	AP1G1_ENST00000433195.2_Silent_p.L214L|AP1G1_ENST00000423132.2_Silent_p.L191L|AP1G1_ENST00000569748.1_Silent_p.L191L|AP1G1_ENST00000393512.3_Silent_p.L191L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	191					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.L191L(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CAGATGTGTGGAGGACACCTG	0.418																																						uc010cgg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(571-573)CTC>CTG		adaptor-related protein complex 1, gamma 1							77.0	78.0	78.0					16																	71803595		2198	4300	6498	SO:0001819	synonymous_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71803595G>C	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.573C>G	16.37:g.71803595G>C						AP1G1_uc002fba.2_Silent_p.L191L|AP1G1_uc002fbb.2_Silent_p.L214L|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Silent_p.L273L	p.L191L	NM_001128	NP_001119	O43747	AP1G1_HUMAN			6	887	-		Ovarian(137;0.125)	191					O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.573C>G	CCDS32480.1																																																																																				PASS	0.418	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			15	136	15	136	---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81934360	81934360	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr16:81934360A>T	ENST00000359376.3	+	14	1551	c.1337A>T	c.(1336-1338)cAg>cTg	p.Q446L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	446	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Q446L(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCGCCCAGCCAGCTGCGGGAG	0.632																																						uc002fgt.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(1336-1338)CAG>CTG		phospholipase C, gamma 2							35.0	41.0	39.0					16																	81934360		2114	4230	6344	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81934360A>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1337A>T	16.37:g.81934360A>T	ENSP00000352336:p.Gln446Leu					PLCG2_uc010chg.1_Missense_Mutation_p.Q446L	p.Q446L	NM_002661	NP_002652	P16885	PLCG2_HUMAN			14	1489	+			446			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1337A>T	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	32	5.135347	0.94517	.	.	ENSG00000197943	ENST00000359376	T	0.64618	-0.11	5.03	5.03	0.67393	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.80281	0.4594	M	0.82323	2.585	0.80722	D	1	P;D	0.89917	0.797;1.0	P;D	0.83275	0.776;0.996	T	0.83332	-0.0012	10	0.62326	D	0.03	.	14.7578	0.69579	1.0:0.0:0.0:0.0	.	313;446	B4E3H3;P16885	.;PLCG2_HUMAN	L	446	ENSP00000352336:Q446L	ENSP00000352336:Q446L	Q	+	2	0	PLCG2	80491861	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.906000	0.92626	1.885000	0.54596	0.460000	0.39030	CAG		PASS	0.632	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			16	58	16	58	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000420246.2_Missense_Mutation_p.E271K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K	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	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)	ACACGCACCTCAAAGCTGTTC	0.537		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		74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(811-813)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							58.0	51.0	54.0					17																	7577127		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.chr17:7577127C>T	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.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	p.E271K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1005	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.811G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		PASS	0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	43	9	43	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7678646	7678646	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr17:7678646G>C	ENST00000572933.1	+	30	6267	c.4807G>C	c.(4807-4809)Gaa>Caa	p.E1603Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1603Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1603	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.E1603Q(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTATTTTTAGAAGGCCCTGT	0.552																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(4807-4809)GAA>CAA		dynein heavy chain domain 3							75.0	65.0	68.0					17																	7678646		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7678646G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4807G>C	17.37:g.7678646G>C	ENSP00000458355:p.Glu1603Gln						p.E1603Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			29	4821	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1603			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.4807G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595570	0.66219	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61742	0.08	5.23	5.23	0.72850	Dynein heavy chain, domain-2 (1);	0.116857	0.56097	D	0.000026	T	0.67869	0.2939	L	0.48260	1.515	0.80722	D	1	P	0.41546	0.754	P	0.56474	0.799	T	0.64723	-0.6340	10	0.37606	T	0.19	.	17.5818	0.87970	0.0:0.0:1.0:0.0	.	1603	Q9P225	DYH2_HUMAN	Q	1603	ENSP00000373825:E1603Q	ENSP00000353818:E1603Q	E	+	1	0	DNAH2	7619371	1.000000	0.71417	0.983000	0.44433	0.322000	0.28314	8.262000	0.89862	2.464000	0.83262	0.637000	0.83480	GAA		PASS	0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	21	7	21	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57093108	57093108	+	Missense_Mutation	SNP	C	C	G	rs312262700		TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr17:57093108C>G	ENST00000262294.7	-	21	2698	c.2439G>C	c.