#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
IK	3550	broad.mit.edu	37	5	140038918	140038918	+	Splice_Site	SNP	G	G	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:140038918G>T	ENST00000417647.2	+	13	1334	c.1195G>T	c.(1195-1197)Gga>Tga	p.G399*		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	399					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGACAAAGGTGAGTTGTA	0.498																																						ENST00000417647.2																			0				large_intestine(1)	1						c.e13+1		IK cytokine, down-regulator of HLA II							123.0	113.0	116.0					5																	140038918		1996	4176	6172	SO:0001630	splice_region_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140038918G>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1195+1G>T	5.37:g.140038918G>T							p.G399_splice	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1334	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	399					Q6IPD8	Splice_Site	SNP	ENST00000417647.2	37	c.1195_splice	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	37	6.494184	0.97612	.	.	ENSG00000113141	ENST00000417647	.	.	.	5.35	5.35	0.76521	.	0.055106	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	17.9993	0.89194	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000396301:G399X	G	+	1	0	IK	140019102	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.538000	0.67193	2.663000	0.90544	0.655000	0.94253	GGA		0.498	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083	Nonsense_Mutation	4	78	1	0	0.014758	0.014758	0.0202239	4	78				
TMPRSS11B	132724	broad.mit.edu	37	4	69107516	69107516	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr4:69107516G>A	ENST00000332644.5	-	2	176	c.15C>T	c.(13-15)ggC>ggT	p.G5G		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	5						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGGAAGATATGCCGTGCCTAT	0.378																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(13-15)ggC>ggT		transmembrane protease, serine 11B							71.0	69.0	70.0					4																	69107516		2203	4300	6503	SO:0001819	synonymous_variant	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69107516G>A	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.15C>T	4.37:g.69107516G>A							p.G5G	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			2	176	-			5					A8K4D9	Silent	SNP	ENST00000332644.5	37	c.15C>T	CCDS3521.1																																																																																				0.378	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		15	36	0	0	0	0.033300	0	15	36				
MAGEB3	4114	broad.mit.edu	37	X	30254993	30254993	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chrX:30254993G>A	ENST00000361644.2	+	5	1689	c.952G>A	c.(952-954)Gtc>Atc	p.V318I		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	318										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GGAAGAAAGAGTCCAAGCTGC	0.502																																						ENST00000361644.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						c.(952-954)Gtc>Atc		melanoma antigen family B, 3							85.0	71.0	76.0					X																	30254993		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254993G>A	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.952G>A	X.37:g.30254993G>A	ENSP00000355198:p.Val318Ile					MAGEB3_ENST00000378986.1_Missense_Mutation_p.V318I	p.V318I	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN			5	1689	+			318					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.952G>A	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320572	0.23994	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.01665	4.7;4.7	4.01	1.47	0.22746	.	1.209690	0.06625	U	0.758179	T	0.02455	0.0075	L	0.47190	1.495	0.09310	N	1	B	0.15930	0.015	B	0.15870	0.014	T	0.46331	-0.9199	10	0.87932	D	0	.	5.3521	0.16042	0.3695:0.0:0.6305:0.0	.	318	O15480	MAGB3_HUMAN	I	318	ENSP00000368271:V318I;ENSP00000355198:V318I	ENSP00000355198:V318I	V	+	1	0	MAGEB3	30164914	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.569000	0.05902	0.172000	0.19760	-0.192000	0.12808	GTC		0.502	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		3	40	0	0	0	0.009096	0	3	40				
MYOM3	127294	broad.mit.edu	37	1	24424482	24424482	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:24424482C>T	ENST00000374434.3	-	7	838	c.676G>A	c.(676-678)Gca>Aca	p.A226T	MYOM3_ENST00000329601.7_Missense_Mutation_p.A226T|MYOM3_ENST00000330966.7_Missense_Mutation_p.A227T|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	226	Ig-like C2-type 1.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTGTAAGTTGCTGAGTCCTCA	0.582																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(679-681)Gca>Aca		myomesin 3							131.0	141.0	138.0					1																	24424482		2045	4192	6237	SO:0001583	missense	127294							g.chr1:24424482C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.676G>A	1.37:g.24424482C>T	ENSP00000363557:p.Ala226Thr					MYOM3_ENST00000329601.7_Missense_Mutation_p.A226T|MYOM3_ENST00000374434.3_Missense_Mutation_p.A226T|MYOM3_ENST00000475306.1_5'UTR	p.A227T			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	7	841	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	226			Ig-like C2-type 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.679G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677775	0.68042	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.67523	-0.27;-0.27;-0.27	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324245	0.32190	N	0.006442	T	0.80969	0.4726	M	0.87827	2.91	0.33713	D	0.615984	P;D	0.56746	0.618;0.977	P;P	0.55824	0.698;0.785	D	0.88786	0.3274	10	0.87932	D	0	.	16.0063	0.80363	0.0:1.0:0.0:0.0	.	226;226	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	T	226;227;226	ENSP00000363557:A226T;ENSP00000332670:A227T;ENSP00000328415:A226T	ENSP00000328415:A226T	A	-	1	0	MYOM3	24297069	0.620000	0.27068	0.995000	0.50966	0.335000	0.28730	4.265000	0.58865	2.518000	0.84900	0.555000	0.69702	GCA		0.582	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		4	205	0	0	0	0.009096	0	4	205				
