#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
H6PD	9563	broad.mit.edu	37	1	9324107	9324107	+	Missense_Mutation	SNP	C	C	T	rs35863691		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:9324107C>T	ENST00000377403.2	+	5	1857	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	H6PD_ENST00000602477.1_Missense_Mutation_p.R530W	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	519	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTAGCGGCCGGTTGTTCTT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16803	0.001		0.0	False		,,,				2504	0.0					uc001apt.2		NaN																	0					0						c.(1555-1557)CGG>TGG		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)	C	TRP/ARG	2,4404	2.1+/-5.4	0,2,2201	62.0	76.0	71.0		1555	5.7	0.2	1	dbSNP_126	71	0,8600		0,0,4300	yes	missense	H6PD	NM_004285.3	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	519/792	9324107	2,13004	2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324107C>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1555C>T	1.37:g.9324107C>T	ENSP00000366620:p.Arg519Trp						p.R519W	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	1828	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	519			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1555C>T	CCDS101.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.44	2.535446	0.45176	4.54E-4	0.0	ENSG00000049239	ENST00000377403	D	0.98381	-4.9	5.67	5.67	0.87782	.	0.466208	0.25564	N	0.029819	D	0.93074	0.7795	N	0.08118	0	0.09310	N	0.999998	D	0.59357	0.985	B	0.36766	0.232	D	0.88674	0.3197	10	0.66056	D	0.02	-11.2566	13.7052	0.62633	0.0:0.7428:0.2571:0.0	rs35863691	519	O95479	G6PE_HUMAN	W	519	ENSP00000366620:R519W	ENSP00000366620:R519W	R	+	1	2	H6PD	9246694	0.064000	0.20934	0.207000	0.23584	0.955000	0.61496	1.768000	0.38511	2.677000	0.91161	0.561000	0.74099	CGG		0.637	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2		NM_004285		23	233	0	0	0	0.00278	0	23	233		
PLA2G2A	5320	broad.mit.edu	37	1	20302318	20302318	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:20302318C>T	ENST00000375111.3	-	6	582	c.311G>A	c.(310-312)aGa>aAa	p.R104K	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.R104K|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	104					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|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)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		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;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	CAGTTGACTTCTGCAGGAGTC	0.408																																						uc001bcu.2		NaN																	0					0						c.(310-312)AGA>AAA		phospholipase A2, group IIA precursor							93.0	89.0	90.0					1																	20302318		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20302318C>T	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.311G>A	1.37:g.20302318C>T	ENSP00000364252:p.Arg104Lys					PLA2G2A_uc001bcv.2_Missense_Mutation_p.R104K|PLA2G2A_uc010oda.1_Missense_Mutation_p.R104K|PLA2G2A_uc010odb.1_Missense_Mutation_p.R104K	p.R104K	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	529	-		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)	104					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.311G>A	CCDS201.1	.	.	.	.	.	.	.	.	.	.	C	1.466	-0.561004	0.03939	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.10005	2.92;2.92	5.0	-4.83	0.03161	Phospholipase A2 (3);	1.158180	0.06626	N	0.758302	T	0.04407	0.0121	N	0.05259	-0.085	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.47649	-0.9101	10	0.02654	T	1	.	12.7326	0.57206	0.0:0.2642:0.0:0.7358	.	104	P14555	PA2GA_HUMAN	K	104	ENSP00000383364:R104K;ENSP00000364252:R104K	ENSP00000364252:R104K	R	-	2	0	PLA2G2A	20174905	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.459000	0.02370	-0.849000	0.04158	0.563000	0.77884	AGA		0.408	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1		NM_000300		10	39	0	0	0	0.008291	0	10	39		
KIF2C	11004	broad.mit.edu	37	1	45226006	45226006	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:45226006C>T	ENST00000372224.4	+	15	1535	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	KIF2C_ENST00000372222.3_Silent_p.F361F|KIF2C_ENST00000372217.1_Silent_p.F420F|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Silent_p.F433F|RP11-269F19.2_ENST00000440985.1_RNA	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	474	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ACGCGTGCTTCCAAATTATTC	0.527																																						uc001cmg.3		NaN																	0				ovary(1)	1						c.(1420-1422)TTC>TTT		kinesin family member 2C							65.0	65.0	65.0					1																	45226006		2203	4300	6503	SO:0001819	synonymous_variant	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45226006C>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1422C>T	1.37:g.45226006C>T						KIF2C_uc010olb.1_Silent_p.F433F|KIF2C_uc010olc.1_Silent_p.F361F|KIF2C_uc001cmh.3_Silent_p.F420F	p.F474F	NM_006845	NP_006836	Q99661	KIF2C_HUMAN			15	1537	+	Acute lymphoblastic leukemia(166;0.155)		474			Kinesin-motor.		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Silent	SNP	ENST00000372224.4	37	c.1422C>T	CCDS512.1																																																																																				0.527	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1		NM_006845		33	23	0	0	0	0.003755	0	33	23		
ZCCHC11	23318	broad.mit.edu	37	1	52941116	52941116	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:52941116C>T	ENST00000371544.3	-	13	2377	c.2115G>A	c.(2113-2115)cgG>cgA	p.R705R	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.R705R	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	705					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGGCAAAATACCGATAAGCTG	0.418																																						uc001ctx.2		NaN																	0				ovary(2)|skin(1)	3						c.(2113-2115)CGG>CGA		zinc finger, CCHC domain containing 11 isoform							75.0	74.0	74.0					1																	52941116		2203	4300	6503	SO:0001819	synonymous_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52941116C>T	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2115G>A	1.37:g.52941116C>T						ZCCHC11_uc001cty.2_Silent_p.R705R|ZCCHC11_uc001ctz.2_Silent_p.R705R|ZCCHC11_uc009vze.1_Silent_p.R705R|ZCCHC11_uc009vzf.1_Silent_p.R464R|ZCCHC11_uc001cub.2_Silent_p.R705R	p.R705R	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			13	2349	-			705					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.2115G>A	CCDS30716.1																																																																																				0.418	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1		XM_038288		19	55	0	0	0	0.007413	0	19	55		
GBP4	115361	broad.mit.edu	37	1	89661003	89661003	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:89661003C>T	ENST00000355754.6	-	3	437	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	114	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCCAGGCCCTCGGTGTCCAGA	0.522																																						uc001dnb.2		NaN																	0					0						c.(340-342)GAG>AAG		guanylate binding protein 4							112.0	106.0	108.0					1																	89661003		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89661003C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.340G>A	1.37:g.89661003C>T	ENSP00000359490:p.Glu114Lys						p.E114K	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	3	456	-			114			GTP (By similarity).		B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.340G>A	CCDS721.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618521	0.87359	.	.	ENSG00000162654	ENST00000355754	T	0.64803	-0.12	5.29	5.29	0.74685	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86518	0.5952	H	0.98918	4.37	0.46823	D	0.999212	D	0.89917	1.0	D	0.97110	1.0	D	0.91160	0.4960	10	0.72032	D	0.01	.	16.4548	0.84008	0.0:1.0:0.0:0.0	.	114	Q96PP9	GBP4_HUMAN	K	114	ENSP00000359490:E114K	ENSP00000359490:E114K	E	-	1	0	GBP4	89433591	1.000000	0.71417	0.996000	0.52242	0.592000	0.36648	5.780000	0.68956	2.754000	0.94517	0.591000	0.81541	GAG		0.522	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1		NM_052941		55	111	0	0	0	0.01441	0	55	111		
SLC44A3	126969	broad.mit.edu	37	1	95360474	95360474	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:95360474G>C	ENST00000271227.6	+	15	2060	c.1958G>C	c.(1957-1959)aGa>aCa	p.R653T	SLC44A3_ENST00000467909.1_Missense_Mutation_p.R605T|SLC44A3_ENST00000529450.1_Missense_Mutation_p.R620T|SLC44A3_ENST00000527077.1_Missense_Mutation_p.R585T|SLC44A3_ENST00000446120.2_Missense_Mutation_p.R617T|SLC44A3_ENST00000532427.1_Missense_Mutation_p.R573T	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	653					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCCATTGTGAGATAGATACCC	0.393																																						uc001dqv.3		NaN																	0				kidney(1)	1						c.(1957-1959)AGA>ACA		solute carrier family 44, member 3 isoform 1	Choline(DB00122)						89.0	80.0	83.0					1																	95360474		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95360474G>C	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1958G>C	1.37:g.95360474G>C	ENSP00000271227:p.Arg653Thr					SLC44A3_uc001dqx.3_Missense_Mutation_p.R652T|SLC44A3_uc010otq.1_Missense_Mutation_p.R585T|SLC44A3_uc010otr.1_Missense_Mutation_p.R617T|SLC44A3_uc001dqw.3_Missense_Mutation_p.R605T|SLC44A3_uc010ots.1_Missense_Mutation_p.R573T|SLC44A3_uc009wds.2_Missense_Mutation_p.R556T|SLC44A3_uc010ott.1_Missense_Mutation_p.R572T	p.R653T	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	15	2065	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	653					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.1958G>C	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044375	0.55110	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427;ENST00000532670	T;T;T;T;T;T	0.20332	2.57;2.77;2.08;2.09;2.58;2.1	5.57	4.64	0.57946	.	0.000000	0.42548	D	0.000694	T	0.06325	0.0163	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.21753	0.036;0.06;0.036;0.036;0.036	B;B;B;B;B	0.20184	0.012;0.028;0.012;0.012;0.012	T	0.22521	-1.0214	10	0.72032	D	0.01	.	13.5603	0.61784	0.0:0.1564:0.8436:0.0	.	573;617;585;620;653	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	T	617;653;585;620;605;573;109	ENSP00000389143:R617T;ENSP00000271227:R653T;ENSP00000433641:R585T;ENSP00000431836:R620T;ENSP00000432789:R605T;ENSP00000436661:R573T	ENSP00000271227:R653T	R	+	2	0	SLC44A3	95133062	1.000000	0.71417	0.003000	0.11579	0.056000	0.15407	2.972000	0.49256	1.309000	0.44985	0.555000	0.69702	AGA		0.393	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3		NM_152369		23	40	0	0	0	0.00632	0	23	40		
OLFM3	118427	broad.mit.edu	37	1	102271652	102271652	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:102271652C>G	ENST00000338858.5	-	5	738	c.739G>C	c.(739-741)Gca>Cca	p.A247P	OLFM3_ENST00000370103.4_Missense_Mutation_p.A227P|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	247	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTCTCAGATGCTAAAGGGTCT	0.398																																						uc001duf.2		NaN																	0				ovary(2)|skin(1)	3						c.(739-741)GCA>CCA		olfactomedin 3							164.0	149.0	154.0					1																	102271652		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102271652C>G	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.739G>C	1.37:g.102271652C>G	ENSP00000345192:p.Ala247Pro					OLFM3_uc001dug.2_Missense_Mutation_p.A227P|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.A152P|OLFM3_uc001due.2_RNA	p.A247P	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	5	810	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	247			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.739G>C		.	.	.	.	.	.	.	.	.	.	C	18.87	3.715743	0.68844	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.90133	-2.62;-2.62	5.17	5.17	0.71159	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	L	0.37750	1.13	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.974;0.998	D	0.85478	0.1177	10	0.02654	T	1	.	18.667	0.91493	0.0:1.0:0.0:0.0	.	227;247	Q5T3V6;Q96PB7	.;NOE3_HUMAN	P	98;227;247	ENSP00000359121:A227P;ENSP00000345192:A247P	ENSP00000345192:A247P	A	-	1	0	OLFM3	102044240	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.747000	0.85070	2.423000	0.82170	0.591000	0.81541	GCA		0.398	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1				15	135	0	0	0	0.007413	0	15	135		
WDR47	22911	broad.mit.edu	37	1	109538452	109538452	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:109538452G>C	ENST00000369962.3	-	8	1663	c.1441C>G	c.(1441-1443)Caa>Gaa	p.Q481E	WDR47_ENST00000400794.3_Missense_Mutation_p.Q489E|WDR47_ENST00000361054.3_Missense_Mutation_p.Q453E|WDR47_ENST00000357672.3_Missense_Mutation_p.Q453E|WDR47_ENST00000369965.4_Missense_Mutation_p.Q482E			O94967	WDR47_HUMAN	WD repeat domain 47	481					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CCAAGCTTTTGAATGGACCTA	0.313																																						uc001dwj.2		NaN																	0				ovary(1)	1						c.(1441-1443)CAA>GAA		WD repeat domain 47 isoform 3							77.0	81.0	80.0					1																	109538452		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109538452G>C	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1441C>G	1.37:g.109538452G>C	ENSP00000358979:p.Gln481Glu					WDR47_uc001dwl.2_Missense_Mutation_p.Q489E|WDR47_uc001dwi.2_Missense_Mutation_p.Q482E|WDR47_uc001dwk.2_Missense_Mutation_p.Q453E|WDR47_uc010ovf.1_Missense_Mutation_p.Q408E	p.Q481E	NM_001142551	NP_001136023	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	8	1817	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	481					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.1441C>G	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863969	0.51482	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.58060	0.36;0.4;0.37;0.36;0.37	5.53	5.53	0.82687	.	0.051683	0.85682	D	0.000000	T	0.24736	0.0600	L	0.34521	1.04	0.48395	D	0.999648	B;B;B;B	0.33171	0.4;0.278;0.172;0.026	B;B;B;B	0.28011	0.085;0.039;0.039;0.037	T	0.06391	-1.0829	10	0.18710	T	0.47	-32.6577	14.632	0.68663	0.0:0.0:0.8543:0.1456	.	453;489;481;482	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	E	489;481;453;482;453	ENSP00000383599:Q489E;ENSP00000358979:Q481E;ENSP00000354339:Q453E;ENSP00000358982:Q482E;ENSP00000350301:Q453E	ENSP00000350301:Q453E	Q	-	1	0	WDR47	109339975	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.768000	0.74980	2.746000	0.94184	0.561000	0.74099	CAA		0.313	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2		NM_014969		24	78	0	0	0	0.00278	0	24	78		
KCND3	3752	broad.mit.edu	37	1	112525046	112525046	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:112525046C>T	ENST00000315987.2	-	2	782	c.303G>A	c.(301-303)ggG>ggA	p.G101G	KCND3_ENST00000369697.1_Silent_p.G101G|KCND3_ENST00000302127.4_Silent_p.G101G	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	101					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGTGCAGCTTCCCCGTGCGGT	0.607																																						uc001ebu.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(301-303)GGG>GGA		potassium voltage-gated channel, Shal-related							119.0	104.0	109.0					1																	112525046		2203	4300	6503	SO:0001819	synonymous_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112525046C>T	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.303G>A	1.37:g.112525046C>T						KCND3_uc001ebv.1_Silent_p.G101G	p.G101G	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	783	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	101			Cytoplasmic (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	37	c.303G>A	CCDS843.1																																																																																				0.607	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1		NM_172198		30	139	0	0	0	0.003755	0	30	139		
ATP1A1	476	broad.mit.edu	37	1	116932065	116932065	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:116932065C>T	ENST00000295598.5	+	8	1011	c.759C>T	c.(757-759)acC>acT	p.T253T	ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000369496.4_Silent_p.T222T|ATP1A1_ENST00000537345.1_Silent_p.T253T	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	253					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.T253T(3)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TTTAAGGCACCGCACGTGGTA	0.473																																						uc001ege.2		NaN																	3	Substitution - coding silent(3)		large_intestine(2)|lung(1)	ovary(1)	1						c.(757-759)ACC>ACT		Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						196.0	187.0	190.0					1																	116932065		2203	4300	6503	SO:0001819	synonymous_variant	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116932065C>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.759C>T	1.37:g.116932065C>T						ATP1A1_uc010owv.1_Silent_p.T222T|ATP1A1_uc010oww.1_Silent_p.T253T|ATP1A1_uc010owx.1_Silent_p.T222T	p.T253T	NM_000701	NP_000692	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	8	1098	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	253			Cytoplasmic (Potential).		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	c.759C>T	CCDS887.1																																																																																				0.473	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5		NM_001160233		46	193	0	0	0	0.01441	0	46	193		
ATP1A1	476	broad.mit.edu	37	1	116932235	116932235	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:116932235C>G	ENST00000295598.5	+	8	1181	c.929C>G	c.(928-930)tCt>tGt	p.S310C	ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000369496.4_Missense_Mutation_p.S279C|ATP1A1_ENST00000537345.1_Missense_Mutation_p.S310C	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	310					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TTCATCCTTTCTCTCATCCTT	0.507																																						uc001ege.2		NaN																	0				ovary(1)	1						c.(928-930)TCT>TGT		Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						266.0	205.0	225.0					1																	116932235		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116932235C>G	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.929C>G	1.37:g.116932235C>G	ENSP00000295598:p.Ser310Cys					ATP1A1_uc010owv.1_Missense_Mutation_p.S279C|ATP1A1_uc010oww.1_Missense_Mutation_p.S310C|ATP1A1_uc010owx.1_Missense_Mutation_p.S279C	p.S310C	NM_000701	NP_000692	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	8	1268	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	310			Extracellular (Potential).		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.929C>G	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847308	0.71603	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.91521	-2.86;-2.86;-2.86	5.03	4.07	0.47477	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	L	0.50333	1.59	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.69824	0.943;0.966	D	0.91007	0.4847	10	0.45353	T	0.12	.	15.0012	0.71473	0.1424:0.8576:0.0:0.0	.	310;310	F5H3A1;P05023	.;AT1A1_HUMAN	C	310;310;309;279	ENSP00000295598:S310C;ENSP00000445306:S310C;ENSP00000358508:S279C	ENSP00000295598:S310C	S	+	2	0	ATP1A1	116733758	1.000000	0.71417	0.712000	0.30502	0.664000	0.39144	5.910000	0.69931	2.635000	0.89317	0.650000	0.86243	TCT		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5		NM_001160233		16	56	0	0	0	0.007413	0	16	56		
TARS2	80222	broad.mit.edu	37	1	150459941	150459941	+	Missense_Mutation	SNP	G	G	C	rs375480908		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150459941G>C	ENST00000369064.3	+	1	49	c.15G>C	c.(13-15)caG>caC	p.Q5H	TARS2_ENST00000606933.1_Missense_Mutation_p.Q5H|TARS2_ENST00000369054.2_Missense_Mutation_p.Q5H|TARS2_ENST00000438568.2_Missense_Mutation_p.Q5H	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	5					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCCTGTATCAGAGGTGGCGGT	0.552																																						uc001euq.2		NaN																	0				ovary(1)	1						c.(13-15)CAG>CAC		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						127.0	105.0	113.0					1																	150459941		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150459941G>C	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.15G>C	1.37:g.150459941G>C	ENSP00000358060:p.Gln5His					TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.Q5H|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Missense_Mutation_p.Q5H	p.Q5H	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	22	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		5					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.15G>C	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736900	0.30774	.	.	ENSG00000143374	ENST00000438568;ENST00000369054;ENST00000369064;ENST00000369053	.	.	.	4.94	4.01	0.46588	.	1.095870	0.06893	N	0.804529	T	0.17365	0.0417	L	0.43152	1.355	0.09310	N	1	B;P	0.43169	0.41;0.8	B;B	0.37833	0.06;0.259	T	0.24048	-1.0171	9	0.72032	D	0.01	-1.0879	11.0885	0.48102	0.0:0.1871:0.8129:0.0	.	5;5	Q9H9V2;Q9BW92	.;SYTM_HUMAN	H	5	.	ENSP00000358049:Q5H	Q	+	3	2	TARS2	148726565	0.016000	0.18221	0.068000	0.19968	0.030000	0.12068	0.779000	0.26746	1.285000	0.44548	0.561000	0.74099	CAG		0.552	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1		NM_025150		21	225	0	0	0	0.004656	0	21	225		
TARS2	80222	broad.mit.edu	37	1	150460385	150460385	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150460385G>A	ENST00000369064.3	+	2	152	c.118G>A	c.(118-120)Gag>Aag	p.E40K	TARS2_ENST00000606933.1_Missense_Mutation_p.E40K|TARS2_ENST00000369054.2_Missense_Mutation_p.E40K|TARS2_ENST00000438568.2_Missense_Mutation_p.E40K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	40					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGGCCTTTTTGAGGAGCTGTG	0.507																																						uc001euq.2		NaN																	0				ovary(1)	1						c.(118-120)GAG>AAG		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						63.0	68.0	66.0					1																	150460385		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150460385G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.118G>A	1.37:g.150460385G>A	ENSP00000358060:p.Glu40Lys					TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.E40K|TARS2_uc009wlt.2_5'UTR|TARS2_uc009wls.2_Missense_Mutation_p.E40K	p.E40K	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		2	125	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		40					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.118G>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205313	0.95033	.	.	ENSG00000143374	ENST00000438568;ENST00000369054;ENST00000369064;ENST00000369053	.	.	.	5.21	5.21	0.72293	.	0.120685	0.53938	D	0.000045	T	0.73140	0.3549	M	0.68593	2.085	0.43907	D	0.996541	D;D	0.71674	0.989;0.998	P;D	0.77557	0.828;0.99	T	0.75077	-0.3445	9	0.66056	D	0.02	-0.7692	16.2843	0.82710	0.0:0.0:1.0:0.0	.	40;40	Q9H9V2;Q9BW92	.;SYTM_HUMAN	K	40	.	ENSP00000358049:E40K	E	+	1	0	TARS2	148727009	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.849000	0.48286	2.695000	0.91970	0.561000	0.74099	GAG		0.507	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1		NM_025150		38	263	0	0	0	0.007835	0	38	263		
TARS2	80222	broad.mit.edu	37	1	150463886	150463886	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150463886G>C	ENST00000369064.3	+	5	563	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	TARS2_ENST00000606933.1_Missense_Mutation_p.E177Q|TARS2_ENST00000369054.2_Missense_Mutation_p.E177Q|TARS2_ENST00000438568.2_Missense_Mutation_p.R135T	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	177					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCGGGGCTCAGAGCTGCCTGT	0.552																																						uc001euq.2		NaN																	0				ovary(1)	1						c.(529-531)GAG>CAG		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						95.0	89.0	91.0					1																	150463886		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150463886G>C	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.529G>C	1.37:g.150463886G>C	ENSP00000358060:p.Glu177Gln					TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.E177Q|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.E177Q	p.E177Q	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		5	536	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		177					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.529G>C	CCDS952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.31|15.31	2.794238|2.794238	0.50102|0.50102	.|.	.|.	ENSG00000143374|ENSG00000143374	ENST00000369054;ENST00000369064|ENST00000438568	T;T|.	0.06528|.	3.29;3.29|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);|.	0.699063|.	0.14823|.	N|.	0.296323|.	T|T	0.51295|0.51295	0.1666|0.1666	L|L	0.56124|0.56124	1.755|1.755	0.32960|0.32960	D|D	0.520893|0.520893	P;B|.	0.41366|.	0.747;0.004|.	B;B|.	0.42827|.	0.399;0.005|.	T|T	0.54768|0.54768	-0.8244|-0.8244	10|6	0.35671|0.59425	T|D	0.21|0.04	-15.1586|-15.1586	14.466|14.466	0.67485|0.67485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	177;177|.	Q9H9V2;Q9BW92|.	.;SYTM_HUMAN|.	Q|T	177|135	ENSP00000358050:E177Q;ENSP00000358060:E177Q|.	ENSP00000358050:E177Q|ENSP00000415002:R135T	E|R	+|+	1|2	0|0	TARS2|TARS2	148730510|148730510	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.474000|0.474000	0.32979|0.32979	5.419000|5.419000	0.66435|0.66435	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.552	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1		NM_025150		34	254	0	0	0	0.004289	0	34	254		
ADAMTSL4	54507	broad.mit.edu	37	1	150532263	150532263	+	Silent	SNP	G	G	A	rs368789447		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150532263G>A	ENST00000369038.2	+	16	3171	c.2970G>A	c.(2968-2970)acG>acA	p.T990T	ADAMTSL4_ENST00000271643.4_Silent_p.T990T|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.T1013T			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	990	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGGGGGAACGCAGACACGGG	0.637											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0014	5008	,	,		17067	0.0		0.0	False		,,,				2504	0.0					uc001eux.2		NaN																	0				ovary(1)|skin(1)	2						c.(2968-2970)ACG>ACA		thrombospondin repeat containing 1 isoform 1							94.0	102.0	99.0					1																	150532263		2203	4300	6503	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150532263G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2970G>A	1.37:g.150532263G>A			OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ADAMTSL4_uc009wlw.2_Silent_p.T1013T|ADAMTSL4_uc010pcg.1_Silent_p.T951T|ADAMTSL4_uc009wlx.2_Silent_p.T153T	p.T990T	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		18	3206	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		990			TSP type-1 6.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.2970G>A	CCDS955.1																																																																																				0.637	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4		NM_019032		28	533	0	0	0	0.010818	0	28	533		
PIP5K1A	8394	broad.mit.edu	37	1	151205150	151205150	+	Missense_Mutation	SNP	C	C	G	rs148159537	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:151205150C>G	ENST00000368888.4	+	7	1032	c.610C>G	c.(610-612)Ctg>Gtg	p.L204V	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.L191V|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.L192V|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.L192V|PIP5K1A_ENST00000414290.2_5'Flank	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	204	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCGGAATTTCTGCAGAAGCT	0.498																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(610-612)CTG>GTG		phosphatidylinositol-4-phosphate 5-kinase, type							87.0	83.0	84.0					1																	151205150		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151205150C>G	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.610C>G	1.37:g.151205150C>G	ENSP00000357883:p.Leu204Val					PIP5K1A_uc001exi.2_Missense_Mutation_p.L191V|PIP5K1A_uc010pcu.1_Missense_Mutation_p.L192V|PIP5K1A_uc001exk.2_Missense_Mutation_p.L191V|PIP5K1A_uc010pcv.1_5'Flank	p.L204V	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	1062	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		204			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.610C>G	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858417	0.71834	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.22	3.13	0.36017	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	H	0.94306	3.52	0.80722	D	1	D;D;D;D	0.71674	0.975;0.964;0.998;0.964	D;P;D;P	0.71414	0.953;0.742;0.973;0.797	T	0.70733	-0.4791	10	0.87932	D	0	.	6.712	0.23282	0.0:0.6782:0.0:0.3218	.	192;191;204;191	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	V	191;192;192;191;204	ENSP00000271663:L191V;ENSP00000386432:L192V;ENSP00000415648:L192V;ENSP00000357885:L191V;ENSP00000357883:L204V	ENSP00000271663:L191V	L	+	1	2	PIP5K1A	149471774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.938000	0.40203	1.372000	0.46190	0.479000	0.44913	CTG		0.498	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2		NM_003557		19	152	0	0	0	0.003954	0	19	152		
FLG	2312	broad.mit.edu	37	1	152280743	152280743	+	Missense_Mutation	SNP	C	C	G	rs531670104		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:152280743C>G	ENST00000368799.1	-	3	6654	c.6619G>C	c.(6619-6621)Ggg>Cgg	p.G2207R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2207	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATGCGACCCTGAGTGCCTA	0.572									Ichthyosis				-|||	1	0.000199681	0.0	0.0	5008	,	,		27127	0.001		0.0	False		,,,				2504	0.0					uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6619-6621)GGG>CGG		filaggrin							417.0	367.0	384.0					1																	152280743		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280743C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6619G>C	1.37:g.152280743C>G	ENSP00000357789:p.Gly2207Arg						p.G2207R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6655	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2207			Ser-rich.|Filaggrin 13.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6619G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	2.675	-0.276746	0.05679	.	.	ENSG00000143631	ENST00000368799	T	0.07688	3.17	2.2	1.25	0.21368	.	.	.	.	.	T	0.02342	0.0072	M	0.64404	1.975	0.09310	N	1	B	0.28400	0.21	B	0.28709	0.093	T	0.47249	-0.9132	9	0.12766	T	0.61	.	5.0692	0.14598	0.0:0.8104:0.0:0.1896	.	2207	P20930	FILA_HUMAN	R	2207	ENSP00000357789:G2207R	ENSP00000357789:G2207R	G	-	1	0	FLG	150547367	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.447000	0.06828	0.252000	0.21531	-0.443000	0.05667	GGG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		29	572	0	0	0	0.009535	0	29	572		
FLG	2312	broad.mit.edu	37	1	152286605	152286605	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:152286605C>G	ENST00000368799.1	-	3	792	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	253					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTTTGTTTTCTTCTAATAGA	0.378									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(757-759)GAA>CAA		filaggrin							173.0	179.0	177.0					1																	152286605		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286605C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.757G>C	1.37:g.152286605C>G	ENSP00000357789:p.Glu253Gln					uc001ezv.2_Intron	p.E253Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	793	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		253					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.757G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	3.583	-0.085144	0.07097	.	.	ENSG00000143631	ENST00000368799	T	0.00675	5.88	3.29	-6.59	0.01830	.	.	.	.	.	T	0.00210	0.0006	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	P	0.53518	0.728	T	0.44143	-0.9347	9	0.14656	T	0.56	-2.7927	1.9391	0.03342	0.1344:0.2681:0.1327:0.4648	.	253	P20930	FILA_HUMAN	Q	253	ENSP00000357789:E253Q	ENSP00000357789:E253Q	E	-	1	0	FLG	150553229	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.853000	0.01666	-1.957000	0.01021	-0.683000	0.03753	GAA		0.378	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		68	381	0	0	0	0.01441	0	68	381		
FLG	2312	broad.mit.edu	37	1	152287125	152287125	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:152287125G>A	ENST00000368799.1	-	3	272	c.237C>T	c.(235-237)ttC>ttT	p.F79F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	79	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAACTTGAATACCATCA	0.378									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(235-237)TTC>TTT		filaggrin							119.0	118.0	118.0					1																	152287125		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152287125G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.237C>T	1.37:g.152287125G>A						uc001ezv.2_RNA	p.F79F	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	273	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		79			EF-hand 2.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.237C>T	CCDS30860.1																																																																																				0.378	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		26	174	0	0	0	0.004656	0	26	174		
FCRL2	79368	broad.mit.edu	37	1	157738266	157738266	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:157738266T>A	ENST00000361516.3	-	5	869	c.821A>T	c.(820-822)tAc>tTc	p.Y274F	FCRL2_ENST00000392274.3_Missense_Mutation_p.Y274F|FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	274	Ig-like C2-type 3.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCTCTACAGTAATATTTGCC	0.498																																						uc001fre.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(820-822)TAC>TTC		Fc receptor-like 2 precursor							178.0	178.0	178.0					1																	157738266		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157738266T>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.821A>T	1.37:g.157738266T>A	ENSP00000355157:p.Tyr274Phe					FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.Y274F|FCRL2_uc009wsp.2_Intron	p.Y274F	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	880	-	all_hematologic(112;0.0378)		274			Ig-like C2-type 3.|Extracellular (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.821A>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.823029	0.50739	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.11385	2.78;2.78	3.89	1.41	0.22369	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.094050	0.07165	N	0.851409	T	0.12092	0.0294	M	0.83852	2.665	0.09310	N	1	P;D	0.59357	0.933;0.985	P;D	0.64595	0.838;0.927	T	0.22068	-1.0227	10	0.12430	T	0.62	.	4.5012	0.11865	0.1967:0.0:0.2048:0.5985	.	274;274	B4DVJ9;Q96LA5	.;FCRL2_HUMAN	F	274	ENSP00000355157:Y274F;ENSP00000376100:Y274F	ENSP00000355157:Y274F	Y	-	2	0	FCRL2	156004890	0.031000	0.19500	0.000000	0.03702	0.100000	0.18952	2.102000	0.41796	0.148000	0.19059	0.533000	0.62120	TAC		0.498	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2		NM_030764		14	169	0	0	0	0.00245	0	14	169		
XPR1	9213	broad.mit.edu	37	1	180775611	180775611	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:180775611C>T	ENST00000367590.4	+	6	797	c.599C>T	c.(598-600)gCt>gTt	p.A200V	XPR1_ENST00000367589.3_Splice_Site_p.A200V	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	200					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTTTCTAGGCTGTAGTGACC	0.368																																						uc001goi.2		NaN																	0					0						c.(598-600)GCT>GTT		xenotropic and polytropic retrovirus receptor							112.0	111.0	111.0					1																	180775611		2203	4300	6503	SO:0001630	splice_region_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180775611C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.598-1C>T	1.37:g.180775611C>T						XPR1_uc009wxm.2_Missense_Mutation_p.A200V|XPR1_uc009wxn.2_Missense_Mutation_p.A200V	p.A200V	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			6	791	+			200			Cytoplasmic (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.599C>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062380	0.55432	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.47528	0.84	5.15	5.15	0.70609	.	0.206543	0.52532	D	0.000079	T	0.38639	0.1048	L	0.34521	1.04	0.43099	D	0.994784	B;B	0.12630	0.006;0.004	B;B	0.22880	0.042;0.012	T	0.16958	-1.0385	10	0.30078	T	0.28	-9.4245	14.276	0.66179	0.1495:0.8505:0.0:0.0	.	200;200	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	V	200	ENSP00000356562:A200V	ENSP00000356561:A200V	A	+	2	0	XPR1	179042234	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.926000	0.56491	2.417000	0.82017	0.484000	0.47621	GCT		0.368	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2		NM_004736	Missense_Mutation	22	69	0	0	0	0.005443	0	22	69		
CFHR2	3080	broad.mit.edu	37	1	196920122	196920122	+	Missense_Mutation	SNP	C	C	T	rs111586074		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:196920122C>T	ENST00000367415.5	+	3	494	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000476712.2_Missense_Mutation_p.R116W|CFHR2_ENST00000367421.3_Missense_Mutation_p.R132W	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	132	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.R132W(1)		large_intestine(2)|ovary(1)|skin(3)	6						ATGTGTAGAACGGGGCTGGTC	0.373																																						uc001gtq.1		NaN																	1	Substitution - Missense(1)		skin(1)	skin(2)|ovary(1)	3						c.(394-396)CGG>TGG		H factor (complement)-like 3 precursor							120.0	104.0	109.0					1																	196920122		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196920122C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.394C>T	1.37:g.196920122C>T	ENSP00000356385:p.Arg132Trp					CFHR2_uc001gtr.1_Intron	p.R132W	NM_005666	NP_005657	P36980	FHR2_HUMAN			3	471	+			132			Sushi 2.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.394C>T	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	12.40	1.926115	0.34002	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.65549	-0.16;-0.16	2.55	-4.79	0.03200	Complement control module (2);Sushi/SCR/CCP (3);	2.832870	0.02149	N	0.057824	T	0.70185	0.3195	L	0.53249	1.67	0.09310	N	1	D	0.89917	1.0	D	0.69654	0.965	T	0.65315	-0.6198	10	0.87932	D	0	.	5.0285	0.14398	0.2919:0.1982:0.5099:0.0	.	132	P36980	FHR2_HUMAN	W	132	ENSP00000356391:R132W;ENSP00000356385:R132W	ENSP00000356385:R132W	R	+	1	2	CFHR2	195186745	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.735000	0.00802	-1.252000	0.02491	-0.719000	0.03609	CGG		0.373	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2		NM_005666		57	39	0	0	0	0.01441	0	57	39		
RPS6KC1	26750	broad.mit.edu	37	1	213414318	213414318	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:213414318C>G	ENST00000366960.3	+	11	1649	c.1499C>G	c.(1498-1500)tCt>tGt	p.S500C	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S288C|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S203C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S488C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	500					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGGCCAGATTCTGGTTCAAGT	0.413																																						uc010ptr.1		NaN																	0				lung(4)|ovary(3)|breast(1)	8						c.(1498-1500)TCT>TGT		ribosomal protein S6 kinase, 52kDa, polypeptide							65.0	65.0	65.0					1																	213414318		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414318C>G	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1499C>G	1.37:g.213414318C>G	ENSP00000355927:p.Ser500Cys					RPS6KC1_uc001hkd.2_Missense_Mutation_p.S488C|RPS6KC1_uc010pts.1_Missense_Mutation_p.S288C|RPS6KC1_uc010ptt.1_Missense_Mutation_p.S288C|RPS6KC1_uc010ptu.1_Missense_Mutation_p.S319C|RPS6KC1_uc010ptv.1_Missense_Mutation_p.S35C|RPS6KC1_uc001hke.2_Missense_Mutation_p.S319C	p.S500C	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1658	+			500					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1499C>G	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539749	0.65085	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.62498	0.5;0.7;0.72;0.02	5.59	5.59	0.84812	.	0.118823	0.64402	D	0.000016	T	0.79890	0.4524	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.81241	-0.1022	10	0.87932	D	0	-20.7818	19.5893	0.95501	0.0:1.0:0.0:0.0	.	288;500;488	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	C	288;500;488;203	ENSP00000442306:S288C;ENSP00000355927:S500C;ENSP00000355926:S488C;ENSP00000439282:S203C	ENSP00000355926:S488C	S	+	2	0	RPS6KC1	211480941	1.000000	0.71417	0.280000	0.24747	0.951000	0.60555	7.231000	0.78106	2.631000	0.89168	0.460000	0.39030	TCT		0.413	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3		NM_012424		19	34	0	0	0	0.00278	0	19	34		
CENPF	1063	broad.mit.edu	37	1	214820493	214820493	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:214820493T>C	ENST00000366955.3	+	13	7748	c.7580T>C	c.(7579-7581)cTg>cCg	p.L2527P		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2623	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATCAGTAGACTGAAAAATCAA	0.388																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NaN																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(7579-7581)CTG>CCG		centromere protein F							89.0	94.0	93.0					1																	214820493		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214820493T>C	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7580T>C	1.37:g.214820493T>C	ENSP00000355922:p.Leu2527Pro						p.L2527P	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	7754	+			2623			Potential.|Sufficient for self-association.|Sufficient for centromere localization.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.7580T>C	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577116	0.45902	.	.	ENSG00000117724	ENST00000366955	T	0.03860	3.78	5.34	4.2	0.49525	.	0.000000	0.28388	N	0.015528	T	0.07007	0.0178	M	0.66939	2.045	0.26873	N	0.9677	B	0.33280	0.405	B	0.31191	0.125	T	0.13361	-1.0512	10	0.40728	T	0.16	.	11.0583	0.47931	0.0:0.0771:0.0:0.9229	.	2623	P49454	CENPF_HUMAN	P	2527	ENSP00000355922:L2527P	ENSP00000355922:L2527P	L	+	2	0	CENPF	212887116	0.684000	0.27642	0.023000	0.16930	0.809000	0.45718	3.876000	0.56115	2.158000	0.67659	0.496000	0.49642	CTG		0.388	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343		4	56	0	0	0	0.000602	0	4	56		