(2437-2439)ttG>ttC	p.L813F	TRIM37_ENST00000393065.2_Missense_Mutation_p.L779F|TRIM37_ENST00000376149.3_Missense_Mutation_p.L691F|TRIM37_ENST00000393066.3_Missense_Mutation_p.L813F	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	813					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L813F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGCCATGTATCAAGGCTCGGG	0.483									Mulibrey Nanism																													uc002iwy.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(2437-2439)TTG>TTC		tripartite motif-containing 37 protein							96.0	97.0	96.0					17																	57093108		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57093108C>G	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2439G>C	17.37:g.57093108C>G	ENSP00000262294:p.Leu813Phe					TRIM37_uc002iwz.3_Missense_Mutation_p.L813F|TRIM37_uc002ixa.3_Missense_Mutation_p.L691F|TRIM37_uc010woc.1_Missense_Mutation_p.L779F	p.L813F	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			21	2883	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		813					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.2439G>C	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244473	0.59103	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.93	1.7	0.24286	.	0.111883	0.38548	N	0.001649	T	0.38665	0.1049	L	0.32530	0.975	0.46044	D	0.998832	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.85130	0.997;0.996;0.991	T	0.13872	-1.0493	10	0.72032	D	0.01	-5.4166	7.8702	0.29561	0.0:0.7115:0.0:0.2885	.	779;691;813	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	F	813;813;691;779	ENSP00000376785:L813F;ENSP00000262294:L813F;ENSP00000365319:L691F;ENSP00000376784:L779F	ENSP00000262294:L813F	L	-	3	2	TRIM37	54447890	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	0.983000	0.29552	0.450000	0.26774	0.313000	0.20887	TTG		PASS	0.483	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		32	88	32	88	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7080394	7080394	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr18:7080394C>G	ENST00000389658.3	-	2	217	c.124G>C	c.(124-126)Ggc>Cgc	p.G42R	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	42	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G42R(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCCTTCTCGCCACAGGTGGCA	0.537																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(124-126)GGC>CGC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						58.0	57.0	57.0					18																	7080394		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7080394C>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.124G>C	18.37:g.7080394C>G	ENSP00000374309:p.Gly42Arg					LAMA1_uc010wzj.1_5'UTR	p.G42R	NM_005559	NP_005550	P25391	LAMA1_HUMAN			2	218	-		Colorectal(10;0.172)	42			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000389658.3	37	c.124G>C	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080920	0.94050	.	.	ENSG00000101680	ENST00000389658	D	0.88201	-2.35	5.68	5.68	0.88126	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97891	1.0297	10	0.87932	D	0	.	19.7861	0.96437	0.0:1.0:0.0:0.0	.	42	P25391	LAMA1_HUMAN	R	42	ENSP00000374309:G42R	ENSP00000374309:G42R	G	-	1	0	LAMA1	7070394	1.000000	0.71417	0.946000	0.38457	0.826000	0.46750	7.461000	0.80834	2.677000	0.91161	0.650000	0.86243	GGC		PASS	0.537	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		25	81	25	81	---	---	---	---
CAMSAP3	57662	broad.mit.edu	37	19	7676774	7676774	+	Silent	SNP	C	C	A			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:7676774C>A	ENST00000160298.4	+	11	1496	c.1395C>A	c.(1393-1395)atC>atA	p.I465I	CAMSAP3_ENST00000446248.2_Silent_p.I492I	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	465	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.I492I(2)|p.I465I(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTCTGCAGATCATCCACAGTG	0.731																																						uc002mgv.3																			3	Substitution - coding silent(3)		lung(3)	pancreas(1)	1						c.(1393-1395)ATC>ATA		NEZHA isoform 2							24.0	30.0	28.0					19																	7676774		1924	4111	6035	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7676774C>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1395C>A	19.37:g.7676774C>A						KIAA1543_uc002mgu.3_Silent_p.I492I|KIAA1543_uc002mgw.2_5'Flank	p.I465I	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN			11	1496	+			465			Pro-rich.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.1395C>A	CCDS42489.1																																																																																				PASS	0.731	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		5	39	5	39	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9045652	9045652	+	Silent	SNP	G	G	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:9045652G>T	ENST00000397910.4	-	5	36182	c.35979C>A	c.(35977-35979)acC>acA	p.T11993T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11995	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T11993T(1)|p.T7626T(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						GTGTATTGAAGGTGGTTGTTG	0.478																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(35977-35979)ACC>ACA		mucin 16							171.0	171.0	171.0					19																	9045652		1970	4149	6119	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045652G>T	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.35979C>A	19.37:g.9045652G>T							p.T11993T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	36183	-			11995			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.35979C>A	CCDS54212.1																																																																																				PASS	0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	57	9	57	---	---	---	---
