#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_refseq_mrna_id	i_secondary_variant_classification	i_type
HIVEP3	59269	broad.mit.edu	37	1	42049463	42049463	+	Nonsense_Mutation	SNP	C	C	A	rs138035647	byFrequency	TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr1:42049463C>A	ENST00000372583.1	-	4	1891	c.1006G>T	c.(1006-1008)Gaa>Taa	p.E336*	HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.E336*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.E336*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.E336*	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	336	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E336*(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGGGTCTTCGAGTGACTGG	0.587																																																1	Substitution - Nonsense(1)	ovary(1)	1											88.0	94.0	92.0					1																	42049463		2203	4300	6503	41822050	SO:0001587	stop_gained	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1006G>T	1.37:g.42049463C>A	ENSP00000361664:p.Glu336*	Unknown		x	x	x	41822050	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	41	9.135593	0.99077	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	5.15	5.15	0.70609	.	0.000000	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-21.5693	18.4234	0.90600	0.0:1.0:0.0:0.0	.	.	.	.	X	336	.	ENSP00000247584:E336X	E	-	1	0	HIVEP3	41822050	0.981000	0.34729	0.978000	0.43139	0.310000	0.27922	2.575000	0.46025	2.689000	0.91719	0.655000	0.94253	GAA		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		Nonsense_Mutation
CCAR1	55749	broad.mit.edu	37	10	70515218	70515218	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr10:70515218C>A	ENST00000265872.6	+	13	1669	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Missense_Mutation_p.P502H|CCAR1_ENST00000535016.1_Missense_Mutation_p.P502H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	517					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.P517H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GAAAAAGATCCCTCTGTGTTG	0.428																																																1	Substitution - Missense(1)	ovary(1)	10											218.0	212.0	214.0					10																	70515218		2203	4300	6503	70185224	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1550C>A	10.37:g.70515218C>A	ENSP00000265872:p.Pro517His	Unknown		x	x	x	70185224	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659629	0.47572	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.73590	0.3606	M	0.84683	2.71	0.58432	D	0.999999	D;D;D	0.76494	0.995;0.999;0.999	P;D;D	0.70487	0.874;0.969;0.926	T	0.77178	-0.2683	10	0.87932	D	0	-6.953	19.8722	0.96854	0.0:1.0:0.0:0.0	.	502;517;491	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	517;502;502;502;491;322	ENSP00000265872:P517H;ENSP00000441820:P502H;ENSP00000445254:P502H;ENSP00000439252:P502H;ENSP00000438610:P491H;ENSP00000439642:P322H	ENSP00000265872:P517H	P	+	2	0	CCAR1	70185224	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.745000	0.85046	2.700000	0.92200	0.585000	0.79938	CCC		0.428	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		Missense_Mutation
PYGM	5837	broad.mit.edu	37	11	64520595	64520595	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr11:64520595G>A	ENST00000164139.3	-	12	1866	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.R402W	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	490					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.R490W(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCAGCGCCGAGGGGTGATG	0.577																																																1	Substitution - Missense(1)	ovary(1)	11	GRCh37	CM071071	PYGM	M							205.0	233.0	223.0					11																	64520595		2201	4297	6498	64277171	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1468C>T	11.37:g.64520595G>A	ENSP00000164139:p.Arg490Trp	Unknown		x	x	x	64277171	A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188984	0.78789	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.96232	-3.95;-3.95	5.82	4.83	0.62350	.	0.000000	0.51477	D	0.000085	D	0.98887	0.9623	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	D	0.98877	1.0768	10	0.87932	D	0	-28.313	15.2191	0.73296	0.0:0.0:0.8499:0.1501	.	402;490	A6NDY6;P11217	.;PYGM_HUMAN	W	402;490;471	ENSP00000366650:R402W;ENSP00000164139:R490W	ENSP00000164139:R490W	R	-	1	2	PYGM	64277171	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.581000	0.36558	2.756000	0.94617	0.561000	0.74099	CGG		0.577	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		Missense_Mutation