EXOC8	149371	broad.mit.edu	37	1	231472540	231472540	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:231472540C>T	ENST00000360394.2	-	1	1038	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.E314K|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	318	Poly-Glu.				cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GCTGGTTCTTCTTCTTCGTCA	0.557																																						uc001huq.2		NaN																	0				skin(1)	1						c.(952-954)GAA>AAA		exocyst complex 84-kDa subunit							138.0	120.0	126.0					1																	231472540		2203	4300	6503	SO:0001583	missense	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231472540C>T	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.952G>A	1.37:g.231472540C>T	ENSP00000353564:p.Glu318Lys						p.E318K	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN			1	1039	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	318			Poly-Glu.		B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	c.952G>A	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174457	0.38413	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.78364	-1.17;-1.17	5.55	4.64	0.57946	.	0.425343	0.24933	N	0.034454	T	0.56645	0.1999	N	0.08118	0	0.47862	D	0.999534	B	0.02656	0.0	B	0.01281	0.0	T	0.52275	-0.8597	10	0.07482	T	0.82	-2.6979	14.0962	0.65023	0.0:0.9266:0.0:0.0734	.	318	Q8IYI6	EXOC8_HUMAN	K	318;314	ENSP00000353564:E318K;ENSP00000355605:E314K	ENSP00000353564:E318K	E	-	1	0	EXOC8	229539163	0.996000	0.38824	0.011000	0.14972	0.830000	0.47004	3.609000	0.54117	1.332000	0.45431	-0.258000	0.10820	GAA		0.557	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_175876		49	68	0	0	0	0.01441	0	49	68		
LYST	1130	broad.mit.edu	37	1	235952011	235952011	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:235952011G>C	ENST00000389794.3	-	13	4852	c.4678C>G	c.(4678-4680)Ctt>Gtt	p.L1560V	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.L1560V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1560					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGAAAGATAAGAGTGGCATTG	0.358																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(4678-4680)CTT>GTT		lysosomal trafficking regulator							90.0	77.0	82.0					1																	235952011		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235952011G>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4678C>G	1.37:g.235952011G>C	ENSP00000374444:p.Leu1560Val					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.L1560V	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		13	4853	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1560					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4678C>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822460	0.32237	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.72167	-0.63;-0.63	5.62	0.786	0.18590	.	0.519759	0.23081	N	0.052148	T	0.56659	0.2000	L	0.46157	1.445	0.80722	D	1	B	0.33103	0.397	B	0.25759	0.063	T	0.51608	-0.8684	10	0.56958	D	0.05	.	8.5244	0.33296	0.7071:0.0:0.2929:0.0	.	1560	Q99698	LYST_HUMAN	V	1560	ENSP00000374444:L1560V;ENSP00000374443:L1560V	ENSP00000374443:L1560V	L	-	1	0	LYST	234018634	0.971000	0.33674	0.909000	0.35828	0.725000	0.41563	1.934000	0.40163	0.087000	0.17167	-0.414000	0.06135	CTT		0.358	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				11	46	0	0	0	0.00499	0	11	46		
FMN2	56776	broad.mit.edu	37	1	240286571	240286571	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:240286571C>T	ENST00000319653.9	+	2	1938	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	570					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCCATGGGTCTTCTCCTTCC	0.502																																						uc010pyd.1		NaN																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1708-1710)CTT>TTT		formin 2							139.0	123.0	128.0					1																	240286571		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240286571C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1708C>T	1.37:g.240286571C>T	ENSP00000318884:p.Leu570Phe					FMN2_uc010pye.1_Missense_Mutation_p.L570F	p.L570F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		2	1933	+	Ovarian(103;0.127)	all_cancers(173;0.013)	570					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1708C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624993	0.28889	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.80909	-1.43;-1.43	5.5	5.5	0.81552	DEP domain (1);	0.099230	0.43919	D	0.000514	D	0.88811	0.6538	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	D	0.88861	0.3326	10	0.62326	D	0.03	.	19.7516	0.96271	0.0:1.0:0.0:0.0	.	570	Q9NZ56	FMN2_HUMAN	F	3;570	ENSP00000409308:L3F;ENSP00000318884:L570F	ENSP00000318884:L570F	L	+	1	0	FMN2	238353194	1.000000	0.71417	0.846000	0.33378	0.224000	0.24922	6.761000	0.74945	2.744000	0.94065	0.591000	0.81541	CTT		0.502	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352		19	81	0	0	0	0.012319	0	19	81		
OR2T4	127074	broad.mit.edu	37	1	248525601	248525601	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:248525601T>C	ENST00000366475.1	+	1	719	c.719T>C	c.(718-720)cTc>cCc	p.L240P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCATGCTCCTCATCCCTGTG	0.483																																						uc001ieh.1		NaN																	0				central_nervous_system(1)	1						c.(718-720)CTC>CCC		olfactory receptor, family 2, subfamily T,							159.0	151.0	154.0					1																	248525601		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525601T>C	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.719T>C	1.37:g.248525601T>C	ENSP00000355431:p.Leu240Pro						p.L240P	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	719	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		240			Helical; Name=5; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.719T>C	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.722620	0.30503	.	.	ENSG00000196944	ENST00000366475	T	0.45276	0.9	3.09	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000848	T	0.60971	0.2310	M	0.81179	2.53	0.24283	N	0.995196	D	0.89917	1.0	D	0.83275	0.996	T	0.48502	-0.9030	10	0.87932	D	0	.	8.8978	0.35476	0.0:0.0:0.1879:0.8121	.	240	Q8NH00	OR2T4_HUMAN	P	240	ENSP00000355431:L240P	ENSP00000355431:L240P	L	+	2	0	OR2T4	246592224	0.000000	0.05858	0.543000	0.28128	0.332000	0.28634	0.417000	0.21214	1.264000	0.44198	0.477000	0.44152	CTC		0.483	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2		NM_001004696		14	203	0	0	0	0.006122	0	14	203		
GTPBP4	23560	broad.mit.edu	37	10	1042070	1042070	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:1042070G>C	ENST00000360803.4	+	4	430	c.348G>C	c.(346-348)ctG>ctC	p.L116L	GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000545048.1_Silent_p.L69L|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	116					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		ATGTGCGACTGATGAAGTATG	0.413																																						uc001ift.2		NaN																	0				ovary(1)|skin(1)	2						c.(346-348)CTG>CTC		G protein-binding protein CRFG							57.0	46.0	49.0					10																	1042070		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1042070G>C	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.348G>C	10.37:g.1042070G>C						GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_5'UTR|GTPBP4_uc010qae.1_Silent_p.L69L	p.L116L	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	4	419	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	116					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.348G>C	CCDS31132.1																																																																																				0.413	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1		NM_012341		3	12	0	0	0	0.004672	0	3	12		
TET1	80312	broad.mit.edu	37	10	70404903	70404903	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:70404903C>T	ENST00000373644.4	+	4	2626	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	806					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCTATGAGCTCTGTTGCTACT	0.358																																						uc001jok.3		NaN																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(2416-2418)TCT>TTT		CXXC finger 6							114.0	112.0	113.0					10																	70404903		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70404903C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2417C>T	10.37:g.70404903C>T	ENSP00000362748:p.Ser806Phe						p.S806F	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	2922	+			806					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.2417C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480069	0.26598	.	.	ENSG00000138336	ENST00000373644	T	0.08282	3.11	5.92	4.07	0.47477	.	1.680570	0.02765	N	0.119021	T	0.10723	0.0262	N	0.24115	0.695	0.19775	N	0.999954	P	0.45283	0.855	P	0.44732	0.459	T	0.35847	-0.9772	10	0.51188	T	0.08	.	9.523	0.39147	0.1422:0.7868:0.0:0.0709	.	806	Q8NFU7	TET1_HUMAN	F	806	ENSP00000362748:S806F	ENSP00000362748:S806F	S	+	2	0	TET1	70074909	0.586000	0.26782	0.170000	0.22879	0.335000	0.28730	1.780000	0.38634	0.839000	0.34971	0.650000	0.86243	TCT		0.358	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1		NM_030625		29	79	0	0	0	0.003755	0	29	79		
KCNMA1	3778	broad.mit.edu	37	10	78669798	78669798	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:78669798C>G	ENST00000286628.8	-	25	3072	c.3073G>C	c.(3073-3075)Gaa>Caa	p.E1025Q	KCNMA1_ENST00000372443.1_Missense_Mutation_p.E994Q|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.E1008Q|KCNMA1_ENST00000286627.5_Missense_Mutation_p.E967Q|KCNMA1_ENST00000404771.3_Missense_Mutation_p.E1025Q|KCNMA1_ENST00000406533.3_Missense_Mutation_p.E1029Q|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.E1028Q|KCNMA1_ENST00000372440.1_Missense_Mutation_p.E967Q|RP11-443A13.5_ENST00000426234.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1025					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AGGTACAGTTCTGTATCAGGG	0.473																																						uc001jxn.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(3073-3075)GAA>CAA		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						169.0	125.0	140.0					10																	78669798		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78669798C>G	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3073G>C	10.37:g.78669798C>G	ENSP00000286628:p.Glu1025Gln					KCNMA1_uc001jxj.2_Missense_Mutation_p.E971Q|KCNMA1_uc001jxk.1_Missense_Mutation_p.E643Q|KCNMA1_uc009xrt.1_Missense_Mutation_p.E816Q|KCNMA1_uc001jxl.1_Missense_Mutation_p.E650Q|KCNMA1_uc001jxo.2_Missense_Mutation_p.E1008Q|KCNMA1_uc001jxm.2_Missense_Mutation_p.E967Q|KCNMA1_uc001jxq.2_Missense_Mutation_p.E997Q	p.E1025Q	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		25	3250	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1025			Calcium bowl.|Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3073G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	28.8|28.8|28.8	4.952833|4.952833|4.952833	0.92660|0.92660|0.92660	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403|ENST00000372421;ENST00000434208	T;T;T;T;T;T;T;T;T|.|.	0.55930|.|.	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49|.|.	5.97|5.97|5.97	5.97|5.97|5.97	0.96955|0.96955|0.96955	Potassium channel, calcium-activated, BK, alpha subunit (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.76026|0.76026|0.76026	0.3930|0.3930|0.3930	M|M|M	0.65975|0.65975|0.65975	2.015|2.015|2.015	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;P;D;P|.|.	0.89917|.|.	0.999;0.978;0.987;1.0;0.998;0.955;0.994;0.955|.|.	D;P;D;D;D;P;D;P|.|.	0.91635|.|.	0.996;0.823;0.914;0.999;0.964;0.823;0.914;0.771|.|.	T|T|T	0.72040|0.72040|0.72040	-0.4410|-0.4410|-0.4410	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	-13.6099|-13.6099|-13.6099	20.428|20.428|20.428	0.99075|0.99075|0.99075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	996;997;1008;1025;967;778;1028;994|.|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.|.	Q|H|T	967;904;960;999;962;994;967;999;1029;1028;1008;778|917|955;674	ENSP00000361517:E967Q;ENSP00000361485:E904Q;ENSP00000361514:E960Q;ENSP00000396608:E999Q;ENSP00000361520:E994Q;ENSP00000286627:E967Q;ENSP00000385552:E1029Q;ENSP00000346321:E1028Q;ENSP00000385806:E1008Q|.|.	ENSP00000286627:E967Q|.|.	E|Q|R	-|-|-	1|3|2	0|2|0	KCNMA1|KCNMA1|KCNMA1	78339804|78339804|78339804	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.825000|0.825000|0.825000	0.46686|0.46686|0.46686	7.818000|7.818000|7.818000	0.86416|0.86416|0.86416	2.837000|2.837000|2.837000	0.97791|0.97791|0.97791	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|CAG|AGA		0.473	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3		NM_002247		29	17	0	0	0	0.003271	0	29	17		
DLG5	9231	broad.mit.edu	37	10	79565534	79565534	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:79565534G>A	ENST00000372391.2	-	27	5058	c.5053C>T	c.(5053-5055)Cgc>Tgc	p.R1685C	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.R1345C	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1685					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AAGGACCGGCGTGCAGCCGCT	0.552																																						uc001jzk.2		NaN																	0				ovary(5)|breast(3)	8						c.(5053-5055)CGC>TGC		discs large homolog 5							123.0	107.0	113.0					10																	79565534		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79565534G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5053C>T	10.37:g.79565534G>A	ENSP00000361467:p.Arg1685Cys					DLG5_uc001jzi.2_Missense_Mutation_p.R440C|DLG5_uc001jzj.2_Missense_Mutation_p.R1100C|DLG5_uc009xru.1_RNA	p.R1685C	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		27	5123	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1685					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.5053C>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594807	0.66219	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.08634	3.27;3.07;3.29	5.74	4.84	0.62591	Src homology-3 domain (1);	0.212212	0.24078	N	0.041744	T	0.30854	0.0778	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.06552	-1.0820	10	0.87932	D	0	.	9.0853	0.36577	0.0679:0.0:0.6783:0.2539	.	1685;1345	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	C	1685;646;1345	ENSP00000361467:R1685C;ENSP00000394797:R646C;ENSP00000361464:R1345C	ENSP00000361464:R1345C	R	-	1	0	DLG5	79235540	1.000000	0.71417	0.933000	0.37362	0.494000	0.33585	6.091000	0.71406	1.576000	0.49790	0.563000	0.77884	CGC		0.552	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2				83	37	0	0	0	0.01441	0	83	37		
OR52E8	390079	broad.mit.edu	37	11	5878060	5878060	+	Silent	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:5878060G>T	ENST00000537935.1	-	1	904	c.873C>A	c.(871-873)gcC>gcA	p.A291A	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGATTGAGGGCTGGTGGGA	0.423																																						uc010qzr.1		NaN																	0				skin(2)	2						c.(871-873)GCC>GCA		olfactory receptor, family 52, subfamily E,							100.0	118.0	112.0					11																	5878060		2144	4296	6440	SO:0001819	synonymous_variant	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878060G>T	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.873C>A	11.37:g.5878060G>T						TRIM5_uc001mbq.1_Intron	p.A291A	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	873	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	291			Helical; Name=7; (Potential).		B9EH38	Silent	SNP	ENST00000537935.1	37	c.873C>A	CCDS31400.1																																																																																				0.423	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1		NM_001005168		85	145	1	0	2.02624e-56	0.01441	2.25348e-56	85	145		
NLRP14	338323	broad.mit.edu	37	11	7064578	7064578	+	Missense_Mutation	SNP	G	G	A	rs147389856	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:7064578G>A	ENST00000299481.4	+	4	1667	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	441	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		V -> M (in dbSNP:rs147389856). {ECO:0000269|PubMed:16931801}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATGACTTACGTGTTTTACAG	0.438													G|||	23	0.00459265	0.0174	0.0	5008	,	,		21075	0.0		0.0	False		,,,				2504	0.0					uc001mfb.1		NaN																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1321-1323)GTG>ATG		NLR family, pyrin domain containing 14		G	MET/VAL	71,4331	65.3+/-102.7	2,67,2132	132.0	135.0	134.0		1321	3.5	0.8	11	dbSNP_134	134	1,8591		0,1,4295	yes	missense	NLRP14	NM_176822.3	21	2,68,6427	AA,AG,GG		0.0116,1.6129,0.5541	probably-damaging	441/1094	7064578	72,12922	2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064578G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1321G>A	11.37:g.7064578G>A	ENSP00000299481:p.Val441Met						p.V441M	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1644	+			441		V -> M.	NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1321G>A	CCDS7776.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	12.06	1.824252	0.32237	0.016129	1.16E-4	ENSG00000158077	ENST00000299481	D	0.85484	-1.99	4.48	3.5	0.40072	.	0.000000	0.45361	D	0.000377	T	0.80747	0.4682	L	0.56124	1.755	0.34059	D	0.657105	D	0.71674	0.998	P	0.61397	0.888	D	0.88031	0.2775	10	0.72032	D	0.01	.	12.4438	0.55639	0.0:0.1709:0.8291:0.0	.	441	Q86W24	NAL14_HUMAN	M	441	ENSP00000299481:V441M	ENSP00000299481:V441M	V	+	1	0	NLRP14	7021154	0.958000	0.32768	0.797000	0.32132	0.205000	0.24178	1.517000	0.35867	2.511000	0.84671	0.655000	0.94253	GTG		0.438	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1		NM_176822		63	91	0	0	0	0.01441	0	63	91		
NAV2	89797	broad.mit.edu	37	11	19735319	19735319	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:19735319C>T	ENST00000396087.3	+	1	177	c.78C>T	c.(76-78)caC>caT	p.H26H	NAV2_ENST00000396085.1_Silent_p.H26H|RP11-359E10.1_ENST00000603468.1_lincRNA|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Silent_p.H26H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	26					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCATCCTGCACGTgcccccgg	0.652																																						uc010rdm.1		NaN																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(76-78)CAC>CAT		neuron navigator 2 isoform 2							21.0	23.0	22.0					11																	19735319		2197	4290	6487	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19735319C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.78C>T	11.37:g.19735319C>T						NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Silent_p.H26H|LOC100126784_uc010rdl.1_3'UTR	p.H26H	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			1	439	+			26					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.78C>T	CCDS58126.1																																																																																				0.652	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1		NM_145117		20	16	0	0	0	0.003954	0	20	16		
ZFP91	80829	broad.mit.edu	37	11	58379117	58379117	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:58379117G>C	ENST00000316059.6	+	6	934	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	AP001350.1_ENST00000601906.1_5'Flank|ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E255Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	255	Glu-rich.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				gaaggtaaaagaagagaagga	0.403																																						uc001nmx.3		NaN																	0				ovary(1)	1						c.(763-765)GAA>CAA		zinc finger protein 91							91.0	90.0	90.0					11																	58379117		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58379117G>C	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.763G>C	11.37:g.58379117G>C	ENSP00000339030:p.Glu255Gln					ZFP91_uc001nmy.3_Missense_Mutation_p.E254Q|ZFP91-CNTF_uc010rkm.1_RNA	p.E255Q	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			6	931	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	255			Glu-rich.		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.763G>C	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155583	0.57259	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.11712	2.75	5.17	5.17	0.71159	.	.	.	.	.	T	0.09905	0.0243	N	0.19112	0.55	0.40653	D	0.982059	P;P	0.46912	0.886;0.818	B;B	0.44085	0.44;0.255	T	0.23726	-1.0180	9	0.32370	T	0.25	-10.6045	15.7099	0.77620	0.0:0.0:1.0:0.0	.	255;255	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	Q	255	ENSP00000339030:E255Q	ENSP00000374569:E255Q	E	+	1	0	ZFP91	58135693	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.979000	0.63806	2.683000	0.91414	0.650000	0.86243	GAA		0.403	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1		NM_053023		15	18	0	0	0	0.003163	0	15	18		
STX3	6809	broad.mit.edu	37	11	59540702	59540702	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:59540702G>A	ENST00000337979.4	+	2	596	c.49G>A	c.(49-51)Gat>Aat	p.D17N	STX3_ENST00000437946.2_De_novo_Start_OutOfFrame|STX3_ENST00000535361.1_Missense_Mutation_p.D17N|STX3_ENST00000300150.7_De_novo_Start_OutOfFrame|STX3_ENST00000529177.1_Missense_Mutation_p.D17N	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	17					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GACACAGGATGATGATACTGA	0.398																																						uc001nog.2		NaN																	0				ovary(2)	2						c.(49-51)GAT>AAT		syntaxin 3							211.0	197.0	202.0					11																	59540702		2201	4295	6496	SO:0001583	missense	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59540702G>A	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.49G>A	11.37:g.59540702G>A	ENSP00000338562:p.Asp17Asn					STX3_uc010rkx.1_Missense_Mutation_p.D17N|STX3_uc010rky.1_5'UTR	p.D17N	NM_004177	NP_004168	Q13277	STX3_HUMAN			2	239	+			17			Cytoplasmic (Potential).		B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	c.49G>A	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245194	0.59103	.	.	ENSG00000166900	ENST00000337979;ENST00000535361;ENST00000529177	T;T;T	0.40225	1.57;1.42;1.04	5.21	5.21	0.72293	.	0.241883	0.39475	N	0.001353	T	0.28300	0.0699	N	0.14661	0.345	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.05131	-1.0904	10	0.44086	T	0.13	-12.9544	14.119	0.65175	0.0:0.0:1.0:0.0	.	17;17	B4DME0;Q13277	.;STX3_HUMAN	N	17	ENSP00000338562:D17N;ENSP00000441649:D17N;ENSP00000433248:D17N	ENSP00000338562:D17N	D	+	1	0	STX3	59297278	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	2.744000	0.47450	2.708000	0.92522	0.591000	0.81541	GAT		0.398	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1		NM_004177		72	168	0	0	0	0.01441	0	72	168		
STX3	6809	broad.mit.edu	37	11	59540705	59540705	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:59540705G>A	ENST00000337979.4	+	2	599	c.52G>A	c.(52-54)Gat>Aat	p.D18N	STX3_ENST00000437946.2_5'UTR|STX3_ENST00000535361.1_Missense_Mutation_p.D18N|STX3_ENST00000300150.7_5'UTR|STX3_ENST00000529177.1_Missense_Mutation_p.D18N	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	18					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ACAGGATGATGATACTGATGC	0.393																																						uc001nog.2		NaN																	0				ovary(2)	2						c.(52-54)GAT>AAT		syntaxin 3							213.0	199.0	204.0					11																	59540705		2201	4295	6496	SO:0001583	missense	6809				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	g.chr11:59540705G>A	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.52G>A	11.37:g.59540705G>A	ENSP00000338562:p.Asp18Asn					STX3_uc010rkx.1_Missense_Mutation_p.D18N|STX3_uc010rky.1_5'UTR	p.D18N	NM_004177	NP_004168	Q13277	STX3_HUMAN			2	242	+			18			Cytoplasmic (Potential).		B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	c.52G>A	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401953	0.42613	.	.	ENSG00000166900	ENST00000337979;ENST00000535361;ENST00000529177	T;T;T	0.40225	1.56;1.4;1.04	5.21	5.21	0.72293	.	0.187977	0.44097	D	0.000486	T	0.29817	0.0745	N	0.08118	0	0.80722	D	1	B;P	0.34892	0.262;0.474	B;B	0.40199	0.224;0.322	T	0.28202	-1.0051	10	0.66056	D	0.02	-21.8781	14.119	0.65175	0.0:0.0:1.0:0.0	.	18;18	B4DME0;Q13277	.;STX3_HUMAN	N	18	ENSP00000338562:D18N;ENSP00000441649:D18N;ENSP00000433248:D18N	ENSP00000338562:D18N	D	+	1	0	STX3	59297281	0.992000	0.36948	0.913000	0.36048	0.869000	0.49853	5.417000	0.66423	2.708000	0.92522	0.591000	0.81541	GAT		0.393	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1		NM_004177		73	171	0	0	0	0.01441	0	73	171		
RCE1	9986	broad.mit.edu	37	11	66611253	66611253	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:66611253G>A	ENST00000309657.3	+	2	253	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	RCE1_ENST00000525356.1_5'UTR|RCE1_ENST00000524506.1_Missense_Mutation_p.R70Q	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	70					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTCATCAAGCGACGCTTCACC	0.672																																						uc001ojk.1		NaN																	0				ovary(1)|breast(1)	2						c.(208-210)CGA>CAA		prenyl protein peptidase RCE1 isoform 1							48.0	39.0	42.0					11																	66611253		2200	4295	6495	SO:0001583	missense	9986				proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	g.chr11:66611253G>A	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.209G>A	11.37:g.66611253G>A	ENSP00000309163:p.Arg70Gln					RCE1_uc001ojl.1_5'UTR	p.R70Q	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN			2	253	+			70					Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	c.209G>A	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012951	0.93346	.	.	ENSG00000173653	ENST00000309657;ENST00000524506	.	.	.	5.0	5.0	0.66597	.	0.190218	0.32703	N	0.005742	T	0.44222	0.1283	L	0.33189	0.99	0.80722	D	1	B	0.21147	0.052	B	0.10450	0.005	T	0.39440	-0.9614	9	0.45353	T	0.12	-16.629	9.4342	0.38628	0.0972:0.0:0.9028:0.0	.	70	Q9Y256	FACE2_HUMAN	Q	70	.	ENSP00000309163:R70Q	R	+	2	0	RCE1	66367829	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.142000	0.77339	2.307000	0.77673	0.555000	0.69702	CGA		0.672	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1		NM_005133		18	40	0	0	0	0.008871	0	18	40		
GRM5	2915	broad.mit.edu	37	11	88323888	88323888	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:88323888C>T	ENST00000305447.4	-	6	1720	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	GRM5_ENST00000418177.2_Missense_Mutation_p.R524Q|GRM5_ENST00000393297.1_Missense_Mutation_p.R524Q|GRM5_ENST00000305432.5_Missense_Mutation_p.R524Q|GRM5_ENST00000455756.2_Missense_Mutation_p.R524Q	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	524					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TTCTCCCTTTCGGATCACCTA	0.388																																						uc001pcq.2		NaN																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1570-1572)CGA>CAA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						112.0	96.0	101.0					11																	88323888		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88323888C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1571G>A	11.37:g.88323888C>T	ENSP00000306138:p.Arg524Gln					GRM5_uc009yvm.2_Missense_Mutation_p.R524Q	p.R524Q	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			6	1771	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	524			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1571G>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207576	0.39003	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.06	4.14	0.48551	GPCR, family 3, nine cysteines domain (1);	0.067895	0.64402	D	0.000003	D	0.87022	0.6074	L	0.28400	0.85	0.43149	D	0.994913	D;D	0.63046	0.992;0.974	P;P	0.51701	0.677;0.673	D	0.85585	0.1242	9	.	.	.	.	15.3997	0.74830	0.0:0.86:0.14:0.0	.	524;524	P41594-2;P41594	.;GRM5_HUMAN	Q	524	ENSP00000402912:R524Q;ENSP00000405690:R524Q;ENSP00000305905:R524Q;ENSP00000306138:R524Q;ENSP00000376975:R524Q	.	R	-	2	0	GRM5	87963536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.458000	0.80787	1.113000	0.41760	0.655000	0.94253	CGA		0.388	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1		NM_000842		28	69	0	0	0	0.003271	0	28	69		
EXPH5	23086	broad.mit.edu	37	11	108381102	108381102	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:108381102G>A	ENST00000265843.4	-	6	5242	c.5132C>T	c.(5131-5133)tCa>tTa	p.S1711L	EXPH5_ENST00000428840.1_Missense_Mutation_p.S1635L|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1704L|EXPH5_ENST00000443411.1_Missense_Mutation_p.S1523L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1711					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCATGCTTTGATGGTGATTC	0.443																																						uc001pkk.2		NaN																	0				skin(3)|ovary(2)	5						c.(5131-5133)TCA>TTA		exophilin 5 isoform a							152.0	151.0	151.0					11																	108381102		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381102G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5132C>T	11.37:g.108381102G>A	ENSP00000265843:p.Ser1711Leu					EXPH5_uc010rvy.1_Missense_Mutation_p.S1523L|EXPH5_uc010rvz.1_Missense_Mutation_p.S1555L|EXPH5_uc010rwa.1_Missense_Mutation_p.S1635L	p.S1711L	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5243	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1711					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5132C>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	8.461	0.855385	0.17106	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.02974	4.31;4.24;4.09;4.31;4.16	6.03	3.12	0.35913	.	0.543469	0.18155	N	0.149969	T	0.02342	0.0072	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.43065	-0.9414	10	0.41790	T	0.15	-0.0651	4.5353	0.12026	0.1337:0.1205:0.6211:0.1246	.	1711	Q8NEV8	EXPH5_HUMAN	L	1711;1635;1523;1704;1635	ENSP00000265843:S1711L;ENSP00000391966:S1635L;ENSP00000411390:S1523L;ENSP00000432546:S1704L;ENSP00000432683:S1635L	ENSP00000265843:S1711L	S	-	2	0	EXPH5	107886312	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.939000	0.28978	0.871000	0.35750	0.655000	0.94253	TCA		0.443	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065		38	94	0	0	0	0.004878	0	38	94		
CACNA1C	775	broad.mit.edu	37	12	2760832	2760832	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:2760832C>T	ENST00000347598.4	+	34	4116	c.4116C>T	c.(4114-4116)tcC>tcT	p.S1372S	CACNA1C_ENST00000399591.1_Silent_p.S1313S|CACNA1C_ENST00000399595.1_Silent_p.S1313S|CACNA1C_ENST00000399644.1_Silent_p.S1324S|CACNA1C_ENST00000406454.3_Silent_p.S1324S|CACNA1C_ENST00000399606.1_Silent_p.S1344S|CACNA1C_ENST00000399601.1_Silent_p.S1324S|CACNA1C_ENST00000399597.1_Silent_p.S1324S|CACNA1C_ENST00000399655.1_Silent_p.S1324S|CACNA1C_ENST00000327702.7_Silent_p.S1324S|CACNA1C_ENST00000399634.1_Silent_p.S1324S|CACNA1C_ENST00000399641.1_Silent_p.S1324S|CACNA1C_ENST00000399629.1_Silent_p.S1341S|CACNA1C_ENST00000399617.1_Silent_p.S1324S|CACNA1C_ENST00000399649.1_Silent_p.S1311S|CACNA1C_ENST00000335762.5_Silent_p.S1349S|CACNA1C_ENST00000344100.3_Silent_p.S1346S|CACNA1C_ENST00000399638.1_Silent_p.S1352S|CACNA1C_ENST00000399637.1_Silent_p.S1324S|CACNA1C_ENST00000402845.3_Silent_p.S1324S|CACNA1C_ENST00000399603.1_Silent_p.S1324S|CACNA1C_ENST00000399621.1_Silent_p.S1324S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1372					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCGCATCTCCATCACCTTCT	0.612																																						uc009zdu.1		NaN																	0				ovary(10)|central_nervous_system(1)	11						c.(4114-4116)TCC>TCT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						93.0	105.0	101.0					12																	2760832		2199	4300	6499	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2760832C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4116C>T	12.37:g.2760832C>T						CACNA1C_uc009zdv.1_Silent_p.S1321S|CACNA1C_uc001qkb.2_Silent_p.S1324S|CACNA1C_uc001qkc.2_Silent_p.S1324S|CACNA1C_uc001qke.2_Silent_p.S1313S|CACNA1C_uc001qkf.2_Silent_p.S1313S|CACNA1C_uc001qjz.2_Silent_p.S1324S|CACNA1C_uc001qkd.2_Silent_p.S1324S|CACNA1C_uc001qkg.2_Silent_p.S1311S|CACNA1C_uc009zdw.1_Silent_p.S1346S|CACNA1C_uc001qkh.2_Silent_p.S1313S|CACNA1C_uc001qkl.2_Silent_p.S1372S|CACNA1C_uc001qkn.2_Silent_p.S1324S|CACNA1C_uc001qko.2_Silent_p.S1344S|CACNA1C_uc001qkp.2_Silent_p.S1324S|CACNA1C_uc001qkr.2_Silent_p.S1341S|CACNA1C_uc001qku.2_Silent_p.S1324S|CACNA1C_uc001qkq.2_Silent_p.S1352S|CACNA1C_uc001qks.2_Silent_p.S1324S|CACNA1C_uc001qkt.2_Silent_p.S1324S|CACNA1C_uc001qki.1_Silent_p.S1060S|CACNA1C_uc001qkj.1_Silent_p.S1060S|CACNA1C_uc001qkk.1_Silent_p.S1060S|CACNA1C_uc001qkm.1_Silent_p.S1049S|CACNA1C_uc010sea.1_Silent_p.S15S	p.S1372S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	34	4429	+			1372			Extracellular (Potential).|IV.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.4116C>T	CCDS44788.1																																																																																				0.612	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719		28	136	0	0	0	0.013726	0	28	136		
ACSM4	341392	broad.mit.edu	37	12	7459281	7459281	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:7459281C>T	ENST00000399422.4	+	2	402	c.354C>T	c.(352-354)gcC>gcT	p.A118A		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	118					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACCGTTTGGCCGTGATTCTGC	0.512													C|||	2	0.000399361	0.0015	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					uc001qsx.1		NaN																	0					0						c.(352-354)GCC>GCT		acyl-CoA synthetase medium-chain family member 4							75.0	84.0	81.0					12																	7459281		2086	4248	6334	SO:0001819	synonymous_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7459281C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.354C>T	12.37:g.7459281C>T							p.A118A	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			2	354	+			118					A8MTI6	Silent	SNP	ENST00000399422.4	37	c.354C>T	CCDS44825.1																																																																																				0.512	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2		NM_001080454		25	11	0	0	0	0.012213	0	25	11		
CLEC4E	26253	broad.mit.edu	37	12	8691854	8691854	+	Missense_Mutation	SNP	G	G	A	rs137962363		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:8691854G>A	ENST00000299663.3	-	3	344	c.179C>T	c.(178-180)cCt>cTt	p.P60L	CLEC4E_ENST00000446457.2_Missense_Mutation_p.P60L|CLEC4E_ENST00000545274.1_Missense_Mutation_p.P60L	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	60					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAAATTCTCAGGTAGCTGAAA	0.358																																						uc001quo.1		NaN																	0				central_nervous_system(1)	1						c.(178-180)CCT>CTT		C-type lectin domain family 4, member E							137.0	141.0	139.0					12																	8691854		2203	4300	6503	SO:0001583	missense	26253					integral to membrane	sugar binding	g.chr12:8691854G>A	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.179C>T	12.37:g.8691854G>A	ENSP00000299663:p.Pro60Leu						p.P60L	NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN			3	344	-	Lung SC(5;0.184)		60			Extracellular (Potential).		B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	c.179C>T	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	G	6.388	0.439684	0.12104	.	.	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	T;T	0.38240	2.5;1.15	3.92	-7.41	0.01392	C-type lectin-like (1);	2.348540	0.01348	N	0.011819	T	0.28333	0.0700	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11518	-1.0584	10	0.28530	T	0.3	.	6.7684	0.23581	0.1179:0.0811:0.6061:0.1949	.	60	Q9ULY5	CLC4E_HUMAN	L	60	ENSP00000299663:P60L;ENSP00000443034:P60L	ENSP00000299663:P60L	P	-	2	0	CLEC4E	8583121	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.301000	0.02749	-1.495000	0.01831	-2.878000	0.00098	CCT		0.358	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1		NM_014358		10	230	0	0	0	0.008291	0	10	230		
PLCZ1	89869	broad.mit.edu	37	12	18854476	18854476	+	Missense_Mutation	SNP	C	C	T	rs528644759	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:18854476C>T	ENST00000538330.1	-	5	703	c.322G>A	c.(322-324)Gta>Ata	p.V108I	PLCZ1_ENST00000447925.2_Missense_Mutation_p.V324I|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.V133I|PLCZ1_ENST00000435379.1_Missense_Mutation_p.V131I|PLCZ1_ENST00000541695.1_Missense_Mutation_p.V189I|PLCZ1_ENST00000266505.7_Missense_Mutation_p.V326I					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AACTTTTTTACCCCTGTTTCC	0.383													C|||	2	0.000399361	0.0	0.0	5008	,	,		10985	0.0		0.0	False		,,,				2504	0.002					uc010sid.1		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(976-978)GTA>ATA		phospholipase C, zeta 1							137.0	140.0	139.0					12																	18854476		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18854476C>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.322G>A	12.37:g.18854476C>T	ENSP00000445880:p.Val108Ile					PLCZ1_uc001rdv.3_Missense_Mutation_p.V222I|PLCZ1_uc001rdw.3_Missense_Mutation_p.V67I|PLCZ1_uc001rdu.1_Missense_Mutation_p.V108I|PLCZ1_uc009zil.1_RNA	p.V326I	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			9	1167	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		326						Missense_Mutation	SNP	ENST00000538330.1	37	c.976G>A		.	.	.	.	.	.	.	.	.	.	C	11.00	1.509693	0.27036	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242;ENST00000539072	T;T;T;T;T;T;T;T;T	0.72942	2.89;0.67;0.67;-0.01;0.67;-0.01;-0.01;0.67;-0.7	5.21	-10.4	0.00318	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	8.864100	0.00166	N	0.000000	T	0.46737	0.1408	N	0.22421	0.69	0.09310	N	1	B;B	0.20164	0.014;0.042	B;B	0.16289	0.01;0.015	T	0.36089	-0.9762	10	0.42905	T	0.14	.	0.636	0.00802	0.2218:0.1687:0.2075:0.402	.	326;108	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	I	108;326;324;131;189;133;61;67;153	ENSP00000445880:V108I;ENSP00000266505:V326I;ENSP00000402358:V324I;ENSP00000400504:V131I;ENSP00000443349:V189I;ENSP00000445026:V133I;ENSP00000445889:V61I;ENSP00000443762:V67I;ENSP00000438629:V153I	ENSP00000266505:V326I	V	-	1	0	PLCZ1	18745743	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.096000	0.01349	-2.637000	0.00431	-0.262000	0.10625	GTA		0.383	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3		NM_033123		46	32	0	0	0	0.01441	0	46	32		
PRKAG1	5571	broad.mit.edu	37	12	49406886	49406886	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:49406886G>C	ENST00000548065.1	-	2	473	c.17C>G	c.(16-18)tCt>tGt	p.S6C	PRKAG1_ENST00000395170.3_5'UTR|PRKAG1_ENST00000547306.1_5'UTR|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000552212.1_5'UTR|PRKAG1_ENST00000316299.5_Missense_Mutation_p.S6C|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	6					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	GCTATCTGAAGAAATGACCTG	0.423																																						uc001rsy.2		NaN																	0				kidney(1)	1						c.(16-18)TCT>TGT		AMP-activated protein kinase, noncatalytic							114.0	107.0	109.0					12																	49406886		2203	4300	6503	SO:0001583	missense	5571				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	g.chr12:49406886G>C	U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.17C>G	12.37:g.49406886G>C	ENSP00000447433:p.Ser6Cys					uc001rsw.2_Intron|PRKAG1_uc010smd.1_5'UTR|PRKAG1_uc001rsx.2_5'UTR|PRKAG1_uc001rsz.2_Missense_Mutation_p.S6C|PRKAG1_uc009zlb.2_5'UTR|PRKAG1_uc010sme.1_Missense_Mutation_p.S6C	p.S6C	NM_002733	NP_002724	P54619	AAKG1_HUMAN			2	86	-			6					B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	c.17C>G	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921162	0.33908	.	.	ENSG00000181929	ENST00000316299;ENST00000548065;ENST00000547125	D;D	0.85484	-1.97;-1.99	3.57	2.67	0.31697	.	0.810801	0.11518	N	0.556055	T	0.64702	0.2622	N	0.08118	0	0.80722	D	1	B;B;P	0.46064	0.138;0.07;0.872	B;B;B	0.30251	0.036;0.058;0.113	T	0.63849	-0.6544	10	0.54805	T	0.06	-3.0229	8.4824	0.33052	0.0:0.0:0.7694:0.2306	.	6;6;6	B4E094;Q8N7V9;P54619	.;.;AAKG1_HUMAN	C	6;6;11	ENSP00000323867:S6C;ENSP00000447433:S6C	ENSP00000323867:S6C	S	-	2	0	PRKAG1	47693153	1.000000	0.71417	0.980000	0.43619	0.831000	0.47069	2.345000	0.44018	1.076000	0.40961	0.650000	0.86243	TCT		0.423	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1		NM_002733		38	23	0	0	0	0.009718	0	38	23		
KMT2D	8085	broad.mit.edu	37	12	49443634	49443634	+	Missense_Mutation	SNP	G	G	A	rs112921115	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:49443634G>A	ENST00000301067.7	-	11	3736	c.3737C>T	c.(3736-3738)aCg>aTg	p.T1246M		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1246					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T973M(1)|p.T1246M(1)									ACTAACATCCGTAGAGACCCC	0.602																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		endometrium(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3736-3738)ACG>ATG		myeloid/lymphoid or mixed-lineage leukemia 2		G	MET/THR	0,3838		0,0,1919	79.0	82.0	81.0		3737	5.8	1.0	12	dbSNP_132	81	16,8242		0,16,4113	yes	missense	MLL2	NM_003482.3	81	0,16,6032	AA,AG,GG		0.1938,0.0,0.1323	probably-damaging	1246/5538	49443634	16,12080	1919	4129	6048	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49443634G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3737C>T	12.37:g.49443634G>A	ENSP00000301067:p.Thr1246Met	HNSCC(34;0.089)					p.T1246M	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3737	-			1246					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.3737C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953105	0.34471	0.0	0.001938	ENSG00000167548	ENST00000301067	D	0.82081	-1.57	5.81	5.81	0.92471	.	0.000000	0.39615	N	0.001307	D	0.84415	0.5467	N	0.14661	0.345	0.34838	D	0.740381	D	0.89917	1.0	D	0.80764	0.994	D	0.89217	0.3568	10	0.87932	D	0	.	16.9952	0.86365	0.0:0.0:1.0:0.0	.	1246	O14686	MLL2_HUMAN	M	1246	ENSP00000301067:T1246M	ENSP00000301067:T1246M	T	-	2	0	MLL2	47729901	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.396000	0.59684	2.736000	0.93811	0.655000	0.94253	ACG		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				97	80	0	0	0	0.01441	0	97	80		