PTDSS2	81490	broad.mit.edu	37	11	490485	490485	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:490485G>A	ENST00000308020.5	+	12	1543	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	456					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GACCAGGGCAGCACCGTCGGC	0.657																																						ENST00000308020.5																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(1366-1368)aGc>aAc		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						68.0	55.0	60.0					11																	490485		2202	4300	6502	SO:0001583	missense	81490					integral to membrane		g.chr11:490485G>A	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1367G>A	11.37:g.490485G>A	ENSP00000308258:p.Ser456Asn						p.S456N	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	12	1543	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	456						Missense_Mutation	SNP	ENST00000308020.5	37	c.1367G>A	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	9.468	1.094975	0.20471	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.46	-0.923	0.10465	.	2.248750	0.01712	N	0.027775	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09443	-1.0674	9	0.17369	T	0.5	-0.5352	2.8286	0.05492	0.3616:0.0:0.4358:0.2026	.	456	Q9BVG9	PTSS2_HUMAN	N	456	.	ENSP00000308258:S456N	S	+	2	0	PTDSS2	480485	0.001000	0.12720	0.011000	0.14972	0.030000	0.12068	0.076000	0.14712	-0.037000	0.13646	0.561000	0.74099	AGC		0.657	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			3	52	0	0	0	0.009096	0	3	52				
PRKD1	5587	broad.mit.edu	37	14	30133033	30133033	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr14:30133033A>G	ENST00000331968.5	-	4	797	c.568T>C	c.(568-570)Ttt>Ctt	p.F190L	PRKD1_ENST00000415220.2_Missense_Mutation_p.F190L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	190					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGTATTTTAAATGCACATCTC	0.403																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(568-570)Ttt>Ctt		protein kinase D1							148.0	151.0	150.0					14																	30133033		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30133033A>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.568T>C	14.37:g.30133033A>G	ENSP00000333568:p.Phe190Leu					PRKD1_ENST00000415220.2_Missense_Mutation_p.F190L	p.F190L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	4	797	-	Hepatocellular(127;0.0604)		190					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.568T>C	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436809	0.83885	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	D;D;D	0.92545	-3.06;-3.06;-3.06	5.89	5.89	0.94794	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	N	0.01761	-0.735	0.80722	D	1	B	0.28552	0.215	B	0.37943	0.261	D	0.83816	0.0244	10	0.49607	T	0.09	-26.9946	16.3605	0.83263	1.0:0.0:0.0:0.0	.	190	Q15139	KPCD1_HUMAN	L	190;190;113	ENSP00000333568:F190L;ENSP00000390535:F190L;ENSP00000446866:F113L	ENSP00000333568:F190L	F	-	1	0	PRKD1	29202784	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.336000	0.96533	2.260000	0.74910	0.529000	0.55759	TTT		0.403	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		12	228	0	0	0	0.119110	0	12	228				
MYO1C	4641	broad.mit.edu	37	17	1381773	1381773	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr17:1381773G>A	ENST00000575158.1	-	11	1297	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	MYO1C_ENST00000361007.2_Missense_Mutation_p.P374L|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000545534.2_Missense_Mutation_p.P385L|MYO1C_ENST00000359786.5_Missense_Mutation_p.P409L|MYO1C_ENST00000438665.2_Missense_Mutation_p.P390L			Q12965	MYO1E_HUMAN	myosin IC	382	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGCCAGCTGGGGCTCTCCAC	0.652																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1225-1227)cCc>cTc		myosin IC							57.0	65.0	62.0					17																	1381773		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1381773G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1121C>T	17.37:g.1381773G>A	ENSP00000459174:p.Pro374Leu					MYO1C_ENST00000545534.2_Missense_Mutation_p.P385L|MYO1C_ENST00000438665.2_Missense_Mutation_p.P390L|MYO1C_ENST00000361007.2_Missense_Mutation_p.P374L|MYO1C_ENST00000575158.1_Missense_Mutation_p.P374L	p.P409L	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1550	-			409			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.1226C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283257	0.40394	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.88431	-2.38;-2.37;-2.37;-2.37	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.547722	0.21668	N	0.070918	D	0.84556	0.5498	L	0.53249	1.67	0.50813	D	0.999898	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.77075	-0.2722	10	0.11485	T	0.65	.	12.2297	0.54480	0.0773:0.0:0.9227:0.0	.	385;409;390	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	L	409;390;390;374;385;374	ENSP00000352834:P409L;ENSP00000412197:P390L;ENSP00000354283:P374L;ENSP00000437685:P385L	ENSP00000352834:P409L	P	-	2	0	MYO1C	1328523	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.313000	0.59160	2.709000	0.92574	0.563000	0.77884	CCC		0.652	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			5	84	0	0	0	0.014758	0	5	84				
MDN1	23195	broad.mit.edu	37	6	90371839	90371839	+	Silent	SNP	T	T	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:90371839T>C	ENST00000369393.3	-	87	14647	c.14532A>G	c.(14530-14532)caA>caG	p.Q4844Q	MDN1_ENST00000428876.1_Silent_p.Q4844Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4844					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTCTTCACCTTGTCCACCAT	0.388																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(14530-14532)caA>caG		MDN1, midasin homolog (yeast)							424.0	370.0	388.0					6																	90371839		2203	4299	6502	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90371839T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14532A>G	6.37:g.90371839T>C						MDN1_ENST00000428876.1_Silent_p.Q4844Q	p.Q4844Q			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	87	14647	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4844					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.14532A>G	CCDS5024.1																																																																																				0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	172	0	0	0	0.115264	0	3	172				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		3	58	0	0	0	0.115264	0	3	58				