PDE4C	5143	broad.mit.edu	37	19	18329162	18329162	+	Silent	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:18329162C>T	ENST00000355502.3	-	14	2083	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	PDE4C_ENST00000447275.3_Silent_p.L298L|PDE4C_ENST00000594617.3_Silent_p.L404L|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000262805.12_Silent_p.L372L|PDE4C_ENST00000539010.1_Silent_p.L173L|PDE4C_ENST00000594465.3_Silent_p.L404L|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000597297.1_Silent_p.L174L			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	404					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.L404L(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CGGGCGTAGCCAGCAGCACAT	0.667																																						uc010xqc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1210-1212)CTG>CTA		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						122.0	116.0	118.0					19																	18329162		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18329162C>T		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1212G>A	19.37:g.18329162C>T						PDE4C_uc002nik.3_Silent_p.L404L|PDE4C_uc002nil.3_Silent_p.L404L|PDE4C_uc002nif.3_Silent_p.L173L|PDE4C_uc002nig.3_Intron|PDE4C_uc002nih.3_Silent_p.L174L|PDE4C_uc010ebk.2_Silent_p.L298L|PDE4C_uc002nii.3_Silent_p.L372L|PDE4C_uc010ebl.2_Silent_p.L118L|PDE4C_uc010xqd.1_Silent_p.L173L	p.L404L	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			10	1692	-			404					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.1212G>A	CCDS12373.1																																																																																				PASS	0.667	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			27	187	27	187	---	---	---	---
FXYD5	53827	broad.mit.edu	37	19	35649254	35649254	+	Silent	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:35649254C>G	ENST00000342879.3	+	3	928	c.150C>G	c.(148-150)gtC>gtG	p.V50V	FXYD5_ENST00000541435.2_Silent_p.V50V|FXYD5_ENST00000392218.2_Silent_p.V50V|FXYD5_ENST00000543307.1_Silent_p.V50V|FXYD5_ENST00000392219.2_Silent_p.V50V|FXYD5_ENST00000588699.1_Silent_p.V50V|FXYD5_ENST00000423817.3_Silent_p.V50V|FXYD5_ENST00000590686.1_Silent_p.V50V			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	50					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)	p.V50V(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CAGATGCAGTCTACACAGAAC	0.547																																						uc002nyg.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(148-150)GTC>GTG		FXYD domain-containing ion transport regulator 5							104.0	96.0	99.0					19																	35649254		2203	4300	6503	SO:0001819	synonymous_variant	53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35649254C>G	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.150C>G	19.37:g.35649254C>G						FXYD5_uc010xsq.1_Silent_p.V50V|FXYD5_uc002nyh.1_Silent_p.V50V	p.V50V	NM_014164	NP_054883	Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		4	236	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		50			Extracellular (Potential).		B7WNZ8|Q6UW44|Q9HC34|Q9P039	Silent	SNP	ENST00000342879.3	37	c.150C>G	CCDS12447.1																																																																																				PASS	0.547	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		13	110	13	110	---	---	---	---
ZFP14	57677	broad.mit.edu	37	19	36832035	36832035	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:36832035C>G	ENST00000270001.7	-	5	808	c.693G>C	c.(691-693)aaG>aaC	p.K231N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	231					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.K231N(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCCCACACTCCTTACATTCAT	0.443																																						uc002odx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(691-693)AAG>AAC		zinc finger protein 14-like							96.0	90.0	92.0					19																	36832035		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36832035C>G	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.693G>C	19.37:g.36832035C>G	ENSP00000270001:p.Lys231Asn					ZFP14_uc010xtd.1_Missense_Mutation_p.K232N|ZFP14_uc010eex.1_Missense_Mutation_p.K231N	p.K231N	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	786	-	Esophageal squamous(110;0.162)		231			C2H2-type 3.		A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.693G>C	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	10.84	1.463729	0.26335	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.08546	3.08	4.07	2.93	0.34026	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000207	T	0.12433	0.0302	N	0.16266	0.395	0.21256	N	0.999745	D;P	0.89917	1.0;0.93	D;P	0.87578	0.998;0.836	T	0.15178	-1.0446	10	0.30078	T	0.28	.	10.7572	0.46243	0.2864:0.7136:0.0:0.0	.	231;231	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	N	231	ENSP00000270001:K231N	ENSP00000270001:K231N	K	-	3	2	ZFP14	41523875	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-1.902000	0.01596	2.259000	0.74868	0.549000	0.68633	AAG		PASS	0.443	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		22	110	22	110	---	---	---	---