KMT2D	8085	broad.mit.edu	37	12	49446856	49446856	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:49446856C>T	ENST00000301067.7	-	8	954		c.e8-1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCGGCACGCCTAAGGGAAGG	0.532																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.e8-1		myeloid/lymphoid or mixed-lineage leukemia 2							88.0	90.0	89.0					12																	49446856		1983	4146	6129	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49446856C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.955-1G>A	12.37:g.49446856C>T		HNSCC(34;0.089)					p.A319_splice	NM_003482	NP_003473	O14686	MLL2_HUMAN			8	955	-								O14687	Splice_Site	SNP	ENST00000301067.7	37	c.955_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391909	0.42410	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6021	0.84818	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47733123	1.000000	0.71417	0.999000	0.59377	0.266000	0.26442	6.474000	0.73578	2.646000	0.89796	0.561000	0.74099	.		0.532	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			Intron	47	111	0	0	0	0.01441	0	47	111		
KRT18	3875	broad.mit.edu	37	12	53343177	53343177	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:53343177A>T	ENST00000388835.3	+	1	430	c.220A>T	c.(220-222)Atg>Ttg	p.M74L	KRT8_ENST00000546897.1_Intron|KRT18_ENST00000388837.2_Missense_Mutation_p.M74L|KRT18_ENST00000550600.1_Missense_Mutation_p.M74L|KRT8_ENST00000549198.1_Intron|KRT8_ENST00000552551.1_Intron|AC107016.2_ENST00000581256.1_RNA	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	74	Head.|Necessary for interaction with PNN.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						TCTGGCAGGAATGGGAGGCAT	0.662																																						uc001sbe.2		NaN																	0				skin(1)	1						c.(220-222)ATG>TTG		keratin 18							20.0	24.0	23.0					12																	53343177		2141	4193	6334	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53343177A>T		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.220A>T	12.37:g.53343177A>T	ENSP00000373487:p.Met74Leu					KRT18_uc009zmn.1_Missense_Mutation_p.M74L|KRT18_uc001sbf.1_5'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.M74L|KRT18_uc009zmo.2_Missense_Mutation_p.M74L|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	p.M74L	NM_199187	NP_954657	P05783	K1C18_HUMAN			2	289	+			74			Head.|Necessary for interaction with PNN.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.220A>T	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.451577	0.26074	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	T;T;T	0.81247	-1.39;-1.47;-1.39	3.79	-0.0533	0.13818	.	0.683428	0.13179	N	0.407663	T	0.69886	0.3161	M	0.64170	1.965	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.50816	-0.8783	10	0.11485	T	0.65	.	4.3416	0.11113	0.6261:0.1704:0.2035:0.0	.	74;74	F8VZY9;P05783	.;K1C18_HUMAN	L	74	ENSP00000373489:M74L;ENSP00000447278:M74L;ENSP00000373487:M74L	ENSP00000373487:M74L	M	+	1	0	KRT18	51629444	0.026000	0.19158	0.013000	0.15412	0.750000	0.42670	0.531000	0.23052	-0.000000	0.14550	0.454000	0.30748	ATG		0.662	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1		NM_199187		30	55	0	0	0	0.012213	0	30	55		
OR6C74	254783	broad.mit.edu	37	12	55641322	55641322	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:55641322C>A	ENST00000343870.4	+	1	341	c.251C>A	c.(250-252)gCa>gAa	p.A84E		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GTTAGTATGGCAACAGGTGAT	0.398																																						uc010spg.1		NaN																	0				central_nervous_system(1)	1						c.(250-252)GCA>GAA		olfactory receptor, family 6, subfamily C,							195.0	196.0	196.0					12																	55641322		2203	4300	6503	SO:0001583	missense	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641322C>A		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.251C>A	12.37:g.55641322C>A	ENSP00000342836:p.Ala84Glu						p.A84E	NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN			1	251	+			84			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000343870.4	37	c.251C>A	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	c	13.18	2.158784	0.38119	.	.	ENSG00000197706	ENST00000343870	T	0.00402	7.56	4.83	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	0.753041	0.11751	N	0.533066	T	0.00241	0.0007	L	0.27053	0.805	0.09310	N	1	P	0.42161	0.772	B	0.39185	0.293	T	0.47573	-0.9107	10	0.49607	T	0.09	.	7.0024	0.24817	0.0:0.2805:0.1343:0.5852	.	84	A6NCV1	O6C74_HUMAN	E	84	ENSP00000342836:A84E	ENSP00000342836:A84E	A	+	2	0	OR6C74	53927589	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.083000	0.11286	-0.409000	0.07553	0.551000	0.68910	GCA		0.398	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1				10	266	1	0	1.61879e-10	0.013537	1.6751e-10	10	266		
NUDT4	11163	broad.mit.edu	37	12	93793095	93793095	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:93793095T>G	ENST00000415493.2	+	5	910	c.483T>G	c.(481-483)gaT>gaG	p.D161E	NUDT4_ENST00000549992.1_Missense_Mutation_p.D109E|NUDT4_ENST00000548662.1_Missense_Mutation_p.D109E|NUDT4_ENST00000547014.1_Missense_Mutation_p.D110E|NUDT4_ENST00000337179.5_Missense_Mutation_p.D162E	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	161					calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						CCCTTCCGGATAATAATGCCT	0.478																																						uc001tcm.2		NaN																	0					0						c.(481-483)GAT>GAG		nudix-type motif 4 isoform alpha							203.0	204.0	204.0					12																	93793095		2203	4300	6503	SO:0001583	missense	11163				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chr12:93793095T>G	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"""Nudix motif containing"""	8051	protein-coding gene	gene with protein product	"""diphosphoinositol polyphosphate phosphohydrolase type 2"""	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.483T>G	12.37:g.93793095T>G	ENSP00000406612:p.Asp161Glu					NUDT4_uc010sup.1_Missense_Mutation_p.D161E|NUDT4_uc001tcn.2_Missense_Mutation_p.D109E|NUDT4_uc010suq.1_Missense_Mutation_p.D110E|NUDT4_uc001tco.2_Missense_Mutation_p.D109E	p.D161E	NM_019094	NP_061967	Q9NZJ9	NUDT4_HUMAN			5	881	+			161					B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Missense_Mutation	SNP	ENST00000415493.2	37	c.483T>G	CCDS44952.1	.	.	.	.	.	.	.	.	.	.	T	5.940	0.357486	0.11239	.	.	ENSG00000173598	ENST00000337179;ENST00000415493;ENST00000549992;ENST00000548662;ENST00000547014;ENST00000546925	T;T	0.34472	1.38;1.36	5.53	-5.5	0.02576	.	0.337088	0.38326	N	0.001729	T	0.16041	0.0386	N	0.19112	0.55	0.35903	D	0.830569	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.03795	-1.1003	10	0.27785	T	0.31	-5.2479	7.5994	0.28067	0.0:0.2641:0.425:0.3109	.	162;161	Q9NZJ9-2;Q9NZJ9	.;NUDT4_HUMAN	E	162;161;109;109;110;109	ENSP00000338352:D162E;ENSP00000406612:D161E	ENSP00000338352:D162E	D	+	3	2	NUDT4	92317226	0.257000	0.24022	0.090000	0.20809	0.034000	0.12701	-0.410000	0.07151	-0.835000	0.04234	-0.313000	0.08912	GAT		0.478	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1		NM_019094		8	283	0	0	0	0.008291	0	8	283		
GOLGA2P5	55592	broad.mit.edu	37	12	100551433	100551433	+	RNA	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:100551433C>A	ENST00000397112.4	-	0	1765				AC010203.1_ENST00000408843.1_RNA|RN7SL176P_ENST00000580352.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						ATGAGCCAGGCGCTGGCAGTG	0.622																																						uc001tgs.2		NaN																	0					0						c.(163-165)GCC>TCC		golgi autoantigen, golgin subfamily a, 2-like 1							31.0	34.0	33.0					12																	100551433		2203	4300	6503			55592							g.chr12:100551433C>A																													12.37:g.100551433C>A						GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Missense_Mutation_p.A55S|uc001tgx.2_5'Flank	p.A55S	NM_017600	NP_060070					4	607	-								Q9NSV2	Missense_Mutation	SNP	ENST00000397112.4	37	c.163G>T																																																																																					0.622	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2				22	47	1	0	3.73148e-12	0.007291	3.87813e-12	22	47		
EID3	493861	broad.mit.edu	37	12	104697751	104697751	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:104697751C>T	ENST00000527879.1	+	1	235	c.39C>T	c.(37-39)tcC>tcT	p.S13S	TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000529546.1_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CGGGCTGCTCCGACGACCTCA	0.662																																						uc001tkw.2		NaN																	0					0						c.(37-39)TCC>TCT		EP300 interacting inhibitor of differentiation							15.0	19.0	17.0					12																	104697751		2119	4223	6342	SO:0001819	synonymous_variant	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104697751C>T	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.39C>T	12.37:g.104697751C>T						TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	p.S13S	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN			1	203	+			13						Silent	SNP	ENST00000527879.1	37	c.39C>T	CCDS53822.1																																																																																				0.662	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1		NM_001008394		5	22	0	0	0	0.000602	0	5	22		
POLR3B	55703	broad.mit.edu	37	12	106890641	106890641	+	Missense_Mutation	SNP	G	G	A	rs199545845		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:106890641G>A	ENST00000228347.4	+	25	3151	c.2929G>A	c.(2929-2931)Gtt>Att	p.V977I	POLR3B_ENST00000539066.1_Missense_Mutation_p.V919I|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	977					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TGAGGACCTCGTTCGCCATGG	0.488																																						uc001tlp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2929-2931)GTT>ATT		DNA-directed RNA polymerase III B isoform 1							216.0	171.0	186.0					12																	106890641		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106890641G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2929G>A	12.37:g.106890641G>A	ENSP00000228347:p.Val977Ile					POLR3B_uc001tlq.2_Missense_Mutation_p.V919I	p.V977I	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			25	3151	+			977					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.2929G>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	9.818	1.184926	0.21870	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.71934	-0.61;-0.61	5.56	4.66	0.58398	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.101035	0.64402	D	0.000003	T	0.42832	0.1220	N	0.05592	-0.015	0.35312	D	0.784018	B	0.02656	0.0	B	0.09377	0.004	T	0.39800	-0.9596	10	0.12430	T	0.62	-23.4765	4.391	0.11341	0.1802:0.0:0.6251:0.1946	.	977	Q9NW08	RPC2_HUMAN	I	977;919	ENSP00000228347:V977I;ENSP00000445721:V919I	ENSP00000228347:V977I	V	+	1	0	POLR3B	105414771	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	7.557000	0.82243	1.312000	0.45043	0.655000	0.94253	GTT		0.488	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082		42	102	0	0	0	0.01441	0	42	102		
GLTP	51228	broad.mit.edu	37	12	110318126	110318126	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:110318126G>C	ENST00000318348.4	-	1	167	c.54C>G	c.(52-54)atC>atG	p.I18M	RP1-7G5.6_ENST00000446473.2_lincRNA|GLTP_ENST00000544393.1_Missense_Mutation_p.I18M	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	18					glycolipid transport (GO:0046836)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|lipid binding (GO:0008289)			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		GCCCGGTCTCGATCTGCTTGT	0.731																																						uc001tpm.2		NaN																	0					0						c.(52-54)ATC>ATG		glycolipid transfer protein							29.0	31.0	30.0					12																	110318126		2200	4300	6500	SO:0001583	missense	51228					cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr12:110318126G>C	AF209704, AY372530	CCDS9136.1	12q24.11	2008-08-08			ENSG00000139433	ENSG00000139433			24867	protein-coding gene	gene with protein product		608949				15287756, 15901739	Standard	NM_016433		Approved		uc001tpm.3	Q9NZD2	OTTHUMG00000169278	ENST00000318348.4:c.54C>G	12.37:g.110318126G>C	ENSP00000315263:p.Ile18Met					GLTP_uc010sxt.1_RNA	p.I18M	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0025)	1	168	-		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)	18					Q53Z13|Q96J68	Missense_Mutation	SNP	ENST00000318348.4	37	c.54C>G	CCDS9136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.91|16.91	3.252727|3.252727	0.59212|0.59212	.|.	.|.	ENSG00000139433|ENSG00000139433	ENST00000318348;ENST00000544393|ENST00000540772	.|.	.|.	.|.	4.62|4.62	3.72|3.72	0.42706|0.42706	Glycolipid transfer protein domain (3);|.	0.058442|.	0.64402|.	D|.	0.000002|.	T|T	0.74589|0.74589	0.3736|0.3736	M|M	0.84585|0.84585	2.705|2.705	0.37787|0.37787	D|D	0.927222|0.927222	D|.	0.57257|.	0.979|.	D|.	0.63488|.	0.915|.	T|T	0.78463|0.78463	-0.2194|-0.2194	9|5	0.59425|.	D|.	0.04|.	.|.	10.4729|10.4729	0.44648|0.44648	0.0:0.0:0.8052:0.1948|0.0:0.0:0.8052:0.1948	.|.	18|.	Q9NZD2|.	GLTP_HUMAN|.	M|W	18|2	.|.	ENSP00000315263:I18M|.	I|S	-|-	3|2	3|0	GLTP|GLTP	108802509|108802509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.828000|0.828000	0.27435|0.27435	1.059000|1.059000	0.40554|0.40554	0.562000|0.562000	0.76482|0.76482	ATC|TCG		0.731	GLTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403278.2		NM_016433		12	24	0	0	0	0.00499	0	12	24		
GIT2	9815	broad.mit.edu	37	12	110397701	110397701	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:110397701G>C	ENST00000355312.3	-	12	1049	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	GIT2_ENST00000547815.1_Silent_p.L350L|GIT2_ENST00000354574.4_Silent_p.L352L|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Silent_p.L349L|GIT2_ENST00000457474.2_Silent_p.L352L|GIT2_ENST00000356259.4_Silent_p.L350L|GIT2_ENST00000320063.9_Silent_p.L350L|GIT2_ENST00000338373.5_Silent_p.L350L|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000360185.4_Silent_p.L350L|GIT2_ENST00000361006.5_Silent_p.L350L|GIT2_ENST00000553118.1_Silent_p.L350L	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	350					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TGGCGTCACTGAGAATGTCAA	0.463																																						uc001tps.2		NaN																	0				central_nervous_system(1)	1						c.(1048-1050)CTC>CTG		G protein-coupled receptor kinase interacting							91.0	81.0	84.0					12																	110397701		2203	4300	6503	SO:0001819	synonymous_variant	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110397701G>C	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1050C>G	12.37:g.110397701G>C						GIT2_uc001tpq.2_Silent_p.L350L|GIT2_uc001tpv.2_Silent_p.L352L|GIT2_uc001tpu.2_Silent_p.L350L|GIT2_uc001tpt.2_Silent_p.L350L|GIT2_uc010sxu.1_Silent_p.L288L|GIT2_uc001tpw.2_Silent_p.L350L|GIT2_uc010sxv.1_Silent_p.L350L	p.L350L	NM_057169	NP_476510	Q14161	GIT2_HUMAN			12	1215	-			350					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	ENST00000355312.3	37	c.1050C>G	CCDS9138.1																																																																																				0.463	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1		NM_057169		22	59	0	0	0	0.005443	0	22	59		
HECTD4	283450	broad.mit.edu	37	12	112696955	112696955	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:112696955C>G	ENST00000430131.2	-	18	2837	c.1692G>C	c.(1690-1692)ctG>ctC	p.L564L	RP3-521E19.2_ENST00000547401.1_RNA|HECTD4_ENST00000377560.5_Silent_p.L814L|HECTD4_ENST00000550722.1_Silent_p.L850L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	564					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTGAGGCATCAGGGCATCCG	0.483																																						uc009zwc.2		NaN																	0				ovary(1)|lung(1)	2						c.(1690-1692)CTG>CTC		chromosome 12 open reading frame 51							137.0	128.0	131.0					12																	112696955		2203	4300	6503	SO:0001819	synonymous_variant	283450							g.chr12:112696955C>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1692G>C	12.37:g.112696955C>G						C12orf51_uc010syk.1_Silent_p.L387L|C12orf51_uc001tts.2_Silent_p.L387L|C12orf51_uc001ttt.3_Silent_p.L385L	p.L564L	NM_001109662	NP_001103132					12	1710	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.1692G>C																																																																																					0.483	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813		41	694	0	0	0	0.01441	0	41	694		
SRSF9	8683	broad.mit.edu	37	12	120901878	120901878	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:120901878C>T	ENST00000229390.3	-	3	580	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	133	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						TCCCCAGCTTCTCGCATGTGA	0.507																																						uc001tyi.2		NaN																	0					0						c.(397-399)GAA>AAA		splicing factor, arginine/serine-rich 9							173.0	153.0	160.0					12																	120901878		2203	4300	6503	SO:0001583	missense	8683				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding	g.chr12:120901878C>T	U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10791	protein-coding gene	gene with protein product	"""SR splicing factor 9"""	601943	"""splicing factor, arginine/serine-rich 9"""	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790	ENST00000229390.3:c.397G>A	12.37:g.120901878C>T	ENSP00000229390:p.Glu133Lys						p.E133K	NM_003769	NP_003760	Q13242	SRSF9_HUMAN			3	543	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		133			RRM 2.		Q52LD1	Missense_Mutation	SNP	ENST00000229390.3	37	c.397G>A	CCDS9199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.70|16.70	3.195473|3.195473	0.58126|0.58126	.|.	.|.	ENSG00000111786|ENSG00000111786	ENST00000229390|ENST00000550458	T|T	0.14766|0.05649	2.48|3.41	5.43|5.43	5.43|5.43	0.79202|0.79202	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.119719|.	0.53938|.	D|.	0.000045|.	T|T	0.16811|0.16811	0.0404|0.0404	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.67103|.	0.949|.	T|T	0.00158|0.00158	-1.1976|-1.1976	10|6	0.24483|.	T|.	0.36|.	.|.	18.1794|18.1794	0.89772|0.89772	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	133|.	Q13242|.	SRSF9_HUMAN|.	K|K	133|77	ENSP00000229390:E133K|ENSP00000449030:R77K	ENSP00000229390:E133K|.	E|R	-|-	1|2	0|0	SRSF9|SRSF9	119386261|119386261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.241000|5.241000	0.65384|0.65384	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.507	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108983.2		NM_003769		45	149	0	0	0	0.01441	0	45	149		
VPS33A	65082	broad.mit.edu	37	12	122723263	122723263	+	Silent	SNP	A	A	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:122723263A>G	ENST00000267199.4	-	10	1285	c.1173T>C	c.(1171-1173)aaT>aaC	p.N391N	RP11-512M8.5_ENST00000535844.1_Silent_p.N352N	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	391					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCTCAATGTAATTGTTGACCT	0.378																																						uc001ucd.2		NaN																	0				skin(1)	1						c.(1171-1173)AAT>AAC		vacuolar protein sorting 33A							149.0	134.0	139.0					12																	122723263		2203	4300	6503	SO:0001819	synonymous_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122723263A>G	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1173T>C	12.37:g.122723263A>G						VPS33A_uc001ucc.2_RNA	p.N391N	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	10	1286	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		391					Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	c.1173T>C	CCDS9231.1																																																																																				0.378	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2				53	114	0	0	0	0.01441	0	53	114		
RIMBP2	23504	broad.mit.edu	37	12	130926783	130926783	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:130926783C>T	ENST00000261655.4	-	8	1226	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	RIMBP2_ENST00000535703.1_Missense_Mutation_p.E263K|RIMBP2_ENST00000536002.1_Missense_Mutation_p.E263K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	355	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTGAGCTTCTCGATGAGGGCT	0.612																																						uc001uil.2		NaN																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1063-1065)GAG>AAG		RIM-binding protein 2							201.0	190.0	194.0					12																	130926783		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130926783C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1063G>A	12.37:g.130926783C>T	ENSP00000261655:p.Glu355Lys					RIMBP2_uc001uim.2_Missense_Mutation_p.E263K|RIMBP2_uc001uin.1_Missense_Mutation_p.E14K	p.E355K	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1227	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	355			Fibronectin type-III 1.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1063G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	c	29.1	4.974750	0.92919	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.53423	0.62;0.62;0.62	4.27	4.27	0.50696	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.055638	0.64402	D	0.000001	T	0.72684	0.3491	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.76575	0.771;0.988;0.981	T	0.80106	-0.1521	10	0.87932	D	0	-34.1843	16.6931	0.85327	0.0:1.0:0.0:0.0	.	263;263;355	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	K	355;263;263;263	ENSP00000261655:E355K;ENSP00000440347:E263K;ENSP00000439159:E263K	ENSP00000261655:E355K	E	-	1	0	RIMBP2	129492736	1.000000	0.71417	0.933000	0.37362	0.727000	0.41649	7.772000	0.85439	1.907000	0.55213	0.431000	0.28591	GAG		0.612	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1		NM_015347		14	72	0	0	0	0.006122	0	14	72		
OR4K2	390431	broad.mit.edu	37	14	20345191	20345191	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:20345191C>T	ENST00000298642.2	+	1	801	c.765C>T	c.(763-765)atC>atT	p.I255I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCATGCATCTTCATCTACA	0.408																																						uc001vwh.1		NaN																	0				ovary(2)|skin(2)	4						c.(763-765)ATC>ATT		olfactory receptor, family 4, subfamily K,							187.0	177.0	180.0					14																	20345191		2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345191C>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.765C>T	14.37:g.20345191C>T							p.I255I	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	765	+	all_cancers(95;0.00108)		255			Helical; Name=6; (Potential).		B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.765C>T	CCDS32023.1																																																																																				0.408	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1				21	92	0	0	0	0.00278	0	21	92		
PROX2	283571	broad.mit.edu	37	14	75330507	75330507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:75330507G>A	ENST00000445876.1	-	1	30	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	PROX2_ENST00000556489.2_Nonsense_Mutation_p.Q11*|PROX2_ENST00000556084.2_Nonsense_Mutation_p.Q11*			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	11					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		ATCTGGGGCTGAGGAGAAAGC	0.542																																						uc001xqr.1		NaN																	0					0						c.(31-33)CAG>TAG		prospero homeobox 2							69.0	70.0	70.0					14																	75330507		1978	4151	6129	SO:0001587	stop_gained	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75330507G>A		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.31C>T	14.37:g.75330507G>A	ENSP00000405932:p.Gln11*					PROX2_uc001xqq.1_5'UTR	p.Q11*	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	31	-			11					C9J5W1|Q8N9Q3	Nonsense_Mutation	SNP	ENST00000445876.1	37	c.31C>T	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486481	0.84854	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876	.	.	.	5.43	3.4	0.38934	.	0.973816	0.08433	N	0.946672	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1013	10.0336	0.42116	0.0795:0.0:0.7746:0.146	.	.	.	.	X	11	.	ENSP00000374315:Q11X	Q	-	1	0	PROX2	74400260	0.244000	0.23889	0.002000	0.10522	0.519000	0.34347	3.242000	0.51384	1.298000	0.44778	0.561000	0.74099	CAG		0.542	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					22	69	0	0	0	0.007291	0	22	69		
IFT43	112752	broad.mit.edu	37	14	76548711	76548711	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:76548711G>A	ENST00000314067.6	+	6	402		c.e6+1		IFT43_ENST00000238628.6_Splice_Site	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43						cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCCCTCCCAGGTAGGTTAAAT	0.453																																						uc010asm.1		NaN																	0					0						c.e6+1		hypothetical protein LOC112752 isoform 2							184.0	180.0	182.0					14																	76548711		2203	4300	6503	SO:0001630	splice_region_variant	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76548711G>A	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.368+1G>A	14.37:g.76548711G>A						C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Silent_p.R123R|C14orf179_uc001xsg.2_Splice_Site_p.S128_splice|C14orf179_uc010tve.1_Splice_Site	p.S123_splice	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0199)	6	402	+								B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Splice_Site	SNP	ENST00000314067.6	37	c.368_splice	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342185	0.61073	.	.	ENSG00000119650	ENST00000314067;ENST00000238628	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4492	0.90697	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT43	75618464	1.000000	0.71417	0.995000	0.50966	0.469000	0.32828	9.195000	0.94971	2.346000	0.79739	0.563000	0.77884	.		0.453	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_052873	Intron	84	217	0	0	0	0.01441	0	84	217		
DICER1	23405	broad.mit.edu	37	14	95590756	95590756	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:95590756G>A	ENST00000526495.1	-	10	1444	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	DICER1_ENST00000343455.3_Missense_Mutation_p.R385C|DICER1_ENST00000393063.1_Missense_Mutation_p.R385C|DICER1_ENST00000541352.1_Missense_Mutation_p.R385C|DICER1_ENST00000527414.1_Missense_Mutation_p.R385C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	385	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTATATTTGCGTAAGATTTCG	0.378			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NaN	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(1153-1155)CGC>TGC		dicer1							147.0	146.0	147.0					14																	95590756		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95590756G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1153C>T	14.37:g.95590756G>A	ENSP00000437256:p.Arg385Cys					DICER1_uc001ydv.2_Missense_Mutation_p.R375C|DICER1_uc001ydx.2_Missense_Mutation_p.R385C	p.R385C	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	9	1335	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	385			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.1153C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625808	0.87560	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.52	5.54	5.54	0.83059	.	0.096661	0.64402	D	0.000001	T	0.65626	0.2709	L	0.58101	1.795	0.80722	D	1	D	0.71674	0.998	P	0.49999	0.628	T	0.68777	-0.5319	10	0.62326	D	0.03	-17.1745	19.4888	0.95042	0.0:0.0:1.0:0.0	.	385	Q9UPY3	DICER_HUMAN	C	385	ENSP00000343745:R385C;ENSP00000437256:R385C;ENSP00000376783:R385C;ENSP00000435681:R385C;ENSP00000444719:R385C	ENSP00000343745:R385C	R	-	1	0	DICER1	94660509	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	9.187000	0.94912	2.607000	0.88179	0.585000	0.79938	CGC		0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1				39	56	0	0	0	0.00874	0	39	56		
AQR	9716	broad.mit.edu	37	15	35202345	35202345	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:35202345C>T	ENST00000156471.5	-	17	1879	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	552					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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)		CCTTCCCATTCATCTTTGATG	0.368																																						uc001ziv.2		NaN																	0				large_intestine(1)	1						c.(1654-1656)GAA>AAA		aquarius							149.0	142.0	144.0					15																	35202345		1903	4118	6021	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35202345C>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.1654G>A	15.37:g.35202345C>T	ENSP00000156471:p.Glu552Lys						p.E552K	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	1835	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	552					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1654G>A	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288338	0.95517	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.95238	-3.65	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.98337	0.9448	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99164	1.0862	10	0.72032	D	0.01	-20.82	19.5095	0.95135	0.0:1.0:0.0:0.0	.	552	O60306	AQR_HUMAN	K	552	ENSP00000156471:E552K	ENSP00000156471:E552K	E	-	1	0	AQR	32989637	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.725000	0.84808	2.616000	0.88540	0.585000	0.79938	GAA		0.368	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2		NM_014691		45	104	0	0	0	0.01441	0	45	104		
KIAA0101	9768	broad.mit.edu	37	15	64669028	64669028	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:64669028G>C	ENST00000300035.4	-	3	342	c.204C>G	c.(202-204)ttC>ttG	p.F68L	KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.F41L|KIAA0101_ENST00000558008.1_Missense_Mutation_p.F68L	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	68					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						ACAACCTAAAGAATTCTCCAA	0.403																																						uc002ank.2		NaN																	0				central_nervous_system(1)	1						c.(202-204)TTC>TTG		hypothetical protein LOC9768 isoform 1							47.0	49.0	49.0					15																	64669028		2203	4300	6503	SO:0001583	missense	9768					mitochondrion|nucleus		g.chr15:64669028G>C	D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.204C>G	15.37:g.64669028G>C	ENSP00000300035:p.Phe68Leu					KIAA0101_uc002anl.2_Intron	p.F68L	NM_014736	NP_055551	Q15004	PAF_HUMAN			3	336	-			68	F->A: Loss of binding to PCNA.				A6NNU5|A8K3Y3|G9G694|G9G696	Missense_Mutation	SNP	ENST00000300035.4	37	c.204C>G	CCDS10193.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434510	0.83776	.	.	ENSG00000166803	ENST00000300035	T	0.68181	-0.31	5.69	5.69	0.88448	.	0.103048	0.64402	D	0.000002	T	0.82263	0.4999	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.83509	0.0079	10	0.72032	D	0.01	-24.6016	18.5643	0.91112	0.0:0.0:1.0:0.0	.	68	Q15004	PAF_HUMAN	L	68	ENSP00000300035:F68L	ENSP00000300035:F68L	F	-	3	2	KIAA0101	62456081	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.630000	0.67805	2.684000	0.91462	0.585000	0.79938	TTC		0.403	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256603.1		NM_014736		32	21	0	0	0	0.013726	0	32	21		
STARD5	80765	broad.mit.edu	37	15	81605711	81605711	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:81605711G>T	ENST00000302824.6	-	6	553	c.528C>A	c.(526-528)ttC>ttA	p.F176L		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	176	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GGTCGGTATGGAAGAATGTGA	0.567																																						uc002bgm.2		NaN																	0				ovary(1)	1						c.(526-528)TTC>TTA		StAR-related lipid transfer protein 5							190.0	162.0	172.0					15																	81605711		2203	4300	6503	SO:0001583	missense	80765				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	g.chr15:81605711G>T	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.528C>A	15.37:g.81605711G>T	ENSP00000304032:p.Phe176Leu					STARD5_uc002bgn.2_Missense_Mutation_p.F69L	p.F176L	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN			6	612	-			176			START.		P59094	Missense_Mutation	SNP	ENST00000302824.6	37	c.528C>A	CCDS10318.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838509	0.32513	.	.	ENSG00000172345	ENST00000302824	T	0.76839	-1.05	5.07	0.945	0.19543	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	M	0.62016	1.91	0.58432	D	0.999997	P	0.46064	0.872	B	0.40677	0.337	T	0.67730	-0.5595	10	0.02654	T	1	-15.4841	8.3287	0.32173	0.5233:0.0:0.4767:0.0	.	176	Q9NSY2	STAR5_HUMAN	L	176	ENSP00000304032:F176L	ENSP00000304032:F176L	F	-	3	2	STARD5	79392766	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	1.931000	0.40134	0.244000	0.21351	-0.258000	0.10820	TTC		0.567	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2				42	96	1	0	1.67211e-32	0.01441	1.84242e-32	42	96		
AEN	64782	broad.mit.edu	37	15	89169733	89169733	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:89169733C>T	ENST00000332810.3	+	2	444	c.293C>T	c.(292-294)gCt>gTt	p.A98V	AEN_ENST00000379231.3_Missense_Mutation_p.A98V	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	98					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AGAAGGCCTGCTCCCGGGAAA	0.662																																						uc002bmt.2		NaN																	0					0						c.(292-294)GCT>GTT		interferon stimulated exonuclease gene							49.0	54.0	52.0					15																	89169733		2200	4299	6499	SO:0001583	missense	64782				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	g.chr15:89169733C>T	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.293C>T	15.37:g.89169733C>T	ENSP00000331944:p.Ala98Val					AEN_uc010bnl.2_Missense_Mutation_p.A98V|AEN_uc010bnm.1_Missense_Mutation_p.A98V	p.A98V	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN			2	444	+			98					C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	ENST00000332810.3	37	c.293C>T	CCDS10344.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445665	0.25987	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.18657	2.22;2.2	5.15	0.447	0.16608	.	2.437090	0.01899	N	0.039047	T	0.08313	0.0207	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.19386	-1.0307	10	0.28530	T	0.3	-19.6793	1.7141	0.02898	0.2929:0.4052:0.1219:0.1801	.	98;98	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	V	98	ENSP00000331944:A98V;ENSP00000368533:A98V	ENSP00000331944:A98V	A	+	2	0	AEN	86970737	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.294000	0.19047	0.155000	0.19261	0.655000	0.94253	GCT		0.662	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1		NM_022767		16	47	0	0	0	0.006122	0	16	47		
NOXO1	124056	broad.mit.edu	37	16	2029284	2029284	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:2029284C>G	ENST00000397280.4	-	8	903	c.900G>C	c.(898-900)ctG>ctC	p.L300L	AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000356120.4_Silent_p.L295L|NOXO1_ENST00000354249.4_Silent_p.L294L|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Silent_p.L299L			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	300					extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	CCGTCCCGCTCAGGAGAGCGC	0.776																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	uc002cnx.2		NaN																	0					0						c.(898-900)CTG>CTC		NADPH oxidase organizer 1 isoform c							3.0	4.0	4.0					16																	2029284		1845	3710	5555	SO:0001819	synonymous_variant	124056				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity	g.chr16:2029284C>G	AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.900G>C	16.37:g.2029284C>G						NOXO1_uc002cnz.2_Silent_p.L294L|NOXO1_uc002coa.2_Silent_p.L299L|NOXO1_uc002cny.2_Silent_p.L295L	p.L300L	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN			8	904	-			300					Q86YM1|Q8NFA3|Q96B73	Silent	SNP	ENST00000397280.4	37	c.900G>C	CCDS42101.1																																																																																				0.776	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1				3	2	0	0	0	0.000602	0	3	2		
NOXO1	124056	broad.mit.edu	37	16	2029448	2029448	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:2029448C>G	ENST00000397280.4	-	7	814	c.811G>C	c.(811-813)Gac>Cac	p.D271H	AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000356120.4_Missense_Mutation_p.D266H|NOXO1_ENST00000354249.4_Missense_Mutation_p.D265H|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.D270H			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	271	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	CAGCCGCGGTCTGACGTTTCC	0.721																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	uc002cnx.2		NaN																	0					0						c.(811-813)GAC>CAC		NADPH oxidase organizer 1 isoform c							13.0	15.0	14.0					16																	2029448		2171	4254	6425	SO:0001583	missense	124056				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity	g.chr16:2029448C>G	AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.811G>C	16.37:g.2029448C>G	ENSP00000380450:p.Asp271His					NOXO1_uc002cnz.2_Missense_Mutation_p.D265H|NOXO1_uc002coa.2_Missense_Mutation_p.D270H|NOXO1_uc002cny.2_Missense_Mutation_p.D266H	p.D271H	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN			7	815	-			271			SH3 2.		Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	ENST00000397280.4	37	c.811G>C	CCDS42101.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907730	0.72868	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.36878	1.23;1.23;1.23	5.1	5.1	0.69264	Src homology-3 domain (4);	0.140134	0.64402	D	0.000005	T	0.55609	0.1931	M	0.85630	2.765	0.19300	N	0.999976	D;D;D;D	0.64830	0.988;0.994;0.994;0.986	P;P;P;P	0.59357	0.847;0.847;0.847;0.856	T	0.55211	-0.8176	10	0.46703	T	0.11	-34.3732	8.5009	0.33156	0.0:0.7612:0.1556:0.0831	.	270;265;266;271	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	H	265;266;271	ENSP00000346195:D265H;ENSP00000348435:D266H;ENSP00000380450:D271H	ENSP00000346195:D265H	D	-	1	0	NOXO1	1969449	0.966000	0.33281	0.016000	0.15963	0.030000	0.12068	2.420000	0.44679	2.368000	0.80403	0.561000	0.74099	GAC		0.721	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1				3	14	0	0	0	0.004672	0	3	14		
ZNF19	7567	broad.mit.edu	37	16	71509173	71509173	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:71509173G>T	ENST00000288177.5	-	6	1532	c.1277C>A	c.(1276-1278)tCc>tAc	p.S426Y	ZNF19_ENST00000565637.1_Missense_Mutation_p.S384Y|ZNF19_ENST00000564230.1_Missense_Mutation_p.S426Y|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.S356Y|AC010547.9_ENST00000561908.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	426					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)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ACCTAGCTGGGAAGAAGTCCC	0.453																																						uc010cgc.1		NaN																	0					0						c.(1276-1278)TCC>TAC		zinc finger protein 19							70.0	66.0	67.0					16																	71509173		2198	4300	6498	SO:0001583	missense	7567					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:71509173G>T	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.1277C>A	16.37:g.71509173G>T	ENSP00000288177:p.Ser426Tyr					ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.S414Y|ZNF19_uc002fal.1_Missense_Mutation_p.S414Y|ZNF19_uc002fam.1_Missense_Mutation_p.S426Y	p.S426Y	NM_006961	NP_008892	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	6	1783	-		Ovarian(137;0.00965)	426			C2H2-type 10; atypical.		A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.1277C>A	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072339	0.55646	.	.	ENSG00000157429	ENST00000288177	T	0.05717	3.4	2.87	2.87	0.33458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34268	N	0.004103	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	P	0.59948	0.866	T	0.18871	-1.0323	10	0.87932	D	0	.	11.9348	0.52868	0.0:0.0:1.0:0.0	.	426	P17023	ZNF19_HUMAN	Y	426	ENSP00000288177:S426Y	ENSP00000288177:S426Y	S	-	2	0	ZNF19	70066674	0.010000	0.17322	0.609000	0.28983	0.531000	0.34715	1.764000	0.38471	1.919000	0.55581	0.655000	0.94253	TCC		0.453	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2		NM_006961		9	31	1	0	0.00448238	0.004482	0.00457857	9	31		
DHX38	9785	broad.mit.edu	37	16	72138398	72138398	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:72138398G>A	ENST00000268482.3	+	15	2533	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	675	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTGGCTCGGCGCTCAGACCTG	0.612																																					Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2		NaN																	0				skin(1)	1						c.(2023-2025)CGC>CAC		DEAH (Asp-Glu-Ala-His) box polypeptide 38							98.0	78.0	85.0					16																	72138398		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72138398G>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2024G>A	16.37:g.72138398G>A	ENSP00000268482:p.Arg675His					DHX38_uc010vmp.1_Intron	p.R675H	NM_014003	NP_054722	Q92620	PRP16_HUMAN			15	2379	+		Ovarian(137;0.125)	675			Helicase ATP-binding.		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.2024G>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489946	0.96339	.	.	ENSG00000140829	ENST00000268482	T	0.30981	1.51	4.87	4.87	0.63330	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75125	0.3807	H	0.99565	4.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86862	0.2030	10	0.87932	D	0	.	18.5547	0.91080	0.0:0.0:1.0:0.0	.	675	Q92620	PRP16_HUMAN	H	675	ENSP00000268482:R675H	ENSP00000268482:R675H	R	+	2	0	DHX38	70695899	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.677000	0.91161	0.655000	0.94253	CGC		0.612	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3		NM_014003		8	28	0	0	0	0.008291	0	8	28		