CPT1A	1374	broad.mit.edu	37	11	68552431	68552431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr11:68552431G>A	ENST00000265641.5	-	10	1169	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	CPT1A_ENST00000540367.1_Nonsense_Mutation_p.R339*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.R339*|CPT1A_ENST00000376618.2_Nonsense_Mutation_p.R339*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	339					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.R339*(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TAGCGTCCTCGATGGTACACG	0.572																																																1	Substitution - Nonsense(1)	ovary(1)	11											174.0	133.0	147.0					11																	68552431		2200	4294	6494	68309007	SO:0001587	stop_gained	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1015C>T	11.37:g.68552431G>A	ENSP00000265641:p.Arg339*	Unknown		x	x	x	68309007	Q8TCU0|Q9BWK0	Nonsense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847286	0.71603	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	.	.	.	5.06	-3.33	0.04958	.	0.590028	0.16535	N	0.210189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	10.4981	0.44789	0.0962:0.0:0.4351:0.4687	.	.	.	.	X	339	.	ENSP00000265641:R339X	R	-	1	2	CPT1A	68309007	0.765000	0.28485	0.030000	0.17652	0.600000	0.36913	0.646000	0.24797	-0.341000	0.08376	-0.311000	0.09066	CGA		0.572	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		Nonsense_Mutation
ATN1	1822	broad.mit.edu	37	12	7044854	7044854	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr12:7044854G>A	ENST00000356654.4	+	5	661	c.424G>A	c.(424-426)Gag>Aag	p.E142K	ATN1_ENST00000396684.2_Missense_Mutation_p.E142K	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	142					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.E142K(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGAAGTGTGGAGAATGACTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	12											184.0	134.0	151.0					12																	7044854		2203	4300	6503	6915115	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.424G>A	12.37:g.7044854G>A	ENSP00000349076:p.Glu142Lys	Unknown		x	x	x	6915115	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	g	24.3	4.521666	0.85600	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.69926	-0.44;-0.44;-0.44	3.77	3.77	0.43336	.	0.000000	0.32068	U	0.006635	T	0.71221	0.3314	L	0.32530	0.975	0.53005	D	0.999964	D;D	0.71674	0.998;0.995	D;D	0.74348	0.983;0.963	T	0.67102	-0.5755	10	0.20046	T	0.44	.	16.1802	0.81892	0.0:0.0:1.0:0.0	.	142;142	Q86V38;P54259	.;ATN1_HUMAN	K	142	ENSP00000349076:E142K;ENSP00000379915:E142K;ENSP00000441744:E142K	ENSP00000349076:E142K	E	+	1	0	ATN1	6915115	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.381000	0.97205	2.112000	0.64535	0.454000	0.30748	GAG		0.607	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		Missense_Mutation
KL	9365	broad.mit.edu	37	13	33635040	33635040	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr13:33635040G>C	ENST00000380099.3	+	4	1832	c.1824G>C	c.(1822-1824)caG>caC	p.Q608H	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	608	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.Q608H(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGGGTAACCAGTCCCAGGTGA	0.572																																																1	Substitution - Missense(1)	ovary(1)	13											119.0	107.0	111.0					13																	33635040		2203	4300	6503	32533040	SO:0001583	missense	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1824G>C	13.37:g.33635040G>C	ENSP00000369442:p.Gln608His	Unknown		x	x	x	32533040	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	CCDS9347.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	6.183	0.401910	0.11696	.	.	ENSG00000133116	ENST00000380099	T	0.32988	1.43	5.57	3.52	0.40303	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.438530	0.24970	N	0.034143	T	0.30262	0.0759	M	0.66939	2.045	0.26329	N	0.977547	B	0.06786	0.001	B	0.10450	0.005	T	0.19484	-1.0304	10	0.42905	T	0.14	-10.8744	9.0343	0.36277	0.155:0.0:0.7125:0.1325	.	608	Q9UEF7	KLOT_HUMAN	H	608	ENSP00000369442:Q608H	ENSP00000369442:Q608H	Q	+	3	2	KL	32533040	1.000000	0.71417	0.984000	0.44739	0.158000	0.22134	1.467000	0.35321	1.370000	0.46153	0.655000	0.94253	CAG		0.572	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			Missense_Mutation
UGGT2	55757	broad.mit.edu	37	13	96536926	96536926	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr13:96536926C>T	ENST00000376747.3	-	27	3117	c.3047G>A	c.(3046-3048)cGt>cAt	p.R1016H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1016					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.R1016H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CAGAACAAAACGGTAAAAGCT	0.328																																																1	Substitution - Missense(1)	ovary(1)	13											60.0	57.0	58.0					13																	96536926		2203	4300	6503	95334927	SO:0001583	missense	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3047G>A	13.37:g.96536926C>T	ENSP00000365938:p.Arg1016His	Unknown		x	x	x	95334927	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715069	0.89112	.	.	ENSG00000102595	ENST00000376747	T	0.44083	0.93	5.97	5.97	0.96955	.	0.055638	0.85682	D	0.000000	T	0.76506	0.3997	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.82099	-0.0625	10	0.87932	D	0	-13.6687	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1016;1016	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	H	1016	ENSP00000365938:R1016H	ENSP00000365938:R1016H	R	-	2	0	UGGT2	95334927	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.743000	0.68655	2.836000	0.97738	0.655000	0.94253	CGT		0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		Missense_Mutation