ZNF570	148268	broad.mit.edu	37	19	37966894	37966894	+	Missense_Mutation	SNP	A	A	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:37966894A>T	ENST00000330173.1	+	3	674	c.145A>T	c.(145-147)Atc>Ttc	p.I49F	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.I105F	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	49	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)	p.I49F(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAACTACAGGATCTTGGTATC	0.418																																						uc002ogk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(145-147)ATC>TTC		zinc finger protein 570							129.0	123.0	125.0					19																	37966894		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37966894A>T	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.145A>T	19.37:g.37966894A>T	ENSP00000331540:p.Ile49Phe					ZNF570_uc010efl.1_Missense_Mutation_p.I105F|ZNF570_uc010xtr.1_5'UTR	p.I49F	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	674	+			49			KRAB.		A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.145A>T	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031835	0.35797	.	.	ENSG00000171827	ENST00000330173	T	0.01685	4.69	3.34	0.0314	0.14171	Krueppel-associated box (4);	.	.	.	.	T	0.02012	0.0063	L	0.46157	1.445	0.80722	D	1	B	0.24768	0.111	B	0.24974	0.057	T	0.50474	-0.8824	9	0.87932	D	0	.	5.6687	0.17711	0.5805:0.0:0.4195:0.0	.	49	Q96NI8	ZN570_HUMAN	F	49	ENSP00000331540:I49F	ENSP00000331540:I49F	I	+	1	0	ZNF570	42658734	0.000000	0.05858	0.991000	0.47740	0.965000	0.64279	0.056000	0.14256	-0.282000	0.09128	0.383000	0.25322	ATC		PASS	0.418	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		24	110	24	110	---	---	---	---
ZNF571	51276	broad.mit.edu	37	19	38055940	38055940	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:38055940G>C	ENST00000328550.2	-	4	1489	c.1390C>G	c.(1390-1392)Caa>Gaa	p.Q464E	ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.Q464E|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.Q464E|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000593133.1_Missense_Mutation_p.Q464E|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	464					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.Q464E(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCATGTTGAGTAAGATAT	0.363																																						uc002ogt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1390-1392)CAA>GAA		zinc finger protein 571							84.0	82.0	83.0					19																	38055940		2203	4300	6503	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38055940G>C	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1390C>G	19.37:g.38055940G>C	ENSP00000333660:p.Gln464Glu					uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.Q464E	p.Q464E	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1491	-			464			C2H2-type 12.		Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.1390C>G	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.200375	0.01581	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.16324	2.35;2.35;2.35	3.64	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	N	0.10809	0.05	0.09310	N	1	P	0.47302	0.893	B	0.42593	0.392	T	0.05305	-1.0893	9	0.02654	T	1	.	7.1862	0.25801	0.1337:0.0:0.8663:0.0	.	464	Q7Z3V5	ZN571_HUMAN	E	464	ENSP00000333660:Q464E;ENSP00000392638:Q464E;ENSP00000351594:Q464E	ENSP00000333660:Q464E	Q	-	1	0	ZNF571	42747780	0.000000	0.05858	0.089000	0.20774	0.868000	0.49771	-0.551000	0.06027	1.842000	0.53543	0.305000	0.20034	CAA		PASS	0.363	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		18	106	18	106	---	---	---	---
ZNF571	51276	broad.mit.edu	37	19	38056864	38056864	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:38056864G>C	ENST00000328550.2	-	4	565	c.466C>G	c.(466-468)Caa>Gaa	p.Q156E	ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.Q156E|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.Q156E|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000593133.1_Missense_Mutation_p.Q156E|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	156					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.Q156E(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTCATGTTGAATAAGGCAT	0.343																																						uc002ogt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(466-468)CAA>GAA		zinc finger protein 571							96.0	95.0	96.0					19																	38056864		2202	4300	6502	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056864G>C	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.466C>G	19.37:g.38056864G>C	ENSP00000333660:p.Gln156Glu					uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.Q156E	p.Q156E	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	567	-			156			C2H2-type 1.		Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.466C>G	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	G	1.577	-0.532592	0.04112	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.06933	3.24;3.24;3.24	3.08	-5.07	0.02938	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.11892	0.195	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.46261	-0.9204	9	0.05620	T	0.96	.	4.1203	0.10103	0.1028:0.4955:0.162:0.2397	.	156	Q7Z3V5	ZN571_HUMAN	E	156	ENSP00000333660:Q156E;ENSP00000392638:Q156E;ENSP00000351594:Q156E	ENSP00000333660:Q156E	Q	-	1	0	ZNF571	42748704	0.000000	0.05858	0.001000	0.08648	0.761000	0.43186	-2.790000	0.00767	-0.358000	0.08162	0.313000	0.20887	CAA		PASS	0.343	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		20	82	20	82	---	---	---	---