ARMC3	219681	broad.mit.edu	37	10	23292246	23292246	+	Missense_Mutation	SNP	A	A	G	rs569312673		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr10:23292246A>G	ENST00000298032.5	+	13	1718	c.1634A>G	c.(1633-1635)aAt>aGt	p.N545S	ARMC3_ENST00000409049.3_Missense_Mutation_p.N545S|ARMC3_ENST00000376528.4_Missense_Mutation_p.N282S|ARMC3_ENST00000409983.3_Missense_Mutation_p.N545S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	545						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGCTTATAATAAGTTGCTC	0.348																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1633-1635)aAt>aGt		armadillo repeat containing 3							112.0	112.0	112.0					10																	23292246		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23292246A>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1634A>G	10.37:g.23292246A>G	ENSP00000298032:p.Asn545Ser					ARMC3_ENST00000409983.3_Missense_Mutation_p.N545S|ARMC3_ENST00000409049.3_Missense_Mutation_p.N545S|ARMC3_ENST00000376528.4_Missense_Mutation_p.N282S	p.N545S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			13	1718	+			545					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1634A>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	A	9.202	1.028836	0.19512	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.37584	1.19;1.19;1.19;2.41	5.53	4.41	0.53225	.	0.849335	0.10961	N	0.615037	T	0.31136	0.0787	L	0.50919	1.6	0.32523	N	0.535935	B;B	0.14012	0.009;0.004	B;B	0.09377	0.004;0.003	T	0.30268	-0.9984	10	0.12103	T	0.63	-16.86	10.8516	0.46773	0.926:0.0:0.0739:0.0	.	545;545	Q5W041-4;Q5W041	.;ARMC3_HUMAN	S	545;545;481;545;282	ENSP00000298032:N545S;ENSP00000386943:N545S;ENSP00000387288:N545S;ENSP00000365711:N282S	ENSP00000298032:N545S	N	+	2	0	ARMC3	23332252	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	2.293000	0.43558	2.093000	0.63338	0.460000	0.39030	AAT		0.348	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		17	101	0	0	0	0.038395	0	17	101				
MRGPRX1	259249	broad.mit.edu	37	11	18956155	18956155	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:18956155G>A	ENST00000302797.3	-	1	401	c.177C>T	c.(175-177)aaC>aaT	p.N59N	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	59					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGAGAAGGCGTTCCTGCGCA	0.562																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(175-177)aaC>aaT		MAS-related GPR, member X1							145.0	140.0	141.0					11																	18956155		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956155G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.177C>T	11.37:g.18956155G>A						MRGPRX1_ENST00000526914.1_5'UTR	p.N59N	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	401	-			59					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.177C>T	CCDS7846.1																																																																																				0.562	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		6	202	0	0	0	0.021553	0	6	202				
KMT2A	4297	broad.mit.edu	37	11	118361935	118361935	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:118361935A>G	ENST00000389506.5	+	14	4721	c.4721A>G	c.(4720-4722)aAa>aGa	p.K1574R	KMT2A_ENST00000534358.1_Missense_Mutation_p.K1574R|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1536R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1574					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTCTGTGACAAATGTTATGAT	0.433																																						ENST00000534358.1																			0											c.(4720-4722)aAa>aGa		lysine (K)-specific methyltransferase 2A							184.0	170.0	174.0					11																	118361935		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118361935A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4721A>G	11.37:g.118361935A>G	ENSP00000374157:p.Lys1574Arg					KMT2A_ENST00000389506.5_Missense_Mutation_p.K1574R|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1536R	p.K1574R	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					14	4744	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4721A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673836	0.67928	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.87491	-1.91;-1.91;-1.91;-2.26	5.52	5.52	0.82312	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87822	0.6274	N	0.17838	0.53	0.58432	D	0.999996	D;D	0.76494	0.999;0.957	D;P	0.80764	0.994;0.857	D	0.86191	0.1612	10	0.23891	T	0.37	.	15.6631	0.77203	1.0:0.0:0.0:0.0	.	1574;1574	E9PQG7;Q03164	.;MLL1_HUMAN	R	1574;1574;1536;484;286	ENSP00000436786:K1574R;ENSP00000374157:K1574R;ENSP00000346516:K1536R;ENSP00000376612:K286R	ENSP00000346516:K1536R	K	+	2	0	MLL	117867145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.572000	0.82409	2.088000	0.63022	0.533000	0.62120	AAA		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		3	159	0	0	0	0.014758	0	3	159				
PAK3	5063	broad.mit.edu	37	X	110406220	110406220	+	Missense_Mutation	SNP	A	A	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chrX:110406220A>T	ENST00000372010.1	+	10	1033	c.591A>T	c.(589-591)gaA>gaT	p.E197D	PAK3_ENST00000446737.1_Missense_Mutation_p.E182D|PAK3_ENST00000360648.4_Missense_Mutation_p.E218D|PAK3_ENST00000417227.1_Missense_Mutation_p.E203D|PAK3_ENST00000372007.5_Missense_Mutation_p.E182D|PAK3_ENST00000519681.1_Missense_Mutation_p.E203D|PAK3_ENST00000262836.4_Missense_Mutation_p.E197D|PAK3_ENST00000518291.1_Missense_Mutation_p.E218D|PAK3_ENST00000425146.1_Missense_Mutation_p.E182D			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E182D(1)|p.E218D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						aagaagaagaagatgaaAATG	0.403										TSP Lung(19;0.15)																												ENST00000519681.1																			2	Substitution - Missense(2)	p.E182D(1)|p.E218D(1)	endometrium(2)	breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(607-609)gaA>gaT		p21 protein (Cdc42/Rac)-activated kinase 3							156.0	136.0	143.0					X																	110406220		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406220A>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.591A>T	X.37:g.110406220A>T	ENSP00000361080:p.Glu197Asp	TSP Lung(19;0.15)				PAK3_ENST00000372010.1_Missense_Mutation_p.E197D|PAK3_ENST00000360648.4_Missense_Mutation_p.E218D|PAK3_ENST00000518291.1_Missense_Mutation_p.E218D|PAK3_ENST00000262836.4_Missense_Mutation_p.E197D|PAK3_ENST00000446737.1_Missense_Mutation_p.E182D|PAK3_ENST00000425146.1_Missense_Mutation_p.E182D|PAK3_ENST00000417227.1_Missense_Mutation_p.E203D|PAK3_ENST00000372007.4_Missense_Mutation_p.E182D	p.E203D			O75914	PAK3_HUMAN			10	1051	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.609A>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807573	0.31961	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.73047	-0.69;-0.69;-0.71;-0.71;-0.69;-0.7;-0.7;-0.71;-0.71	5.95	3.63	0.41609	.	