PIGH	5283	broad.mit.edu	37	14	68060621	68060621	+	Missense_Mutation	SNP	G	G	A	rs370375274		TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr14:68060621G>A	ENST00000216452.4	-	2	312	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	PIGH_ENST00000559581.1_Intron|PIGH_ENST00000560722.1_Missense_Mutation_p.L77F	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	77					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.L77F(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		AGATAACCAAGCAGACCTAAG	0.433																																																1	Substitution - Missense(1)	ovary(1)	14						G	PHE/LEU	0,4406		0,0,2203	62.0	56.0	58.0		229	6.1	1.0	14		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIGH	NM_004569.3	22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	77/189	68060621	1,13005	2203	4300	6503	67130374	SO:0001583	missense	5283				CCDS9784.1	14q24.1	2013-02-26	2006-06-28		ENSG00000100564	ENSG00000100564	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8964	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase subunit"""	600154	"""phosphatidylinositol glycan, class H"""			8204896	Standard	NM_004569		Approved	GPI-H	uc001xjr.1	Q14442	OTTHUMG00000171806	ENST00000216452.4:c.229C>T	14.37:g.68060621G>A	ENSP00000216452:p.Leu77Phe	Unknown		x	x	x	67130374	B2RAA4	Missense_Mutation	SNP	ENST00000216452.4	37	CCDS9784.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745490	0.69418	0.0	1.16E-4	ENSG00000100564	ENST00000216452	.	.	.	6.08	6.08	0.98989	.	0.314687	0.34777	N	0.003698	T	0.39989	0.1099	N	0.19112	0.55	0.80722	D	1	P;P	0.40476	0.718;0.718	B;B	0.36885	0.235;0.168	T	0.39901	-0.9591	9	0.59425	D	0.04	.	16.2633	0.82562	0.0:0.0:0.8596:0.1404	.	77;77	B4DEE2;Q14442	.;PIGH_HUMAN	F	77	.	ENSP00000216452:L77F	L	-	1	0	PIGH	67130374	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.840000	0.48215	2.894000	0.99253	0.655000	0.94253	CTT		0.433	PIGH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415189.2	NM_004569		Missense_Mutation
ZFYVE26	23503	broad.mit.edu	37	14	68274475	68274475	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr14:68274475G>C	ENST00000347230.4	-	5	664	c.526C>G	c.(526-528)Ctt>Gtt	p.L176V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L176V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	176					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L176I(1)|p.L176V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCCTCCTCAAGCAGGAGCTCC	0.607																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	14											110.0	113.0	112.0					14																	68274475		2203	4300	6503	67344228	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.526C>G	14.37:g.68274475G>C	ENSP00000251119:p.Leu176Val	Unknown		x	x	x	67344228	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527638	0.27299	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27256	1.83;1.68	5.83	4.01	0.46588	.	0.373630	0.28332	N	0.015731	T	0.25344	0.0616	M	0.62723	1.935	0.34006	D	0.650885	P;P;B	0.42692	0.634;0.787;0.22	B;B;B	0.36666	0.124;0.23;0.024	T	0.39761	-0.9598	10	0.35671	T	0.21	-3.6563	12.9282	0.58272	0.112:0.0:0.888:0.0	.	176;176;176	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	V	176	ENSP00000251119:L176V;ENSP00000450603:L176V	ENSP00000251119:L176V	L	-	1	0	ZFYVE26	67344228	1.000000	0.71417	0.959000	0.39883	0.678000	0.39670	4.999000	0.63934	0.813000	0.34350	0.591000	0.81541	CTT		0.607	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		Missense_Mutation
EIF2B2	8892	broad.mit.edu	37	14	75475852	75475852	+	Silent	SNP	G	G	A			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr14:75475852G>A	ENST00000266126.5	+	8	1097	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	339					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.L339L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TCTACCGCCTGATGAGTGAAC	0.478																																																1	Substitution - coding silent(1)	ovary(1)	14											346.0	283.0	304.0					14																	75475852		2203	4300	6503	74545605	SO:0001819	synonymous_variant	8892				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.1017G>A	14.37:g.75475852G>A		Unknown		x	x	x	74545605	O43201	Silent	SNP	ENST00000266126.5	37	CCDS9836.1	SNP	45	Broad																																																																																				0.478	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		Silent
SCNN1G	6340	broad.mit.edu	37	16	23208729	23208729	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr16:23208729C>A	ENST00000300061.2	+	6	1201	c.1058C>A	c.(1057-1059)aCc>aAc	p.T353N	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	353					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.T353N(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCAATGGTCACCTCTATAGGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	16											118.0	110.0	112.0					16																	23208729		2197	4300	6497	23116230	SO:0001583	missense	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1058C>A	16.37:g.23208729C>A	ENSP00000300061:p.Thr353Asn	Unknown		x	x	x	23116230	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	CCDS10608.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186978	0.78789	.	.	ENSG00000166828	ENST00000300061	T	0.69175	-0.38	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.84844	0.5562	M	0.87827	2.91	0.44048	D	0.996781	D	0.89917	1.0	D	0.91635	0.999	D	0.86999	0.2115	10	0.87932	D	0	-7.1759	18.6399	0.91392	0.0:1.0:0.0:0.0	.	353	P51170	SCNNG_HUMAN	N	353	ENSP00000300061:T353N	ENSP00000300061:T353N	T	+	2	0	SCNN1G	23116230	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.359000	0.66074	2.662000	0.90505	0.655000	0.94253	ACC		0.458	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		Missense_Mutation