ZNF780B	163131	broad.mit.edu	37	19	40541731	40541731	+	Silent	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:40541731C>G	ENST00000434248.1	-	5	1100	c.1035G>C	c.(1033-1035)ctG>ctC	p.L345L	ZNF780B_ENST00000221355.6_Silent_p.L197L	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	345					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.L345L(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAAGCTTTGTCAGAAGAGTAA	0.438																																						uc002omu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1033-1035)CTG>CTC		zinc finger protein 780B							63.0	65.0	65.0					19																	40541731		2203	4300	6503	SO:0001819	synonymous_variant	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541731C>G	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1035G>C	19.37:g.40541731C>G						ZNF780B_uc002omv.2_Silent_p.L197L	p.L345L	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN			5	1100	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		345			C2H2-type 7.		B9EH00	Silent	SNP	ENST00000434248.1	37	c.1035G>C	CCDS46077.1																																																																																				PASS	0.438	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		11	98	11	98	---	---	---	---
SERTAD1	29950	broad.mit.edu	37	19	40928838	40928838	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:40928838C>T	ENST00000357949.4	-	2	774	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	206					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)			p.E206K(1)		endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCGGAGCTTCCTCCTTGCCC	0.612																																						uc002ont.3																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)GAA>AAA		SERTA domain containing 1							33.0	29.0	30.0					19																	40928838		2203	4300	6503	SO:0001583	missense	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40928838C>T	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.616G>A	19.37:g.40928838C>T	ENSP00000350633:p.Glu206Lys						p.E206K	NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	775	-			206					Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	37	c.616G>A	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351979	0.24512	.	.	ENSG00000197019	ENST00000357949	T	0.48201	0.82	5.34	4.22	0.49857	.	1.036980	0.07643	N	0.930714	T	0.38480	0.1042	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.30060	-0.9991	10	0.09084	T	0.74	-4.5515	10.1842	0.42986	0.0:0.7637:0.1519:0.0844	.	206	Q9UHV2	SRTD1_HUMAN	K	206	ENSP00000350633:E206K	ENSP00000350633:E206K	E	-	1	0	SERTAD1	45620678	0.040000	0.19996	0.710000	0.30468	0.439000	0.31926	0.831000	0.27476	2.499000	0.84300	0.561000	0.74099	GAA		PASS	0.612	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		4	44	4	44	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	40993680	40993680	+	Silent	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:40993680C>T	ENST00000352632.3	+	3	332	c.246C>T	c.(244-246)atC>atT	p.I82I	SPTBN4_ENST00000598249.1_Silent_p.I82I|SPTBN4_ENST00000595535.1_Silent_p.I82I|SPTBN4_ENST00000338932.3_Silent_p.I82I|SPTBN4_ENST00000344104.3_Silent_p.I82I			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	82	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.I82I(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGCCACATCGGGGACCTCT	0.657																																						uc002ony.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(244-246)ATC>ATT		spectrin, beta, non-erythrocytic 4 isoform							40.0	41.0	41.0					19																	40993680		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40993680C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.246C>T	19.37:g.40993680C>T						SPTBN4_uc002onx.2_Silent_p.I82I|SPTBN4_uc002onz.2_Silent_p.I82I	p.I82I	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		3	332	+			82			CH 1.|Actin-binding.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.246C>T	CCDS12559.1																																																																																				PASS	0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			17	76	17	76	---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43420433	43420433	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr19:43420433C>G	ENST00000292125.2	-	2	315	c.271G>C	c.(271-273)Ggg>Cgg	p.G91R	PSG6_ENST00000601833.1_Missense_Mutation_p.G20R|PSG6_ENST00000187910.2_Missense_Mutation_p.G91R|PSG6_ENST00000402603.4_Missense_Mutation_p.G91R	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	91	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.G91R(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TAGGCAGGCCCATATATAATT	0.443																																						uc002ovj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(271-273)GGG>CGG		pregnancy specific beta-1-glycoprotein 6 isoform							342.0	315.0	324.0					19																	43420433		2201	4299	6500	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43420433C>G		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.271G>C	19.37:g.43420433C>G	ENSP00000292125:p.Gly91Arg					PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.G91R|PSG6_uc002ovg.1_Missense_Mutation_p.G91R	p.G91R	NM_002782	NP_002773	Q00889	PSG6_HUMAN			2	323	-		Prostate(69;0.00899)	91			Ig-like V-type.		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.271G>C	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	13.14	2.148547	0.37923	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.67698	-0.28;-0.28;-0.28	2.24	2.24	0.28232	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84857	0.5565	H	0.95294	3.65	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.72334	-0.4325	9	0.87932	D	0	.	8.5316	0.33337	0.0:1.0:0.0:0.0	.	