0.063753	0.64402	D	0.000011	T	0.40272	0.1110	N	0.05441	-0.05	0.36081	D	0.842782	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.40590	-0.9555	10	0.06365	T	0.9	.	4.7506	0.13059	0.7052:0.0:0.1397:0.155	.	203;218;197;182	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	D	182;182;197;203;182;218;218;203;197	ENSP00000410853:E182D;ENSP00000401982:E182D;ENSP00000361080:E197D;ENSP00000429113:E203D;ENSP00000361077:E182D;ENSP00000428921:E218D;ENSP00000353864:E218D;ENSP00000389172:E203D;ENSP00000262836:E197D	ENSP00000262836:E197D	E	+	3	2	PAK3	110292876	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.057000	0.30492	1.999000	0.58509	0.486000	0.48141	GAA		0.403	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		4	117	0	0	0	0.009096	0	4	117				
TBC1D22B	55633	broad.mit.edu	37	6	37254821	37254821	+	Silent	SNP	G	G	A	rs74511891		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:37254821G>A	ENST00000373491.3	+	7	986	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	280	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CTCTCATTCCGTTGTTCCAGC	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		20624	0.001		0.0	False		,,,				2504	0.0					ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(838-840)ccG>ccA		TBC1 domain family, member 22B							169.0	157.0	161.0					6																	37254821		2203	4300	6503	SO:0001819	synonymous_variant	55633					intracellular	Rab GTPase activator activity	g.chr6:37254821G>A	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.840G>A	6.37:g.37254821G>A							p.P280P	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		7	986	+			280			Rab-GAP TBC.		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Silent	SNP	ENST00000373491.3	37	c.840G>A	CCDS4832.1																																																																																				0.418	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		70	96	0	0	0	0.139131	0	70	96				
NRXN2	9379	broad.mit.edu	37	11	64415766	64415766	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:64415766C>T	ENST00000377551.1	-	16	3539	c.3328G>A	c.(3328-3330)Gtc>Atc	p.V1110I	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Missense_Mutation_p.V1110I|NRXN2_ENST00000377559.3_Missense_Mutation_p.V1070I|NRXN2_ENST00000409571.1_Missense_Mutation_p.V1103I			Q9P2S2	NRX2A_HUMAN	neurexin 2	1110	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCAAGCAGACGCCCTGGTTG	0.632																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(3328-3330)Gtc>Atc		neurexin 2							107.0	93.0	98.0					11																	64415766		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64415766C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3328G>A	11.37:g.64415766C>T	ENSP00000366774:p.Val1110Ile					NRXN2_ENST00000409571.1_Missense_Mutation_p.V1103I|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.V1070I|NRXN2_ENST00000377551.1_Missense_Mutation_p.V1110I	p.V1110I	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			17	3789	-			1110			EGF-like 3.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.3328G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527781	0.64860	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.34	4.34	0.51931	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38164	U	0.001783	T	0.69387	0.3105	L	0.41236	1.265	0.45662	D	0.998587	D;P;D	0.76494	0.998;0.731;0.999	D;B;D	0.77004	0.989;0.171;0.972	T	0.65459	-0.6163	10	0.25751	T	0.34	.	14.4014	0.67050	0.0:1.0:0.0:0.0	.	1070;1110;856	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	I	1110;1070;1110;1070;1103	ENSP00000366774:V1110I;ENSP00000366782:V1070I;ENSP00000265459:V1110I;ENSP00000386416:V1103I	ENSP00000265459:V1110I	V	-	1	0	NRXN2	64172342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.617000	0.67716	2.240000	0.73641	0.655000	0.94253	GTC		0.632	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		5	110	0	0	0	0.014758	0	5	110				
PA2G4	5036	broad.mit.edu	37	12	56500441	56500441	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:56500441A>G	ENST00000303305.6	+	2	577	c.158A>G	c.(157-159)gAt>gGt	p.D53G	RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.D34G|PA2G4_ENST00000552766.1_Missense_Mutation_p.D53G|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	53	RNA-binding.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			gagaaaggtgatgccatgATT	0.433																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(157-159)gAt>gGt		proliferation-associated 2G4, 38kDa							78.0	73.0	75.0					12																	56500441		2201	4299	6500	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56500441A>G	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.158A>G	12.37:g.56500441A>G	ENSP00000302886:p.Asp53Gly					RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.D53G|RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.D34G	p.D53G	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		2	577	+			53			RNA-binding.		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.158A>G	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	A	33	5.206618	0.95033	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	6.03	6.03	0.97812	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	M	0.94063	3.49	0.80722	D	1	P;D;D	0.71674	0.932;0.998;0.998	P;D;D	0.80764	0.718;0.99;0.994	D	0.93081	0.6491	10	0.87932	D	0	.	15.5407	0.76043	1.0:0.0:0.0:0.0	.	53;53;53	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	G	34;53;53;82;53;53;42	ENSP00000449770:D34G;ENSP00000302886:D53G;ENSP00000448557:D53G;ENSP00000447615:D42G	ENSP00000302886:D53G	D	+	2	0	PA2G4;RP11-603J24.9	54786708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.815000	0.91973	2.308000	0.77769	0.533000	0.62120	GAT		0.433	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		20	34	0	0	0	0.055883	0	20	34				