PLCG2	5336	broad.mit.edu	37	16	81914556	81914556	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:81914556G>A	ENST00000359376.3	+	8	904	c.690G>A	c.(688-690)ctG>ctA	p.L230L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	230					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)			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						TGTTCATCCTGGGGTGAGGCA	0.537																																						uc002fgt.2		NaN																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(688-690)CTG>CTA		phospholipase C, gamma 2							118.0	120.0	119.0					16																	81914556		1982	4148	6130	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81914556G>A		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.690G>A	16.37:g.81914556G>A						PLCG2_uc010chg.1_Silent_p.L230L	p.L230L	NM_002661	NP_002652	P16885	PLCG2_HUMAN			8	842	+			230					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.690G>A	CCDS42204.1																																																																																				0.537	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1				68	102	0	0	0	0.01441	0	68	102		
SMTNL2	342527	broad.mit.edu	37	17	4497118	4497118	+	Splice_Site	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:4497118G>C	ENST00000389313.4	+	4	799	c.732G>C	c.(730-732)gaG>gaC	p.E244D	SMTNL2_ENST00000338859.4_Splice_Site_p.E100D	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	244										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CTTCCACAGAGAAGAATTCCT	0.577																																						uc002fyf.1		NaN																	0					0						c.(730-732)GAG>GAC		smoothelin-like 2 isoform 1							62.0	58.0	59.0					17																	4497118		2203	4300	6503	SO:0001630	splice_region_variant	342527							g.chr17:4497118G>C	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.731-1G>C	17.37:g.4497118G>C						SMTNL2_uc002fye.2_Missense_Mutation_p.E100D	p.E244D	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	4	799	+			244					Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.732G>C	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313390	0.23908	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.81499	-1.5;-1.5	4.21	2.18	0.27775	.	.	.	.	.	T	0.70141	0.3190	L	0.53249	1.67	0.25411	N	0.988351	P	0.38922	0.651	B	0.33690	0.168	T	0.58847	-0.7564	9	0.34782	T	0.22	.	4.9552	0.14035	0.1074:0.0:0.6835:0.2091	.	244	Q2TAL5	SMTL2_HUMAN	D	100;244	ENSP00000345143:E100D;ENSP00000373964:E244D	ENSP00000345143:E100D	E	+	3	2	SMTNL2	4443867	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	2.032000	0.41127	0.710000	0.31997	0.561000	0.74099	GAG		0.577	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1		NM_198501	Missense_Mutation	10	71	0	0	0	0.013537	0	10	71		
SLC47A1	55244	broad.mit.edu	37	17	19451306	19451306	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:19451306G>C	ENST00000270570.4	+	4	401	c.315G>C	c.(313-315)ggG>ggC	p.G105G	SLC47A1_ENST00000436810.2_Silent_p.G82G|SLC47A1_ENST00000542886.1_Silent_p.G105G|SLC47A1_ENST00000575023.1_Silent_p.G105G|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000457293.1_Silent_p.G105G|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000395585.1_Silent_p.G105G	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	105					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	AGACGTACGGGAGCCAGAACC	0.592																																						uc002gvy.1		NaN																	0					0						c.(313-315)GGG>GGC		solute carrier family 47, member 1							118.0	106.0	110.0					17																	19451306		2203	4300	6503	SO:0001819	synonymous_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19451306G>C		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.315G>C	17.37:g.19451306G>C						SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Silent_p.G105G|SLC47A1_uc010vyz.1_Silent_p.G82G|SLC47A1_uc010cqp.1_Silent_p.G105G|SLC47A1_uc010cqq.1_5'UTR	p.G105G	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN			4	401	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		105			Cytoplasmic (Potential).		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	37	c.315G>C	CCDS11209.1																																																																																				0.592	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1		NM_018242		23	37	0	0	0	0.00278	0	23	37		
LGALS9	3965	broad.mit.edu	37	17	25967775	25967775	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:25967775C>T	ENST00000395473.2	+	3	1777	c.309C>T	c.(307-309)ttC>ttT	p.F103F	LGALS9_ENST00000448970.2_3'UTR|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000413914.2_Silent_p.F46F|LGALS9_ENST00000302228.5_Silent_p.F103F|LGALS9_ENST00000310394.5_Silent_p.F103F|LGALS9_ENST00000313648.6_Silent_p.F103F	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	103	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		ACCTCTGCTTCCTGGTGCAGA	0.572																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	uc002gzp.2		NaN																	0					0						c.(307-309)TTC>TTT		galectin-9 isoform long							114.0	109.0	111.0					17																	25967775		2203	4300	6503	SO:0001819	synonymous_variant	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25967775C>T	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.309C>T	17.37:g.25967775C>T						LGALS9_uc002gzq.2_Silent_p.F103F|LGALS9_uc002gzr.2_Silent_p.F46F|LGALS9_uc010waa.1_Silent_p.F46F|LGALS9_uc002gzs.2_Silent_p.F103F	p.F103F	NM_009587	NP_033665	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	3	427	+	Lung NSC(42;0.0103)		103			Galectin 1.		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Silent	SNP	ENST00000395473.2	37	c.309C>T	CCDS11222.1																																																																																				0.572	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1		NM_009587		30	57	0	0	0	0.009535	0	30	57		
PHF12	57649	broad.mit.edu	37	17	27237353	27237353	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:27237353G>A	ENST00000332830.4	-	11	3060	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Silent_p.I750I	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCAGAAACTTGATCAGCTTCT	0.493																																						uc002hdg.1		NaN																	0				ovary(1)	1						c.(2248-2250)ATC>ATT		PHD finger protein 12 isoform 1							93.0	95.0	94.0					17																	27237353		2203	4300	6503	SO:0001819	synonymous_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27237353G>A	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2250C>T	17.37:g.27237353G>A						PHF12_uc010wbb.1_Silent_p.I732I|PHF12_uc002hdi.1_Silent_p.I746I|PHF12_uc002hdh.1_Silent_p.I533I	p.I750I	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		11	2780	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		750						Silent	SNP	ENST00000332830.4	37	c.2250C>T	CCDS32598.1																																																																																				0.493	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1		NM_020889		103	5	0	0	0	0.01441	0	103	5		
PHF12	57649	broad.mit.edu	37	17	27254016	27254016	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:27254016C>T	ENST00000332830.4	-	3	1124	c.314G>A	c.(313-315)cGc>cAc	p.R105H	RP11-20B24.5_ENST00000580782.1_RNA|PHF12_ENST00000268756.3_Missense_Mutation_p.R105H|PHF12_ENST00000582655.1_5'Flank|PHF12_ENST00000577226.1_Missense_Mutation_p.R105H|RP11-20B24.5_ENST00000582631.1_RNA|RP11-20B24.5_ENST00000592890.1_RNA	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.R105P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TACCTTTCGGCGAACAGTGCA	0.493																																						uc002hdg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(313-315)CGC>CAC		PHD finger protein 12 isoform 1							126.0	107.0	113.0					17																	27254016		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27254016C>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.314G>A	17.37:g.27254016C>T	ENSP00000329933:p.Arg105His					PHF12_uc010wbb.1_Missense_Mutation_p.R87H|PHF12_uc002hdi.1_Missense_Mutation_p.R101H|PHF12_uc002hdj.1_Missense_Mutation_p.R105H|PHF12_uc010crw.1_5'UTR|PHF12_uc002hdk.1_Missense_Mutation_p.R101H|uc002hdl.2_Intron|PHF12_uc002hdh.1_5'Flank	p.R105H	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		3	844	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		105			PHD-type 1.|Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.314G>A	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869403	0.91587	.	.	ENSG00000109118	ENST00000332830;ENST00000268756	D;D	0.87729	-2.29;-2.29	5.46	5.46	0.80206	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.056627	0.64402	D	0.000001	D	0.92136	0.7507	L	0.58583	1.82	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.973;0.994;0.999	D	0.91298	0.5064	10	0.41790	T	0.15	-9.1381	17.8792	0.88835	0.0:1.0:0.0:0.0	.	87;105;105;105;105	B4DFE2;A8K5V5;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;.;PHF12_HUMAN	H	105	ENSP00000329933:R105H;ENSP00000268756:R105H	ENSP00000268756:R105H	R	-	2	0	PHF12	24278142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.067000	0.71193	2.559000	0.86315	0.655000	0.94253	CGC		0.493	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1		NM_020889		23	125	0	0	0	0.005443	0	23	125		
CPD	1362	broad.mit.edu	37	17	28776730	28776730	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:28776730C>T	ENST00000225719.4	+	13	3109	c.3033C>T	c.(3031-3033)ctC>ctT	p.L1011L	CPD_ENST00000543464.2_Silent_p.L764L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1011	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAGAATTTCTCTGCCTGAACT	0.428																																						uc002hfb.1		NaN																	0				liver(1)|skin(1)	2						c.(3031-3033)CTC>CTT		carboxypeptidase D precursor							95.0	91.0	92.0					17																	28776730		2203	4300	6503	SO:0001819	synonymous_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28776730C>T	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3033C>T	17.37:g.28776730C>T						CPD_uc010wbo.1_Silent_p.L764L|CPD_uc010wbp.1_Intron	p.L1011L	NM_001304	NP_001295	O75976	CBPD_HUMAN			13	3048	+			1011			Extracellular (Potential).|Carboxypeptidase-like 3.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	c.3033C>T	CCDS11257.1																																																																																				0.428	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3		NM_001304		124	93	0	0	0	0.01441	0	124	93		
ACACA	31	broad.mit.edu	37	17	35506883	35506883	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:35506883T>C	ENST00000394406.2	-	45	5663	c.5473A>G	c.(5473-5475)Att>Gtt	p.I1825V	ACACA_ENST00000335166.5_Missense_Mutation_p.I1747V|ACACA_ENST00000353139.5_Missense_Mutation_p.I1862V|ACACA_ENST00000360679.3_Missense_Mutation_p.I1767V|ACACA_ENST00000361253.5_5'UTR	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1825	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAATCCCAATGGCCCGGCAC	0.428																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(5473-5475)ATT>GTT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						83.0	81.0	82.0					17																	35506883		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35506883T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5473A>G	17.37:g.35506883T>C	ENSP00000377928:p.Ile1825Val					ACACA_uc002hnk.2_Missense_Mutation_p.I1747V|ACACA_uc002hnl.2_Missense_Mutation_p.I1767V|ACACA_uc002hnn.2_Missense_Mutation_p.I1825V|ACACA_uc002hno.2_Missense_Mutation_p.I1862V|ACACA_uc010cuy.2_Missense_Mutation_p.I470V|ACACA_uc010wdc.1_5'UTR	p.I1825V	NM_198836	NP_942133	Q13085	ACACA_HUMAN			45	5664	-		Breast(25;0.00157)|Ovarian(249;0.15)	1825			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.5473A>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	8.521	0.868665	0.17322	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27	6.06	6.06	0.98353	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90930	0.7149	N	0.04746	-0.17	0.80722	D	1	B;B;B;B	0.15719	0.014;0.001;0.001;0.0	B;B;B;B	0.21708	0.036;0.013;0.006;0.002	D	0.87055	0.2149	10	0.02654	T	1	-16.9587	16.6093	0.84858	0.0:0.0:0.0:1.0	.	524;1862;1825;1767	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	V	1862;1767;1825;1849;1747;524	ENSP00000344789:I1862V;ENSP00000353898:I1767V;ENSP00000377928:I1825V;ENSP00000335323:I1747V	ENSP00000335323:I1747V	I	-	1	0	ACACA	32580996	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	ATT		0.428	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		26	62	0	0	0	0.003954	0	26	62		
KRT35	3886	broad.mit.edu	37	17	39635732	39635732	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:39635732C>G	ENST00000393989.1	-	3	620	c.578G>C	c.(577-579)cGg>cCg	p.R193P	KRT35_ENST00000246639.2_Missense_Mutation_p.R163P	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	193	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CACCAGCTGCCGCAGGGACAC	0.587																																						uc002hws.2		NaN																	0				ovary(1)|skin(1)	2						c.(577-579)CGG>CCG		keratin 35							84.0	80.0	81.0					17																	39635732		2203	4300	6503	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635732C>G	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.578G>C	17.37:g.39635732C>G	ENSP00000377558:p.Arg193Pro						p.R193P	NM_002280	NP_002271	Q92764	KRT35_HUMAN			3	621	-		Breast(137;0.000286)	193			Rod.|Coil 1B.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.578G>C	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195293	0.78902	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.91996	-2.95;-2.95	4.47	4.47	0.54385	Filament (1);	0.000000	0.47852	D	0.000206	D	0.97281	0.9111	H	0.97587	4.035	0.45718	D	0.998625	D	0.89917	1.0	D	0.87578	0.998	D	0.97760	1.0220	10	0.87932	D	0	.	12.237	0.54522	0.0:0.9139:0.0:0.0861	.	193	Q92764	KRT35_HUMAN	P	163;193	ENSP00000246639:R163P;ENSP00000377558:R193P	ENSP00000246639:R163P	R	-	2	0	KRT35	36889258	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.885000	0.69736	2.456000	0.83038	0.655000	0.94253	CGG		0.587	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_002280		79	76	0	0	0	0.01441	0	79	76		
KANSL1	284058	broad.mit.edu	37	17	44144914	44144914	+	Splice_Site	SNP	C	C	A	rs281865470		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:44144914C>A	ENST00000262419.6	-	5	2123		c.e5+1		KANSL1_ENST00000393476.3_Splice_Site|KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site|KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.?(1)									CTAAAACTTACGTGTTAATAA	0.413																																						uc002ikb.2		NaN																	1	Unknown(1)		endometrium(1)	skin(2)	2						c.e4+1		hypothetical protein LOC284058							116.0	103.0	107.0					17																	44144914		2203	4300	6503	SO:0001630	splice_region_variant	284058					MLL1 complex	protein binding	g.chr17:44144914C>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1652+1G>T	17.37:g.44144914C>A						KIAA1267_uc002ikc.2_Splice_Site_p.T551_splice|KIAA1267_uc002ikd.2_Splice_Site_p.T551_splice|KIAA1267_uc010dav.2_Splice_Site_p.T551_splice	p.T551_splice	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			4	1737	-		Melanoma(429;0.211)						A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Splice_Site	SNP	ENST00000262419.6	37	c.1652_splice	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521123	0.64747	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5344	0.75990	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1267	41500736	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.286000	0.65639	2.432000	0.82394	0.655000	0.94253	.		0.413	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1		NM_015443	Intron	43	48	1	0	6.17242e-35	0.01441	6.83272e-35	43	48		
RSAD1	55316	broad.mit.edu	37	17	48561095	48561095	+	Missense_Mutation	SNP	C	C	T	rs148371199		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:48561095C>T	ENST00000258955.2	+	7	1166	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	361					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCTGGGGCTACGCACCGATGT	0.537																																						uc002iqw.1		NaN																	0					0						c.(1081-1083)CGC>TGC		radical S-adenosyl methionine domain containing							89.0	89.0	89.0					17																	48561095		2203	4300	6503	SO:0001583	missense	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48561095C>T	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1081C>T	17.37:g.48561095C>T	ENSP00000258955:p.Arg361Cys					RSAD1_uc010wmq.1_Intron	p.R361C	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		7	1137	+	Breast(11;1.93e-18)		361					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	ENST00000258955.2	37	c.1081C>T	CCDS11569.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512810	0.27123	.	.	ENSG00000136444	ENST00000258955	T	0.66815	-0.23	5.62	5.62	0.85841	HemN, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	N	0.08118	0	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.72883	-0.4157	10	0.87932	D	0	-21.3044	13.3977	0.60863	0.1576:0.8424:0.0:0.0	.	361	Q9HA92	RSAD1_HUMAN	C	361	ENSP00000258955:R361C	ENSP00000258955:R361C	R	+	1	0	RSAD1	45916094	0.992000	0.36948	0.896000	0.35187	0.173000	0.22820	3.120000	0.50430	2.647000	0.89833	0.655000	0.94253	CGC		0.537	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1		NM_018346		12	53	0	0	0	0.003163	0	12	53		
MKS1	54903	broad.mit.edu	37	17	56283666	56283666	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:56283666C>G	ENST00000393119.2	-	17	1640	c.1566G>C	c.(1564-1566)caG>caC	p.Q522H	MKS1_ENST00000546108.1_Missense_Mutation_p.Q319H|MKS1_ENST00000337050.7_Intron|MKS1_ENST00000537529.2_Missense_Mutation_p.Q512H|MKS1_ENST00000313863.6_Missense_Mutation_p.R450T	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	522					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAATGGAACTCTGCTGGCTGA	0.562																																						uc002ivr.1		NaN																	0				ovary(1)	1						c.(1564-1566)CAG>CAC		Meckel syndrome type 1 protein isoform 1							141.0	147.0	145.0					17																	56283666		2038	4172	6210	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56283666C>G	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1566G>C	17.37:g.56283666C>G	ENSP00000376827:p.Gln522His					MKS1_uc010wnq.1_Missense_Mutation_p.Q319H|MKS1_uc002ivs.1_Missense_Mutation_p.R450T	p.Q522H	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			17	1641	-			522					B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.1566G>C	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.47|14.47	2.544303|2.544303	0.45280|0.45280	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000313863|ENST00000537529;ENST00000393119;ENST00000546108	.|T;T;T	.|0.75589	.|-0.53;-0.52;-0.95	5.09|5.09	1.98|1.98	0.26296|0.26296	.|.	.|0.110074	.|0.64402	.|D	.|0.000005	T|T	0.72463|0.72463	0.3463|0.3463	L|L	0.55481|0.55481	1.735|1.735	0.51012|0.51012	D|D	0.999905|0.999905	.|P	.|0.40302	.|0.712	.|P	.|0.46076	.|0.503	T|T	0.73186|0.73186	-0.4062|-0.4062	5|10	.|0.72032	.|D	.|0.01	-4.4482|-4.4482	9.9749|9.9749	0.41777|0.41777	0.0:0.7696:0.0:0.2304|0.0:0.7696:0.0:0.2304	.|.	.|522	.|Q9NXB0	.|MKS1_HUMAN	Q|H	451|512;522;319	.|ENSP00000442096:Q512H;ENSP00000376827:Q522H;ENSP00000443012:Q319H	.|ENSP00000376827:Q522H	E|Q	-|-	1|3	0|2	MKS1|MKS1	53638665|53638665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.439000|0.439000	0.31926|0.31926	1.024000|1.024000	0.30077|0.30077	0.736000|0.736000	0.32559|0.32559	0.555000|0.555000	0.69702|0.69702	GAG|CAG		0.562	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2		NM_017777		52	170	0	0	0	0.01441	0	52	170		
TBX2	6909	broad.mit.edu	37	17	59480480	59480480	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:59480480A>G	ENST00000240328.3	+	3	1003	c.722A>G	c.(721-723)gAc>gGc	p.D241G	RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	241					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						CGAGCCAACGACATCCTGAAG	0.632																																					GBM(3;187 253 11467 14965 23079)	uc010wox.1		NaN																	0					0						c.(721-723)GAC>GGC		T-box 2							124.0	96.0	106.0					17																	59480480		2203	4300	6503	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59480480A>G	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.722A>G	17.37:g.59480480A>G	ENSP00000240328:p.Asp241Gly					TBX2_uc002ize.2_Missense_Mutation_p.D231G|TBX2_uc002izg.2_Missense_Mutation_p.D87G	p.D241G	NM_005994	NP_005985	Q13207	TBX2_HUMAN			3	1003	+			241			T-box.		Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.722A>G	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908269	0.92107	.	.	ENSG00000121068	ENST00000240328;ENST00000424871	D	0.89415	-2.51	5.78	5.78	0.91487	p53-like transcription factor, DNA-binding (1);	0.048092	0.85682	D	0.000000	D	0.94262	0.8157	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.94848	0.8011	10	0.87932	D	0	.	15.2866	0.73833	1.0:0.0:0.0:0.0	.	241;178	Q13207;Q59FT1	TBX2_HUMAN;.	G	241;216	ENSP00000240328:D241G	ENSP00000240328:D241G	D	+	2	0	TBX2	56835262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.957000	0.93082	2.198000	0.70561	0.459000	0.35465	GAC		0.632	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2		NM_005994		32	80	0	0	0	0.003755	0	32	80		
STRADA	92335	broad.mit.edu	37	17	61787907	61787907	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:61787907G>A	ENST00000336174.6	-	8	637	c.525C>T	c.(523-525)atC>atT	p.I175I	STRADA_ENST00000579340.1_Silent_p.I117I|STRADA_ENST00000375840.4_Silent_p.I117I|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000447001.3_Silent_p.I131I|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000582137.1_Silent_p.I146I|STRADA_ENST00000392950.4_Silent_p.I138I|STRADA_ENST00000245865.5_Silent_p.I117I	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CCCCCTGCAGGATGTAAGCAA	0.502																																						uc002jbm.2		NaN																	0				ovary(1)	1						c.(523-525)ATC>ATT		STE20-related kinase adaptor alpha isoform 1							108.0	90.0	96.0					17																	61787907		2203	4300	6503	SO:0001819	synonymous_variant	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61787907G>A	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.525C>T	17.37:g.61787907G>A						STRADA_uc002jbn.2_Silent_p.I117I|STRADA_uc002jbo.2_Silent_p.I138I|STRADA_uc002jbp.2_Silent_p.I138I|STRADA_uc002jbq.2_Silent_p.I117I|STRADA_uc010wpq.1_Silent_p.I131I|STRADA_uc010wpr.1_Silent_p.I146I|STRADA_uc010ddw.2_Silent_p.I146I|STRADA_uc002jbr.2_Silent_p.I117I	p.I175I	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN			8	684	-			175			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Silent	SNP	ENST00000336174.6	37	c.525C>T	CCDS32703.1																																																																																				0.502	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1				15	43	0	0	0	0.006122	0	15	43		
BPTF	2186	broad.mit.edu	37	17	65942274	65942274	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:65942274C>T	ENST00000321892.4	+	23	7889	c.7828C>T	c.(7828-7830)Cac>Tac	p.H2610Y	BPTF_ENST00000306378.6_Missense_Mutation_p.H2484Y|BPTF_ENST00000335221.5_Intron|BPTF_ENST00000424123.3_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2610					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTGCAGACTCACCAGATTCA	0.493																																						uc002jgf.2		NaN																	0				ovary(2)|skin(2)	4						c.(7450-7452)CAC>TAC		bromodomain PHD finger transcription factor							94.0	85.0	88.0					17																	65942274		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65942274C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7828C>T	17.37:g.65942274C>T	ENSP00000315454:p.His2610Tyr					BPTF_uc002jge.2_Intron|BPTF_uc002jgg.2_Intron|BPTF_uc002jgh.2_5'Flank	p.H2484Y	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		21	7511	+	all_cancers(12;6e-11)		2610					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.7450C>T		.	.	.	.	.	.	.	.	.	.	C	14.71	2.615822	0.46631	.	.	ENSG00000171634	ENST00000306378;ENST00000321892	T;T	0.21932	1.98;1.98	5.79	5.79	0.91817	.	.	.	.	.	T	0.33990	0.0882	L	0.56769	1.78	0.80722	D	1	D	0.60575	0.988	P	0.50754	0.649	T	0.01042	-1.1471	9	0.25751	T	0.34	-5.3035	20.0279	0.97529	0.0:1.0:0.0:0.0	.	2484	Q12830-2	.	Y	2484;2610	ENSP00000307208:H2484Y;ENSP00000315454:H2610Y	ENSP00000307208:H2484Y	H	+	1	0	BPTF	63372736	1.000000	0.71417	0.999000	0.59377	0.626000	0.37791	6.584000	0.74057	2.735000	0.93741	0.650000	0.86243	CAC		0.493	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459		19	64	0	0	0	0.014323	0	19	64		
SRP68	6730	broad.mit.edu	37	17	74037019	74037019	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:74037019G>A	ENST00000307877.2	-	14	1726	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L	SRP68_ENST00000602720.1_Missense_Mutation_p.S183L|SRP68_ENST00000539137.1_Missense_Mutation_p.S484L|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Missense_Mutation_p.S421L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	522					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GCACTTCTCTGACCGCACTTG	0.582																																						uc002jqk.1		NaN																	0				ovary(1)	1						c.(1564-1566)TCA>TTA		signal recognition particle 68kDa							85.0	84.0	84.0					17																	74037019		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74037019G>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.1565C>T	17.37:g.74037019G>A	ENSP00000312066:p.Ser522Leu					SRP68_uc010wsu.1_Missense_Mutation_p.S421L|SRP68_uc002jql.1_Missense_Mutation_p.S484L|SRP68_uc002jqj.1_Missense_Mutation_p.S183L	p.S522L	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			14	1600	-			522					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.1565C>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360014	0.82353	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000542536;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	6.07	6.07	0.98685	.	0.104247	0.64402	D	0.000005	T	0.66742	0.2820	L	0.55213	1.73	0.58432	D	0.999999	B;B	0.13145	0.001;0.007	B;B	0.10450	0.002;0.005	T	0.60209	-0.7308	9	0.52906	T	0.07	-13.0655	20.6439	0.99570	0.0:0.0:1.0:0.0	.	484;522	G3V1U4;Q9UHB9	.;SRP68_HUMAN	L	262;484;183;522;491;421	.	ENSP00000307756:S491L	S	-	2	0	SRP68	71548614	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	9.318000	0.96334	2.884000	0.98904	0.655000	0.94253	TCA		0.582	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230		68	80	0	0	0	0.01441	0	68	80		
MC5R	4161	broad.mit.edu	37	18	13826367	13826367	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr18:13826367G>A	ENST00000324750.3	+	1	825	c.603G>A	c.(601-603)ctG>ctA	p.L201L	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	201					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTTCCTCCTGGTGTCTCTGT	0.587																																						uc010xaf.1		NaN																	0				ovary(3)|lung(2)|breast(1)	6						c.(601-603)CTG>CTA		melanocortin 5 receptor							555.0	463.0	494.0					18																	13826367		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826367G>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.603G>A	18.37:g.13826367G>A							p.L201L	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	603	+			201			Helical; Name=5; (Potential).		B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.603G>A	CCDS11868.1																																																																																				0.587	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1		NM_005913		174	519	0	0	0	0.01441	0	174	519		
OSBPL1A	114876	broad.mit.edu	37	18	21948276	21948276	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr18:21948276C>A	ENST00000319481.3	-	3	388	c.182G>T	c.(181-183)aGa>aTa	p.R61I	RP11-621L6.2_ENST00000579347.1_RNA|OSBPL1A_ENST00000399441.4_Missense_Mutation_p.R61I|OSBPL1A_ENST00000582618.1_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	61	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GACCACTTGTCTGTGTCCAAA	0.318																																						uc002kve.2		NaN																	0				ovary(4)	4						c.(181-183)AGA>ATA		oxysterol-binding protein-like 1A isoform B							100.0	97.0	98.0					18																	21948276		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21948276C>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.182G>T	18.37:g.21948276C>A	ENSP00000320291:p.Arg61Ile						p.R61I	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			3	356	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		61			ANK 1.		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.182G>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205433	0.39003	.	.	ENSG00000141447	ENST00000319481;ENST00000399441	T;T	0.62364	0.03;0.03	4.32	2.51	0.30379	Ankyrin repeat-containing domain (4);	0.390200	0.28290	N	0.015896	T	0.36193	0.0958	N	0.05177	-0.1	0.42855	D	0.99409	B	0.17465	0.022	B	0.24394	0.053	T	0.06356	-1.0831	10	0.35671	T	0.21	-13.886	5.9464	0.19221	0.0:0.656:0.1582:0.1858	.	61	Q9BXW6	OSBL1_HUMAN	I	61	ENSP00000320291:R61I;ENSP00000382370:R61I	ENSP00000320291:R61I	R	-	2	0	OSBPL1A	20202274	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	0.191000	0.17076	0.386000	0.24997	0.591000	0.81541	AGA		0.318	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1		NM_080597		38	77	1	0	2.14674e-31	0.01441	2.34369e-31	38	77		
FECH	2235	broad.mit.edu	37	18	55221549	55221549	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr18:55221549G>T	ENST00000262093.5	-	9	1171	c.1020C>A	c.(1018-1020)gaC>gaA	p.D340E	FECH_ENST00000382873.3_Missense_Mutation_p.D346E	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	340					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TTTCAATATGGTCACTGGTAA	0.453																																						uc002lgq.3		NaN																	0				central_nervous_system(1)	1						c.(1018-1020)GAC>GAA		ferrochelatase isoform b precursor							244.0	226.0	232.0					18																	55221549		2203	4300	6503	SO:0001583	missense	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55221549G>T	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.1020C>A	18.37:g.55221549G>T	ENSP00000262093:p.Asp340Glu					FECH_uc002lgp.3_Missense_Mutation_p.D346E|FECH_uc002lgr.3_Missense_Mutation_p.D198E	p.D340E	NM_000140	NP_000131	P22830	HEMH_HUMAN			9	1137	-		Colorectal(73;0.227)	340					A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	c.1020C>A	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857967	0.71834	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.99060	-5.38;-5.38	6.17	-4.76	0.03229	.	0.083170	0.85682	D	0.000000	D	0.98473	0.9491	L	0.49699	1.58	0.49915	D	0.999833	D;D	0.76494	0.999;0.997	D;D	0.80764	0.988;0.994	D	0.95739	0.8781	10	0.16420	T	0.52	-28.883	19.1709	0.93576	0.2265:0.0:0.7735:0.0	.	340;346	P22830;P22830-2	HEMH_HUMAN;.	E	340;346	ENSP00000262093:D340E;ENSP00000372326:D346E	ENSP00000262093:D340E	D	-	3	2	FECH	53372547	1.000000	0.71417	0.924000	0.36721	0.787000	0.44495	0.838000	0.27572	-0.901000	0.03891	-0.302000	0.09304	GAC		0.453	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1				31	180	1	0	2.61193e-14	0.009535	2.7385e-14	31	180		
MED16	10025	broad.mit.edu	37	19	886012	886012	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:886012C>T	ENST00000589119.1	-	4	636	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	MED16_ENST00000269814.4_Missense_Mutation_p.V213M|MED16_ENST00000325464.1_Missense_Mutation_p.V213M|MED16_ENST00000606828.1_Intron|MED16_ENST00000312090.6_Missense_Mutation_p.V213M|MED16_ENST00000395808.3_Missense_Mutation_p.V213M			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	213					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGGGCCACGCGGCCGCGC	0.716																																						uc002lqd.1		NaN																	0					0						c.(637-639)GTG>ATG		mediator complex subunit 16							15.0	17.0	16.0					19																	886012		2187	4216	6403	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:886012C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.637G>A	19.37:g.886012C>T	ENSP00000464810:p.Val213Met					MED16_uc010drw.1_Missense_Mutation_p.V38M|MED16_uc002lqe.2_Missense_Mutation_p.V202M|MED16_uc002lqf.2_Missense_Mutation_p.V202M|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.V202M|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron	p.V213M	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	788	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	213			WD 2.		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.637G>A	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503823	0.85176	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000424039	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	3.36	3.36	0.38483	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.074118	0.56097	D	0.000040	T	0.63153	0.2487	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.968;0.992;0.989;0.993	T	0.68055	-0.5510	10	0.72032	D	0.01	-0.2531	13.8895	0.63729	0.0:1.0:0.0:0.0	.	213;213;213;213	E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;MED16_HUMAN	M	213	ENSP00000325612:V213M;ENSP00000308528:V213M;ENSP00000379153:V213M;ENSP00000269814:V213M	ENSP00000269814:V213M	V	-	1	0	MED16	837012	1.000000	0.71417	0.898000	0.35279	0.953000	0.61014	7.020000	0.76419	1.736000	0.51660	0.462000	0.41574	GTG		0.716	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3		NM_005481		3	18	0	0	0	0.004672	0	3	18		
DOT1L	84444	broad.mit.edu	37	19	2191089	2191089	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:2191089T>A	ENST00000398665.3	+	5	379	c.343T>A	c.(343-345)Tac>Aac	p.Y115N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	115	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCAGGTCTACAACCACTC	0.642																																						uc002lvb.3		NaN																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(343-345)TAC>AAC		DOT1-like, histone H3 methyltransferase							54.0	62.0	59.0					19																	2191089		2141	4227	6368	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2191089T>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.343T>A	19.37:g.2191089T>A	ENSP00000381657:p.Tyr115Asn						p.Y115N	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	379	+		Hepatocellular(1079;0.137)	115					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.343T>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995568	0.74703	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	T;T	0.26957	1.7;1.7	4.75	4.75	0.60458	.	0.061993	0.64402	D	0.000002	T	0.55625	0.1932	M	0.87547	2.89	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.64516	-0.6389	10	0.87932	D	0	-9.8196	13.4934	0.61408	0.0:0.0:0.0:1.0	.	115	Q8TEK3-2	.	N	115;115;91	ENSP00000381657:Y115N;ENSP00000404284:Y91N	ENSP00000221482:Y115N	Y	+	1	0	DOT1L	2142089	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.450000	0.80656	1.781000	0.52344	0.454000	0.30748	TAC		0.642	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		13	10	0	0	0	0.013537	0	13	10		
SAFB2	9667	broad.mit.edu	37	19	5600272	5600272	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:5600272C>G	ENST00000252542.4	-	12	1824		c.e12-1		SAFB2_ENST00000591310.1_Splice_Site	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AATTACAGTTCTATTTAAAGA	0.413																																					Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2		NaN																	0					0						c.e12-1		scaffold attachment factor B2							112.0	101.0	105.0					19																	5600272		2203	4300	6503	SO:0001630	splice_region_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5600272C>G	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1560-1G>C	19.37:g.5600272C>G							p.K520_splice	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	12	1772	-								B4DKG3|Q8TB13	Splice_Site	SNP	ENST00000252542.4	37	c.1560_splice	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250559	0.59212	.	.	ENSG00000130254	ENST00000252542	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1954	0.86891	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SAFB2	5551272	1.000000	0.71417	0.508000	0.27688	0.718000	0.41266	3.144000	0.50616	2.282000	0.76494	0.655000	0.94253	.		0.413	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1		NM_014649	Intron	4	19	0	0	0	0.000602	0	4	19		
CCDC151	115948	broad.mit.edu	37	19	11537068	11537068	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:11537068C>G	ENST00000356392.4	-	7	946	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	CCDC151_ENST00000586836.1_Missense_Mutation_p.E96Q|CCDC151_ENST00000545100.1_Missense_Mutation_p.E233Q|CCDC151_ENST00000591179.1_Missense_Mutation_p.E227Q	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	287										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						AAGGTCTCCTCTAGGTACTGC	0.622																																						uc002mrs.2		NaN																	0				ovary(1)	1						c.(859-861)GAG>CAG		coiled-coil domain containing 151							43.0	44.0	44.0					19																	11537068		1973	4156	6129	SO:0001583	missense	115948							g.chr19:11537068C>G		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.859G>C	19.37:g.11537068C>G	ENSP00000348757:p.Glu287Gln					CCDC151_uc002mrr.2_Missense_Mutation_p.E222Q|CCDC151_uc010dxz.2_Missense_Mutation_p.E227Q	p.E287Q	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			7	1002	-			287			Potential.		B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.859G>C	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118701	0.56505	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.84589	-1.87;-1.87	4.46	4.46	0.54185	.	0.054498	0.64402	D	0.000001	D	0.91570	0.7337	M	0.81341	2.54	0.40113	D	0.976517	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.91687	0.5363	10	0.42905	T	0.14	-28.2951	12.9572	0.58434	0.0:1.0:0.0:0.0	.	287;287;267	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	Q	233;287;266	ENSP00000442987:E233Q;ENSP00000348757:E287Q	ENSP00000348757:E287Q	E	-	1	0	CCDC151	11398068	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	3.402000	0.52608	2.187000	0.69744	0.561000	0.74099	GAG		0.622	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1		NM_145045		8	33	0	0	0	0.006214	0	8	33		
WDR83OS	51398	broad.mit.edu	37	19	12779345	12779345	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:12779345C>T	ENST00000596731.1	-	3	2195	c.243G>A	c.(241-243)atG>atA	p.M81I	CTD-2192J16.24_ENST00000597961.1_Intron|MAN2B1_ENST00000221363.4_5'Flank|WDR83_ENST00000418543.3_5'UTR|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000222190.5_Missense_Mutation_p.M79I|WDR83_ENST00000242796.4_5'Flank|MAN2B1_ENST00000456935.2_5'Flank	NM_016145.3	NP_057229.1	Q9Y284	ASTER_HUMAN	WD repeat domain 83 opposite strand	81						integral component of membrane (GO:0016021)											TGAAGCTACTCATCATTTGCT	0.537																																						uc002mud.2		NaN																	0					0						c.(241-243)ATG>ATA		hypothetical protein LOC51398							100.0	76.0	84.0					19																	12779345		2203	4300	6503	SO:0001583	missense	51398					integral to membrane		g.chr19:12779345C>T	AF151898	CCDS12274.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000105583	ENSG00000105583			30203	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 56"""	C19orf56		10810093	Standard	NM_016145		Approved	PTD008	uc002mud.2	Q9Y284		ENST00000596731.1:c.243G>A	19.37:g.12779345C>T	ENSP00000468969:p.Met81Ile					MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank	p.M81I	NM_016145	NP_057229	Q9Y284	CS056_HUMAN			3	491	-			81			Helical; (Potential).		B2R4T8|Q9BVI3	Missense_Mutation	SNP	ENST00000596731.1	37	c.243G>A	CCDS12274.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882506	0.51908	.	.	ENSG00000105583	ENST00000222190	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.51975	0.1706	L	0.38838	1.175	0.80722	D	1	B	0.25206	0.12	B	0.21151	0.033	T	0.48115	-0.9063	9	0.11794	T;T	0.64;0.64	-14.5815	18.2558	0.90019	0.0:1.0:0.0:0.0	.	81	Q9Y284	CS056_HUMAN	I	81	.	ENSP00000222190:M81I;ENSP00000222190:M81I	M	-	3	0	C19orf56	12640345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.237000	0.78164	2.610000	0.88304	0.655000	0.94253	ATG		0.537	WDR83OS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462702.1		NM_016145		19	33	0	0	0	0.00278	0	19	33		