MAZ	4150	broad.mit.edu	37	16	29820861	29820861	+	Intron	SNP	G	G	C			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr16:29820861G>C	ENST00000322945.6	+	5	1444				MAZ_ENST00000219782.6_Splice_Site_p.G427A|MAZ_ENST00000545521.1_Intron|MAZ_ENST00000568544.1_Intron|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000568282.1_Splice_Site_p.G28A|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Intron|PRRT2_ENST00000300797.6_5'Flank|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000566906.2_Intron|AC009133.14_ENST00000563806.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|AC009133.20_ENST00000569039.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G427A(1)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CCCCCAATAGGCTTCACCACG	0.687																																					Colon(72;875 1167 15364 30899 37091)											1	Substitution - Missense(1)	ovary(1)	16											21.0	22.0	22.0					16																	29820861		1973	4119	6092	29728362	SO:0001627	intron_variant	4150			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1280-537G>C	16.37:g.29820861G>C		Unknown		x	x	x	29728362	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	CCDS42143.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658745	0.47467	.	.	ENSG00000103495	ENST00000219782	T	0.01474	4.85	3.82	2.84	0.33178	.	0.330947	0.26742	U	0.022736	T	0.01287	0.0042	N	0.12443	0.215	0.38461	D	0.947216	B	0.17038	0.02	B	0.19666	0.026	T	0.56854	-0.7910	9	.	.	.	.	11.2822	0.49201	0.0:0.187:0.813:0.0	.	427	G5E927	.	A	427	ENSP00000219782:G427A	.	G	+	2	0	MAZ	29728362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.642000	0.74329	0.963000	0.38082	0.561000	0.74099	GGC		0.687	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	A	rs11575997		TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr17:7576852C>A	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(24)|p.0?(8)|p.I332fs*49(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)	AGACTTAGTACCTGAAGGGTG	0.458		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	ovary(8)|lung(4)|breast(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|NS(2)|pancreas(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	17	GRCh37	CD002536	TP53	D	rs11575997						115.0	108.0	111.0					17																	7576852		2203	4300	6503	7517577	SO:0001630	splice_region_variant	7157	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;	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.993+1G>T	17.37:g.7576852C>A		Unknown		x	x	x	7517577	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	Splice_Site_SNP	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301218	0.40694	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	rs11575997	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.		0.458	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	Splice_Site_SNP
RDM1	201299	broad.mit.edu	37	17	34251748	34251748	+	Missense_Mutation	SNP	C	C	A			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr17:34251748C>A	ENST00000293273.6	-	4	473	c.428G>T	c.(427-429)aGg>aTg	p.R143M	RDM1_ENST00000430160.2_Missense_Mutation_p.R120M|RDM1_ENST00000394527.1_Intron|RDM1_ENST00000431884.2_Missense_Mutation_p.R143M|RDM1_ENST00000419453.2_Missense_Mutation_p.R120M|RDM1_ENST00000394529.3_Missense_Mutation_p.R120M|RDM1_ENST00000394528.3_Missense_Mutation_p.R143M|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000425909.3_Intron	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	143					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R143M(1)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTCATTTTCCCTTTCTTCAAG	0.428								Other identified genes with known or suspected DNA repair function																																								1	Substitution - Missense(1)	ovary(1)	17											80.0	75.0	77.0					17																	34251748		2203	4300	6503	31275861	SO:0001583	missense	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.428G>T	17.37:g.34251748C>A	ENSP00000293273:p.Arg143Met	Unknown		x	x	x	31275861	A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	ENST00000293273.6	37	CCDS11301.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	8.654	0.898998	0.17686	.	.	ENSG00000187456	ENST00000293273;ENST00000419453;ENST00000394529;ENST00000431884;ENST00000430160;ENST00000394528	T;T;T;T;T	0.30448	1.53;1.53;1.54;1.53;1.53	3.29	0.0447	0.14227	.	0.987576	0.08255	N	0.974026	T	0.37348	0.1000	L	0.51422	1.61	0.09310	N	0.999994	D;D;D;D;D;D	0.56287	0.975;0.969;0.969;0.975;0.975;0.969	P;P;P;P;P;P	0.56216	0.766;0.563;0.794;0.69;0.69;0.794	T	0.24368	-1.0162	10	0.52906	T	0.07	-0.7718	4.0189	0.09657	0.0:0.3683:0.3907:0.241	.	120;143;120;143;143;120	B4DZ74;Q8NG50-5;Q8NG50-2;A8MY68;Q8NG50;Q8NG50-6	.;.;.;.;RDM1_HUMAN;.	M	143;22;120;143;120;143	ENSP00000293273:R143M;ENSP00000378037:R120M;ENSP00000391290:R143M;ENSP00000413421:R120M;ENSP00000378036:R143M	ENSP00000293273:R143M	R	-	2	0	RDM1	31275861	0.060000	0.20803	0.591000	0.28745	0.160000	0.22226	0.346000	0.19997	0.207000	0.20607	0.585000	0.79938	AGG		0.428	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		Missense_Mutation