NCOA1	8648	broad.mit.edu	37	2	24964736	24964736	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:24964736G>A	ENST00000406961.1	+	19	4039	c.3387G>A	c.(3385-3387)caG>caA	p.Q1129Q	NCOA1_ENST00000405141.1_Silent_p.Q1129Q|NCOA1_ENST00000407230.1_Silent_p.Q978Q|NCOA1_ENST00000348332.3_Silent_p.Q1129Q|NCOA1_ENST00000395856.3_Silent_p.Q1129Q|NCOA1_ENST00000538539.1_Silent_p.Q1129Q|NCOA1_ENST00000288599.5_Silent_p.Q1129Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1129	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATACAGCAGCAAAGAGCCA	0.522			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(3385-3387)caG>caA		nuclear receptor coactivator 1							109.0	93.0	98.0					2																	24964736		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24964736G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3387G>A	2.37:g.24964736G>A						NCOA1_ENST00000288599.5_Silent_p.Q1129Q|NCOA1_ENST00000538539.1_Silent_p.Q1129Q|NCOA1_ENST00000395856.3_Silent_p.Q1129Q|NCOA1_ENST00000407230.1_Silent_p.Q978Q|NCOA1_ENST00000406961.1_Silent_p.Q1129Q|NCOA1_ENST00000348332.3_Silent_p.Q1129Q	p.Q1129Q			Q15788	NCOA1_HUMAN			20	4098	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1129			Gln-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.3387G>A	CCDS1712.1																																																																																				0.522	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		3	76	0	0	0	0.009096	0	3	76				
KLHL41	10324	broad.mit.edu	37	2	170367185	170367185	+	Silent	SNP	A	A	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:170367185A>C	ENST00000284669.1	+	1	974	c.897A>C	c.(895-897)ggA>ggC	p.G299G	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	299					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											CCAGGCATGGAATGTTTGTAA	0.473																																						ENST00000284669.1																			0											c.(895-897)ggA>ggC		kelch-like family member 41							139.0	139.0	139.0					2																	170367185		2203	4300	6503	SO:0001819	synonymous_variant	10324							g.chr2:170367185A>C	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.897A>C	2.37:g.170367185A>C						RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	p.G299G	NM_006063.2	NP_006054.2					1	974	+								Q53R42	Silent	SNP	ENST00000284669.1	37	c.897A>C	CCDS2234.1																																																																																				0.473	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		3	80	0	0	0	0.115264	0	3	80				
FMN2	56776	broad.mit.edu	37	1	240371079	240371079	+	Silent	SNP	T	T	G	rs557827551		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:240371079T>G	ENST00000319653.9	+	5	3197	c.2967T>G	c.(2965-2967)ccT>ccG	p.P989P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	989	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCTCCCCCACTTC	0.711																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2965-2967)ccT>ccG		formin 2							12.0	14.0	13.0					1																	240371079		2173	4256	6429	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371079T>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2967T>G	1.37:g.240371079T>G							p.P989P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3197	+	Ovarian(103;0.127)	all_cancers(173;0.013)	989			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2967T>G	CCDS31069.2																																																																																				0.711	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	121	0	0	0	0.009096	0	4	121				
USP36	57602	broad.mit.edu	37	17	76802345	76802345	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr17:76802345G>A	ENST00000542802.3	-	15	2552	c.2109C>T	c.(2107-2109)acC>acT	p.T703T	USP36_ENST00000312010.6_Silent_p.T703T|USP36_ENST00000449938.2_Silent_p.T403T|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	703					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.T703T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGTCATTGCCGGTCGCCCTCC	0.542																																						ENST00000312010.6																			2	Substitution - coding silent(2)	p.T703T(2)	endometrium(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2107-2109)acC>acT		ubiquitin specific peptidase 36							71.0	72.0	72.0					17																	76802345		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76802345G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2109C>T	17.37:g.76802345G>A						USP36_ENST00000449938.2_Silent_p.T403T|USP36_ENST00000542802.2_Silent_p.T703T	p.T703T	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		15	2433	-			703					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.2109C>T	CCDS32755.1																																																																																				0.542	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		3	108	0	0	0	0.115264	0	3	108				