WDR83OS	51398	broad.mit.edu	37	19	12779348	12779348	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:12779348C>T	ENST00000596731.1	-	3	2192	c.240G>A	c.(238-240)atG>atA	p.M80I	CTD-2192J16.24_ENST00000597961.1_Intron|MAN2B1_ENST00000221363.4_5'Flank|WDR83_ENST00000418543.3_5'UTR|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000222190.5_Missense_Mutation_p.M78I|WDR83_ENST00000242796.4_5'Flank|MAN2B1_ENST00000456935.2_5'Flank	NM_016145.3	NP_057229.1	Q9Y284	ASTER_HUMAN	WD repeat domain 83 opposite strand	80						integral component of membrane (GO:0016021)											AGCTACTCATCATTTGCTTCG	0.542																																						uc002mud.2		NaN																	0					0						c.(238-240)ATG>ATA		hypothetical protein LOC51398							100.0	76.0	84.0					19																	12779348		2203	4300	6503	SO:0001583	missense	51398					integral to membrane		g.chr19:12779348C>T	AF151898	CCDS12274.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000105583	ENSG00000105583			30203	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 56"""	C19orf56		10810093	Standard	NM_016145		Approved	PTD008	uc002mud.2	Q9Y284		ENST00000596731.1:c.240G>A	19.37:g.12779348C>T	ENSP00000468969:p.Met80Ile					MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank	p.M80I	NM_016145	NP_057229	Q9Y284	CS056_HUMAN			3	488	-			80			Helical; (Potential).		B2R4T8|Q9BVI3	Missense_Mutation	SNP	ENST00000596731.1	37	c.240G>A	CCDS12274.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368980	0.24771	.	.	ENSG00000105583	ENST00000222190	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.39064	0.1064	N	0.12961	0.28	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.35674	-0.9779	9	0.02654	T;T	1;1	-14.5815	18.4717	0.90777	0.0:1.0:0.0:0.0	.	80	Q9Y284	CS056_HUMAN	I	80	.	ENSP00000222190:M80I;ENSP00000222190:M80I	M	-	3	0	C19orf56	12640348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.237000	0.78164	2.657000	0.90304	0.655000	0.94253	ATG		0.542	WDR83OS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462702.1		NM_016145		19	34	0	0	0	0.00333	0	19	34		
WDR83OS	51398	broad.mit.edu	37	19	12779429	12779429	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:12779429C>T	ENST00000596731.1	-	3	2111	c.159G>A	c.(157-159)ctG>ctA	p.L53L	CTD-2192J16.24_ENST00000597961.1_Intron|MAN2B1_ENST00000221363.4_5'Flank|WDR83_ENST00000418543.3_5'UTR|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000222190.5_Intron|WDR83_ENST00000242796.4_5'Flank|MAN2B1_ENST00000456935.2_5'Flank	NM_016145.3	NP_057229.1	Q9Y284	ASTER_HUMAN	WD repeat domain 83 opposite strand	53						integral component of membrane (GO:0016021)											CACACCACTTCAGCTAGGGAA	0.522																																						uc002mud.2		NaN																	0					0						c.(157-159)CTG>CTA		hypothetical protein LOC51398							83.0	66.0	72.0					19																	12779429		2203	4300	6503	SO:0001819	synonymous_variant	51398					integral to membrane		g.chr19:12779429C>T	AF151898	CCDS12274.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000105583	ENSG00000105583			30203	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 56"""	C19orf56		10810093	Standard	NM_016145		Approved	PTD008	uc002mud.2	Q9Y284		ENST00000596731.1:c.159G>A	19.37:g.12779429C>T						MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank	p.L53L	NM_016145	NP_057229	Q9Y284	CS056_HUMAN			3	407	-			53			Helical; (Potential).		B2R4T8|Q9BVI3	Silent	SNP	ENST00000596731.1	37	c.159G>A	CCDS12274.1																																																																																				0.522	WDR83OS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462702.1		NM_016145		15	37	0	0	0	0.007413	0	15	37		
IL27RA	9466	broad.mit.edu	37	19	14150702	14150702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:14150702C>T	ENST00000263379.2	+	4	639	c.514C>T	c.(514-516)Cag>Tag	p.Q172*		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	172	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCGAAGATGTCAGGAGGCGGC	0.587																																					Colon(164;1849 1896 4443 37792 47834)	uc002mxx.2		NaN																	0					0						c.(514-516)CAG>TAG		class I cytokine receptor precursor							96.0	93.0	94.0					19																	14150702		2203	4300	6503	SO:0001587	stop_gained	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14150702C>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.514C>T	19.37:g.14150702C>T	ENSP00000263379:p.Gln172*						p.Q172*	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			4	937	+			172			Extracellular (Potential).|Fibronectin type-III 1.		A0N0L1|O60624	Nonsense_Mutation	SNP	ENST00000263379.2	37	c.514C>T	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	38	6.977601	0.97975	.	.	ENSG00000104998	ENST00000263379	.	.	.	3.89	1.68	0.24146	.	1.376500	0.04931	N	0.456903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-12.2635	4.581	0.12259	0.2173:0.6681:0.0:0.1145	.	.	.	.	X	172	.	ENSP00000263379:Q172X	Q	+	1	0	IL27RA	14011702	0.004000	0.15560	0.005000	0.12908	0.845000	0.48019	-0.061000	0.11693	0.576000	0.29452	0.555000	0.69702	CAG		0.587	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1		NM_004843		34	230	0	0	0	0.013114	0	34	230		
SLC25A42	284439	broad.mit.edu	37	19	19216402	19216402	+	Silent	SNP	C	C	T	rs200500398	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:19216402C>T	ENST00000318596.7	+	5	397	c.246C>T	c.(244-246)ctC>ctT	p.L82L	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	82					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ACACCTACCTCAACGAGGGAT	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		10613	0.002		0.0	False		,,,				2504	0.0					uc002nlf.1		NaN																	0					0						c.(244-246)CTC>CTT		solute carrier family 25, member 42							82.0	62.0	68.0					19																	19216402		2203	4300	6503	SO:0001819	synonymous_variant	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19216402C>T		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.246C>T	19.37:g.19216402C>T						SLC25A42_uc010xqn.1_Silent_p.L134L	p.L82L	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		5	397	+			82			Solcar 1.		D2T2J5|O14553|O43378	Silent	SNP	ENST00000318596.7	37	c.246C>T	CCDS32966.1																																																																																				0.627	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1		NM_178526		18	37	0	0	0	0.012319	0	18	37		
SLC25A42	284439	broad.mit.edu	37	19	19217162	19217162	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:19217162C>T	ENST00000318596.7	+	6	616	c.465C>T	c.(463-465)gtC>gtT	p.V155V	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	155					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGGACCTGGTCAGAGCGCGGA	0.662																																						uc002nlf.1		NaN																	0					0						c.(463-465)GTC>GTT		solute carrier family 25, member 42							68.0	66.0	67.0					19																	19217162		2203	4300	6503	SO:0001819	synonymous_variant	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19217162C>T		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.465C>T	19.37:g.19217162C>T						SLC25A42_uc010xqn.1_Silent_p.V207V	p.V155V	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		6	616	+			155			Helical; Name=3; (Potential).|Solcar 2.		D2T2J5|O14553|O43378	Silent	SNP	ENST00000318596.7	37	c.465C>T	CCDS32966.1																																																																																				0.662	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1		NM_178526		25	62	0	0	0	0.003954	0	25	62		
PLAUR	5329	broad.mit.edu	37	19	44169569	44169569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:44169569G>T	ENST00000340093.3	-	3	438	c.209C>A	c.(208-210)tCa>tAa	p.S70*	AC006953.1_ENST00000580312.1_RNA|PLAUR_ENST00000221264.4_Nonsense_Mutation_p.S70*|PLAUR_ENST00000601723.1_Nonsense_Mutation_p.S70*|PLAUR_ENST00000339082.3_Nonsense_Mutation_p.S70*	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	70	UPAR/Ly6 1.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.S70*(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGTCTTCTCTGAGTGGGTACA	0.542																																						uc002oxf.1		NaN																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(208-210)TCA>TAA		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)						231.0	177.0	195.0					19																	44169569		2203	4300	6503	SO:0001587	stop_gained	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44169569G>T		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.209C>A	19.37:g.44169569G>T	ENSP00000339328:p.Ser70*					PLAUR_uc002oxd.1_Nonsense_Mutation_p.S70*|PLAUR_uc002oxe.1_Nonsense_Mutation_p.S65*|PLAUR_uc002oxg.1_Nonsense_Mutation_p.S70*	p.S70*	NM_002659	NP_002650	Q03405	UPAR_HUMAN			3	439	-		Prostate(69;0.0153)	70			UPAR/Ly6 1.		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Nonsense_Mutation	SNP	ENST00000340093.3	37	c.209C>A	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.686556	0.88639	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	.	.	.	3.84	1.62	0.23740	.	2.973750	0.01744	N	0.029558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.7657	6.2236	0.20695	0.0:0.2068:0.5796:0.2135	.	.	.	.	X	70	.	ENSP00000221264:S70X	S	-	2	0	PLAUR	48861409	0.000000	0.05858	0.008000	0.14137	0.575000	0.36095	0.397000	0.20883	0.296000	0.22592	0.282000	0.19409	TCA		0.542	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1		NM_002659		33	61	1	0	1.8453e-21	0.010771	1.96942e-21	33	61		
ZNF226	7769	broad.mit.edu	37	19	44681738	44681738	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:44681738A>G	ENST00000590089.1	+	7	2690	c.2323A>G	c.(2323-2325)Aga>Gga	p.R775G	ZNF226_ENST00000454662.2_Missense_Mutation_p.R775G|ZNF226_ENST00000337433.5_Missense_Mutation_p.R775G|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	775					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)						Prostate(69;0.0352)|all_neural(266;0.202)				AGTTCATCACAGAATCCATGT	0.368																																					Pancreas(115;581 1665 13228 19278 50070)	uc002oyp.2		NaN																	0					0						c.(2323-2325)AGA>GGA		zinc finger protein 226 isoform a							65.0	69.0	68.0					19																	44681738		2067	4227	6294	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44681738A>G	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.2323A>G	19.37:g.44681738A>G	ENSP00000465121:p.Arg775Gly					ZNF226_uc002oyq.2_Missense_Mutation_p.R658G|ZNF226_uc002oyr.2_Missense_Mutation_p.R658G|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.R775G|ZNF226_uc002oyt.2_Missense_Mutation_p.R775G	p.R775G	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN			6	2467	+		Prostate(69;0.0352)|all_neural(266;0.202)	775			C2H2-type 19.		Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.2323A>G	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.925111	0.34002	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.09911	2.93;2.93	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19725	0.0474	M	0.93016	3.37	0.24838	N	0.992483	P	0.45176	0.852	B	0.38378	0.272	T	0.37663	-0.9696	9	0.72032	D	0.01	.	7.6618	0.28407	0.8971:0.0:0.1029:0.0	.	775	Q9NYT6	ZN226_HUMAN	G	775	ENSP00000336719:R775G;ENSP00000393265:R775G	ENSP00000336719:R775G	R	+	1	2	ZNF226	49373578	0.021000	0.18746	0.348000	0.25681	0.981000	0.71138	0.989000	0.29629	1.807000	0.52817	0.460000	0.39030	AGA		0.368	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1				5	56	0	0	0	0.000602	0	5	56		
SPHK2	56848	broad.mit.edu	37	19	49132307	49132307	+	Silent	SNP	A	A	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:49132307A>C	ENST00000245222.4	+	7	1608	c.1242A>C	c.(1240-1242)tcA>tcC	p.S414S	SPHK2_ENST00000340932.3_Silent_p.S376S|SPHK2_ENST00000443164.1_Silent_p.S476S|SPHK2_ENST00000598088.1_Silent_p.S414S|SPHK2_ENST00000599029.1_Silent_p.S378S|SPHK2_ENST00000600537.1_Silent_p.S355S|SPHK2_ENST00000599748.1_Silent_p.S378S	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	414					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		tggcccactcacccctgcatc	0.677																																						uc002pjr.2		NaN																	0				lung(1)	1						c.(1240-1242)TCA>TCC		sphingosine kinase 2							25.0	26.0	26.0					19																	49132307		2202	4298	6500	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132307A>C	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1242A>C	19.37:g.49132307A>C						SPHK2_uc010xzt.1_Silent_p.S355S|SPHK2_uc002pjs.2_Silent_p.S414S|SPHK2_uc002pjt.2_Silent_p.S208S|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.S378S|SPHK2_uc002pjw.2_Silent_p.S476S	p.S414S	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	1608	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	414					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.1242A>C	CCDS12727.1																																																																																				0.677	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1				5	20	0	0	0	0.001984	0	5	20		
HSD17B14	51171	broad.mit.edu	37	19	49334931	49334931	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:49334931C>T	ENST00000263278.4	-	5	629	c.363G>A	c.(361-363)ttG>ttA	p.L121L	HSD17B14_ENST00000599157.1_Intron	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	121					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		TCACCTTGGTCAAGGTGTACG	0.592																																						uc002pkv.1		NaN																	0					0						c.(361-363)TTG>TTA		dehydrogenase/reductase (SDR family) member 10							58.0	60.0	59.0					19																	49334931		2203	4300	6503	SO:0001819	synonymous_variant	51171				steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr19:49334931C>T	AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.363G>A	19.37:g.49334931C>T						HSD17B14_uc010emk.1_Silent_p.L121L	p.L121L	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)	5	629	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	121					Q9UKU3	Silent	SNP	ENST00000263278.4	37	c.363G>A	CCDS12736.1																																																																																				0.592	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1		NM_016246		36	95	0	0	0	0.006999	0	36	95		
ZNF615	284370	broad.mit.edu	37	19	52496893	52496893	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:52496893G>C	ENST00000602063.1	-	6	1785	c.1436C>G	c.(1435-1437)aCt>aGt	p.T479S	ZNF615_ENST00000391795.3_Missense_Mutation_p.T484S|ZNF615_ENST00000594083.1_Missense_Mutation_p.T490S|ZNF615_ENST00000376716.5_Missense_Mutation_p.T479S|ZNF615_ENST00000598071.1_Missense_Mutation_p.T490S			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	479					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTCTCTGCAGTATGAGTTCG	0.438																																						uc002pye.1		NaN																	0				ovary(4)|skin(1)	5						c.(1435-1437)ACT>AGT		zinc finger protein 615							96.0	79.0	85.0					19																	52496893		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496893G>C	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1436C>G	19.37:g.52496893G>C	ENSP00000473089:p.Thr479Ser					ZNF615_uc002pyf.1_Missense_Mutation_p.T490S|ZNF615_uc002pyg.1_Missense_Mutation_p.T371S|ZNF615_uc002pyh.1_Missense_Mutation_p.T490S|ZNF615_uc010epi.1_Missense_Mutation_p.T486S|ZNF615_uc010ydg.1_Missense_Mutation_p.T484S	p.T479S	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1728	-		all_neural(266;0.117)	479					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1436C>G	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916032	0.52546	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.24151	1.87;1.87	2.86	2.86	0.33363	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35219	0.0924	L	0.38838	1.175	0.26918	N	0.96674	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;P;P;D	0.65140	0.932;0.889;0.889;0.932	T	0.06232	-1.0838	9	0.59425	D	0.04	.	8.6534	0.34049	0.0:0.0:0.7713:0.2287	.	484;486;490;479	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	S	479;489;484;489	ENSP00000365906:T479S;ENSP00000375672:T484S	ENSP00000347019:T489S	T	-	2	0	ZNF615	57188705	0.816000	0.29132	0.985000	0.45067	0.940000	0.58332	1.089000	0.30890	1.583000	0.49898	0.491000	0.48974	ACT		0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1		NM_198480		3	20	0	0	0	0.004672	0	3	20		
NLRP4	147945	broad.mit.edu	37	19	56369402	56369402	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:56369402C>T	ENST00000301295.6	+	3	1065	c.643C>T	c.(643-645)Cct>Tct	p.P215S	NLRP4_ENST00000587891.1_Missense_Mutation_p.P140S|NLRP4_ENST00000346986.5_Missense_Mutation_p.P215S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	215	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCCGCTGCTCCTATAACAGA	0.537																																						uc002qmd.3		NaN																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(643-645)CCT>TCT		NLR family, pyrin domain containing 4							82.0	83.0	83.0					19																	56369402		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369402C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.643C>T	19.37:g.56369402C>T	ENSP00000301295:p.Pro215Ser					NLRP4_uc002qmf.2_Missense_Mutation_p.P140S|NLRP4_uc010etf.2_Missense_Mutation_p.P46S	p.P215S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1065	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	215			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.643C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032822	0.54790	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78707	-1.2;-1.2	4.1	4.1	0.47936	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.81182	0.4769	L	0.38649	1.16	0.09310	N	1	D;D;D	0.89917	0.959;1.0;1.0	P;D;D	0.97110	0.835;1.0;1.0	T	0.68934	-0.5278	9	0.51188	T	0.08	.	9.4445	0.38688	0.2118:0.7882:0.0:0.0	.	215;140;215	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	S	215	ENSP00000301295:P215S;ENSP00000344787:P215S	ENSP00000301295:P215S	P	+	1	0	NLRP4	61061214	0.016000	0.18221	0.048000	0.18961	0.013000	0.08279	1.250000	0.32850	2.278000	0.76064	0.655000	0.94253	CCT		0.537	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444		34	80	0	0	0	0.005524	0	34	80		
ZNF776	284309	broad.mit.edu	37	19	58265972	58265972	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:58265972G>C	ENST00000317178.5	+	3	1737	c.1474G>C	c.(1474-1476)Gaa>Caa	p.E492Q	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TGAGTGTGGAGAATGTGGAAA	0.428																																						uc002qpx.2		NaN																	0				ovary(1)	1						c.(1474-1476)GAA>CAA		zinc finger protein 776							111.0	98.0	102.0					19																	58265972		2203	4300	6503	SO:0001583	missense	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58265972G>C	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1474G>C	19.37:g.58265972G>C	ENSP00000321812:p.Glu492Gln					ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.E492Q	p.E492Q	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1697	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	492			C2H2-type 11.		Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.1474G>C	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772706	0.31411	.	.	ENSG00000152443	ENST00000317178	T	0.18502	2.21	1.67	-1.66	0.08265	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10208	0.0250	N	0.13098	0.295	0.09310	N	1	P;P	0.49253	0.921;0.85	B;B	0.44085	0.336;0.44	T	0.34925	-0.9809	9	0.30078	T	0.28	.	9.5801	0.39481	0.0:0.4001:0.5999:0.0	.	492;492	Q68DI1;B4DSC6	ZN776_HUMAN;.	Q	492	ENSP00000321812:E492Q	ENSP00000321812:E492Q	E	+	1	0	ZNF776	62957784	0.000000	0.05858	0.002000	0.10522	0.639000	0.38242	-1.031000	0.03578	0.034000	0.15491	0.313000	0.20887	GAA		0.428	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2		NM_173632		29	68	0	0	0	0.010818	0	29	68		
APOB	338	broad.mit.edu	37	2	21258577	21258577	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:21258577G>A	ENST00000233242.1	-	7	824	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	APOB_ENST00000399256.4_Missense_Mutation_p.R233C	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	233	Heparin-binding.|Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				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)					GACAAGGGGCGGGTCTATGAA	0.498																																						uc002red.2		NaN																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(697-699)CGC>TGC		apolipoprotein B precursor	Atorvastatin(DB01076)						80.0	76.0	77.0					2																	21258577		2203	4300	6503	SO:0001583	missense	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.chr2:21258577G>A	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.697C>T	2.37:g.21258577G>A	ENSP00000233242:p.Arg233Cys						p.R233C	NM_000384	NP_000375	P04114	APOB_HUMAN			7	825	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		233			Vitellogenin.|Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.697C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925891	0.34002	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.44083	0.93;0.93	5.73	2.8	0.32819	Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (3);Vitellinogen, beta-sheet N-terminal (1);	1.123430	0.06659	N	0.764138	T	0.54775	0.1879	L	0.60455	1.87	0.09310	N	1	D	0.76494	0.999	P	0.57679	0.825	T	0.40794	-0.9544	10	0.39692	T	0.17	.	10.2516	0.43372	0.0:0.2978:0.5138:0.1884	.	233	P04114	APOB_HUMAN	C	233	ENSP00000233242:R233C;ENSP00000382200:R233C	ENSP00000233242:R233C	R	-	1	0	APOB	21112082	0.005000	0.15991	0.686000	0.30086	0.384000	0.30261	0.923000	0.28757	1.560000	0.49568	0.655000	0.94253	CGC		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				23	29	0	0	0	0.00632	0	23	29		
DHX57	90957	broad.mit.edu	37	2	39085813	39085813	+	Missense_Mutation	SNP	C	C	G	rs202217345		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:39085813C>G	ENST00000295373.6	-	6	1703	c.1577G>C	c.(1576-1578)cGa>cCa	p.R526P	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	526							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTGTTTCATTCGGAACTGCTT	0.408																																					Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(1576-1578)CGA>CCA		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							213.0	199.0	204.0					2																	39085813		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39085813C>G	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1577G>C	2.37:g.39085813C>G	ENSP00000295373:p.Arg526Pro					DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.R526P	p.R526P	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			6	1676	-		all_hematologic(82;0.248)	526					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.1577G>C	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351043	0.61183	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.10005	2.92	5.7	-1.34	0.09143	.	0.643093	0.13355	N	0.394072	T	0.11965	0.0291	L	0.27053	0.805	0.20821	N	0.999842	P;P	0.52577	0.954;0.586	P;B	0.51615	0.675;0.211	T	0.23691	-1.0181	10	0.54805	T	0.06	.	11.2425	0.48977	0.0:0.5387:0.0:0.4613	.	526;526	Q6P158-2;Q6P158	.;DHX57_HUMAN	P	526;424	ENSP00000295373:R526P	ENSP00000295373:R526P	R	-	2	0	DHX57	38939317	0.020000	0.18652	0.963000	0.40424	0.997000	0.91878	0.131000	0.15870	-0.156000	0.11079	0.655000	0.94253	CGA		0.408	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2		NM_145646		63	295	0	0	0	0.01441	0	63	295		
FOXN2	3344	broad.mit.edu	37	2	48602364	48602364	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:48602364G>A	ENST00000340553.3	+	7	1339	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	360					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TTATGAAGATGATCCTCTTGG	0.413																																						uc002rwh.1		NaN																	0					0						c.(1078-1080)GAT>AAT		T-cell leukemia virus enhancer factor							102.0	98.0	100.0					2																	48602364		2203	4300	6503	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48602364G>A		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.1078G>A	2.37:g.48602364G>A	ENSP00000343633:p.Asp360Asn						p.D360N	NM_002158	NP_002149	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		7	1393	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	360					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.1078G>A	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166551	0.78339	.	.	ENSG00000170802	ENST00000304367;ENST00000340553	D	0.95690	-3.78	4.69	4.69	0.59074	.	0.054971	0.64402	D	0.000001	D	0.93190	0.7831	L	0.46157	1.445	0.41070	D	0.985445	B	0.24618	0.107	B	0.19946	0.027	D	0.90939	0.4796	10	0.42905	T	0.14	.	18.2506	0.90002	0.0:0.0:1.0:0.0	.	360	P32314	FOXN2_HUMAN	N	269;360	ENSP00000343633:D360N	ENSP00000305685:D269N	D	+	1	0	FOXN2	48455868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.377000	0.73145	2.603000	0.88011	0.650000	0.86243	GAT		0.413	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3		NM_002158		21	74	0	0	0	0.014323	0	21	74		
GTF2A1L	11036	broad.mit.edu	37	2	48874053	48874053	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:48874053C>G	ENST00000403751.3	+	6	887	c.850C>G	c.(850-852)Cat>Gat	p.H284D	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.H250D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.H988D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.H988D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.H988D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.H941D|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.H988D|LHCGR_ENST00000420913.3_Intron	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	284					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CACAAGCCCTCATGGGGCTCT	0.438																																						uc010yol.1		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2821-2823)CAT>GAT		stonin 1							67.0	66.0	66.0					2																	48874053		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48874053C>G	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.850C>G	2.37:g.48874053C>G	ENSP00000384597:p.His284Asp					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.H988D|GTF2A1L_uc002rws.1_Missense_Mutation_p.H284D|GTF2A1L_uc010yom.1_Missense_Mutation_p.H250D|GTF2A1L_uc002rwt.2_Missense_Mutation_p.H284D	p.H941D	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2868	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	941					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2821C>G	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	4.225	0.040584	0.08196	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	4.69	4.69	0.59074	.	1.083040	0.07135	N	0.846357	T	0.32556	0.0833	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.22800	0.075;0.005;0.022;0.026;0.01	B;B;B;B;B	0.19666	0.023;0.003;0.018;0.026;0.011	T	0.02269	-1.1185	10	0.13853	T	0.58	.	14.4501	0.67379	0.0:1.0:0.0:0.0	.	250;941;988;284;988	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	D	988;988;988;988;941;283;293;250;284	ENSP00000385499:H988D;ENSP00000385701:H988D;ENSP00000378236:H988D;ENSP00000311493:H988D;ENSP00000378234:H941D;ENSP00000396702:H293D;ENSP00000387896:H250D;ENSP00000384597:H284D	ENSP00000384597:H284D	H	+	1	0	STON1-GTF2A1L;GTF2A1L	48727557	0.031000	0.19500	0.005000	0.12908	0.010000	0.07245	1.930000	0.40124	2.412000	0.81896	0.591000	0.81541	CAT		0.438	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4		NM_006872		14	55	0	0	0	0.00499	0	14	55		
LHCGR	3973	broad.mit.edu	37	2	48925887	48925887	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:48925887T>C	ENST00000294954.7	-	9	754	c.733A>G	c.(733-735)Att>Gtt	p.I245V	LHCGR_ENST00000405626.1_Missense_Mutation_p.I245V|LHCGR_ENST00000403273.1_Missense_Mutation_p.I245V|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.I245V	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	245					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCCTCTGAATGGACTCTAGG	0.413																																						uc002rwu.3		NaN																	0				ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(733-735)ATT>GTT		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						75.0	79.0	78.0					2																	48925887		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48925887T>C		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.733A>G	2.37:g.48925887T>C	ENSP00000294954:p.Ile245Val					GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	p.I245V	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	803	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	245			Extracellular (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.733A>G	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	T	4.332	0.061031	0.08339	.	.	ENSG00000138039	ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.87	4.73	0.59995	.	0.105887	0.64402	D	0.000003	T	0.72020	0.3409	N	0.02247	-0.625	0.80722	D	1	D	0.57899	0.981	P	0.56788	0.806	T	0.72004	-0.4421	9	.	.	.	.	10.6607	0.45700	0.0:0.074:0.0:0.926	.	245	P22888	LSHR_HUMAN	V	245	ENSP00000294954:I245V;ENSP00000386033:I245V;ENSP00000385847:I245V;ENSP00000385406:I245V	.	I	-	1	0	LHCGR	48779391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.129000	0.31381	2.242000	0.73789	0.528000	0.53228	ATT		0.413	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4		NM_000233.3		29	45	0	0	0	0.003271	0	29	45		
ELMOD3	84173	broad.mit.edu	37	2	85604471	85604471	+	Silent	SNP	G	G	A	rs202233755	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:85604471G>A	ENST00000409890.2	+	11	1279	c.612G>A	c.(610-612)gcG>gcA	p.A204A	ELMOD3_ENST00000428955.2_Silent_p.A204A|ELMOD3_ENST00000315658.7_Silent_p.A204A|ELMOD3_ENST00000409013.3_Silent_p.A204A|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Silent_p.A204A|ELMOD3_ENST00000393852.4_Silent_p.A204A			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	204	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TTACAGGAGCGAATCCAGCCA	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		20347	0.002		0.0	False		,,,				2504	0.0					uc002spf.3		NaN																	0				ovary(2)	2						c.(610-612)GCG>GCA		ELMO/CED-12 domain containing 3 isoform b							86.0	70.0	75.0					2																	85604471		2203	4300	6503	SO:0001819	synonymous_variant	84173				phagocytosis	cytoskeleton		g.chr2:85604471G>A	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.612G>A	2.37:g.85604471G>A						ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Silent_p.A204A|ELMOD3_uc002sph.3_Silent_p.A204A|ELMOD3_uc010ysn.1_Silent_p.A204A|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	p.A204A	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN			12	1277	+			204			ELMO.		B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Silent	SNP	ENST00000409890.2	37	c.612G>A	CCDS46352.1																																																																																				0.587	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1		NM_032213		12	61	0	0	0	0.00245	0	12	61		
UGGT1	56886	broad.mit.edu	37	2	128945037	128945037	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:128945037G>A	ENST00000259253.6	+	40	4538	c.4491G>A	c.(4489-4491)atG>atA	p.M1497I	UGGT1_ENST00000375990.3_Missense_Mutation_p.M1473I|UGGT1_ENST00000465836.1_3'UTR	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1497	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATAATCCGATGACCAAAGAGC	0.463																																						uc002tps.2		NaN																	0				ovary(1)	1						c.(4489-4491)ATG>ATA		UDP-glucose ceramide glucosyltransferase-like 1							58.0	55.0	56.0					2																	128945037		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128945037G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4491G>A	2.37:g.128945037G>A	ENSP00000259253:p.Met1497Ile					UGGT1_uc002tpr.2_Missense_Mutation_p.M1473I	p.M1497I	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			40	4669	+			1497			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.4491G>A	CCDS2154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.272838|4.272838	0.80580|0.80580	.|.	.|.	ENSG00000136731|ENSG00000136731	ENST00000418197|ENST00000375990;ENST00000259253	.|T;T	.|0.20598	.|2.06;2.06	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.080263	.|0.85682	.|D	.|0.000000	T|T	0.25306|0.25306	0.0615|0.0615	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.24618	.|0.107	.|B	.|0.28784	.|0.094	T|T	0.02661|0.02661	-1.1127|-1.1127	5|9	.|.	.|.	.|.	.|.	19.9142|19.9142	0.97043|0.97043	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1497	.|Q9NYU2	.|UGGG1_HUMAN	N|I	73|1473;1497	.|ENSP00000365158:M1473I;ENSP00000259253:M1497I	.|.	D|M	+|+	1|3	0|0	UGGT1|UGGT1	128661507|128661507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.931000|4.931000	0.63469|0.63469	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.463	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2		NM_020120		10	80	0	0	0	0.010729	0	10	80		
MCM6	4175	broad.mit.edu	37	2	136603937	136603937	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:136603937C>T	ENST00000264156.2	-	15	2139	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	693					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TGATCCCGTTCACAGGAGCAG	0.443																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NaN																	0					0						c.(2077-2079)GTG>GTA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						152.0	147.0	149.0					2																	136603937		2203	4300	6503	SO:0001819	synonymous_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136603937C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.2079G>A	2.37:g.136603937C>T							p.V693V	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	15	2155	-			693					B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	37	c.2079G>A	CCDS2179.1																																																																																				0.443	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1		NM_005915		154	146	0	0	0	0.01441	0	154	146		
SCN9A	6335	broad.mit.edu	37	2	167056103	167056103	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:167056103C>T	ENST00000409435.1	-	26	5045	c.5046G>A	c.(5044-5046)gaG>gaA	p.E1682E	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.E1683E|SCN9A_ENST00000409672.1_Silent_p.E1671E|SCN9A_ENST00000375387.4_Silent_p.E1683E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1682					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCCAAAGGTCTCAAAATTGA	0.428																																						uc010fpl.2		NaN																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(5011-5013)GAG>GAA		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						176.0	180.0	179.0					2																	167056103		2203	4300	6503	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056103C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5046G>A	2.37:g.167056103C>T						uc002udp.2_Intron	p.E1671E	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			27	5354	-			1682			IV.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.5013G>A	CCDS46441.1																																																																																				0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1		NM_002977		61	114	0	0	0	0.01441	0	61	114		
FRZB	2487	broad.mit.edu	37	2	183730874	183730874	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:183730874C>T	ENST00000295113.4	-	1	1016	c.407G>A	c.(406-408)tGc>tAc	p.C136Y		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	136	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CAGCTCCTCGCAGGCCAGGTT	0.637																																						uc002upa.1		NaN																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(406-408)TGC>TAC		frizzled-related protein precursor							34.0	33.0	33.0					2																	183730874		2203	4300	6503	SO:0001583	missense	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183730874C>T	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.407G>A	2.37:g.183730874C>T	ENSP00000295113:p.Cys136Tyr						p.C136Y	NM_001463	NP_001454	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		1	625	-			136			FZ.		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	c.407G>A	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076330	0.94000	.	.	ENSG00000162998	ENST00000295113	D	0.93547	-3.24	5.04	5.04	0.67666	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.97977	0.9334	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98611	1.0663	10	0.54805	T	0.06	.	18.5725	0.91140	0.0:1.0:0.0:0.0	.	136	Q92765	SFRP3_HUMAN	Y	136	ENSP00000295113:C136Y	ENSP00000295113:C136Y	C	-	2	0	FRZB	183439119	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.564000	0.82326	2.611000	0.88343	0.462000	0.41574	TGC		0.637	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1		NM_001463		9	23	0	0	0	0.006214	0	9	23		
ANKAR	150709	broad.mit.edu	37	2	190554293	190554293	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:190554293C>G	ENST00000520309.1	+	3	730	c.642C>G	c.(640-642)atC>atG	p.I214M	ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000438402.2_Missense_Mutation_p.I214M|ANKAR_ENST00000313581.4_Missense_Mutation_p.I214M|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.I143M	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	214						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTAATGAAATCTATGATGAAG	0.303																																						uc002uqw.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(427-429)ATC>ATG		ankyrin and armadillo repeat containing							89.0	98.0	95.0					2																	190554293		2203	4296	6499	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190554293C>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.642C>G	2.37:g.190554293C>G	ENSP00000427882:p.Ile214Met					ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Missense_Mutation_p.I214M	p.I143M	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		2	429	+			214					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.429C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.794059	0.50102	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575	T;T;T;T	0.56941	0.46;0.46;0.43;0.47	5.97	0.289	0.15723	.	0.000000	0.56097	D	0.000021	T	0.62514	0.2434	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.60796	-0.7192	10	0.87932	D	0	-0.4831	7.8459	0.29424	0.4247:0.4383:0.0:0.137	.	214	Q7Z5J8	ANKAR_HUMAN	M	214;214;214;143	ENSP00000427882:I214M;ENSP00000313513:I214M;ENSP00000397243:I214M;ENSP00000393043:I143M	ENSP00000313513:I214M	I	+	3	3	ANKAR	190262538	0.990000	0.36364	0.998000	0.56505	0.927000	0.56198	-0.009000	0.12765	0.106000	0.17784	-0.897000	0.02905	ATC		0.303	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3		NM_144708		28	85	0	0	0	0.003271	0	28	85		
SATB2	23314	broad.mit.edu	37	2	200173580	200173580	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:200173580G>A	ENST00000417098.1	-	10	2459	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L	SATB2_ENST00000428695.1_Missense_Mutation_p.P430L|SATB2_ENST00000443023.1_Missense_Mutation_p.P489L|SATB2_ENST00000260926.5_Missense_Mutation_p.P548L|SATB2_ENST00000457245.1_Missense_Mutation_p.P548L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	548					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCATGCTGGGGAAGGTTCAG	0.587																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NaN																	0				ovary(1)	1						c.(1642-1644)CCC>CTC		SATB homeobox 2							165.0	131.0	143.0					2																	200173580		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200173580G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1643C>T	2.37:g.200173580G>A	ENSP00000401112:p.Pro548Leu					SATB2_uc010fsq.1_Missense_Mutation_p.P430L|SATB2_uc002uuz.1_Missense_Mutation_p.P548L|SATB2_uc002uva.1_Missense_Mutation_p.P548L	p.P548L	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			10	2460	-			548			CUT 2.		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1643C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	36	5.644326	0.96704	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.55760	0.51;0.5;0.51;0.64;0.51	5.35	5.35	0.76521	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.91635	0.999;0.81	T	0.71896	-0.4454	10	0.87932	D	0	-17.4566	19.6142	0.95626	0.0:0.0:1.0:0.0	.	430;548	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	L	548;489;548;430;548	ENSP00000401112:P548L;ENSP00000388764:P489L;ENSP00000260926:P548L;ENSP00000388581:P430L;ENSP00000405420:P548L	ENSP00000260926:P548L	P	-	2	0	SATB2	199881825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	CCC		0.587	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1		NM_015265		39	97	0	0	0	0.007835	0	39	97		
NOP58	51602	broad.mit.edu	37	2	203152401	203152401	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:203152401G>T	ENST00000264279.5	+	6	679	c.453G>T	c.(451-453)ttG>ttT	p.L151F		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	151					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GATATAGATTGAAGTTTAGCG	0.348																																						uc002uzb.2		NaN																	0					0						c.(451-453)TTG>TTT		NOP58 ribonucleoprotein homolog							166.0	161.0	163.0					2																	203152401		2203	4300	6503	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203152401G>T		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.453G>T	2.37:g.203152401G>T	ENSP00000264279:p.Leu151Phe						p.L151F	NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN			6	603	+			151					Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.453G>T	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675970	0.67928	.	.	ENSG00000055044	ENST00000264279	T	0.69561	-0.41	5.45	2.69	0.31865	.	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	H	0.97186	3.955	0.58432	D	0.999999	D	0.67145	0.996	D	0.70487	0.969	D	0.87559	0.2470	10	0.87932	D	0	-14.0755	11.4344	0.50060	0.1844:0.0:0.8156:0.0	.	151	Q9Y2X3	NOP58_HUMAN	F	151	ENSP00000264279:L151F	ENSP00000264279:L151F	L	+	3	2	NOP58	202860646	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	5.143000	0.64826	0.371000	0.24564	0.591000	0.81541	TTG		0.348	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2		NM_015934		37	119	1	0	1.51926e-22	0.01441	1.62875e-22	37	119		