LMNB2	84823	broad.mit.edu	37	19	2432480	2432480	+	Silent	SNP	C	C	T			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr19:2432480C>T	ENST00000582871.1	-	9	1550	c.1464G>A	c.(1462-1464)ttG>ttA	p.L488L	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Silent_p.L508L	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	488	LTD.|Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)	p.L488L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CCTCCCCCTCCAAGACCTGCC	0.632																																																1	Substitution - coding silent(1)	ovary(1)	19											288.0	213.0	239.0					19																	2432480		2203	4300	6503	2383480	SO:0001819	synonymous_variant	84823			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1464G>A	19.37:g.2432480C>T		Unknown		x	x	x	2383480	O75292|Q14734|Q96DF6	Silent	SNP	ENST00000582871.1	37		SNP	21	Broad																																																																																				0.632	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		Silent
CALR	811	broad.mit.edu	37	19	13051239	13051239	+	Silent	SNP	C	C	T	rs139658454		TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr19:13051239C>T	ENST00000316448.5	+	5	748	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	225	4 X approximate repeats.|P-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.I225I(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GGGCCAAGATCGATGATCCCA	0.547																																																1	Substitution - coding silent(1)	ovary(1)	19						C		1,4405	2.1+/-5.4	0,1,2202	54.0	59.0	57.0		675	-8.2	0.6	19	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous	CALR	NM_004343.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		225/418	13051239	1,13005	2203	4300	6503	12912239	SO:0001819	synonymous_variant	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.675C>T	19.37:g.13051239C>T		Unknown		x	x	x	12912239	Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	CCDS12288.1	SNP	31	Broad																																																																																				0.547	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		Silent
LILRA6	79168	broad.mit.edu	37	19	54744358	54744358	+	Nonsense_Mutation	SNP	A	A	C	rs1052992	byFrequency	TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr19:54744358A>C	ENST00000396365.2	-	6	1089	c.1050T>G	c.(1048-1050)taT>taG	p.Y350*	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Nonsense_Mutation_p.Y350*|LILRA6_ENST00000245621.5_Nonsense_Mutation_p.Y350*|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	350	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.Y350*(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAGTGTCAAAATAACCCCGTG	0.557													.|||	381	0.0760783	0.0749	0.0303	5008	,	,		17493	0.2163		0.0239	False		,,,				2504	0.0194															1	Substitution - Nonsense(1)	ovary(1)	19											72.0	100.0	90.0					19																	54744358		2084	4248	6332	59436170	SO:0001587	stop_gained	79168			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1050T>G	19.37:g.54744358A>C	ENSP00000379651:p.Tyr350*	Unknown		x	x	x	59436170		Nonsense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	a	15.47	2.843898	0.51164	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	.	.	.	1.86	-2.86	0.05717	.	6.418410	0.00397	N	0.000047	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.8525	0.01175	0.3877:0.2736:0.192:0.1467	rs1052992;rs2361803;rs3193476	.	.	.	X	350	.	ENSP00000245621:Y350X	Y	-	3	2	LILRA6	59436170	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.095000	0.00152	-1.064000	0.03172	-1.043000	0.02367	TAT		0.557	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		Nonsense_Mutation
EIF2AK2	5610	broad.mit.edu	37	2	37341969	37341969	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr2:37341969C>T	ENST00000233057.4	-	14	1604	c.1282G>A	c.(1282-1284)Gta>Ata	p.V428I	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.V428I|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.V387I	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	428	Interaction with TRAF5.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> E (in dbSNP:rs56219559). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)	p.V428I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CCAATCTTTACTTGTTTTGTA	0.323																																																1	Substitution - Missense(1)	ovary(1)	2											147.0	153.0	151.0					2																	37341969		2203	4300	6503	37195473	SO:0001583	missense	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.1282G>A	2.37:g.37341969C>T	ENSP00000233057:p.Val428Ile	Unknown		x	x	x	37195473	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	CCDS1786.