91;91;91	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	R	91	ENSP00000187910:G91R;ENSP00000385736:G91R;ENSP00000292125:G91R	ENSP00000187910:G91R	G	-	1	0	PSG6	48112273	0.007000	0.16637	0.008000	0.14137	0.010000	0.07245	0.601000	0.24119	1.198000	0.43158	0.194000	0.17425	GGG		PASS	0.443	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		67	452	67	452	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33589814	33589814	+	IGR	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr20:33589814G>C	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.E1956Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.E1956Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGATGATGCGGAGGAGCGGGC	0.667																																						uc002xbi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(5866-5868)GAG>CAG		myosin, heavy polypeptide 7B, cardiac muscle,							45.0	56.0	52.0					20																	33589814		2199	4300	6499	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33589814G>C	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33589814G>C							p.E1956Q	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		42	5958	+			1914			Potential.		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.5866G>C	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757945	0.49468	.	.	ENSG00000078814	ENST00000262873;ENST00000446156;ENST00000453028;ENST00000435272;ENST00000433934;ENST00000456649	D;D;D;T;T;D	0.83250	-1.63;-1.64;-1.63;1.91;1.91;-1.7	4.24	4.24	0.50183	Myosin tail (1);	0.000000	0.35179	N	0.003391	D	0.84615	0.5511	M	0.80422	2.495	0.48571	D	0.999675	B	0.27166	0.17	B	0.30029	0.11	D	0.85236	0.1035	10	0.54805	T	0.06	.	16.8166	0.85735	0.0:0.0:1.0:0.0	.	1914	A7E2Y1	MYH7B_HUMAN	Q	1956;111;89;116;116;89	ENSP00000262873:E1956Q;ENSP00000395858:E111Q;ENSP00000409103:E89Q;ENSP00000391939:E116Q;ENSP00000412594:E116Q;ENSP00000396368:E89Q	ENSP00000262873:E1956Q	E	+	1	0	MYH7B	33053475	1.000000	0.71417	0.919000	0.36401	0.441000	0.31987	6.375000	0.73137	2.207000	0.71202	0.561000	0.74099	GAG		PASS	0.667	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		19	87	19	87	---	---	---	---
EWSR1	2130	broad.mit.edu	37	22	29692264	29692264	+	Missense_Mutation	SNP	C	C	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr22:29692264C>G	ENST00000397938.2	+	12	1519	c.1200C>G	c.(1198-1200)atC>atG	p.I400M	EWSR1_ENST00000332050.6_Missense_Mutation_p.I327M|EWSR1_ENST00000332035.6_Missense_Mutation_p.I344M|EWSR1_ENST00000406548.1_Missense_Mutation_p.I399M|EWSR1_ENST00000331029.7_Missense_Mutation_p.I362M|EWSR1_ENST00000414183.2_Missense_Mutation_p.I405M	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	400	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I400M(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGATCCACATCTACCTGGACA	0.468			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	uc003aet.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1		Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma	EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	1	Substitution - Missense(1)		lung(1)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						c.(1198-1200)ATC>ATG		Ewing sarcoma breakpoint region 1 isoform 2							102.0	83.0	90.0					22																	29692264		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29692264C>G		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1200C>G	22.37:g.29692264C>G	ENSP00000381031:p.Ile400Met					EWSR1_uc003aev.2_Missense_Mutation_p.I405M|EWSR1_uc003aew.2_Missense_Mutation_p.I344M|EWSR1_uc003aex.2_Missense_Mutation_p.I399M|EWSR1_uc003aey.2_Missense_Mutation_p.I195M|EWSR1_uc003aez.2_Missense_Mutation_p.I61M	p.I400M	NM_005243	NP_005234	Q01844	EWS_HUMAN			12	1528	+			400			RRM.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1200C>G	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.26|17.26	3.343202|3.343202	0.61073|0.61073	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035|ENST00000360091	T;T;T;T;T;T|.	0.10573|.	2.86;2.86;2.86;2.86;2.86;2.86|.	5.27|5.27	-1.31|-1.31	0.09230|0.09230	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.064391|.	0.64402|.	U|.	0.000017|.	T|T	0.47078|0.47078	0.1426|0.1426	L|L	0.58428|0.58428	1.81|1.81	0.38652|0.38652	D|D	0.951861|0.951861	D;P;D;P;P|.	0.61697|.	0.99;0.918;0.99;0.744;0.918|.	D;D;D;P;D|.	0.79108|.	0.992;0.969;0.992;0.578;0.969|.	T|T	0.47100|0.47100	-0.9143|-0.9143	10|5	0.52906|.	T|.	0.07|.	.|.	1.7127|1.7127	0.02895|0.02895	0.2398:0.4028:0.1072:0.2502|0.2398:0.4028:0.1072:0.2502	.|.	344;399;344;405;400|.	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844|.	.;.;.;.;EWS_HUMAN|.	M|V	327;400;399;362;405;344|56	ENSP00000330896:I327M;ENSP00000381031:I400M;ENSP00000385726:I399M;ENSP00000330516:I362M;ENSP00000400142:I405M;ENSP00000331699:I344M|.	ENSP00000330516:I362M|.	I|L	+|+	3|1	3|2	EWSR1|EWSR1	28022264|28022264	0.341000|0.341000	0.24801|0.24801	0.978000|0.978000	0.43139|0.43139	0.999000|0.999000	0.98932|0.98932	-0.282000|-0.282000	0.08445|0.08445	-0.047000|-0.047000	0.13423|0.13423	0.655000|0.655000	0.94253|0.94253	ATC|CTA		PASS	0.468	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		22	83	22	83	---	---	---	---