MARCH4	57574	broad.mit.edu	37	2	217124125	217124125	+	Silent	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:217124125G>T	ENST00000273067.4	-	4	2909	c.1143C>A	c.(1141-1143)atC>atA	p.I381I	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	381						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGATGTGCAGGATGGTATAAG	0.627																																						uc002vgb.2		NaN																	0				ovary(1)	1						c.(1141-1143)ATC>ATA		membrane-associated ring finger (C3HC4) 4							79.0	78.0	78.0					2																	217124125		2203	4300	6503	SO:0001819	synonymous_variant	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124125G>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1143C>A	2.37:g.217124125G>T							p.I381I	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2910	-		Renal(323;0.0854)	381					Q4KMN7|Q86WR8	Silent	SNP	ENST00000273067.4	37	c.1143C>A	CCDS33376.1																																																																																				0.627	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2		NM_020814		33	41	1	0	6.29468e-14	0.004878	6.57077e-14	33	41		
WNT6	7475	broad.mit.edu	37	2	219736442	219736442	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:219736442G>A	ENST00000233948.3	+	3	754	c.537G>A	c.(535-537)ggG>ggA	p.G179G	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	179					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGACTTCGGGGACGAGAAGT	0.731																																						uc002vjc.1		NaN																	0				ovary(2)|skin(1)	3						c.(535-537)GGG>GGA		wingless-type MMTV integration site family,							23.0	26.0	25.0					2																	219736442		2201	4300	6501	SO:0001819	synonymous_variant	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219736442G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.537G>A	2.37:g.219736442G>A							p.G179G	NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	752	+		Renal(207;0.0474)	179					Q9H1J6|Q9H238	Silent	SNP	ENST00000233948.3	37	c.537G>A	CCDS2425.1																																																																																				0.731	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2		NM_006522		5	12	0	0	0	0.001984	0	5	12		
CCDC108	255101	broad.mit.edu	37	2	219886644	219886644	+	Silent	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:219886644T>C	ENST00000341552.5	-	18	3071	c.2988A>G	c.(2986-2988)gaA>gaG	p.E996E	CCDC108_ENST00000453220.1_Silent_p.E996E|CCDC108_ENST00000441968.1_Silent_p.E996E	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	996						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGCTCCTTTTCCTTTGCCT	0.597																																						uc002vjl.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2986-2988)GAA>GAG		coiled-coil domain containing 108 isoform 1							96.0	102.0	100.0					2																	219886644		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219886644T>C	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2988A>G	2.37:g.219886644T>C						CCDC108_uc002vjm.3_5'Flank	p.E996E	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	18	3072	-		Renal(207;0.0915)	996					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.2988A>G	CCDS2430.2																																																																																				0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4		NM_194302		118	19	0	0	0	0.01441	0	118	19		
UGT1A3	54659	broad.mit.edu	37	2	234638530	234638530	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:234638530C>T	ENST00000482026.1	+	1	777	c.758C>T	c.(757-759)tCt>tTt	p.S253F	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.S253F			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	253					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	AGTCATGCATCTGTGTGGCTG	0.507																																						uc002vuy.2		NaN																	0				ovary(1)	1						c.(757-759)TCT>TTT		UDP glycosyltransferase 1 family, polypeptide A3							240.0	234.0	236.0					2																	234638530		2203	4300	6503	SO:0001583	missense	54659				flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234638530C>T	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.758C>T	2.37:g.234638530C>T	ENSP00000418532:p.Ser253Phe					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.S253F	p.S253F	NM_019093	NP_061966	P35503	UD13_HUMAN		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	758	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)	253					B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.758C>T	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	c	15.45	2.838213	0.51057	.	.	ENSG00000243135	ENST00000482026	T	0.64260	-0.09	4.0	4.0	0.46444	.	.	.	.	.	D	0.85327	0.5671	H	0.96048	3.76	0.37369	D	0.911562	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92373	0.5907	9	0.87932	D	0	.	16.1408	0.81519	0.0:1.0:0.0:0.0	.	253;253	Q5DT01;P35503	.;UD13_HUMAN	F	253	ENSP00000418532:S253F	ENSP00000418532:S253F	S	+	2	0	UGT1A3	234303269	0.855000	0.29742	0.230000	0.23976	0.611000	0.37282	2.836000	0.48183	1.787000	0.52448	0.454000	0.30748	TCT		0.507	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1		NM_019093		33	213	0	0	0	0.00623	0	33	213		
CEP250	11190	broad.mit.edu	37	20	34063379	34063379	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr20:34063379C>T	ENST00000397527.1	+	15	2344	c.1624C>T	c.(1624-1626)Ctg>Ttg	p.L542L	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Silent_p.L542L|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	542	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACTCAGTGAACTGATCACTCT	0.552																																						uc002xcm.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(1624-1626)CTG>TTG		centrosomal protein 2							147.0	130.0	136.0					20																	34063379		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34063379C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.1624C>T	20.37:g.34063379C>T						CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_Intron	p.L542L	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		16	2295	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		542			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.1624C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924873	0.18056	.	.	ENSG00000126001	ENST00000425096	.	.	.	5.23	1.04	0.20106	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35151	-0.9800	4	.	.	.	.	4.6953	0.12800	0.0:0.4447:0.2996:0.2557	.	.	.	.	I	55	.	.	T	+	2	0	CEP250	33526793	0.385000	0.25172	0.935000	0.37517	0.990000	0.78478	0.146000	0.16180	0.069000	0.16605	0.563000	0.77884	ACT		0.552	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7		NM_007186		76	199	0	0	0	0.01441	0	76	199		
HELZ2	85441	broad.mit.edu	37	20	62198304	62198304	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr20:62198304C>T	ENST00000467148.1	-	6	2476	c.2407G>A	c.(2407-2409)Gag>Aag	p.E803K	HELZ2_ENST00000427522.2_Missense_Mutation_p.E234K	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	803	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGCGCAATCTCAGCCAGATTC	0.662																																						uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(2407-2409)GAG>AAG		PPAR-alpha interacting complex protein 285							64.0	58.0	60.0					20																	62198304		2202	4295	6497	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198304C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2407G>A	20.37:g.62198304C>T	ENSP00000417401:p.Glu803Lys					PRIC285_uc002yfl.1_Missense_Mutation_p.E234K	p.E803K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		7	3299	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		803					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.2407G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930611	0.73327	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.97455	-4.39;-4.39	5.13	5.13	0.70059	.	0.290551	0.38272	N	0.001743	D	0.98667	0.9553	M	0.89214	3.015	0.48696	D	0.999696	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.99723	1.1010	10	0.72032	D	0.01	-39.0584	18.5866	0.91192	0.0:1.0:0.0:0.0	.	803;234	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	K	234;803	ENSP00000393257:E234K;ENSP00000417401:E803K	ENSP00000393257:E234K	E	-	1	0	RP4-697K14.7	61668748	1.000000	0.71417	0.554000	0.28268	0.018000	0.09664	4.878000	0.63093	2.399000	0.81585	0.561000	0.74099	GAG		0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		29	137	0	0	0	0.004289	0	29	137		
HELZ2	85441	broad.mit.edu	37	20	62198314	62198314	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr20:62198314C>T	ENST00000467148.1	-	6	2466	c.2397G>A	c.(2395-2397)ctG>ctA	p.L799L	HELZ2_ENST00000427522.2_Silent_p.L230L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	799	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CAGCCAGATTCAGCCAGGACG	0.672																																						uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(2395-2397)CTG>CTA		PPAR-alpha interacting complex protein 285							64.0	57.0	60.0					20																	62198314		2203	4298	6501	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198314C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2397G>A	20.37:g.62198314C>T						PRIC285_uc002yfl.1_Silent_p.L230L	p.L799L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		7	3289	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		799					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.2397G>A	CCDS33508.1																																																																																				0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		27	131	0	0	0	0.003271	0	27	131		
RIPK4	54101	broad.mit.edu	37	21	43161772	43161772	+	Silent	SNP	G	G	A	rs143300354		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr21:43161772G>A	ENST00000352483.2	-	9	1789	c.1725C>T	c.(1723-1725)aaC>aaT	p.N575N	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Silent_p.N527N|RIPK4_ENST00000544709.1_Silent_p.N464N|RIPK4_ENST00000542057.1_Silent_p.N464N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	575					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGACCGAGGCGTTCTTCTCCA	0.627																																						uc002yzn.1		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1579-1581)AAC>AAT		ankyrin repeat domain 3		G		0,4406		0,0,2203	85.0	68.0	74.0		1581	-2.8	0.0	21	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RIPK4	NM_020639.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		527/785	43161772	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161772G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1725C>T	21.37:g.43161772G>A							p.N527N	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1629	-			527					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1581C>T																																																																																					0.627	RIPK4-201	KNOWN	basic	protein_coding	protein_coding			NM_020639		12	55	0	0	0	0.010729	0	12	55		
GGT1	2678	broad.mit.edu	37	22	25023476	25023476	+	Silent	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:25023476C>A	ENST00000400382.1	+	12	1853	c.1098C>A	c.(1096-1098)atC>atA	p.I366I	GGT1_ENST00000404532.1_Silent_p.I22I|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000403838.1_Silent_p.I22I|GGT1_ENST00000248923.4_Silent_p.I366I|GGT1_ENST00000406383.2_Silent_p.I366I|GGT1_ENST00000400380.1_Silent_p.I366I|GGT1_ENST00000400383.1_Silent_p.I366I|GGT1_ENST00000404920.1_Silent_p.I22I|GGT1_ENST00000401885.1_Silent_p.I22I|GGT1_ENST00000404223.1_Silent_p.I22I			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	366					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CTCACCCGATCTCCTACTACA	0.642																																						uc003aan.1		NaN																	0					0						c.(1096-1098)ATC>ATA		gamma-glutamyltransferase 1 precursor	Glutathione(DB00143)						33.0	33.0	33.0					22																	25023476		2198	4294	6492	SO:0001819	synonymous_variant	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25023476C>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1098C>A	22.37:g.25023476C>A						GGT1_uc003aas.1_Silent_p.I366I|GGT1_uc003aat.1_Silent_p.I366I|GGT1_uc003aau.1_Silent_p.I366I|GGT1_uc003aav.1_Silent_p.I366I|GGT1_uc003aaw.1_Silent_p.I366I|GGT1_uc003aax.1_Silent_p.I366I|GGT1_uc003aay.1_Silent_p.I22I	p.I366I	NM_013430	NP_038347	P19440	GGT1_HUMAN			12	1585	+			366			Extracellular (Potential).		Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	c.1098C>A	CCDS42992.1																																																																																				0.642	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1		NM_013430		35	81	1	0	6.68952e-21	0.013114	7.10762e-21	35	81		
SSTR3	6753	broad.mit.edu	37	22	37603104	37603104	+	Missense_Mutation	SNP	G	G	A	rs146500640	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:37603104G>A	ENST00000328544.3	-	2	1272	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	SSTR3_ENST00000402501.1_Missense_Mutation_p.R247W	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	247					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CGCCGCCGCCGCTGGCACGAG	0.672																																						uc003ara.2		NaN																	0				lung(1)	1						c.(739-741)CGG>TGG		somatostatin receptor 3		G	TRP/ARG	0,4392		0,0,2196	27.0	29.0	28.0		739	4.1	1.0	22	dbSNP_134	28	4,8552		0,4,4274	no	missense	SSTR3	NM_001051.2	101	0,4,6470	AA,AG,GG		0.0468,0.0,0.0309	probably-damaging	247/419	37603104	4,12944	2196	4278	6474	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603104G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.739C>T	22.37:g.37603104G>A	ENSP00000330138:p.Arg247Trp					SSTR3_uc003arb.2_Missense_Mutation_p.R247W	p.R247W	NM_001051	NP_001042	P32745	SSR3_HUMAN			2	801	-			247			Cytoplasmic (Potential).		A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.739C>T	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520188	0.44866	0.0	4.68E-4	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.38722	1.12;1.12	5.08	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.290303	0.25430	N	0.030726	T	0.57961	0.2089	M	0.71871	2.18	0.36764	D	0.883437	D	0.65815	0.995	P	0.58820	0.846	T	0.68922	-0.5281	10	0.87932	D	0	.	12.6783	0.56908	0.0:0.0:0.6995:0.3005	.	247	P32745	SSR3_HUMAN	W	247	ENSP00000330138:R247W;ENSP00000384904:R247W	ENSP00000330138:R247W	R	-	1	2	SSTR3	35933050	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	1.340000	0.33896	1.113000	0.41760	-0.309000	0.09137	CGG		0.672	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1				16	31	0	0	0	0.00333	0	16	31		
PMM1	5372	broad.mit.edu	37	22	41982104	41982104	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:41982104C>T	ENST00000216259.7	-	2	265	c.181G>A	c.(181-183)Gag>Aag	p.E61K	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	61					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCCAGCTGCTCAGCGATCTTA	0.567																																						uc003bal.2		NaN																	0				ovary(1)	1						c.(181-183)GAG>AAG		phosphomannomutase 1							94.0	80.0	85.0					22																	41982104		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41982104C>T		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.181G>A	22.37:g.41982104C>T	ENSP00000216259:p.Glu61Lys						p.E61K	NM_002676	NP_002667	Q92871	PMM1_HUMAN			2	243	-			61					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.181G>A	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823084	0.96989	.	.	ENSG00000100417	ENST00000216259	D	0.98849	-5.18	5.18	5.18	0.71444	HAD-like domain (2);	0.052377	0.85682	D	0.000000	D	0.99165	0.9711	M	0.87038	2.855	0.80722	D	1	D	0.61080	0.989	D	0.71184	0.972	D	0.99679	1.0998	10	0.37606	T	0.19	-10.3475	18.3618	0.90377	0.0:1.0:0.0:0.0	.	61	Q92871	PMM1_HUMAN	K	61	ENSP00000216259:E61K	ENSP00000216259:E61K	E	-	1	0	PMM1	40312050	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.576000	0.82467	2.409000	0.81822	0.650000	0.86243	GAG		0.567	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3		NM_002676		53	129	0	0	0	0.01441	0	53	129		
PMM1	5372	broad.mit.edu	37	22	41982185	41982185	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:41982185C>G	ENST00000216259.7	-	2	184	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	34					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GCGGCCACCTCAGGGTCAATT	0.562																																						uc003bal.2		NaN																	0				ovary(1)	1						c.(100-102)GAG>CAG		phosphomannomutase 1							77.0	74.0	75.0					22																	41982185		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41982185C>G		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.100G>C	22.37:g.41982185C>G	ENSP00000216259:p.Glu34Gln						p.E34Q	NM_002676	NP_002667	Q92871	PMM1_HUMAN			2	162	-			34					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.100G>C	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847069	0.51164	.	.	ENSG00000100417	ENST00000216259	D	0.98862	-5.19	5.18	4.15	0.48705	HAD-like domain (2);	0.326405	0.31685	N	0.007238	D	0.97195	0.9083	L	0.61387	1.9	0.42538	D	0.993061	B	0.06786	0.001	B	0.04013	0.001	D	0.96107	0.9074	10	0.51188	T	0.08	-20.9552	13.8296	0.63373	0.0:0.9235:0.0:0.0765	.	34	Q92871	PMM1_HUMAN	Q	34	ENSP00000216259:E34Q	ENSP00000216259:E34Q	E	-	1	0	PMM1	40312131	0.887000	0.30362	0.997000	0.53966	0.933000	0.57130	1.579000	0.36536	2.409000	0.81822	0.650000	0.86243	GAG		0.562	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3		NM_002676		43	149	0	0	0	0.01441	0	43	149		
ITPR1	3708	broad.mit.edu	37	3	4712527	4712527	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:4712527G>C	ENST00000443694.2	+	17	2076	c.2076G>C	c.(2074-2076)gaG>gaC	p.E692D	ITPR1_ENST00000302640.8_Missense_Mutation_p.E692D|ITPR1_ENST00000357086.4_Missense_Mutation_p.E707D|ITPR1_ENST00000354582.6_Missense_Mutation_p.E707D|ITPR1_ENST00000456211.2_Missense_Mutation_p.E692D|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.E707D			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	707					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCAACAAAGAGATTCGCAGCA	0.517																																						uc003bqa.2		NaN																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(2119-2121)GAG>GAC		inositol 1,4,5-triphosphate receptor, type 1							74.0	73.0	73.0					3																	4712527		2023	4183	6206	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4712527G>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2076G>C	3.37:g.4712527G>C	ENSP00000401671:p.Glu692Asp					ITPR1_uc010hca.1_Missense_Mutation_p.E692D|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.E692D	p.E707D	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	20	2469	+			707			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2121G>C	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138284	0.37728	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92048	-2.95;-2.96;-2.93;-2.93;-2.92;-2.95	4.57	1.83	0.25207	.	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	L	0.56769	1.78	0.80722	D	1	B;B;B	0.31519	0.02;0.09;0.327	B;B;B	0.33454	0.016;0.039;0.164	T	0.79281	-0.1868	10	0.20046	T	0.44	.	9.3997	0.38424	0.3015:0.0:0.6985:0.0	.	692;707;707	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	D	707;692;707;707;707;692;692	ENSP00000306253:E692D;ENSP00000346595:E707D;ENSP00000405934:E707D;ENSP00000349597:E707D;ENSP00000397885:E692D;ENSP00000401671:E692D	ENSP00000306253:E692D	E	+	3	2	ITPR1	4687527	0.997000	0.39634	0.775000	0.31657	0.713000	0.41058	1.094000	0.30951	0.191000	0.20236	0.655000	0.94253	GAG		0.517	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		NM_002222		9	35	0	0	0	0.004482	0	9	35		
SLC6A6	6533	broad.mit.edu	37	3	14508095	14508095	+	Silent	SNP	G	G	C	rs561563380	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:14508095G>C	ENST00000454876.2	+	7	1133	c.804G>C	c.(802-804)ccG>ccC	p.P268P	SLC6A6_ENST00000360861.3_Silent_p.P268P			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	268					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGACGCTGCCGGGCGCGGGCG	0.617																																						uc010heg.2		NaN																	0				ovary(1)	1						c.(802-804)CCG>CCC		solute carrier family 6 (neurotransmitter							87.0	74.0	78.0					3																	14508095		2203	4300	6503	SO:0001819	synonymous_variant	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14508095G>C		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.804G>C	3.37:g.14508095G>C						SLC6A6_uc003byq.2_Silent_p.P268P|SLC6A6_uc003byr.2_RNA	p.P268P	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN			14	1095	+			268					B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	37	c.804G>C	CCDS33705.1																																																																																				0.617	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1		NM_003043		31	41	0	0	0	0.004289	0	31	41		
NR2C2	7182	broad.mit.edu	37	3	15045491	15045491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:15045491C>T	ENST00000425241.1	+	2	432	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	NR2C2_ENST00000393102.3_Nonsense_Mutation_p.Q24*|NR2C2_ENST00000406272.2_Nonsense_Mutation_p.Q24*|NR2C2_ENST00000323373.6_Nonsense_Mutation_p.Q24*			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	24					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGCGCATTCAGGTACCTGC	0.527																																						uc003bzj.3		NaN																	0					0						c.(70-72)CAG>TAG		nuclear receptor subfamily 2, group C, member 2							109.0	89.0	96.0					3																	15045491		2203	4300	6503	SO:0001587	stop_gained	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15045491C>T	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.70C>T	3.37:g.15045491C>T	ENSP00000388387:p.Gln24*					NR2C2_uc003bzi.2_Nonsense_Mutation_p.Q24*	p.Q24*	NM_003298	NP_003289	P49116	NR2C2_HUMAN			2	287	+			24					A8K3H5|B6ZGT8|P55092	Nonsense_Mutation	SNP	ENST00000425241.1	37	c.70C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.245355	0.95272	.	.	ENSG00000177463	ENST00000413118;ENST00000425241;ENST00000435454;ENST00000323373;ENST00000393102;ENST00000437120;ENST00000406272	.	.	.	5.31	5.31	0.75309	.	0.051729	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.5771	0.91159	0.0:1.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000320447:Q24X	Q	+	1	0	NR2C2	15020495	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	6.350000	0.73017	2.493000	0.84123	0.563000	0.77884	CAG		0.527	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1		NM_003298		23	129	0	0	0	0.00632	0	23	129		
BAP1	8314	broad.mit.edu	37	3	52439230	52439230	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:52439230G>A	ENST00000460680.1	-	11	1483	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	BAP1_ENST00000296288.5_Missense_Mutation_p.P320S	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V335fs*10(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCCTGGAGGCTTCACCACT	0.587			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	uc003ddx.2		NaN		Rec	yes		3	3p21.31-p21.2	8314	N|Mis|F|S|O	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E			uveal melanoma|breast|NSCLC		1	Deletion - Frameshift(1)		skin(1)	pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65						c.(1012-1014)CCT>TCT		BRCA1 associated protein-1							113.0	120.0	118.0					3																	52439230		2203	4300	6503	SO:0001583	missense	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52439230G>A	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1012C>T	3.37:g.52439230G>A	ENSP00000417132:p.Pro338Ser					BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank	p.P338S	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	11	1127	-			338					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.1012C>T	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604451	0.46423	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.55930	0.5;0.49	5.48	5.48	0.80851	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.259165	0.38897	N	0.001539	T	0.42988	0.1227	L	0.50333	1.59	0.36721	D	0.881182	B	0.19331	0.035	B	0.19946	0.027	T	0.41945	-0.9480	10	0.15066	T	0.55	-14.1056	9.2281	0.37418	0.0:0.1369:0.6338:0.2293	.	338	Q92560	BAP1_HUMAN	S	338;320	ENSP00000417132:P338S;ENSP00000296288:P320S	ENSP00000296288:P320S	P	-	1	0	BAP1	52414270	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.106000	0.31098	2.590000	0.87494	0.655000	0.94253	CCT		0.587	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1				85	106	0	0	0	0.01441	0	85	106		
SEMA3G	56920	broad.mit.edu	37	3	52474095	52474095	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:52474095G>T	ENST00000231721.2	-	11	1162	c.1163C>A	c.(1162-1164)gCa>gAa	p.A388E		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	388	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			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)		TCCTGGCTGTGCGGTCATCTT	0.622																																						uc003dea.1		NaN																	0				ovary(2)	2						c.(1162-1164)GCA>GAA		semaphorin sem2 precursor							67.0	63.0	65.0					3																	52474095		2203	4300	6503	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52474095G>T		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.1163C>A	3.37:g.52474095G>T	ENSP00000231721:p.Ala388Glu						p.A388E	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)	11	1163	-			388			Sema.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.1163C>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	3.593	-0.083093	0.07141	.	.	ENSG00000010319	ENST00000231721	T	0.21543	2.0	5.13	3.26	0.37387	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.436988	0.24085	N	0.041691	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	B	0.34103	0.437	B	0.37047	0.24	T	0.19257	-1.0311	10	0.21540	T	0.41	.	4.088	0.09957	0.0864:0.1302:0.5835:0.2	.	388	Q9NS98	SEM3G_HUMAN	E	388	ENSP00000231721:A388E	ENSP00000231721:A388E	A	-	2	0	SEMA3G	52449135	0.145000	0.22656	0.004000	0.12327	0.025000	0.11179	2.501000	0.45389	1.402000	0.46780	0.561000	0.74099	GCA		0.622	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1		NM_020163		15	20	1	0	1.15088e-07	0.004007	1.18575e-07	15	20		
CADM2	253559	broad.mit.edu	37	3	86115879	86115879	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:86115879C>G	ENST00000407528.2	+	10	1316	c.1254C>G	c.(1252-1254)atC>atG	p.I418M	CADM2_ENST00000383699.3_Missense_Mutation_p.I387M|CADM2_ENST00000405615.2_Missense_Mutation_p.I420M	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	418					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CAGCCATTATCAATGCTGAAG	0.393																																						uc003dqj.2		NaN																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(1252-1254)ATC>ATG		immunoglobulin superfamily, member 4D							109.0	106.0	107.0					3																	86115879		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86115879C>G	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1254C>G	3.37:g.86115879C>G	ENSP00000384575:p.Ile418Met					CADM2_uc003dqk.2_Missense_Mutation_p.I387M|CADM2_uc003dql.2_Missense_Mutation_p.I420M|uc003dqm.1_5'Flank	p.I418M	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	10	1880	+		Lung NSC(201;0.0148)	418			Cytoplasmic (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.1254C>G	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433391	0.62844	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.65732	-0.01;-0.17;-0.16	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	L	0.46157	1.445	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.996;0.994	T	0.73585	-0.3936	10	0.54805	T	0.06	.	14.3596	0.66761	0.1481:0.8519:0.0:0.0	.	420;387;418	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	M	387;418;420	ENSP00000373200:I387M;ENSP00000384575:I418M;ENSP00000384193:I420M	ENSP00000373200:I387M	I	+	3	3	CADM2	86198569	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.880000	0.56145	2.607000	0.88179	0.460000	0.39030	ATC		0.393	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1		NM_153184		28	36	0	0	0	0.007291	0	28	36		
ZNF80	7634	broad.mit.edu	37	3	113955575	113955575	+	Missense_Mutation	SNP	C	C	T	rs200366369		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:113955575C>T	ENST00000482457.2	-	1	850	c.347G>A	c.(346-348)cGc>cAc	p.R116H	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GTGCGACCTGCGGTTGAAGAC	0.542																																					GBM(23;986 1114 21716)	uc010hqo.2		NaN																	0					0						c.(346-348)CGC>CAC		zinc finger protein 80							60.0	55.0	57.0					3																	113955575		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955575C>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.347G>A	3.37:g.113955575C>T	ENSP00000417192:p.Arg116His					ZNF80_uc003ebf.2_RNA	p.R116H	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	851	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	116			C2H2-type 3; atypical.		Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.347G>A	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	C	8.317	0.823451	0.16678	.	.	ENSG00000174255	ENST00000482457	T	0.15718	2.4	2.98	-2.44	0.06502	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11879	0.0289	L	0.55834	1.745	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.38757	-0.9646	9	0.32370	T	0.25	.	0.2143	0.00160	0.2657:0.2392:0.1493:0.3459	.	116	P51504	ZNF80_HUMAN	H	116	ENSP00000417192:R116H	ENSP00000309812:R116H	R	-	2	0	ZNF80	115438265	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-7.247000	0.00041	-0.605000	0.05753	-0.892000	0.02923	CGC		0.542	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2		NM_007136		16	29	0	0	0	0.008871	0	16	29		
HPS3	84343	broad.mit.edu	37	3	148871395	148871395	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:148871395G>A	ENST00000296051.2	+	7	1500	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	HPS3_ENST00000460120.1_Missense_Mutation_p.E289K	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	454					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCAGAACCTGAAGCCATTCC	0.438									Hermansky-Pudlak syndrome																													uc003ewu.1		NaN																	0				ovary(5)|large_intestine(1)	6						c.(1360-1362)GAA>AAA		Hermansky-Pudlak syndrome 3 protein							100.0	103.0	102.0					3																	148871395		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148871395G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1360G>A	3.37:g.148871395G>A	ENSP00000296051:p.Glu454Lys					HPS3_uc003ewt.1_Missense_Mutation_p.E454K|HPS3_uc011bnq.1_Missense_Mutation_p.E289K	p.E454K	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		7	1500	+			454					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.1360G>A	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332818	0.81801	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.64618	-0.11;-0.11	5.97	5.09	0.68999	.	0.348781	0.32719	N	0.005736	T	0.70098	0.3185	M	0.67953	2.075	0.41817	D	0.990006	P;P	0.39352	0.669;0.669	P;P	0.46172	0.506;0.506	T	0.74006	-0.3803	10	0.66056	D	0.02	-9.5762	17.3713	0.87379	0.0:0.1247:0.8753:0.0	.	289;454	G5E9V4;Q969F9	.;HPS3_HUMAN	K	454;289	ENSP00000296051:E454K;ENSP00000418230:E289K	ENSP00000296051:E454K	E	+	1	0	HPS3	150354085	1.000000	0.71417	0.700000	0.30305	0.613000	0.37349	5.637000	0.67854	1.513000	0.48852	0.655000	0.94253	GAA		0.438	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1		NM_032383		20	57	0	0	0	0.014323	0	20	57		
TXK	7294	broad.mit.edu	37	4	48082134	48082134	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:48082134T>A	ENST00000264316.4	-	11	1053	c.968A>T	c.(967-969)cAt>cTt	p.H323L	TXK_ENST00000507351.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGCTTTGAATGAGATAATTT	0.373																																						uc003gxx.3		NaN																	0					0						c.(967-969)CAT>CTT		TXK tyrosine kinase							61.0	60.0	61.0					4																	48082134		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48082134T>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.968A>T	4.37:g.48082134T>A	ENSP00000264316:p.His323Leu					TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Missense_Mutation_p.H10L	p.H323L	NM_003328	NP_003319	P42681	TXK_HUMAN			11	1054	-			323			Protein kinase.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.968A>T	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084512	0.76642	.	.	ENSG00000074966	ENST00000264316	T	0.73258	-0.73	5.04	5.04	0.67666	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.162043	0.40385	N	0.001101	D	0.91209	0.7230	H	0.99732	4.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.94708	0.7889	10	0.87932	D	0	.	14.0987	0.65039	0.0:0.0:0.0:1.0	.	10;323	B4DTB5;P42681	.;TXK_HUMAN	L	323	ENSP00000264316:H323L	ENSP00000264316:H323L	H	-	2	0	TXK	47776891	1.000000	0.71417	0.098000	0.21074	0.878000	0.50629	7.841000	0.86834	2.119000	0.64992	0.459000	0.35465	CAT		0.373	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7		NM_003328		8	30	0	0	0	0.004482	0	8	30		
PPEF2	5470	broad.mit.edu	37	4	76797581	76797581	+	Silent	SNP	G	G	A	rs371148899		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:76797581G>A	ENST00000286719.7	-	11	1535	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	393	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCAGTTCCACGGAGCTCCGCA	0.657																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2		NaN																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1177-1179)TCC>TCT		serine/threonine protein phosphatase with		G		1,4405	2.1+/-5.4	0,1,2202	26.0	29.0	28.0		1179	-10.2	0.0	4		28	0,8598		0,0,4299	no	coding-synonymous	PPEF2	NM_006239.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		393/754	76797581	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76797581G>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1179C>T	4.37:g.76797581G>A						PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.S393S	p.S393S	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		11	1536	-			393			Catalytic.		O14831	Silent	SNP	ENST00000286719.7	37	c.1179C>T	CCDS34013.1																																																																																				0.657	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1		NM_006239		15	21	0	0	0	0.004007	0	15	21		
ANK2	287	broad.mit.edu	37	4	114284603	114284603	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:114284603G>A	ENST00000357077.4	+	40	10919	c.10866G>A	c.(10864-10866)gaG>gaA	p.E3622E	ANK2_ENST00000506722.1_Silent_p.E1528E|ANK2_ENST00000510275.2_Silent_p.E189E|ANK2_ENST00000264366.6_Silent_p.E3589E|ANK2_ENST00000394537.3_Silent_p.E1537E|ANK2_ENST00000509550.1_Silent_p.E713E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3622	Death 2. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTGGCTAGAGAGGGATGGGA	0.428																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(10864-10866)GAG>GAA		ankyrin 2 isoform 1							111.0	110.0	110.0					4																	114284603		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114284603G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10866G>A	4.37:g.114284603G>A						ANK2_uc003ibd.3_Silent_p.E1528E|ANK2_uc003ibf.3_Silent_p.E1537E|ANK2_uc011cgc.1_Silent_p.E713E|ANK2_uc003ibg.3_Silent_p.E521E|ANK2_uc003ibh.3_Silent_p.E211E|ANK2_uc011cgd.1_Silent_p.E924E	p.E3622E	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	40	10966	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3589			Death.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.10866G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	6.653	0.489070	0.12641	.	.	ENSG00000145362	ENST00000514960	D	0.93604	-3.25	5.29	-5.76	0.02376	.	0.205307	0.33364	N	0.004997	D	0.86977	0.6063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74210	-0.3739	7	0.08599	T	0.76	.	12.8072	0.57619	0.5299:0.0:0.4701:0.0	.	.	.	.	K	539	ENSP00000422853:E539K	ENSP00000422853:E539K	E	+	1	0	ANK2	114504052	0.913000	0.31002	0.865000	0.33974	0.725000	0.41563	0.123000	0.15708	-1.227000	0.02571	-0.157000	0.13467	GAG		0.428	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148		17	123	0	0	0	0.012319	0	17	123		
FGG	2266	broad.mit.edu	37	4	155531252	155531252	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:155531252C>T	ENST00000336098.3	-	5	537	c.499G>A	c.(499-501)Gac>Aac	p.D167N	FGG_ENST00000405164.1_Missense_Mutation_p.D167N|FGG_ENST00000407946.1_Missense_Mutation_p.D167N|FGG_ENST00000404648.3_Missense_Mutation_p.D167N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	167					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGCACCGTGTCTTTGCAAGGT	0.363																																						uc003ioj.2		NaN																	0					0						c.(499-501)GAC>AAC		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)						197.0	178.0	184.0					4																	155531252		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155531252C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.499G>A	4.37:g.155531252C>T	ENSP00000336829:p.Asp167Asn					FGG_uc003iog.2_Missense_Mutation_p.D167N|FGG_uc003ioh.2_Missense_Mutation_p.D167N|FGG_uc010ipx.2_Intron|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.D167N	p.D167N	NM_021870	NP_068656	P02679	FIBG_HUMAN			5	640	-	all_hematologic(180;0.215)	Renal(120;0.0458)	167					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.499G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011503	0.75046	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946;ENST00000443553;ENST00000393846	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.48	5.48	0.80851	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.000000	0.85682	D	0.000000	D	0.89061	0.6608	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	0.961;1.0;1.0;1.0	D;D;D;D	0.97110	0.919;1.0;1.0;1.0	D	0.85953	0.1465	10	0.27082	T	0.32	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	167;167;167;167	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	N	167;167;167;167;64;64	ENSP00000384860:D167N;ENSP00000384101:D167N;ENSP00000336829:D167N;ENSP00000384552:D167N;ENSP00000407562:D64N;ENSP00000377429:D64N	ENSP00000336829:D167N	D	-	1	0	FGG	155750702	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.124000	0.77185	2.724000	0.93272	0.655000	0.94253	GAC		0.363	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1		NM_021870		33	47	0	0	0	0.004878	0	33	47		
CCDC110	256309	broad.mit.edu	37	4	186380148	186380148	+	Silent	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:186380148T>C	ENST00000307588.3	-	6	1668	c.1593A>G	c.(1591-1593)caA>caG	p.Q531Q	CCDC110_ENST00000510617.1_Silent_p.Q531Q|CCDC110_ENST00000393540.3_Silent_p.Q494Q|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	531						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CTAAAGAAAGTTGTATATTTT	0.269																																						uc003ixu.3		NaN																	0				central_nervous_system(1)	1						c.(1591-1593)CAA>CAG		coiled-coil domain containing 110 isoform a							85.0	82.0	83.0					4																	186380148		2202	4294	6496	SO:0001819	synonymous_variant	256309					nucleus		g.chr4:186380148T>C	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1593A>G	4.37:g.186380148T>C						CCDC110_uc003ixv.3_Silent_p.Q494Q|CCDC110_uc011ckt.1_Silent_p.Q531Q	p.Q531Q	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1669	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	531			Potential.		Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	37	c.1593A>G	CCDS3843.1																																																																																				0.269	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2		NM_152775		23	8	0	0	0	0.014323	0	23	8		
IRX1	79192	broad.mit.edu	37	5	3600252	3600252	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:3600252C>T	ENST00000302006.3	+	2	1242	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	397					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTTGGCGCTCCCCACGCCGCG	0.662																																						uc003jde.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1189-1191)CCC>CTC		iroquois homeobox protein 1							48.0	47.0	47.0					5																	3600252		2202	4300	6502	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600252C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1190C>T	5.37:g.3600252C>T	ENSP00000305244:p.Pro397Leu						p.P397L	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	1242	+			397					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1190C>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	7.199	0.593055	0.13875	.	.	ENSG00000170549	ENST00000302006	T	0.58210	0.35	4.0	3.0	0.34707	.	0.683044	0.13687	N	0.369781	T	0.33381	0.0861	N	0.14661	0.345	0.50813	D	0.999899	B	0.33694	0.421	B	0.35470	0.203	T	0.09250	-1.0683	10	0.25106	T	0.35	.	8.9699	0.35899	0.5477:0.4523:0.0:0.0	.	397	P78414	IRX1_HUMAN	L	397	ENSP00000305244:P397L	ENSP00000305244:P397L	P	+	2	0	IRX1	3653252	1.000000	0.71417	0.845000	0.33349	0.065000	0.16274	4.510000	0.60455	1.748000	0.51833	0.467000	0.42956	CCC		0.662	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1		NM_024337		12	63	0	0	0	0.003163	0	12	63		
FASTKD3	79072	broad.mit.edu	37	5	7861273	7861273	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:7861273G>C	ENST00000264669.5	-	6	2009	c.1873C>G	c.(1873-1875)Caa>Gaa	p.Q625E	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	625	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACAACTTGATAACCGAGT	0.348																																						uc003jeb.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1873-1875)CAA>GAA		FAST kinase domains 3							125.0	122.0	123.0					5																	7861273		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7861273G>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1873C>G	5.37:g.7861273G>C	ENSP00000264669:p.Gln625Glu					FASTKD3_uc011cmp.1_Missense_Mutation_p.Q327E|FASTKD3_uc003jec.2_RNA	p.Q625E	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			6	2010	-			625			RAP.		Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1873C>G	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.706887	0.00719	.	.	ENSG00000124279	ENST00000264669	T	0.14266	2.52	5.22	0.816	0.18768	RAP domain (3);	0.922249	0.09173	N	0.838572	T	0.06917	0.0176	N	0.11313	0.125	0.28434	N	0.917134	B	0.06786	0.001	B	0.04013	0.001	T	0.33879	-0.9851	10	0.05351	T	0.99	-0.0469	13.4409	0.61112	0.0:0.5763:0.2862:0.1376	.	625	Q14CZ7	FAKD3_HUMAN	E	625	ENSP00000264669:Q625E	ENSP00000264669:Q625E	Q	-	1	0	FASTKD3	7914273	0.997000	0.39634	0.012000	0.15200	0.021000	0.10359	0.820000	0.27323	0.165000	0.19558	-0.211000	0.12701	CAA		0.348	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1		NM_024091		53	68	0	0	0	0.01441	0	53	68		