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	C	0.307	-0.970449	0.02232	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334	T;T;T	0.51817	0.69;0.69;0.69	5.44	1.35	0.21983	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.181797	0.37715	N	0.001961	T	0.28665	0.0710	L	0.39020	1.185	0.28052	N	0.93333	B;B	0.02656	0.0;0.0	B;B	0.09377	0.0;0.004	T	0.32613	-0.9900	10	0.02654	T	1	-25.3736	8.5173	0.33253	0.0:0.3353:0.0:0.6647	.	428;387	P19525;E9PC80	E2AK2_HUMAN;.	I	428;428;387	ENSP00000233057:V428I;ENSP00000378559:V428I;ENSP00000385014:V387I	ENSP00000233057:V428I	V	-	1	0	EIF2AK2	37195473	0.016000	0.18221	0.363000	0.25875	0.651000	0.38670	-0.115000	0.10741	0.063000	0.16370	-0.247000	0.11927	GTA		0.323	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		Missense_Mutation
VARS2	57176	broad.mit.edu	37	6	30890923	30890923	+	Missense_Mutation	SNP	G	G	A			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr6:30890923G>A	ENST00000321897.5	+	23	2860	c.2228G>A	c.(2227-2229)cGa>cAa	p.R743Q	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.R603Q|VARS2_ENST00000416670.2_Missense_Mutation_p.R743Q|VARS2_ENST00000541562.1_Missense_Mutation_p.R773Q			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	743					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R743Q(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CAGAGCTGCCGACATTTCTGC	0.517																																																1	Substitution - Missense(1)	ovary(1)	6											100.0	106.0	104.0					6																	30890923		1511	2707	4218	30998902	SO:0001583	missense	57176			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2228G>A	6.37:g.30890923G>A	ENSP00000316092:p.Arg743Gln	Unknown		x	x	x	30998902	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	36	5.627306	0.96671	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	M	0.92026	3.265	0.51767	D	0.999936	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.988;0.976;0.989;0.989	T	0.64711	-0.6343	10	0.87932	D	0	-15.9095	16.6685	0.85259	0.0:0.0:1.0:0.0	.	181;741;773;743	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	Q	743;743;603;773	ENSP00000316092:R743Q;ENSP00000394802:R743Q;ENSP00000438200:R603Q;ENSP00000441000:R773Q	ENSP00000316092:R743Q	R	+	2	0	VARS2	30998902	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	6.548000	0.73896	2.618000	0.88619	0.462000	0.41574	CGA		0.517	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		Missense_Mutation
RIMS1	22999	broad.mit.edu	37	6	73043331	73043331	+	Missense_Mutation	SNP	C	C	T	rs201017334		TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr6:73043331C>T	ENST00000521978.1	+	29	4159	c.4159C>T	c.(4159-4161)Cgg>Tgg	p.R1387W	RIMS1_ENST00000538414.1_Missense_Mutation_p.R193W|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1210W|RIMS1_ENST00000348717.5_Splice_Site_p.R1170W|RIMS1_ENST00000517960.1_Splice_Site_p.R1170W|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.R707W|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.R1236W	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1387	Ser-rich.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R1387W(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCAAGGCAGACGGATGGGGAC	0.418																																																2	Substitution - Missense(2)	ovary(1)|NS(1)	6						C	TRP/ARG,,,,TRP/ARG	1,3831		0,1,1915	53.0	51.0	52.0		2119,,,,4159	5.4	1.0	6		52	3,8265		0,3,4131	yes	missense,intron,intron,intron,missense	RIMS1	NM_001168407.1,NM_001168408.1,NM_001168409.1,NM_001168410.1,NM_014989.4	101,,,,101	0,4,6046	TT,TC,CC		0.0363,0.0261,0.0331	probably-damaging,,,,probably-damaging	707/1013,,,,1387/1693	73043331	4,12096	1916	4134	6050	73100052	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4159C>T	6.37:g.73043331C>T	ENSP00000428417:p.Arg1387Trp	Unknown		x	x	x	73100052	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	SNP	19	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.911117|4.911117	0.92178|0.92178	2.61E-4|2.61E-4	3.63E-4|3.63E-4	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000517433	T;T;T;T;T;T;T;T;T|.	0.18960|.	2.44;2.53;2.52;2.53;2.52;2.6;2.42;2.18;2.18|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.64402|.	D|.	0.000019|.	T|T	0.56630|0.56630	0.1998|0.1998	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D;D;D|.	0.89917|.	0.998;1.0;0.997;0.993;1.0;0.999;1.0|.	P;D;P;P;D;P;D|.	0.78314|.	0.821;0.991;0.821;0.727;0.928;0.874;0.988|.	T|T	0.52283|0.52283	-0.8596|-0.8596	10|5	0.66056|.	D|.	0.02|.	-9.8877|-9.8877	19.5416|19.5416	0.95277|0.95277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	193;1236;707;1170;463;1210;1387|.	B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	W|M	1210;1236;1210;1170;1236;1170;1387;707;552;435;193|732	ENSP00000430101:R1210W;ENSP00000275037:R1170W;ENSP00000264839:R1236W;ENSP00000429959:R1170W;ENSP00000428417:R1387W;ENSP00000385649:R707W;ENSP00000389503:R552W;ENSP00000359448:R435W;ENSP00000439730:R193W|.	ENSP00000264839:R1236W|.	R|T	+|+	1|2	2|0	RIMS1|RIMS1	73100052|73100052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.405000|7.405000	0.80007|0.80007	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	CGG|ACG		0.418	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			Missense_Mutation