AGO2	27161	broad.mit.edu	37	8	141559263	141559263	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr8:141559263G>A	ENST00000220592.5	-	12	1650	c.1538C>T	c.(1537-1539)gCg>gTg	p.A513V	AGO2_ENST00000519980.1_Missense_Mutation_p.A513V	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	513					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.A513V(1)									CTGCAGGCCCGCATACGTGTT	0.682																																						ENST00000220592.5																			1	Substitution - Missense(1)	p.A513V(1)	endometrium(1)								c.(1537-1539)gCg>gTg		argonaute RISC catalytic component 2							52.0	51.0	52.0					8																	141559263		2203	4300	6503	SO:0001583	missense	27161							g.chr8:141559263G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1538C>T	8.37:g.141559263G>A	ENSP00000220592:p.Ala513Val					AGO2_ENST00000519980.1_Missense_Mutation_p.A513V	p.A513V	NM_012154.3	NP_036286.2					12	1650	-								Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1538C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594448	0.28445	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.05199	3.48;3.49	5.41	4.53	0.55603	Ribonuclease H-like (1);	0.235833	0.44902	D	0.000409	T	0.03477	0.0100	N	0.03324	-0.35	0.22666	N	0.99887	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41342	-0.9514	10	0.28530	T	0.3	-1.1407	14.3156	0.66450	0.0718:0.0:0.9282:0.0	.	513;513	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	V	513	ENSP00000220592:A513V;ENSP00000430176:A513V	ENSP00000220592:A513V	A	-	2	0	EIF2C2	141628445	0.974000	0.33945	0.300000	0.25030	0.809000	0.45718	4.276000	0.58933	1.418000	0.47098	0.655000	0.94253	GCG		0.682	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			3	48	0	0	0	0.115264	0	3	48				
IGHV3-49	28423	broad.mit.edu	37	14	107013366	107013366	+	RNA	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr14:107013366A>G	ENST00000390625.2	-	0	111									immunoglobulin heavy variable 3-49																		TAAAATAGCAACAAGGAAAAC	0.478																																						ENST00000390625.2																			0																				141.0	136.0	138.0					14																	107013366		1889	4117	6006			0							g.chr14:107013366A>G	M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107013366A>G														0	111	-									RNA	SNP	ENST00000390625.2	37																																																																																						0.478	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324613.1	NG_001019		4	180	0	0	0	0.021553	0	4	180				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	164	0	0	0	0.021553	0	4	164				
MOGAT2	80168	broad.mit.edu	37	11	75442250	75442250	+	Silent	SNP	T	T	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:75442250T>C	ENST00000198801.5	+	6	994	c.924T>C	c.(922-924)taT>taC	p.Y308Y	MOGAT2_ENST00000526712.1_Silent_p.Y226Y	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	308					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					ACCAGCGTTATATCAAAGAGC	0.562																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(676-678)taT>taC		monoacylglycerol O-acyltransferase 2							118.0	103.0	108.0					11																	75442250		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442250T>C	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.924T>C	11.37:g.75442250T>C						MOGAT2_ENST00000198801.5_Silent_p.Y308Y	p.Y226Y			Q3SYC2	MOGT2_HUMAN			5	1451	+	Ovarian(111;0.103)		308					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.678T>C	CCDS8240.1																																																																																				0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		4	127	0	0	0	0.014758	0	4	127				
ZC3H12C	85463	broad.mit.edu	37	11	110035909	110035909	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:110035909A>G	ENST00000278590.3	+	6	2150	c.2099A>G	c.(2098-2100)aAg>aGg	p.K700R	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.K701R|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.K669R	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	700							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTCCATCACAAGCCTCCTCTT	0.587																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2005-2007)aAg>aGg		zinc finger CCCH-type containing 12C							158.0	182.0	174.0					11																	110035909		2122	4233	6355	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035909A>G		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2099A>G	11.37:g.110035909A>G	ENSP00000278590:p.Lys700Arg					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.K701R|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.K700R	p.K669R			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	2887	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	700					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2006A>G	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454200	0.84209	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.38077	1.16;1.16;1.19	5.94	4.82	0.62117	.	0.217538	0.48286	D	0.000188	T	0.39627	0.1085	L	0.49126	1.545	0.40954	D	0.984568	D;D;D	0.59767	0.986;0.971;0.986	P;P;P	0.49922	0.626;0.572;0.626	T	0.17410	-1.0370	10	0.32370	T	0.25	-27.6444	11.4763	0.50300	0.9304:0.0:0.0696:0.0	.	701;700;700	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	R	700;701;669	ENSP00000278590:K700R;ENSP00000431821:K701R;ENSP00000413094:K669R	ENSP00000278590:K700R	K	+	2	0	ZC3H12C	109541119	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.175000	0.77632	2.272000	0.75746	0.459000	0.35465	AAG		0.587	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		12	311	0	0	0	0.105934	0	12	311				
SULT1A1	6817	broad.mit.edu	37	16	28620147	28620147	+	Silent	SNP	C	C	T	rs368999670		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr16:28620147C>T	ENST00000395607.1	-	2	303	c.30G>A	c.(28-30)ccG>ccA	p.P10P	SULT1A1_ENST00000569554.1_Silent_p.P10P|SULT1A1_ENST00000314752.7_Silent_p.P10P|SULT1A1_ENST00000395609.1_Silent_p.P10P|SULT1A1_ENST00000350842.4_Intron	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	ACTCCAGTGGCGGGCGGGAGG	0.607																																						ENST00000395609.1																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(28-30)ccG>ccA		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1		C	,,,,	2,4392		0,2,2195	49.0	51.0	51.0		30,30,30,30,	-4.8	0.0	16		51	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	SULT1A1	NM_001055.3,NM_177529.2,NM_177530.2,NM_177534.2,NM_177536.3	,,,,	0,3,6494	TT,TC,CC		0.0116,0.0455,0.0231	,,,,	10/296,10/296,10/296,10/296,	28620147	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28620147C>T	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.30G>A	16.37:g.28620147C>T						SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000395607.1_Silent_p.P10P|SULT1A1_ENST00000569554.1_Silent_p.P10P|SULT1A1_ENST00000314752.7_Silent_p.P10P	p.P10P			P50225	ST1A1_HUMAN			4	788	-			10					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	ENST00000395607.1	37	c.30G>A	CCDS32420.1																																																																																				0.607	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		14	77	0	0	0	0.033300	0	14	77				