RAD17	5884	broad.mit.edu	37	5	68684860	68684860	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:68684860G>A	ENST00000509734.1	+	11	1605		c.e11-1		RAD17_ENST00000282891.6_Splice_Site|RAD17_ENST00000305138.4_Splice_Site|RAD17_ENST00000361732.2_Splice_Site|RAD17_ENST00000345306.6_Splice_Site|RAD17_ENST00000354312.3_Splice_Site|RAD17_ENST00000380774.3_Splice_Site|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_Splice_Site|RAD17_ENST00000521422.1_Splice_Site|RAD17_ENST00000354868.5_Splice_Site			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)						cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		tcttattttaGAATGGAGGAA	0.294								Other conserved DNA damage response genes																														uc003jwo.2		NaN																	0					0						c.e9-1	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD17 homolog isoform 2							38.0	38.0	38.0					5																	68684860		2196	4299	6495	SO:0001630	splice_region_variant	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68684860G>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.928-1G>A	5.37:g.68684860G>A						RAD17_uc003jwg.2_Splice_Site_p.N299_splice|RAD17_uc003jwh.2_Splice_Site_p.N299_splice|RAD17_uc003jwi.2_Splice_Site_p.N299_splice|RAD17_uc003jwj.2_Splice_Site_p.N299_splice|RAD17_uc003jwk.2_Splice_Site_p.N299_splice|RAD17_uc003jwl.2_Splice_Site_p.N299_splice|RAD17_uc003jwm.2_Splice_Site_p.N134_splice|RAD17_uc003jwn.2_Splice_Site_p.N213_splice	p.N310_splice	NM_133339	NP_579917	O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	9	990	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)						A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Splice_Site	SNP	ENST00000509734.1	37	c.928_splice	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817173	0.70912	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8627	0.88786	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAD17	68720616	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.354000	0.90080	2.591000	0.87537	0.557000	0.71058	.		0.294	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1		NM_133344	Intron	4	34	0	0	0	0.009096	0	4	34		
LYSMD3	116068	broad.mit.edu	37	5	89815210	89815210	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:89815210G>A	ENST00000315948.6	-	3	491	c.347C>T	c.(346-348)tCc>tTc	p.S116F	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_Silent_p.F96F	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	116						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TTCGGTCAAGGAACTGAACTT	0.398																																						uc003kjr.2		NaN																	0					0						c.(346-348)TCC>TTC		LysM, putative peptidoglycan-binding, domain							80.0	75.0	76.0					5																	89815210		1837	4086	5923	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89815210G>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.347C>T	5.37:g.89815210G>A	ENSP00000314518:p.Ser116Phe					LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Silent_p.F96F	p.S116F	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	495	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	116			Extracellular (Potential).		Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.347C>T	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469316	0.43839	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.17213	2.29	5.73	2.56	0.30785	.	0.483236	0.22912	N	0.054129	T	0.09202	0.0227	L	0.40543	1.245	0.35405	D	0.791899	P	0.35383	0.498	B	0.27500	0.08	T	0.22173	-1.0224	10	0.10377	T	0.69	-4.8569	5.4032	0.16306	0.5507:0.0:0.4493:0.0	.	116	Q7Z3D4	LYSM3_HUMAN	F	116	ENSP00000314518:S116F	ENSP00000314518:S116F	S	-	2	0	AC027323.1;LYSMD3	89850966	0.999000	0.42202	0.976000	0.42696	0.994000	0.84299	3.437000	0.52863	0.749000	0.32854	0.591000	0.81541	TCC		0.398	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2		XM_371760		25	58	0	0	0	0.007291	0	25	58		
CLTB	1212	broad.mit.edu	37	5	175823491	175823491	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:175823491G>A	ENST00000310418.4	-	5	712	c.507C>T	c.(505-507)atC>atT	p.I169I	CLTB_ENST00000345807.2_Intron	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	169					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CGTAGCCGATGATATCAGCAT	0.507																																						uc003meh.2		NaN																	0					0						c.(505-507)ATC>ATT		clathrin, light polypeptide isoform b							185.0	147.0	160.0					5																	175823491		2203	4300	6503	SO:0001819	synonymous_variant	1212				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity	g.chr5:175823491G>A	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.507C>T	5.37:g.175823491G>A						CLTB_uc003mei.2_Intron|CLTB_uc011dfn.1_Intron	p.I169I	NM_007097	NP_009028	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	6	682	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	169					Q53Y37|Q6FHW1	Silent	SNP	ENST00000310418.4	37	c.507C>T	CCDS4403.1																																																																																				0.507	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1				19	32	0	0	0	0.012319	0	19	32		
RGS14	10636	broad.mit.edu	37	5	176793178	176793178	+	Splice_Site	SNP	A	A	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:176793178A>T	ENST00000408923.3	+	3	256	c.68A>T	c.(67-69)gAg>gTg	p.E23V		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	23					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCTGCAGAGCTGAGCAGC	0.682																																					NSCLC(47;353 1896 28036)	uc003mgf.2		NaN																	0				lung(1)	1						c.(67-69)GAG>GTG		regulator of G-protein signalling 14							19.0	25.0	23.0					5																	176793178		1971	4150	6121	SO:0001630	splice_region_variant	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176793178A>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.68-1A>T	5.37:g.176793178A>T						RGS14_uc003mgg.1_5'Flank|RGS14_uc003mgh.2_5'Flank|RGS14_uc003mgi.2_5'Flank	p.E23V	NM_006480	NP_006471	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	250	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	23					O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.68A>T	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.219899	0.58560	.	.	ENSG00000169220	ENST00000408923;ENST00000336477	T	0.52295	0.67	4.53	3.38	0.38709	.	0.064498	0.64402	D	0.000012	T	0.31827	0.0809	N	0.24115	0.695	0.45515	D	0.998476	B	0.34241	0.444	B	0.38156	0.266	T	0.06789	-1.0807	9	.	.	.	.	7.4232	0.27083	0.8262:0.0:0.1738:0.0	.	23	O43566	RGS14_HUMAN	V	23	ENSP00000386229:E23V	.	E	+	2	0	RGS14	176725784	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.226000	0.51254	1.686000	0.51046	0.374000	0.22700	GAG		0.682	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1		NM_006480	Missense_Mutation	9	33	0	0	0	0.001855	0	9	33		
HIST1H3I	8354	broad.mit.edu	37	6	27839778	27839778	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:27839778C>G	ENST00000328488.2	-	1	321	c.316G>C	c.(316-318)Gag>Cag	p.E106Q		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	106					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGGTATCCTCAAATAGCCCC	0.572																																						uc003njy.2		NaN																	0				ovary(1)	1						c.(316-318)GAG>CAG		histone cluster 1, H3i							106.0	113.0	111.0					6																	27839778		2203	4300	6503	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839778C>G	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.316G>C	6.37:g.27839778C>G	ENSP00000329554:p.Glu106Gln						p.E106Q	NM_003533	NP_003524	P68431	H31_HUMAN			1	322	-			106					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.316G>C	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405928	0.62288	.	.	ENSG00000182572	ENST00000328488	T	0.71698	-0.59	4.12	4.12	0.48240	.	.	.	.	.	T	0.78278	0.4258	.	.	.	0.42313	D	0.992229	.	.	.	.	.	.	T	0.81391	-0.0954	6	0.87932	D	0	.	16.6345	0.85043	0.0:1.0:0.0:0.0	.	.	.	.	Q	106	ENSP00000329554:E106Q	ENSP00000329554:E106Q	E	-	1	0	HIST1H3I	27947757	1.000000	0.71417	0.998000	0.56505	0.539000	0.34962	7.370000	0.79589	2.580000	0.87095	0.650000	0.86243	GAG		0.572	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1		NM_003533		58	82	0	0	0	0.01441	0	58	82		
PSORS1C1	170679	broad.mit.edu	37	6	31084799	31084799	+	Intron	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:31084799G>C	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Missense_Mutation_p.S198C|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GGTCTGGGAAGAGGAAGAGCT	0.572																																						uc003nsm.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(592-594)TCT>TGT		corneodesmosin precursor							91.0	99.0	96.0					6																	31084799		2203	4300	6503	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31084799G>C	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+2131G>C	6.37:g.31084799G>C						PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	p.S198C	NM_001264	NP_001255	Q15517	CDSN_HUMAN			2	620	-			198			Ser-rich.		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	c.593C>G	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	G	7.472	0.646893	0.14516	.	.	ENSG00000204539	ENST00000376288	T	0.06528	3.29	3.41	-6.81	0.01704	.	1.803230	0.03665	N	0.243107	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42275	-0.9461	10	0.42905	T	0.14	13.9449	7.6501	0.28344	0.1982:0.2734:0.5284:0.0	.	198	Q15517	CDSN_HUMAN	C	198	ENSP00000365465:S198C	ENSP00000365465:S198C	S	-	2	0	CDSN	31192778	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	-0.397000	0.07269	-2.692000	0.00403	-1.671000	0.00744	TCT		0.572	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3		NM_014068		11	106	0	0	0	0.01441	0	11	106		
FAM46A	55603	broad.mit.edu	37	6	82459570	82459570	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:82459570C>T	ENST00000320172.6	-	3	1485	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	FAM46A_ENST00000369756.3_Missense_Mutation_p.D472N|FAM46A_ENST00000369754.3_Missense_Mutation_p.D410N	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	391					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		ACATTTTGGTCAGCTAACACC	0.453																																						uc003pjg.2		NaN																	0					0						c.(1171-1173)GAC>AAC		hypothetical protein LOC55603							220.0	192.0	202.0					6																	82459570		2203	4300	6503	SO:0001583	missense	55603							g.chr6:82459570C>T	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.1171G>A	6.37:g.82459570C>T	ENSP00000318298:p.Asp391Asn					FAM46A_uc003pjf.2_Missense_Mutation_p.D410N	p.D391N	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	3	1489	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	391					A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	37	c.1171G>A	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280496	0.59758	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.22743	1.96;1.97;1.94	6.17	6.17	0.99709	.	0.082464	0.85682	D	0.000000	T	0.08537	0.0212	N	0.14661	0.345	0.58432	D	0.999999	B;B	0.34329	0.155;0.449	B;B	0.31614	0.043;0.133	T	0.15122	-1.0448	10	0.38643	T	0.18	-13.4011	20.8794	0.99867	0.0:1.0:0.0:0.0	.	391;410	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	N	410;391;472	ENSP00000358769:D410N;ENSP00000318298:D391N;ENSP00000358771:D472N	ENSP00000318298:D391N	D	-	1	0	FAM46A	82516289	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAC		0.453	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1				52	10	0	0	0	0.01441	0	52	10		
CASP8AP2	9994	broad.mit.edu	37	6	90573259	90573259	+	RNA	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:90573259G>A	ENST00000551025.1	+	0	3268									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTCCATAAGTGAACATATCTT	0.423																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NaN																	0				ovary(2)	2						c.(1831-1833)GAA>AAA		caspase 8 associated protein 2							41.0	41.0	41.0					6																	90573259		1937	4133	6070			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90573259G>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573259G>A						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E611K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E611K	p.E611K	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	2027	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	611						Missense_Mutation	SNP	ENST00000551025.1	37	c.1831G>A																																																																																					0.423	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript			NM_001137667		23	2	0	0	0	0.009535	0	23	2		
FUT9	10690	broad.mit.edu	37	6	96651476	96651476	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:96651476G>A	ENST00000302103.5	+	3	771	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	149					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAGTGGCATTGAGCACTTGTT	0.453																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3		NaN																	0				skin(4)|ovary(1)	5						c.(445-447)GAG>AAG		fucosyltransferase 9 (alpha (1,3)							80.0	74.0	76.0					6																	96651476		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651476G>A	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.445G>A	6.37:g.96651476G>A	ENSP00000302599:p.Glu149Lys						p.E149K	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	786	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	149			Lumenal (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.445G>A	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342241	0.81911	.	.	ENSG00000172461	ENST00000302103	T	0.25749	1.78	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.23846	0.0577	L	0.43646	1.37	0.80722	D	1	P	0.47604	0.898	P	0.53722	0.733	T	0.01146	-1.1437	10	0.15952	T	0.53	-13.7339	18.3049	0.90177	0.0:0.0:1.0:0.0	.	149	Q9Y231	FUT9_HUMAN	K	149	ENSP00000302599:E149K	ENSP00000302599:E149K	E	+	1	0	FUT9	96758197	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.271000	0.65553	2.643000	0.89663	0.655000	0.94253	GAG		0.453	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2		NM_006581		21	29	0	0	0	0.00333	0	21	29		
SMPD2	6610	broad.mit.edu	37	6	109763792	109763792	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:109763792G>C	ENST00000258052.3	+	6	814	c.455G>C	c.(454-456)cGt>cCt	p.R152P	PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	152					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CTAGCACATCGTGTGGCCCAA	0.542																																						uc003pti.2		NaN																	0					0						c.(454-456)CGT>CCT		sphingomyelin phosphodiesterase 2, neutral							167.0	146.0	153.0					6																	109763792		2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109763792G>C	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.455G>C	6.37:g.109763792G>C	ENSP00000258052:p.Arg152Pro					PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank	p.R152P	NM_003080	NP_003071	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	6	849	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	152					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.455G>C	CCDS5075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.259553|4.259553	0.80246|0.80246	.|.	.|.	ENSG00000135587|ENSG00000135587	ENST00000258052|ENST00000458487	T|.	0.61627|.	0.09|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Endonuclease/exonuclease/phosphatase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81074|0.81074	0.4747|0.4747	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.84275|0.84275	0.0491|0.0491	10|5	0.87932|.	D|.	0|.	-17.7228|-17.7228	15.0452|15.0452	0.71822|0.71822	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	152|.	O60906|.	NSMA_HUMAN|.	P|L	152|7	ENSP00000258052:R152P|.	ENSP00000258052:R152P|.	R|V	+|+	2|1	0|0	SMPD2|SMPD2	109870485|109870485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.785000|7.785000	0.85724|0.85724	2.629000|2.629000	0.89072|0.89072	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.542	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1				8	90	0	0	0	0.008291	0	8	90		
GPER1	2852	broad.mit.edu	37	7	1131766	1131766	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:1131766G>A	ENST00000297469.3	+	2	1093	c.402G>A	c.(400-402)tcG>tcA	p.S134S	C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397092.1_Silent_p.S134S|C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000397088.3_Silent_p.S134S|GPER1_ENST00000401670.1_Silent_p.S134S|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	134					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CCTTCATGTCGCTCTTCCTGC	0.607																																						uc010ksd.1		NaN																	0				ovary(1)	1						c.(400-402)TCG>TCA		G protein-coupled receptor 30							169.0	121.0	137.0					7																	1131766		2203	4300	6503	SO:0001819	synonymous_variant	2852					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131766G>A	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.402G>A	7.37:g.1131766G>A						C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Silent_p.S134S|GPER_uc003ska.1_Silent_p.S134S|GPER_uc003skb.2_Silent_p.S134S	p.S134S	NM_001098201	NP_001091671	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	2	791	+		Ovarian(82;0.0253)	134			Helical; Name=3; (Potential).		A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Silent	SNP	ENST00000297469.3	37	c.402G>A	CCDS5322.1																																																																																				0.607	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1		NM_001039966		31	118	0	0	0	0.004289	0	31	118		
TNRC18	84629	broad.mit.edu	37	7	5410707	5410707	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:5410707G>A	ENST00000430969.1	-	11	3866	c.3518C>T	c.(3517-3519)cCg>cTg	p.P1173L	TNRC18_ENST00000399537.4_Missense_Mutation_p.P1173L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1173	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCCAGAGGCGGCAGCTCTGT	0.706																																						uc003soi.3		NaN																	0					0						c.(3517-3519)CCG>CTG		trinucleotide repeat containing 18							16.0	21.0	19.0					7																	5410707		2060	4162	6222	SO:0001583	missense	84629						DNA binding	g.chr7:5410707G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3518C>T	7.37:g.5410707G>A	ENSP00000395538:p.Pro1173Leu						p.P1173L	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	11	3867	-		Ovarian(82;0.142)	1173			Pro-rich.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.3518C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.065098	0.20067	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.10960	2.82;2.82	4.87	3.97	0.46021	.	0.000000	0.40640	N	0.001048	T	0.14270	0.0345	M	0.62016	1.91	0.39850	D	0.973225	D	0.56746	0.977	B	0.42319	0.383	T	0.05194	-1.0900	10	0.56958	D	0.05	.	13.2854	0.60241	0.0:0.0:0.6977:0.3023	.	1173	O15417	TNC18_HUMAN	L	1173;1173;228;228	ENSP00000382452:P1173L;ENSP00000395538:P1173L	ENSP00000330383:P228L	P	-	2	0	TNRC18	5377233	0.997000	0.39634	0.728000	0.30774	0.443000	0.32047	2.175000	0.42491	1.015000	0.39444	0.462000	0.41574	CCG		0.706	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					18	62	0	0	0	0.008871	0	18	62		
FAM188B	84182	broad.mit.edu	37	7	30891838	30891838	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:30891838G>C	ENST00000265299.6	+	11	1631	c.1554G>C	c.(1552-1554)tcG>tcC	p.S518S	AQP1_ENST00000509504.1_5'Flank|INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'Flank	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	518										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTAGGGCTTCGAGAACACAGC	0.463																																						uc003tbt.2		NaN																	0					0						c.(1552-1554)TCG>TCC		hypothetical protein LOC84182							108.0	105.0	106.0					7																	30891838		1946	4150	6096	SO:0001819	synonymous_variant	84182							g.chr7:30891838G>C	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1554G>C	7.37:g.30891838G>C						FAM188B_uc010kwe.2_Silent_p.S489S|AQP1_uc011kac.1_5'Flank	p.S518S	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			11	1631	+			518					Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	c.1554G>C	CCDS43565.1																																																																																				0.463	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1		NM_032222		18	113	0	0	0	0.00333	0	18	113		
BBS9	27241	broad.mit.edu	37	7	33376191	33376191	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:33376191G>A	ENST00000242067.6	+	10	1676	c.1155G>A	c.(1153-1155)atG>atA	p.M385I	BBS9_ENST00000396127.2_Missense_Mutation_p.M385I|BBS9_ENST00000354265.4_Missense_Mutation_p.M385I|BBS9_ENST00000350941.3_Missense_Mutation_p.M385I|BBS9_ENST00000355070.2_Missense_Mutation_p.M385I	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	385					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATGTAGAAATGAAAGAACTTC	0.333									Bardet-Biedl syndrome																													uc003tdn.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1153-1155)ATG>ATA		parathyroid hormone-responsive B1 isoform 2							62.0	57.0	58.0					7																	33376191		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33376191G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1155G>A	7.37:g.33376191G>A	ENSP00000242067:p.Met385Ile					BBS9_uc003tdo.1_Missense_Mutation_p.M385I|BBS9_uc003tdp.1_Missense_Mutation_p.M385I|BBS9_uc003tdq.1_Missense_Mutation_p.M385I|BBS9_uc010kwn.1_RNA|BBS9_uc011kao.1_Missense_Mutation_p.M263I	p.M385I	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		10	1668	+			385					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.1155G>A	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057685	0.55325	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000537775	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	5.54	5.54	0.83059	.	0.158099	0.52532	D	0.000074	D	0.84165	0.5412	M	0.70275	2.135	0.80722	D	1	B;B;B;B	0.13145	0.002;0.002;0.002;0.007	B;B;B;B	0.23574	0.009;0.023;0.011;0.047	T	0.79815	-0.1644	10	0.42905	T	0.14	-0.803	19.4774	0.94994	0.0:0.0:1.0:0.0	.	385;385;385;385	Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;PTHB1_HUMAN	I	385;385;385;385;385;385;385;263	ENSP00000242067:M385I;ENSP00000313122:M385I;ENSP00000379433:M385I;ENSP00000347182:M385I;ENSP00000346214:M385I	ENSP00000242067:M385I	M	+	3	0	BBS9	33342716	1.000000	0.71417	0.996000	0.52242	0.832000	0.47134	4.252000	0.58785	2.604000	0.88044	0.467000	0.42956	ATG		0.333	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1				4	29	0	0	0	0.009096	0	4	29		
PURB	5814	broad.mit.edu	37	7	44924070	44924070	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:44924070C>A	ENST00000395699.2	-	1	890	c.878G>T	c.(877-879)cGa>cTa	p.R293L	RP4-673M15.1_ENST00000608450.1_RNA|MIR4657_ENST00000578157.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	293					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						CCCACCACGTCGCTCATAAAG	0.587																																						uc003tme.2		NaN																	0					0						c.(877-879)CGA>CTA		purine-rich element binding protein B							81.0	87.0	85.0					7																	44924070		2203	4300	6503	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924070C>A		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.878G>T	7.37:g.44924070C>A	ENSP00000379051:p.Arg293Leu						p.R293L	NM_033224	NP_150093	Q96QR8	PURB_HUMAN			1	891	-			293					A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.878G>T	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139225	0.56936	.	.	ENSG00000146676	ENST00000395699	T	0.33654	1.4	4.45	4.45	0.53987	.	0.097811	0.36134	U	0.002768	T	0.23451	0.0567	N	0.24115	0.695	0.43499	D	0.995748	P	0.48764	0.915	B	0.38056	0.264	T	0.03739	-1.1008	10	0.30854	T	0.27	.	14.983	0.71324	0.0:1.0:0.0:0.0	.	293	Q96QR8	PURB_HUMAN	L	293	ENSP00000379051:R293L	ENSP00000379051:R293L	R	-	2	0	PURB	44890595	0.583000	0.26757	0.991000	0.47740	0.982000	0.71751	4.594000	0.61041	2.465000	0.83290	0.591000	0.81541	CGA		0.587	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2		NM_033224		41	148	1	0	2.29192e-23	0.01441	2.46822e-23	41	148		
FZD1	8321	broad.mit.edu	37	7	90896136	90896136	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:90896136C>T	ENST00000287934.2	+	1	2354	c.1941C>T	c.(1939-1941)gtC>gtT	p.V647V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	647					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGACTACAGTCTGAGACCCGG	0.627																																						uc003ula.2		NaN																	0					0						c.(1939-1941)GTC>GTT		frizzled 1 precursor							38.0	42.0	41.0					7																	90896136		2201	4296	6497	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90896136C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1941C>T	7.37:g.90896136C>T							p.V647V	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	2354	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		647			PDZ-binding.|Cytoplasmic (Potential).		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.1941C>T	CCDS5620.1																																																																																				0.627	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2		NM_003505		32	89	0	0	0	0.004289	0	32	89		
ACHE	43	broad.mit.edu	37	7	100490233	100490233	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:100490233C>T	ENST00000412389.1	-	2	1430	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000411582.1_Silent_p.L425L|ACHE_ENST00000428317.1_Silent_p.L425L|ACHE_ENST00000241069.5_Silent_p.L425L|ACHE_ENST00000419336.2_Intron|ACHE_ENST00000302913.4_Silent_p.L425L			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	425					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GGGCCTCCCTCAGGCGTGCCG	0.697																																						uc003uxd.2		NaN																	0				skin(2)	2						c.(1273-1275)CTG>CTA		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						26.0	27.0	27.0					7																	100490233		2202	4299	6501	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490233C>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1275G>A	7.37:g.100490233C>T						UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.L425L|ACHE_uc003uxf.2_Silent_p.L425L|ACHE_uc003uxg.2_Silent_p.L425L|ACHE_uc003uxh.2_Intron|ACHE_uc003uxi.2_Silent_p.L425L	p.L425L	NM_000665	NP_000656	P22303	ACES_HUMAN			2	1431	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		425					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.1275G>A	CCDS5709.1																																																																																				0.697	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1		NM_015831		8	33	0	0	0	0.006214	0	8	33		
ACHE	43	broad.mit.edu	37	7	100491541	100491541	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:100491541C>A	ENST00000412389.1	-	1	468	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	ACHE_ENST00000411582.1_Missense_Mutation_p.D105Y|ACHE_ENST00000428317.1_Missense_Mutation_p.D105Y|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000241069.5_Missense_Mutation_p.D105Y|ACHE_ENST00000419336.2_Missense_Mutation_p.D105Y|ACHE_ENST00000302913.4_Missense_Mutation_p.D105Y			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	105					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TATAGGGTGTCCACATATTGG	0.592																																						uc003uxd.2		NaN																	0				skin(2)	2						c.(313-315)GAC>TAC		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						124.0	114.0	117.0					7																	100491541		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491541C>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.313G>T	7.37:g.100491541C>A	ENSP00000394976:p.Asp105Tyr					ACHE_uc003uxe.2_Missense_Mutation_p.D105Y|ACHE_uc003uxf.2_Missense_Mutation_p.D105Y|ACHE_uc003uxg.2_Missense_Mutation_p.D105Y|ACHE_uc003uxh.2_Missense_Mutation_p.D105Y|ACHE_uc003uxi.2_Missense_Mutation_p.D105Y|ACHE_uc003uxj.1_Missense_Mutation_p.D224Y	p.D105Y	NM_000665	NP_000656	P22303	ACES_HUMAN			1	469	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		105					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.313G>T	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	c	17.10	3.303402	0.60195	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.32	5.32	0.75619	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	L	0.58354	1.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76460	-0.2951	10	0.34782	T	0.22	.	16.4674	0.84083	0.0:1.0:0.0:0.0	.	105;105;105;105	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	Y	105	ENSP00000403474:D105Y;ENSP00000241069:D105Y;ENSP00000414858:D105Y;ENSP00000303211:D105Y;ENSP00000394976:D105Y;ENSP00000397143:D105Y;ENSP00000399725:D105Y;ENSP00000404865:D105Y;ENSP00000396360:D105Y	ENSP00000241069:D105Y	D	-	1	0	ACHE	100329477	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	7.519000	0.81809	2.469000	0.83416	0.556000	0.70494	GAC		0.592	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1		NM_015831		45	167	1	0	1.81118e-26	0.01441	1.95937e-26	45	167		
ATP6V1H	51606	broad.mit.edu	37	8	54708314	54708314	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:54708314G>C	ENST00000359530.2	-	9	1026	c.763C>G	c.(763-765)Caa>Gaa	p.Q255E	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.Q255E|ATP6V1H_ENST00000355221.3_Missense_Mutation_p.Q237E|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.Q215E	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	255					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TCACACATTTGAGGACTGAAT	0.403																																						uc003xrl.2		NaN																	0					0						c.(763-765)CAA>GAA		ATPase, H+ transporting, lysosomal 50/57kDa, V1							83.0	88.0	86.0					8																	54708314		2203	4300	6503	SO:0001583	missense	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54708314G>C	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.763C>G	8.37:g.54708314G>C	ENSP00000352522:p.Gln255Glu					ATP6V1H_uc003xrk.2_Missense_Mutation_p.Q215E|ATP6V1H_uc003xrm.2_Missense_Mutation_p.Q255E|ATP6V1H_uc003xrn.2_Missense_Mutation_p.Q237E|ATP6V1H_uc011ldv.1_Missense_Mutation_p.Q175E|ATP6V1H_uc010lyd.2_Missense_Mutation_p.Q191E	p.Q255E	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		9	915	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	255					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	c.763C>G	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274117	0.23221	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	N	0.03324	-0.35	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.17098	0.01;0.017	T	0.38693	-0.9649	9	0.02654	T	1	-15.7726	20.0693	0.97712	0.0:0.0:1.0:0.0	.	237;255	Q9UI12-2;Q9UI12	.;VATH_HUMAN	E	237;215;255;255	.	ENSP00000347359:Q237E	Q	-	1	0	ATP6V1H	54870867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.758000	0.94735	0.563000	0.77884	CAA		0.403	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1		NM_015941		62	81	0	0	0	0.01441	0	62	81		
TRPA1	8989	broad.mit.edu	37	8	72981353	72981353	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:72981353G>A	ENST00000262209.4	-	3	556	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	117					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGCTGAGAAGAAACTTAACG	0.413																																						uc003xza.2		NaN																	0				ovary(4)|lung(1)|kidney(1)	6						c.(349-351)CTT>TTT		ankyrin-like protein 1	Menthol(DB00825)						193.0	202.0	199.0					8																	72981353		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72981353G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.349C>T	8.37:g.72981353G>A	ENSP00000262209:p.Leu117Phe						p.L117F	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		3	524	-			117			Cytoplasmic (Potential).|ANK 2.		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.349C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376565	0.82682	.	.	ENSG00000104321	ENST00000262209	D	0.84070	-1.8	5.74	4.86	0.63082	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.90570	0.7044	M	0.77712	2.385	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90848	0.4729	10	0.56958	D	0.05	-22.6687	15.1597	0.72775	0.0691:0.0:0.9309:0.0	.	117	O75762	TRPA1_HUMAN	F	117	ENSP00000262209:L117F	ENSP00000262209:L117F	L	-	1	0	TRPA1	73143907	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.819000	0.69243	2.715000	0.92844	0.655000	0.94253	CTT		0.413	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2		NM_007332		44	187	0	0	0	0.009718	0	44	187		
KIAA1429	25962	broad.mit.edu	37	8	95523769	95523769	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:95523769G>A	ENST00000297591.5	-	13	3109	c.3034C>T	c.(3034-3036)Ctt>Ttt	p.L1012F	KIAA1429_ENST00000421249.2_Missense_Mutation_p.L1012F|KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000437199.1_Missense_Mutation_p.L1012F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1012					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTTTAAGAAGAGTGAGTGTG	0.448																																						uc003ygo.1		NaN																	0				ovary(1)|skin(1)	2						c.(3034-3036)CTT>TTT		hypothetical protein LOC25962 isoform 1							91.0	88.0	89.0					8																	95523769		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95523769G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3034C>T	8.37:g.95523769G>A	ENSP00000297591:p.Leu1012Phe					KIAA1429_uc003ygp.2_Missense_Mutation_p.L1012F|KIAA1429_uc010maz.1_RNA	p.L1012F	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		13	3047	-	Breast(36;3.29e-05)		1012					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.3034C>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167950	0.57476	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.67523	-0.26;-0.25;-0.27	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.74034	-0.3794	10	0.87932	D	0	-15.5949	12.8108	0.57639	0.075:0.0:0.925:0.0	.	1012;1012	Q69YN4-4;Q69YN4	.;VIR_HUMAN	F	1012	ENSP00000297591:L1012F;ENSP00000395600:L1012F;ENSP00000398390:L1012F	ENSP00000297591:L1012F	L	-	1	0	KIAA1429	95592945	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.189000	0.65098	2.678000	0.91216	0.650000	0.86243	CTT		0.448	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2		NM_015496		18	209	0	0	0	0.007413	0	18	209		
PABPC1	26986	broad.mit.edu	37	8	101719200	101719200	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:101719200G>A	ENST00000318607.5	-	10	2490	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Silent_p.I409I|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000522387.1_Silent_p.I422I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	454					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CAGCTGGGCGGATAGCACCGG	0.433																																						uc003yjs.1		NaN																	0					0						c.(1360-1362)ATC>ATT		poly(A) binding protein, cytoplasmic 1							72.0	69.0	70.0					8																	101719200		2203	4300	6503	SO:0001819	synonymous_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101719200G>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1362C>T	8.37:g.101719200G>A						PABPC1_uc011lhc.1_Silent_p.I422I|PABPC1_uc011lhd.1_Silent_p.I409I|PABPC1_uc003yjt.1_Silent_p.I451I|PABPC1_uc003yju.2_Intron	p.I454I	NM_002568	NP_002559	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		10	1866	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		454					Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	c.1362C>T	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365062	0.24684	.	.	ENSG00000070756	ENST00000517403	.	.	.	5.63	3.82	0.43975	.	.	.	.	.	T	0.61788	0.2375	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58211	-0.7676	4	.	.	.	.	10.9809	0.47494	0.0671:0.0:0.8029:0.1299	.	.	.	.	F	107	.	.	S	-	2	0	PABPC1	101788376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.483000	0.66838	0.841000	0.35020	0.650000	0.86243	TCC		0.433	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568		20	120	0	0	0	0.010504	0	20	120		
TRPS1	7227	broad.mit.edu	37	8	116616194	116616194	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:116616194C>G	ENST00000220888.5	-	3	2122	c.1963G>C	c.(1963-1965)Gat>Cat	p.D655H	TRPS1_ENST00000520276.1_Missense_Mutation_p.D659H|TRPS1_ENST00000519674.1_Missense_Mutation_p.D655H|TRPS1_ENST00000519076.1_Missense_Mutation_p.D409H|TRPS1_ENST00000395715.3_Missense_Mutation_p.D668H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	655	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGCTGCCCATCCGATCCTTGC	0.463									Langer-Giedion syndrome																													uc003ynz.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1963-1965)GAT>CAT		zinc finger transcription factor TRPS1							109.0	103.0	105.0					8																	116616194		2002	4169	6171	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616194C>G	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1963G>C	8.37:g.116616194C>G	ENSP00000220888:p.Asp655His					TRPS1_uc011lhy.1_Missense_Mutation_p.D659H|TRPS1_uc003yny.2_Missense_Mutation_p.D668H|TRPS1_uc010mcy.2_Missense_Mutation_p.D655H	p.D655H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	2422	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		655			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1963G>C		.	.	.	.	.	.	.	.	.	.	C	11.61	1.691221	0.30052	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	5.77	5.77	0.91146	.	0.276926	0.40144	N	0.001171	T	0.13756	0.0333	L	0.27053	0.805	0.45403	D	0.998389	B;B;P	0.40875	0.429;0.303;0.731	B;B;B	0.43274	0.414;0.236;0.414	T	0.01169	-1.1430	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	659;655;668	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	668;655;409;659;655	ENSP00000379065:D668H;ENSP00000220888:D655H;ENSP00000428910:D409H;ENSP00000428680:D659H;ENSP00000429174:D655H	ENSP00000220888:D655H	D	-	1	0	TRPS1	116685369	0.999000	0.42202	0.315000	0.25238	0.189000	0.23516	4.458000	0.60095	2.885000	0.99019	0.655000	0.94253	GAT		0.463	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3		NM_014112		15	94	0	0	0	0.003163	0	15	94		
TG	7038	broad.mit.edu	37	8	133913623	133913623	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:133913623G>C	ENST00000220616.4	+	16	3499	c.3459G>C	c.(3457-3459)aaG>aaC	p.K1153N	TG_ENST00000377869.1_Missense_Mutation_p.K1153N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1153	Thyroglobulin type-1 10. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGTGCTCAAGAGTGGAGTCC	0.607																																						uc003ytw.2		NaN																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(3457-3459)AAG>AAC		thyroglobulin precursor							81.0	77.0	79.0					8																	133913623		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133913623G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3459G>C	8.37:g.133913623G>C	ENSP00000220616:p.Lys1153Asn					TG_uc010mdw.2_Intron	p.K1153N	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	16	3500	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1153			Thyroglobulin type-1 10.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3459G>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375633	0.24857	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.63913	-0.07;-0.07	5.12	4.24	0.50183	Thyroglobulin type-1 (2);	2.021940	0.02453	N	0.085819	T	0.61236	0.2331	L	0.58428	1.81	0.09310	N	1	P	0.43231	0.801	B	0.37650	0.255	T	0.51988	-0.8635	10	0.72032	D	0.01	.	7.7196	0.28725	0.1884:0.0:0.8116:0.0	.	1153	P01266	THYG_HUMAN	N	1153	ENSP00000367100:K1153N;ENSP00000220616:K1153N	ENSP00000220616:K1153N	K	+	3	2	TG	133982805	0.019000	0.18553	0.255000	0.24374	0.376000	0.30014	1.895000	0.39778	1.154000	0.42482	0.655000	0.94253	AAG		0.607	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235		66	136	0	0	0	0.01441	0	66	136		
KIFC2	90990	broad.mit.edu	37	8	145697780	145697780	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:145697780C>G	ENST00000301332.2	+	15	2021	c.1644C>G	c.(1642-1644)gcC>gcG	p.A548A	KIFC2_ENST00000531423.1_3'UTR|FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000301331.5_Intron	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	548	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCGCCTGGCCGTGAGGCAGG	0.657																																						uc003zcz.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1642-1644)GCC>GCG		kinesin family member C2							23.0	28.0	26.0					8																	145697780		2200	4297	6497	SO:0001819	synonymous_variant	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145697780C>G	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1644C>G	8.37:g.145697780C>G						KIFC2_uc003zda.2_5'Flank	p.A548A	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		15	1709	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		548			Kinesin-motor.		E9PHB2|Q96NN6	Silent	SNP	ENST00000301332.2	37	c.1644C>G	CCDS6427.1																																																																																				0.657	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2		NM_145754		5	23	0	0	0	0.001168	0	5	23		