EPDR1	54749	broad.mit.edu	37	7	37960300	37960301	+	De_novo_Start_OutOfFrame	DNP	CA	CA	AT			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr7:37960300_37960301CA>AT	ENST00000199448.4	+	0	138_139				EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_De_novo_Start_OutOfFrame|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000559325.1_Missense_Mutation_p.P40H	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)	p.P40H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GGCAGTGGCCCAGGCAGAAATA	0.649																																																1	Substitution - Missense(1)	ovary(1)	7																																								37926826			54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	Exception_encountered	7.37:g.37960300_37960301delinsAT		Unknown		x	x	x	37926825	A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	DNP	ENST00000199448.4	37	CCDS5454.2	DNP	21	Broad																																																																																				0.649	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		Missense_Mutation
CSMD3	114788	broad.mit.edu	37	8	113314169	113314169	+	Missense_Mutation	SNP	G	G	T			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr8:113314169G>T	ENST00000297405.5	-	53	8537	c.8293C>A	c.(8293-8295)Cct>Act	p.P2765T	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2725T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2695T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2596T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2765	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2765T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATTTGGAGGTGTAGGTAGT	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											96.0	97.0	97.0					8																	113314169		2203	4300	6503	113383345	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8293C>A	8.37:g.113314169G>T	ENSP00000297405:p.Pro2765Thr	Unknown		x	x	x	113383345	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817345	0.70912	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.61	5.61	0.85477	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.80391	0.4614	M	0.92923	3.36	0.58432	D	0.999999	P;P;D	0.54397	0.812;0.747;0.966	P;P;P	0.54270	0.481;0.615;0.747	T	0.80086	-0.1529	10	0.25106	T	0.35	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	2596;2765;2725	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	2725;2765;2035;2596;2695	ENSP00000345799:P2725T;ENSP00000297405:P2765T;ENSP00000341558:P2035T;ENSP00000412263:P2596T;ENSP00000343124:P2695T	ENSP00000297405:P2765T	P	-	1	0	CSMD3	113383345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.609000	0.67661	2.804000	0.96469	0.650000	0.86243	CCT		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		Missense_Mutation
TSNARE1	203062	broad.mit.edu	37	8	143425334	143425334	+	Silent	SNP	C	C	T			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr8:143425334C>T	ENST00000307180.3	-	4	855	c.738G>A	c.(736-738)ccG>ccA	p.P246P	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000524325.1_Silent_p.P246P|TSNARE1_ENST00000520166.1_Silent_p.P246P	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	246					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.P246P(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CACCTCTGGGCGGCTCCAGAC	0.662																																																1	Substitution - coding silent(1)	ovary(1)	8											18.0	16.0	17.0					8																	143425334		2117	4179	6296	143423241	SO:0001819	synonymous_variant	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.738G>A	8.37:g.143425334C>T		Unknown		x	x	x	143423241	B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	CCDS6384.1	SNP	27	Broad																																																																																				0.662	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		Silent
CYP11B1	1584	broad.mit.edu	37	8	143956507	143956507	+	Missense_Mutation	SNP	G	G	C			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr8:143956507G>C	ENST00000292427.4	-	8	1296	c.1264C>G	c.(1264-1266)Cgc>Ggc	p.R422G	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R493G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	422					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R422G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GGGTTATAGCGCTCAGGCCTC	0.637									Familial Hyperaldosteronism type I																																							1	Substitution - Missense(1)	ovary(1)	8											84.0	87.0	86.0					8																	143956507		2203	4300	6503	143953509	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1264C>G	8.37:g.143956507G>C	ENSP00000292427:p.Arg422Gly	Unknown		x	x	x	143953509	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	.	13.72	2.322195	0.41096	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.70045	1.45;-0.45;-0.45	4.22	2.31	0.28768	.	0.393267	0.22009	N	0.065883	T	0.75939	0.3918	M	0.83223	2.63	0.39728	D	0.971561	D;D;P	0.54397	0.962;0.966;0.867	P;P;P	0.58266	0.824;0.836;0.588	T	0.75814	-0.3185	10	0.48119	T	0.1	.	7.3258	0.26555	0.1:0.0:0.7288:0.1712	.	493;422;422	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	G	100;422;493	ENSP00000430144:R100G;ENSP00000292427:R422G;ENSP00000366903:R493G	ENSP00000292427:R422G	R	-	1	0	CYP11B1	143953509	0.993000	0.37304	0.997000	0.53966	0.299000	0.27559	1.995000	0.40767	0.863000	0.35553	0.561000	0.74099	CGC		0.637	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			Missense_Mutation