PDE4DIP	9659	broad.mit.edu	37	1	144859906	144859906	+	Missense_Mutation	SNP	G	G	T	rs182136884		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:144859906G>T	ENST00000369354.3	-	38	6367	c.6178C>A	c.(6178-6180)Cag>Aag	p.Q2060K	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2145K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2060K|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1954K|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2196K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2060					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAATGCTCTGCTCCAGCTGC	0.577			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6586-6588)Cag>Aag		phosphodiesterase 4D interacting protein							82.0	77.0	79.0					1																	144859906		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144859906G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6178C>A	1.37:g.144859906G>T	ENSP00000358360:p.Gln2060Lys					PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2145K|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q2060K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2060K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1954K	p.Q2196K			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	41	6624	-			2060					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6586C>A	CCDS30824.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.396	-0.579398	0.03854	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01505	4.82;4.91;4.91;4.92;4.91	5.1	0.961	0.19638	.	.	.	.	.	T	0.00608	0.0020	L	0.43152	1.355	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.0	T	0.45731	-0.9241	9	0.34782	T	0.22	.	2.6421	0.04974	0.1614:0.2665:0.4356:0.1366	.	1954;2060	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	K	1954;2060;2060;2145;2196	ENSP00000327209:Q1954K;ENSP00000358360:Q2060K;ENSP00000358363:Q2060K;ENSP00000435654:Q2145K;ENSP00000358366:Q2196K	ENSP00000327209:Q1954K	Q	-	1	0	PDE4DIP	143571263	0.990000	0.36364	0.996000	0.52242	0.001000	0.01503	0.798000	0.27014	0.255000	0.21593	-0.894000	0.02916	CAG		0.577	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		8	135	1	0	0.00448238	0.047766	0.00625842	8	135				
LSR	51599	broad.mit.edu	37	19	35757281	35757281	+	Silent	SNP	A	A	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr19:35757281A>T	ENST00000361790.3	+	6	1101	c.942A>T	c.(940-942)gcA>gcT	p.A314A	LSR_ENST00000347609.4_Silent_p.A277A|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000602122.1_Silent_p.A295A|USF2_ENST00000379134.3_5'Flank|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000360798.3_Silent_p.A246A|LSR_ENST00000354900.3_Silent_p.A295A|LSR_ENST00000427250.1_Silent_p.A158A|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000595068.1_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	314					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGGCAAAGCAGCCACCTCAG	0.617																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(883-885)gcA>gcT		lipolysis stimulated lipoprotein receptor							89.0	89.0	89.0					19																	35757281		2203	4300	6503	SO:0001819	synonymous_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757281A>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.942A>T	19.37:g.35757281A>T						LSR_ENST00000361790.3_Silent_p.A314A|LSR_ENST00000354900.3_Silent_p.A295A|LSR_ENST00000347609.4_Silent_p.A277A|LSR_ENST00000427250.1_Silent_p.A158A|LSR_ENST00000360798.3_Silent_p.A246A	p.A295A			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	1372	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		314			Cys-rich.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	c.885A>T	CCDS12450.1																																																																																				0.617	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		7	202	0	0	0	0.047766	0	7	202				
ZNF611	81856	broad.mit.edu	37	19	53208567	53208567	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr19:53208567G>C	ENST00000319783.1	-	7	2057	c.1741C>G	c.(1741-1743)Ctt>Gtt	p.L581V	ZNF611_ENST00000453741.2_Missense_Mutation_p.L512V|ZNF611_ENST00000595798.1_Missense_Mutation_p.L512V|ZNF611_ENST00000540744.1_Missense_Mutation_p.L581V|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000543227.1_Missense_Mutation_p.L581V|ZNF611_ENST00000602162.1_Missense_Mutation_p.L512V	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGGCATACAAGGTATGACCTG	0.438																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1741-1743)Ctt>Gtt		zinc finger protein 611							262.0	238.0	246.0					19																	53208567		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208567G>C	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1741C>G	19.37:g.53208567G>C	ENSP00000322427:p.Leu581Val					ZNF611_ENST00000540744.1_Missense_Mutation_p.L581V|ZNF611_ENST00000595798.1_Missense_Mutation_p.L512V|ZNF611_ENST00000453741.2_Missense_Mutation_p.L512V|ZNF611_ENST00000319783.1_Missense_Mutation_p.L581V|ZNF611_ENST00000602162.1_Missense_Mutation_p.L512V	p.L581V	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	2015	-			581					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1741C>G	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.238397	0.22711	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	1.58	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63200	0.2491	M	0.83012	2.62	0.09310	N	1	D	0.69078	0.997	D	0.69654	0.965	T	0.53457	-0.8436	9	0.66056	D	0.02	.	5.6345	0.17528	0.4699:0.0:0.5301:0.0	.	581	Q8N823	ZN611_HUMAN	V	581;581;512;581	ENSP00000437616:L581V;ENSP00000439211:L581V;ENSP00000443505:L512V;ENSP00000322427:L581V	ENSP00000322427:L581V	L	-	1	0	ZNF611	57900379	0.027000	0.19231	0.000000	0.03702	0.001000	0.01503	0.385000	0.20685	-0.501000	0.06605	-0.643000	0.03959	CTT		0.438	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		19	399	0	0	0	0.055883	0	19	399				