UBA1	7317	broad.mit.edu	37	X	47070251	47070251	+	Missense_Mutation	SNP	C	C	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chrX:47070251C>T	ENST00000335972.6	+	19	2393	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	UBA1_ENST00000377269.3_Missense_Mutation_p.S185L|UBA1_ENST00000377351.4_Missense_Mutation_p.S737L	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	737					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.S737L(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCACAAGCTCAGGAGCGCCG	0.542																																						uc004dhj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2209-2211)TCA>TTA		ubiquitin-activating enzyme E1							100.0	76.0	84.0					X																	47070251		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47070251C>T	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2210C>T	X.37:g.47070251C>T	ENSP00000338413:p.Ser737Leu					UBA1_uc004dhk.3_Missense_Mutation_p.S737L|UBA1_uc004dhm.2_Missense_Mutation_p.S185L	p.S737L	NM_153280	NP_695012	P22314	UBA1_HUMAN			19	2361	+			737					Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.2210C>T	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193597	0.38707	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.64618	-0.11;-0.11;-0.11	4.76	4.76	0.60689	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.127889	0.53938	D	0.000046	T	0.76435	0.3987	M	0.87682	2.9	0.80722	D	1	D;D	0.57899	0.981;0.961	P;P	0.54629	0.625;0.757	T	0.81493	-0.0908	10	0.66056	D	0.02	-10.2894	13.9467	0.64089	0.0:1.0:0.0:0.0	.	185;737	Q5JRR6;P22314	.;UBA1_HUMAN	L	737;737;185	ENSP00000366568:S737L;ENSP00000338413:S737L;ENSP00000366481:S185L	ENSP00000338413:S737L	S	+	2	0	UBA1	46955195	1.000000	0.71417	0.934000	0.37439	0.078000	0.17371	7.214000	0.77958	2.353000	0.79882	0.529000	0.55759	TCA		PASS	0.542	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		9	13	9	13	---	---	---	---
PORCN	64840	broad.mit.edu	37	X	48378761	48378761	+	Splice_Site	SNP	A	A	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chrX:48378761A>T	ENST00000326194.6	+	14	1327		c.e14-1		EBP_ENST00000495186.1_5'Flank|PORCN_ENST00000537758.1_Splice_Site|PORCN_ENST00000355961.4_Splice_Site|PORCN_ENST00000367574.4_Splice_Site|PORCN_ENST00000355092.3_Splice_Site|PORCN_ENST00000361988.3_Splice_Site|PORCN_ENST00000359882.4_Splice_Site	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)						glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.?(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTCTCCCACAGGGCTACGGC	0.522																																						uc010nie.1																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e15-2		porcupine isoform D							126.0	97.0	107.0					X																	48378761		2203	4300	6503	SO:0001630	splice_region_variant	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48378761A>T	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.1285-1A>T	X.37:g.48378761A>T						PORCN_uc004djr.1_Splice_Site_p.G424_splice|PORCN_uc004djs.1_Splice_Site_p.G418_splice|PORCN_uc004djt.1_Splice_Site_p.G347_splice|PORCN_uc011mlx.1_Splice_Site_p.G347_splice|PORCN_uc004dju.1_Splice_Site_p.G287_splice|PORCN_uc004djv.1_Splice_Site_p.G429_splice|PORCN_uc004djw.1_Splice_Site_p.G423_splice|EBP_uc004djx.3_5'Flank|EBP_uc004djy.3_5'Flank|EBP_uc004djz.2_5'Flank	p.G429_splice	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			15	1443	+								B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Splice_Site	SNP	ENST00000326194.6	37	c.1285_splice	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	a	19.87	3.907268	0.72868	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8382	0.52338	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PORCN	48263705	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.944000	0.87722	1.697000	0.51169	0.376000	0.23039	.		PASS	0.522	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825	Intron	18	45	18	45	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73064048	73064048	+	lincRNA	SNP	A	A	G			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chrX:73064048A>G	ENST00000429829.1	-	0	8540					NR_001564.2				X inactive specific transcript (non-protein coding)																		TATACTGCAAATGGAGGGTGA	0.408																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							260.0	241.0	246.0					X																	73064048		876	1991	2867			7503							g.chrX:73064048A>G	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73064048A>G								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.8541T>C																																																																																					PASS	0.408	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		49	106	49	106	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134987410	134987410	+	Splice_Site	SNP	G	G	T			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chrX:134987410G>T	ENST00000370709.3	+	4	313		c.e4-1		SAGE1_ENST00000324447.3_Splice_Site|SAGE1_ENST00000537770.1_Splice_Site|SAGE1_ENST00000535938.1_Splice_Site			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1							nucleus (GO:0005634)		p.?(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCGGTTTCCAGATGCTACCAT	0.438																																						uc004ezh.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(1)	3						c.e5-1		sarcoma antigen 1							139.0	97.0	111.0					X																	134987410		2203	4300	6503	SO:0001630	splice_region_variant	55511							g.chrX:134987410G>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.314-1G>T	X.37:g.134987410G>T						SAGE1_uc010nry.1_Splice_Site_p.D74_splice|SAGE1_uc011mvv.1_Splice_Site_p.D105_splice	p.D105_splice	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			5	481	+	Acute lymphoblastic leukemia(192;0.000127)							Q5JNW0	Splice_Site	SNP	ENST00000370709.3	37	c.314_splice	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	3.436	-0.115056	0.06881	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	.	.	.	1.32	1.32	0.21799	.	.	.	.	.	.	.	.	.	.	.	0.22266	N	0.999242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5445	0.17055	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SAGE1	134815076	0.741000	0.28217	0.002000	0.10522	0.005000	0.04900	2.560000	0.45896	0.932000	0.37266	0.284000	0.19432	.		PASS	0.438	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	Intron	25	59	25	59	---	---	---	---