GPT	2875	broad.mit.edu	37	8	145732224	145732224	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:145732224C>T	ENST00000528431.1	+	11	1555	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	MFSD3_ENST00000301327.4_5'Flank|GPT_ENST00000394955.2_Silent_p.F466F			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	466					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CCTACCACTTCCGGTGAGGCC	0.637																																						uc011lli.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1396-1398)TTC>TTT		glutamic pyruvate transaminase	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						52.0	47.0	49.0					8																	145732224		2196	4296	6492	SO:0001819	synonymous_variant	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145732224C>T		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1398C>T	8.37:g.145732224C>T						GPT_uc003zdh.3_Silent_p.F466F|MFSD3_uc003zdi.1_5'Flank	p.F466F	NM_005309	NP_005300	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		11	1555	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		466					B0YJ18|D3DWM7|P78398|Q93076	Silent	SNP	ENST00000528431.1	37	c.1398C>T	CCDS6430.1																																																																																				0.637	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1				40	9	0	0	0	0.010771	0	40	9		
ACO1	48	broad.mit.edu	37	9	32450097	32450097	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:32450097G>C	ENST00000309951.6	+	21	2796	c.2658G>C	c.(2656-2658)aaG>aaC	p.K886N	ACO1_ENST00000541043.1_Missense_Mutation_p.K787N|ACO1_ENST00000379923.1_Missense_Mutation_p.K886N	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	886					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGATCCGCAAGATGGCCAAGT	0.592																																						uc003zqw.3		NaN																	0					0						c.(2656-2658)AAG>AAC		aconitase 1							113.0	101.0	105.0					9																	32450097		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32450097G>C	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2658G>C	9.37:g.32450097G>C	ENSP00000309477:p.Lys886Asn					ACO1_uc003zqx.3_Missense_Mutation_p.K886N|ACO1_uc003zqy.3_RNA	p.K886N	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	21	2813	+			886					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.2658G>C	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906493	0.52333	.	.	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.37058	1.22;1.22;2.23	5.56	2.74	0.32292	Aconitase/3-isopropylmalate dehydratase, swivel (2);	0.048530	0.85682	D	0.000000	T	0.23014	0.0556	L	0.41961	1.31	0.58432	D	0.999998	B	0.15473	0.013	B	0.10450	0.005	T	0.11179	-1.0598	10	0.02654	T	1	-16.7882	7.9775	0.30164	0.3193:0.0:0.6807:0.0	.	886	P21399	ACOC_HUMAN	N	886;886;787	ENSP00000309477:K886N;ENSP00000369255:K886N;ENSP00000438733:K787N	ENSP00000309477:K886N	K	+	3	2	ACO1	32440097	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.850000	0.48294	0.723000	0.32274	-0.136000	0.14681	AAG		0.592	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3		NM_002197		21	42	0	0	0	0.014323	0	21	42		
UBAP2	55833	broad.mit.edu	37	9	33943441	33943441	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:33943441G>A	ENST00000379238.1	-	15	1809	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	UBAP2_ENST00000360802.1_Silent_p.I564I|UBAP2_ENST00000418786.2_Silent_p.I511I|UBAP2_ENST00000449054.1_Silent_p.I564I|UBAP2_ENST00000539807.1_Silent_p.I319I|UBAP2_ENST00000379239.4_Silent_p.I297I|UBAP2_ENST00000379225.1_Silent_p.I197I					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AATACAAGCTGATGGGAATCT	0.393																																						uc003ztq.1		NaN																	0				ovary(3)	3						c.(1690-1692)ATC>ATT		ubiquitin associated protein 2							87.0	85.0	86.0					9																	33943441		2203	4300	6503	SO:0001819	synonymous_variant	55833							g.chr9:33943441G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1692C>T	9.37:g.33943441G>A						UBAP2_uc011loc.1_Silent_p.I473I|UBAP2_uc011lod.1_Silent_p.I297I|UBAP2_uc011loe.1_Silent_p.I319I|UBAP2_uc011lof.1_Silent_p.I489I|UBAP2_uc011log.1_Silent_p.I510I|UBAP2_uc003ztr.2_Silent_p.I436I|UBAP2_uc003zts.2_Silent_p.I197I	p.I564I	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	15	1805	-			564						Silent	SNP	ENST00000379238.1	37	c.1692C>T	CCDS6547.1																																																																																				0.393	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1		NM_018449		27	60	0	0	0	0.008361	0	27	60		
UBAP2	55833	broad.mit.edu	37	9	34017107	34017107	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:34017107G>A	ENST00000379238.1	-	2	157	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	RNU7-36P_ENST00000516597.1_RNA|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000360802.1_Missense_Mutation_p.R14W|UBAP2_ENST00000418786.2_Missense_Mutation_p.R14W|UBAP2_ENST00000449054.1_Missense_Mutation_p.R14W|UBAP2_ENST00000539807.1_5'UTR|UBAP2_ENST00000379239.4_Intron					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGTTTTTCCCGAGCACCTCGA	0.363																																						uc003ztq.1		NaN																	0				ovary(3)	3						c.(40-42)CGG>TGG		ubiquitin associated protein 2							138.0	117.0	124.0					9																	34017107		2203	4300	6503	SO:0001583	missense	55833							g.chr9:34017107G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.40C>T	9.37:g.34017107G>A	ENSP00000368540:p.Arg14Trp					UBAP2_uc011loc.1_5'UTR|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_5'UTR|UBAP2_uc011lof.1_5'UTR|UBAP2_uc011log.1_Missense_Mutation_p.R13W|UBAP2_uc003ztr.2_5'UTR	p.R14W	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	2	153	-			14						Missense_Mutation	SNP	ENST00000379238.1	37	c.40C>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864612	0.71949	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.82	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	L	0.38838	1.175	0.80722	D	1	P;P	0.47034	0.534;0.889	B;B	0.41135	0.097;0.348	T	0.02539	-1.1144	10	0.41790	T	0.15	-9.2197	15.1069	0.72329	0.068:0.0:0.932:0.0	.	14;14	E7EWG4;Q5T6F2	.;UBAP2_HUMAN	W	14	ENSP00000368540:R14W;ENSP00000416932:R14W;ENSP00000354039:R14W;ENSP00000404436:R14W;ENSP00000414800:R14W	ENSP00000259602:R14W	R	-	1	2	UBAP2	34007107	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.986000	0.88173	1.471000	0.48121	0.655000	0.94253	CGG		0.363	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1		NM_018449		15	80	0	0	0	0.006122	0	15	80		
DNAJB5	25822	broad.mit.edu	37	9	34996695	34996695	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:34996695C>G	ENST00000541010.1	+	2	3657	c.645C>G	c.(643-645)atC>atG	p.I215M	DNAJB5_ENST00000312316.5_Missense_Mutation_p.I215M|DNAJB5_ENST00000335998.3_Missense_Mutation_p.I249M|DNAJB5_ENST00000454002.2_Missense_Mutation_p.I287M|DNAJB5_ENST00000453597.3_Missense_Mutation_p.I329M|DNAJB5_ENST00000545841.1_Missense_Mutation_p.I215M			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	215					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACATAGTCATCAAGCGTGGCT	0.552																																						uc003zvt.2		NaN																	0					0						c.(643-645)ATC>ATG		DnaJ (Hsp40) homolog, subfamily B, member 5							68.0	61.0	63.0					9																	34996695		2203	4300	6503	SO:0001583	missense	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34996695C>G	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.645C>G	9.37:g.34996695C>G	ENSP00000443151:p.Ile215Met					DNAJB5_uc003zvs.2_Missense_Mutation_p.I249M|DNAJB5_uc011los.1_Missense_Mutation_p.I287M	p.I215M	NM_012266	NP_036398	O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	783	+			215					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Missense_Mutation	SNP	ENST00000541010.1	37	c.645C>G	CCDS35007.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396010	0.62177	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000378751;ENST00000312316;ENST00000541010;ENST00000454002;ENST00000545841	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.14	3.27	0.37495	HSP40/DnaJ peptide-binding (1);	0.105811	0.64402	D	0.000005	T	0.69513	0.3119	M	0.90814	3.15	0.58432	D	0.999992	D;D	0.67145	0.996;0.996	D;D	0.68353	0.957;0.938	T	0.72465	-0.4285	10	0.87932	D	0	.	9.0496	0.36367	0.1474:0.7757:0.0:0.0768	.	287;215	B4DSA6;O75953	.;DNJB5_HUMAN	M	329;249;215;215;215;287;215	ENSP00000404079:I329M;ENSP00000337626:I249M;ENSP00000312517:I215M;ENSP00000443151:I215M;ENSP00000413684:I287M;ENSP00000441999:I215M	ENSP00000312517:I215M	I	+	3	3	DNAJB5	34986695	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.501000	0.45389	0.736000	0.32559	0.555000	0.69702	ATC		0.552	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1				11	34	0	0	0	0.013537	0	11	34		
SPATA31A6	389730	broad.mit.edu	37	9	43624988	43624988	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:43624988C>G	ENST00000332857.6	-	4	3727	c.3699G>C	c.(3697-3699)caG>caC	p.Q1233H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1233					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTGAAACTTCTGTTTGTGCT	0.502																																						uc011lrb.1		NaN																	0					0						c.(3697-3699)CAG>CAC		hypothetical protein LOC389730							10.0	11.0	11.0					9																	43624988		607	1532	2139	SO:0001583	missense	389730					integral to membrane		g.chr9:43624988C>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3699G>C	9.37:g.43624988C>G	ENSP00000329825:p.Gln1233His						p.Q1233H	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3728	-			1233						Missense_Mutation	SNP	ENST00000332857.6	37	c.3699G>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695303	0.30052	.	.	ENSG00000185775	ENST00000332857	T	0.03951	3.75	2.33	0.336	0.15958	.	0.583280	0.14165	N	0.337073	T	0.07638	0.0192	L	0.52573	1.65	0.09310	N	1	P	0.40638	0.725	P	0.49276	0.605	T	0.25984	-1.0116	10	0.41790	T	0.15	-0.4643	4.2573	0.10724	0.0:0.6209:0.0:0.3791	.	1233	Q5VVP1	F75A6_HUMAN	H	1233	ENSP00000329825:Q1233H	ENSP00000329825:Q1233H	Q	-	3	2	FAM75A6	43564984	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.177000	0.09796	0.093000	0.17368	0.383000	0.25322	CAG		0.502	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1		NM_001145196		86	507	0	0	0	0.01441	0	86	507		
APBA1	320	broad.mit.edu	37	9	72131394	72131394	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:72131394C>T	ENST00000265381.4	-	2	955	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	245	Munc-18-1 binding.				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)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTGTCGGACTCGCCGTCGGAG	0.701																																						uc004ahh.2		NaN																	0				lung(1)	1						c.(733-735)GAG>AAG		amyloid beta A4 precursor protein-binding,							27.0	22.0	24.0					9																	72131394		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131394C>T	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.733G>A	9.37:g.72131394C>T	ENSP00000265381:p.Glu245Lys						p.E245K	NM_001163	NP_001154	Q02410	APBA1_HUMAN			2	1009	-			245			Munc-18-1 binding.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.733G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218671	0.79464	.	.	ENSG00000107282	ENST00000265381	T	0.05855	3.38	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.06142	0.0159	L	0.29908	0.895	0.58432	D	0.999999	B	0.29612	0.251	B	0.15052	0.012	T	0.46091	-0.9216	10	0.15066	T	0.55	.	19.9961	0.97386	0.0:1.0:0.0:0.0	.	245	Q02410	APBA1_HUMAN	K	245	ENSP00000265381:E245K	ENSP00000265381:E245K	E	-	1	0	APBA1	71321214	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.463000	0.80869	2.744000	0.94065	0.561000	0.74099	GAG		0.701	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2		NM_001163		16	27	0	0	0	0.012319	0	16	27		
FAM120A	23196	broad.mit.edu	37	9	96214620	96214620	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:96214620C>G	ENST00000277165.6	+	1	617	c.423C>G	c.(421-423)ccC>ccG	p.P141P	FAM120AOS_ENST00000479094.1_5'Flank|FAM120A_ENST00000340893.4_Silent_p.P141P|FAM120AOS_ENST00000423591.1_5'Flank|FAM120A_ENST00000333936.5_Silent_p.P141P|FAM120A_ENST00000375389.3_Silent_p.P141P|FAM120AOS_ENST00000375412.5_Silent_p.T124T	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	141						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCTGCCGCCCGTCTGCATGG	0.716																																						uc004atw.2		NaN																	0					0						c.(421-423)CCC>CCG		oxidative stress-associated Src activator							20.0	23.0	22.0					9																	96214620		2176	4262	6438	SO:0001819	synonymous_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96214620C>G	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.423C>G	9.37:g.96214620C>G						FAM120AOS_uc004atm.2_5'Flank|FAM120AOS_uc004atn.3_5'Flank|FAM120AOS_uc004ato.3_5'Flank|FAM120AOS_uc004atp.3_5'Flank|FAM120AOS_uc004atq.3_5'Flank|FAM120AOS_uc004atr.3_5'Flank|FAM120AOS_uc004ats.3_Intron|FAM120AOS_uc004att.3_Intron|FAM120AOS_uc004atu.3_Silent_p.T124T|FAM120A_uc004atv.2_Silent_p.P141P	p.P141P	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN			1	448	+			141					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	c.423C>G	CCDS6706.1																																																																																				0.716	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2		NM_014612		6	41	0	0	0	0.00308	0	6	41		
FPGS	2356	broad.mit.edu	37	9	130570856	130570856	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:130570856C>T	ENST00000373247.2	+	10	892	c.842C>T	c.(841-843)cCg>cTg	p.P281L	FPGS_ENST00000373245.1_Intron|FPGS_ENST00000393706.2_Missense_Mutation_p.P255L|FPGS_ENST00000373225.3_Missense_Mutation_p.P231L|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	281					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	TACCTGTGTCCGATGCTGGAG	0.692																																						uc004bsg.1		NaN																	0					0						c.(841-843)CCG>CTG		folylpolyglutamate synthase isoform a precursor	L-Glutamic Acid(DB00142)						16.0	16.0	16.0					9																	130570856		2202	4297	6499	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130570856C>T		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.842C>T	9.37:g.130570856C>T	ENSP00000362344:p.Pro281Leu					FPGS_uc004bsh.1_Missense_Mutation_p.P98L|FPGS_uc011mal.1_Missense_Mutation_p.P255L|FPGS_uc004bsi.1_Missense_Mutation_p.P231L	p.P281L	NM_004957	NP_004948	Q05932	FOLC_HUMAN			10	892	+			281					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.842C>T	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802765	0.70682	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.16324	2.73;2.71;2.35	5.21	5.21	0.72293	Mur ligase, central (2);	0.159500	0.56097	D	0.000024	T	0.41534	0.1163	M	0.82630	2.6	0.80722	D	1	D;D	0.76494	0.993;0.999	P;P	0.58928	0.766;0.848	T	0.43814	-0.9368	10	0.72032	D	0.01	-15.95	15.4686	0.75422	0.0:1.0:0.0:0.0	.	255;281	Q05932-4;Q05932	.;FOLC_HUMAN	L	281;255;231	ENSP00000362344:P281L;ENSP00000377309:P255L;ENSP00000362322:P231L	ENSP00000362322:P231L	P	+	2	0	FPGS	129610677	1.000000	0.71417	0.953000	0.39169	0.149000	0.21700	6.995000	0.76257	2.450000	0.82876	0.462000	0.41574	CCG		0.692	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1				9	20	0	0	0	0.013537	0	9	20		
TOR1A	1861	broad.mit.edu	37	9	132584943	132584943	+	Missense_Mutation	SNP	C	C	T	rs199535970		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:132584943C>T	ENST00000351698.4	-	2	409	c.361G>A	c.(361-363)Gag>Aag	p.E121K	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	121	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AGACCACCCTCGTAAATATTC	0.488																																						uc004byl.2		NaN																	0				central_nervous_system(1)	1						c.(361-363)GAG>AAG		torsin A precursor		C	LYS/GLU	0,4406		0,0,2203	208.0	173.0	185.0		361	3.3	0.1	9		185	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TOR1A	NM_000113.2	56	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	121/333	132584943	3,13003	2203	4300	6503	SO:0001583	missense	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132584943C>T	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.361G>A	9.37:g.132584943C>T	ENSP00000345719:p.Glu121Lys					TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Missense_Mutation_p.E121K	p.E121K	NM_000113	NP_000104	O14656	TOR1A_HUMAN			2	438	-		Ovarian(14;0.00556)	121					B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	c.361G>A	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.537950	0.00942	0.0	3.49E-4	ENSG00000136827	ENST00000351698	T	0.40225	1.04	5.21	3.3	0.37823	.	0.192921	0.56097	D	0.000039	T	0.07188	0.0182	N	0.00337	-1.62	0.23095	N	0.998309	P;B	0.38455	0.632;0.002	B;B	0.20577	0.03;0.007	T	0.42531	-0.9446	10	0.02654	T	1	-22.9644	8.3781	0.32455	0.0:0.6022:0.3105:0.0873	.	121;121	O14656-2;O14656	.;TOR1A_HUMAN	K	121	ENSP00000345719:E121K	ENSP00000345719:E121K	E	-	1	0	TOR1A	131624764	0.017000	0.18338	0.062000	0.19696	0.001000	0.01503	0.161000	0.16481	0.545000	0.28902	-0.305000	0.09177	GAG		0.488	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1		NM_000113		39	150	0	0	0	0.005524	0	39	150		
VAV2	7410	broad.mit.edu	37	9	136634579	136634579	+	Silent	SNP	G	G	A	rs375135670		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:136634579G>A	ENST00000371850.3	-	28	2425	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	VAV2_ENST00000371851.1_Silent_p.L788L|VAV2_ENST00000406606.3_Intron	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	798					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		AAGCAAAGCTGAGGCCCTGAG	0.632																																						uc004ces.2		NaN																	0				central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(2392-2394)CTC>CTT		vav 2 guanine nucleotide exchange factor isoform		G	,	1,3133		0,1,1566	61.0	60.0	61.0		2394,	2.2	1.0	9		61	0,7164		0,0,3582	no	coding-synonymous,intron	VAV2	NM_001134398.1,NM_003371.3	,	0,1,5148	AA,AG,GG		0.0,0.0319,0.0097	,	798/879,	136634579	1,10297	1567	3582	5149	SO:0001819	synonymous_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136634579G>A		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2394C>T	9.37:g.136634579G>A						VAV2_uc004cer.2_Intron	p.L798L	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	28	2440	-			798					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	c.2394C>T	CCDS48053.1																																																																																				0.632	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1				5	24	0	0	0	0.000602	0	5	24		
GATA1	2623	broad.mit.edu	37	X	48650333	48650333	+	Silent	SNP	G	G	A	rs145355350		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:48650333G>A	ENST00000376670.3	+	3	414	c.303G>A	c.(301-303)acG>acA	p.T101T	GATA1_ENST00000376665.3_Silent_p.T101T	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	101					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ACGGCAAGACGGGGCTCTACC	0.612			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.3		NaN		Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		3	Unknown(2)|Complex - deletion inframe(1)	p.?(2)|p.V74_C199del(1)|p.V77_A120>A(1)	haematopoietic_and_lymphoid_tissue(3)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(301-303)ACG>ACA		GATA binding protein 1		A		2,3833		0,2,1630,571	50.0	48.0	48.0		303	-9.2	0.1	X	dbSNP_134	48	1,6727		0,1,2427,1872	no	coding-synonymous	GATA1	NM_002049.3		0,3,4057,2443	AA,AG,GG,G		0.0149,0.0522,0.0284		101/414	48650333	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650333G>A	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.303G>A	X.37:g.48650333G>A							p.T101T	NM_002049	NP_002040	P15976	GATA1_HUMAN			3	394	+			101					Q96GB8	Silent	SNP	ENST00000376670.3	37	c.303G>A	CCDS14305.1																																																																																				0.612	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1		NM_002049		38	4	0	0	0	0.004878	0	38	4		
AWAT2	158835	broad.mit.edu	37	X	69262998	69262998	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:69262998A>T	ENST00000276101.3	-	5	573	c.568T>A	c.(568-570)Tgc>Agc	p.C190S		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	190					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						CTGTATCTGCACTCAGCCAGT	0.547																																					NSCLC(80;1334 1436 9350 24214 26427)	uc004dxt.1		NaN																	0					0						c.(568-570)TGC>AGC		wax synthase 2							62.0	45.0	51.0					X																	69262998		2203	4299	6502	SO:0001583	missense	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69262998A>T	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.568T>A	X.37:g.69262998A>T	ENSP00000421172:p.Cys190Ser						p.C190S	NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN			5	574	-			190					Q6IEE3|Q6P437	Missense_Mutation	SNP	ENST00000276101.3	37	c.568T>A	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432110	0.43122	.	.	ENSG00000147160	ENST00000276101	D	0.92858	-3.12	5.12	5.12	0.69794	.	0.078756	0.52532	D	0.000061	T	0.75817	0.3901	N	0.03029	-0.43	0.37267	D	0.907224	P	0.40398	0.716	B	0.35039	0.194	T	0.80819	-0.1212	10	0.05525	T	0.97	.	11.6862	0.51487	1.0:0.0:0.0:0.0	.	190	Q6E213	AWAT2_HUMAN	S	190	ENSP00000421172:C190S	ENSP00000421172:C190S	C	-	1	0	AWAT2	69179723	1.000000	0.71417	0.909000	0.35828	0.965000	0.64279	6.227000	0.72282	1.887000	0.54652	0.417000	0.27973	TGC		0.547	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1		NM_001002254		3	6	0	0	0	0.009096	0	3	6		
NXF5	55998	broad.mit.edu	37	X	101095527	101095527	+	Silent	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:101095527T>C	ENST00000361708.2	-	10	1001	c.642A>G	c.(640-642)ctA>ctG	p.L214L	NXF5_ENST00000473265.2_Silent_p.L214L|NXF5_ENST00000537026.1_Silent_p.L214L			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	214					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTTCTAGCCATAGCTCTTCGA	0.577																																						uc011mrk.1		NaN																	0				central_nervous_system(1)	1						c.(640-642)CTA>CTG		nuclear RNA export factor 5							63.0	55.0	58.0					X																	101095527		2119	4153	6272	SO:0001819	synonymous_variant	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101095527T>C	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.642A>G	X.37:g.101095527T>C						NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	p.L214L	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			10	1002	-			214			LRR 3.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Silent	SNP	ENST00000361708.2	37	c.642A>G																																																																																					0.577	NXF5-201	KNOWN	basic	protein_coding	protein_coding					14	70	0	0	0	0.010504	0	14	70		
WDR44	54521	broad.mit.edu	37	X	117578414	117578414	+	Missense_Mutation	SNP	C	C	G	rs376879420		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:117578414C>G	ENST00000254029.3	+	19	2999	c.2604C>G	c.(2602-2604)aaC>aaG	p.N868K	WDR44_ENST00000371825.3_Missense_Mutation_p.N860K|WDR44_ENST00000371822.5_Missense_Mutation_p.N779K	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	868						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CAGAAGGGAACGAGAAAAGTG	0.388																																						uc004eqn.2		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(2602-2604)AAC>AAG		WD repeat domain 44 protein							153.0	135.0	141.0					X																	117578414		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117578414C>G	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.2604C>G	X.37:g.117578414C>G	ENSP00000254029:p.Asn868Lys					WDR44_uc004eqo.2_Missense_Mutation_p.N860K|WDR44_uc011mtr.1_Missense_Mutation_p.N779K|WDR44_uc010nqi.2_Missense_Mutation_p.N578K	p.N868K	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			19	3029	+			868					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.2604C>G	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.268|0.268	-0.994765|-0.994765	0.02145|0.02145	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825;ENST00000318919|ENST00000371848	T;T;T|.	0.71698|.	-0.59;-0.03;0.1|.	5.29|5.29	-8.06|-8.06	0.01102|0.01102	.|.	0.664722|.	0.16249|.	N|.	0.222785|.	T|T	0.19446|0.19446	0.0467|0.0467	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.25441|.	0.035;0.126;0.102;0.011|.	B;B;B;B|.	0.23018|.	0.043;0.039;0.038;0.019|.	T|T	0.32903|0.32903	-0.9889|-0.9889	10|5	0.06494|.	T|.	0.89|.	-3.0E-4|-3.0E-4	12.5098|12.5098	0.56000|0.56000	0.0871:0.2332:0.0:0.6797|0.0871:0.2332:0.0:0.6797	.|.	779;868;860;868|.	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3|.	.;.;.;WDR44_HUMAN|.	K|G	779;868;860;254|768	ENSP00000360887:N779K;ENSP00000254029:N868K;ENSP00000360890:N860K|.	ENSP00000254029:N868K|.	N|R	+|+	3|1	2|2	WDR44|WDR44	117462442|117462442	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.026000|0.026000	0.11368|0.11368	-0.851000|-0.851000	0.04313|0.04313	-2.140000|-2.140000	0.00806|0.00806	-1.918000|-1.918000	0.00516|0.00516	AAC|CGA		0.388	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1		NM_019045		44	52	0	0	0	0.011902	0	44	52		
SV2A	9900	broad.mit.edu	37	1	149885018	149885019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:149885018_149885019insC	ENST00000369146.3	-	2	864_865	c.374_375insG	c.(373-375)ggcfs	p.G125fs	SV2A_ENST00000369145.1_Frame_Shift_Ins_p.G125fs	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	125					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629																																						uc001etg.2		NaN																	0				ovary(6)|pancreas(1)	7						c.(373-375)GGCfs		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)																																			SO:0001589	frameshift_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885018_149885019insC	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.375dupG	1.37:g.149885025_149885025dupC	ENSP00000358142:p.Gly125fs					SV2A_uc001eth.2_Frame_Shift_Ins_p.G125fs	p.G125fs	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	865_866	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		125			Cytoplasmic (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Frame_Shift_Ins	INS	ENST00000369146.3	37	c.374_375insG	CCDS940.1																																																																																				0.629	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1				7	843	NaN	NaN	NaN	NaN	NaN	7	843	---	---
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gaggac>gac	p.E171del	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_In_Frame_Del_p.E171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	171	PEST-like.				apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635																																						uc001euz.2		NaN																	0					0						c.(511-516)GAGGAC>GAC		myeloid cell leukemia sequence 1 isoform 1			,,	70,4190		29,12,2089					,,	1.0	1.0			54	109,8145		46,17,4064	no	coding,coding,intron	MCL1	NM_182763.2,NM_021960.4,NM_001197320.1	,,	75,29,6153	A1A1,A1R,RR		1.3206,1.6432,1.4304	,,	,,		179,12335				SO:0001651	inframe_deletion	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551492_150551494delTCC	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.513_515delGGA	1.37:g.150551501_150551503delTCC	ENSP00000358022:p.Glu171del					MCL1_uc010pch.1_In_Frame_Del_p.E61del|MCL1_uc001eva.2_In_Frame_Del_p.E171del	p.E171del	NM_021960	NP_068779	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	643_645	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		171			PEST-like.		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	In_Frame_Del	DEL	ENST00000369026.2	37	c.513_515delGGA	CCDS957.1																																																																																				0.635	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1		NM_021960		9	397	NaN	NaN	NaN	NaN	NaN	9	397	---	---
LRP4	4038	broad.mit.edu	37	11	46916236	46916243	+	Frame_Shift_Del	DEL	CAAGCTCG	CAAGCTCG	-	rs201502598|rs141108617		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:46916236_46916243delCAAGCTCG	ENST00000378623.1	-	12	1679_1686	c.1437_1444delCGAGCTTG	c.(1435-1446)cgcgagcttgtcfs	p.ELV480fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	480					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GACCAGAAGACAAGCTCGCGGCGGTGGT	0.587																																						uc001ndn.3		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1435-1446)CGCGAGCTTGTCfs		low density lipoprotein receptor-related protein																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46916236_46916243delCAAGCTCG	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1437_1444delCGAGCTTG	11.37:g.46916236_46916243delCAAGCTCG	ENSP00000367888:p.Glu480fs						p.R479fs	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	12	1583_1590	-			479_482			Extracellular (Potential).|LDL-receptor class B 1.		B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Del	DEL	ENST00000378623.1	37	c.1437_1444delCGAGCTTG	CCDS31478.1																																																																																				0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1		NM_002334		11	51	NaN	NaN	NaN	NaN	NaN	11	51	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					uc010saa.1		NaN																	0				skin(1)	1						c.(301-306)CTGTTTfs		olfactory receptor, family 8, subfamily D,				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.L101fs	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	303_304	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101_102			Helical; Name=3; (Potential).		Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1		NM_001005197		8	274	NaN	NaN	NaN	NaN	NaN	8	274	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:40282508delT	ENST00000263791.5	+	16	2604	c.2561delT	c.(2560-2562)attfs	p.I854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358																																						uc001zkm.1		NaN																	0				lung(2)|stomach(1)|skin(1)	4						c.(2560-2562)ATTfs		eukaryotic translation initiation factor 2 alpha							233.0	220.0	224.0					15																	40282508		1840	4082	5922	SO:0001589	frameshift_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40282508delT	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2561delT	15.37:g.40282508delT	ENSP00000263791:p.Ile854fs					EIF2AK4_uc010bbj.1_Frame_Shift_Del_p.I555fs|EIF2AK4_uc001zkn.1_5'Flank	p.I854fs	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	16	2611	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	854			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Frame_Shift_Del	DEL	ENST00000263791.5	37	c.2561delT	CCDS42016.1																																																																																				0.358	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1				8	302	NaN	NaN	NaN	NaN	NaN	8	302	---	---
TP53	7157	broad.mit.edu	37	17	7579413	7579414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:7579413_7579414insC	ENST00000269305.4	-	4	462_463	c.273_274insG	c.(271-276)tggcccfs	p.P92fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.P92fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P92fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P92fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P92fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P92fs	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	92	Interaction with WWOX.		P -> A (in a sporadic cancer; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> S (in a sporadic cancer; 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.W91*(13)|p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93fs*30(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.P92A(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)	GATGACAGGGGCCAGGAGGGGG	0.629		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		35	Substitution - Nonsense(13)|Deletion - Frameshift(12)|Whole gene deletion(8)|Substitution - Missense(1)|Insertion - Frameshift(1)	p.W91*(11)|p.0?(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93fs*30(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.P92A(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)	lung(10)|upper_aerodigestive_tract(6)|breast(4)|bone(4)|urinary_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|prostate(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM065495	TP53	M		c.(271-276)TGGCCCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	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.chr17:7579413_7579414insC	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.274dupG	17.37:g.7579415_7579415dupC	ENSP00000269305:p.Pro92fs	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_Frame_Shift_Ins_p.W91fs|TP53_uc002gih.2_Frame_Shift_Ins_p.W91fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.W91fs|TP53_uc010cni.1_Frame_Shift_Ins_p.W91fs|TP53_uc002gij.2_Frame_Shift_Ins_p.W91fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.W52fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.W106fs	p.W91fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	467_468	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	91_92		P -> S (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.273_274insG	CCDS11118.1																																																																																				0.629	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		97	16	NaN	NaN	NaN	NaN	NaN	97	16	---	---
WDR33	55339	broad.mit.edu	37	2	128471200	128471200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:128471200delG	ENST00000322313.4	-	18	3423	c.3265delC	c.(3265-3267)cggfs	p.R1089fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1089					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCGGGATCCCGGGGGAAACGT	0.617																																						uc002tpg.1		NaN																	0					0						c.(3265-3267)CGGfs		WD repeat domain 33 isoform 1							108.0	116.0	113.0					2																	128471200		2203	4300	6503	SO:0001589	frameshift_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471200delG		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3265delC	2.37:g.128471200delG	ENSP00000325377:p.Arg1089fs						p.R1089fs	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3448	-	Colorectal(110;0.1)		1089					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Del	DEL	ENST00000322313.4	37	c.3265delC	CCDS2150.1																																																																																				0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2		NM_018383		7	607	NaN	NaN	NaN	NaN	NaN	7	607	---	---
EP300	2033	broad.mit.edu	37	22	41572411	41572411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:41572411delC	ENST00000263253.7	+	30	6159	c.4940delC	c.(4939-4941)gccfs	p.A1647fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1647	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTCCGAAGAGCCCAGTGGTCC	0.572			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4939-4941)GCCfs		E1A binding protein p300							97.0	78.0	84.0					22																	41572411		2203	4300	6503	SO:0001589	frameshift_variant	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41572411delC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4940delC	22.37:g.41572411delC	ENSP00000263253:p.Ala1647fs						p.A1647fs	NM_001429	NP_001420	Q09472	EP300_HUMAN			30	5335	+			1647			Binding region for E1A adenovirus.		B1AKC2	Frame_Shift_Del	DEL	ENST00000263253.7	37	c.4940delC	CCDS14010.1																																																																																				0.572	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		27	68	NaN	NaN	NaN	NaN	NaN	27	68	---	---
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(643-645)aggfs	p.R215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.R76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653																																						uc003emu.2		NaN																	0				skin(1)	1						c.(640-645)GCTAGGfs		H1 histone family, member O, oocyte-specific																																				SO:0001589	frameshift_variant	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129268107_129268108insA	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.643dupA	3.37:g.129268108_129268108dupA	ENSP00000319799:p.Arg215fs					H1FOO_uc003emv.2_Frame_Shift_Ins_p.A75fs	p.A214fs	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN			3	647_648	+			214_215					Q86WT7	Frame_Shift_Ins	INS	ENST00000324382.2	37	c.642_643insA	CCDS3064.1																																																																																				0.653	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3		NM_153833		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
SLC25A4	291	broad.mit.edu	37	4	186067010	186067011	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:186067010_186067011insA	ENST00000281456.6	+	3	828_829	c.696_697insA	c.(697-699)actfs	p.T233fs		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	233					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	ACCCCTTTGACACTGTTCGTCG	0.52																																						uc003ixd.2		NaN																	0				ovary(1)	1						c.(694-699)GACACTfs		adenine nucleotide translocator 1	Adenosine triphosphate(DB00171)|Clodronate(DB00720)																																			SO:0001589	frameshift_variant	291				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding	g.chr4:186067010_186067011insA	BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"""Solute carriers"""	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.697dupA	4.37:g.186067011_186067011dupA	ENSP00000281456:p.Thr233fs					SLC25A4_uc003ixe.2_RNA	p.D232fs	NM_001151	NP_001142	P12235	ADT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	825_826	+		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	232_233			Helical; Name=5; (By similarity).|Solcar 3.		D3DP59	Frame_Shift_Ins	INS	ENST00000281456.6	37	c.696_697insA	CCDS34114.1																																																																																				0.520	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3		NM_001151		30	12	NaN	NaN	NaN	NaN	NaN	30	12	---	---
FOXQ1	94234	broad.mit.edu	37	6	1313374	1313376	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08			CAA	-	CAA	CAA		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:1313374_1313376delCAA	ENST00000296839.2	+	1	700_702	c.435_437delCAA	c.(433-438)atcaac>atc	p.N146del		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	146					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TGGCGGAGATCAACGAGTACCTC	0.64																																						uc003mtl.3		NaN																	0					0						c.(433-438)ATCAAC>ATC		forkhead box Q1																																				SO:0001651	inframe_deletion	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313374_1313376delCAA	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.435_437delCAA	6.37:g.1313374_1313376delCAA	ENSP00000296839:p.Asn146del						p.N146del	NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	700_702	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	146			Fork-head.		Q9NS06	In_Frame_Del	DEL	ENST00000296839.2	37	c.435_437delCAA	CCDS4471.1																																																																																				0.640	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1		NM_033260		22	88	NaN	NaN	NaN	NaN	NaN	22	88	---	---
SLC17A2	10246	broad.mit.edu	37	6	25921520	25921520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:25921520delT	ENST00000265425.3	-	3	381	c.361delA	c.(361-363)atgfs	p.M121fs	SLC17A2_ENST00000377850.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	121					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.M121fs*7(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCACCAAGCATTTTTTTTGCT	0.453																																						uc011dkb.1		NaN																	1	Deletion - Frameshift(1)		ovary(1)	ovary(1)	1						c.(361-363)ATGfs		SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;				26,4238		13,0,2119	136.0	124.0	128.0			5.0	1.0	6		129	35,8219		16,3,4108	no	frameshift	SLC17A2	NM_005835.2		29,3,6227	A1A1,A1R,RR		0.424,0.6098,0.4873			25921520	61,12457	2203	4300	6503	SO:0001589	frameshift_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25921520delT	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.361delA	6.37:g.25921520delT	ENSP00000265425:p.Met121fs					SLC17A2_uc011dkc.1_Frame_Shift_Del_p.M121fs|SLC17A2_uc003nfl.2_Frame_Shift_Del_p.M121fs	p.M121fs			O00624	NPT3_HUMAN			3	444	-			121					A6NK81|A6NLD6|Q5TB84|Q76P85	Frame_Shift_Del	DEL	ENST00000265425.3	37	c.361delA																																																																																					0.453	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1				7	236	NaN	NaN	NaN	NaN	NaN	7	236	---	---
SOGA3	387104	broad.mit.edu	37	6	127804080	127804080	+	Frame_Shift_Del	DEL	T	T	-	rs34142169		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:127804080delT	ENST00000525778.1	-	5	2280	c.1535delA	c.(1534-1536)aagfs	p.K512fs	SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000556132.1_Frame_Shift_Del_p.K512fs			Q5TF21	SOGA3_HUMAN	SOGA family member 3	512					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTGTTGAGCCTTTTTTTCAGA	0.294																																						uc003qbd.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(1534-1536)AAGfs		hypothetical protein LOC387104 precursor							133.0	121.0	125.0					6																	127804080		1790	4063	5853	SO:0001589	frameshift_variant	387104					integral to membrane		g.chr6:127804080delT	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1535delA	6.37:g.127804080delT	ENSP00000434570:p.Lys512fs						p.K512fs	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	5	2400	-			512			Potential.			Frame_Shift_Del	DEL	ENST00000525778.1	37	c.1535delA	CCDS43505.1																																																																																				0.294	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1		NM_001012279		13	925	NaN	NaN	NaN	NaN	NaN	13	925	---	---