KDM4C	23081	broad.mit.edu	37	9	7169927	7169927	+	Intron	SNP	G	G	C			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr9:7169927G>C	ENST00000381309.3	+	21	3559				KDM4C_ENST00000381306.3_Missense_Mutation_p.V1011L|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C						histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GACCTGCCAAGTGAATTCCTT	0.433																																																0			9											49.0	43.0	45.0					9																	7169927		2203	4300	6503	7159927	SO:0001627	intron_variant	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2994+37G>C	9.37:g.7169927G>C		Unknown		x	x	x	7159927	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289152	0.23478	.	.	ENSG00000107077	ENST00000381306	T	0.15372	2.43	4.58	0.307	0.15811	.	.	.	.	.	T	0.08447	0.0210	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39165	-0.9627	7	.	.	.	.	4.9386	0.13954	0.2659:0.0:0.5855:0.1486	.	1011	Q9H3R0-2	.	L	1011	ENSP00000370707:V1011L	.	V	+	1	0	KDM4C	7159927	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	-0.077000	0.11394	0.255000	0.21593	0.467000	0.42956	GTG		0.433	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		Missense_Mutation
ARHGEF9	23229	broad.mit.edu	37	X	62898374	62898374	+	Missense_Mutation	SNP	C	C	T			TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chrX:62898374C>T	ENST00000253401.6	-	5	1440	c.640G>A	c.(640-642)Gac>Aac	p.D214N	ARHGEF9_ENST00000433323.2_5'Flank|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.D161N|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D212N|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.D112N|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.D193N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	214	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D212N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TAGCGGCTGTCCTTCATCAGT	0.463																																																1	Substitution - Missense(1)	ovary(1)	X											72.0	54.0	60.0					X																	62898374		2203	4300	6503	62815099	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.640G>A	X.37:g.62898374C>T	ENSP00000253401:p.Asp214Asn	Unknown		x	x	x	62815099	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	CCDS35315.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336356	0.41398	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.053091	0.64402	D	0.000001	T	0.43634	0.1256	N	0.11927	0.2	0.80722	D	1	B;B;B;B	0.16396	0.017;0.017;0.017;0.007	B;B;B;B	0.17433	0.018;0.01;0.018;0.018	T	0.34601	-0.9822	10	0.12766	T	0.61	.	16.0426	0.80695	0.0:1.0:0.0:0.0	.	161;212;214;214	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	N	214;212;161;112;193	ENSP00000253401:D214N;ENSP00000364012:D212N;ENSP00000399994:D161N;ENSP00000364004:D112N;ENSP00000364006:D193N	ENSP00000253401:D214N	D	-	1	0	ARHGEF9	62815099	1.000000	0.71417	0.961000	0.40146	0.839000	0.47603	5.502000	0.66956	2.087000	0.62958	0.600000	0.82982	GAC		0.463	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			Missense_Mutation
MED15	51586	broad.mit.edu	37	22	20920813	20920814	+	In_Frame_Ins	INS	-	-	CAG	rs67182670|rs361923|rs535773989|rs539945336	byFrequency	TCGA-59-2355-01	TCGA-59-2355-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-59-2355-01	TCGA-59-2355-10	g.chr22:20920813_20920814insCAG	ENST00000263205.7	+	7	819_820	c.750_751insCAG	c.(751-753)cag>CAGcag	p.251_251Q>QQ	MED15_ENST00000542773.1_In_Frame_Ins_p.56_56Q>QQ|MED15_ENST00000382974.2_In_Frame_Ins_p.180_180Q>QQ|MED15_ENST00000425759.2_In_Frame_Ins_p.140_140Q>QQ|MED15_ENST00000292733.7_In_Frame_Ins_p.251_251Q>QQ|MED15_ENST00000541476.1_In_Frame_Ins_p.225_225Q>QQ|MED15_ENST00000406969.1_In_Frame_Ins_p.225_225Q>QQ|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	251	Poly-Gln.			Missing (in Ref. 3; BAB85034). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			aacaacagcaacagcagcagca	0.589																																																4	Insertion - In frame(4)	ovary(2)|large_intestine(2)	22																																								19250814	SO:0001652	inframe_insertion	51586			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.784_786dupCAG	22.37:g.20920820_20920822dupCAG	ENSP00000263205:p.Gln262dup	Unknown		Capture	Illumina GAIIx	Phase_I	19250813	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Ins	INS	ENST00000263205.7	37	CCDS33602.1	INS	2	Broad																																																																																				0.589	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		In_Frame_Ins