MAGEA3	4102	broad.mit.edu	37	X	151935729	151935729	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chrX:151935729G>C	ENST00000393902.3	-	3	1005	c.438C>G	c.(436-438)ttC>ttG	p.F146L	MAGEA3_ENST00000370278.3_Missense_Mutation_p.F146L			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	146	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.F146L(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TCACAGGAAAGAAATACTGCC	0.517																																						uc004fgp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)TTC>TTG		melanoma antigen family A, 3							151.0	134.0	140.0					X																	151935729		2203	4294	6497	SO:0001583	missense	4102							g.chrX:151935729G>C		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.438C>G	X.37:g.151935729G>C	ENSP00000377480:p.Phe146Leu						p.F146L	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	647	-	Acute lymphoblastic leukemia(192;6.56e-05)		146			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.438C>G	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	g	5.236	0.229074	0.09916	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.04360	3.64;3.64;3.64	1.42	-0.662	0.11413	.	0.731798	0.13487	N	0.384239	T	0.02688	0.0081	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40887	-0.9539	10	0.56958	D	0.05	.	4.0477	0.09781	0.4728:0.0:0.5272:0.0	.	146	P43357	MAGA3_HUMAN	L	146	ENSP00000359301:F146L;ENSP00000377480:F146L;ENSP00000392758:F146L	ENSP00000359301:F146L	F	-	3	2	MAGEA3	151686385	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.603000	0.05674	-0.312000	0.08741	-0.585000	0.04130	TTC		PASS	0.517	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		45	103	45	103	---	---	---	---
USP9Y	8287	broad.mit.edu	37	Y	14922619	14922619	+	Missense_Mutation	SNP	G	G	C			TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chrY:14922619G>C	ENST00000338981.3	+	29	5050	c.4105G>C	c.(4105-4107)Gag>Cag	p.E1369Q	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1369					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.E1369Q(1)		kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CACAGCAAGAGAGAAGGGTAA	0.318																																						uc004fst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(4105-4107)GAG>CAG		ubiquitin specific protease 9, Y-linked							56.0	65.0	63.0					Y																	14922619		585	1912	2497	SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14922619G>C	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.4105G>C	Y.37:g.14922619G>C	ENSP00000342812:p.Glu1369Gln					USP9Y_uc010nwu.1_RNA	p.E1369Q	NM_004654	NP_004645	O00507	USP9Y_HUMAN			29	5050	+			1369					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.4105G>C	CCDS14781.1																																																																																				PASS	0.318	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		3	23	3	23	---	---	---	---
APOB	338	broad.mit.edu	37	2	21266775	21266783	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs17240441	byFrequency	TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr2:21266775_21266783delGCAGCGCCA	ENST00000233242.1	-	1	162_170	c.35_43delTGGCGCTGC	c.(34-45)ctggcgctgcct>cct	p.LAL12del	APOB_ENST00000399256.4_In_Frame_Del_p.LAL12del	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	12			Missing. {ECO:0000269|PubMed:22095935}.	Missing (in Ref. 5; AAB60718/CAA28420). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					agcagcgcaggcagcgccagcagcgccag	0.794														1108	0.221246	0.202	0.3271	5008	,	,		8689	0.1815		0.3012	False		,,,				2504	0.1309					uc002red.2																			0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	GRCh37	CD068106	APOB	D	rs17240441	c.(34-45)CTGGCGCTGCCT>CCT		apolipoprotein B precursor	Atorvastatin(DB01076)			24,258		10,4,127						-3.0	0.0		dbSNP_123	1	109,613		53,3,305	no	coding	APOB	NM_000384.2		63,7,432	A1A1,A1R,RR		15.097,8.5106,13.247				133,871				SO:0001651	inframe_deletion	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21266775_21266783delGCAGCGCCA	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.35_43delTGGCGCTGC	2.37:g.21266784_21266792delGCAGCGCCA	ENSP00000233242:p.Leu12_Leu14del						p.LAL12del	NM_000384	NP_000375	P04114	APOB_HUMAN			1	163_171	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		12_14					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_Del	DEL	ENST00000233242.1	37	c.35_43delTGGCGCTGC	CCDS1703.1																																																																																					0.794	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			4	2	4	2	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-22-1011-01A-01D-1521-08	TCGA-22-1011-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c9924f9f-fd86-434c-a83d-393d65272e64	db1a34ae-8288-4f5b-bcb9-eecbc91063ca	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						uc001jcx.3																			1	Deletion - In frame(1)		central_nervous_system(1)	ovary(1)	1						c.(106-129)GCTGGGGACAGGATGGCAGGAGCG>GCG		ArfGAP with GTPase domain, ankyrin repeat and PH				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_uc010qfl.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.3_5'UTR	p.36_43AGDRMAGA>A	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN			1	234_254	-			36_43						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																					0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		4	3	4	3	---	---	---	---