ITPR2	3709	broad.mit.edu	37	12	26731693	26731693	+	Missense_Mutation	SNP	G	G	A	rs200190856		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:26731693G>A	ENST00000381340.3	-	34	4999	c.4583C>T	c.(4582-4584)gCg>gTg	p.A1528V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1528					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGCTTTCTGCGCTGGGTTTGG	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		16488	0.001		0.0	False		,,,				2504	0.0					ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(4582-4584)gCg>gTg		inositol 1,4,5-trisphosphate receptor, type 2							120.0	117.0	118.0					12																	26731693		1861	4096	5957	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26731693G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4583C>T	12.37:g.26731693G>A	ENSP00000370744:p.Ala1528Val						p.A1528V	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			34	4999	-	Colorectal(261;0.0847)		1528					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.4583C>T	CCDS41764.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.368	-0.128998	0.06753	.	.	ENSG00000123104	ENST00000381340	T	0.63913	-0.07	5.12	2.18	0.27775	.	0.641709	0.16752	N	0.200981	T	0.43100	0.1232	N	0.19112	0.55	0.09310	N	0.999999	B	0.19073	0.033	B	0.11329	0.006	T	0.31138	-0.9954	10	0.38643	T	0.18	.	8.9605	0.35845	0.1441:0.126:0.7298:0.0	.	1528	Q14571	ITPR2_HUMAN	V	1528	ENSP00000370744:A1528V	ENSP00000370744:A1528V	A	-	2	0	ITPR2	26622960	0.010000	0.17322	0.002000	0.10522	0.138000	0.21146	1.779000	0.38624	1.379000	0.46325	0.585000	0.79938	GCG		0.393	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		12	123	0	0	0	0.119110	0	12	123				
ZBTB22	9278	broad.mit.edu	37	6	33283595	33283595	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:33283595G>A	ENST00000431845.2	-	2	1250	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.P367S|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TTGTCTGGGGGCTCACTCAGG	0.577																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1099-1101)Ccc>Tcc		zinc finger and BTB domain containing 22							113.0	111.0	112.0					6																	33283595		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283595G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1099C>T	6.37:g.33283595G>A	ENSP00000407545:p.Pro367Ser					ZBTB22_ENST00000418724.1_Missense_Mutation_p.P367S	p.P367S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1250	-			367					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1099C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	6.310	0.425258	0.11987	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.05447	3.44;3.44	4.09	4.09	0.47781	.	0.000000	0.33346	N	0.005015	T	0.01940	0.0061	L	0.38175	1.15	0.33034	D	0.530528	P	0.47762	0.9	B	0.38954	0.286	T	0.45071	-0.9286	10	0.09338	T	0.73	.	13.8509	0.63496	0.0:0.0:1.0:0.0	.	367	O15209	ZBT22_HUMAN	S	367	ENSP00000404403:P367S;ENSP00000407545:P367S	ENSP00000404403:P367S	P	-	1	0	ZBTB22	33391573	1.000000	0.71417	0.989000	0.46669	0.778000	0.44026	3.538000	0.53597	2.107000	0.64212	0.448000	0.29417	CCC		0.577	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			14	156	0	0	0	0.119110	0	14	156				
PPWD1	23398	broad.mit.edu	37	5	64875316	64875316	+	Missense_Mutation	SNP	T	T	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:64875316T>G	ENST00000261308.5	+	7	1298	c.1226T>G	c.(1225-1227)aTa>aGa	p.I409R	PPWD1_ENST00000538977.1_Missense_Mutation_p.I253R|PPWD1_ENST00000535264.1_Missense_Mutation_p.I379R	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	409					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TTCCAGGGGATAGCCAAAAAG	0.358																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(1225-1227)aTa>aGa		peptidylprolyl isomerase domain and WD repeat containing 1							88.0	89.0	89.0					5																	64875316		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64875316T>G	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1226T>G	5.37:g.64875316T>G	ENSP00000261308:p.Ile409Arg					PPWD1_ENST00000538977.1_Missense_Mutation_p.I253R|PPWD1_ENST00000535264.1_Missense_Mutation_p.I379R	p.I409R	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	7	1298	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	409					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.1226T>G	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.732799	0.48939	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977	T;T;T	0.60797	0.16;0.35;2.0	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);	0.053134	0.64402	D	0.000001	T	0.35158	0.0922	N	0.04203	-0.255	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22591	-1.0212	10	0.15499	T	0.54	.	15.7482	0.77962	0.0:0.0:0.0:1.0	.	379;409	F5H7P7;Q96BP3	.;PPWD1_HUMAN	R	409;379;253	ENSP00000261308:I409R;ENSP00000442371:I379R;ENSP00000444496:I253R	ENSP00000261308:I409R	I	+	2	0	PPWD1	64911072	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.640000	0.83355	2.120000	0.65058	0.533000	0.62120	ATA		0.358	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		3	71	0	0	0	0.115264	0	3	71				
UGT2B7	7364	broad.mit.edu	37	4	69962710	69962710	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr4:69962710G>A	ENST00000508661.1	+	1	499	c.472G>A	c.(472-474)Gag>Aag	p.E158K	UGT2B7_ENST00000305231.7_Missense_Mutation_p.E158K|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	158					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCCCTGTAGTGAGCTGCTGGC	0.368																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(472-474)Gag>Aag		UDP glucuronosyltransferase 2 family, polypeptide B7							137.0	137.0	137.0					4																	69962710		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962710G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.472G>A	4.37:g.69962710G>A	ENSP00000427659:p.Glu158Lys					UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.E158K	p.E158K	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	518	+			158					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.472G>A		.	.	.	.	.	.	.	.	.	.	G	16.20	3.055578	0.55325	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60548	0.18;0.18	2.54	2.54	0.30619	.	0.081913	0.47852	U	0.000201	T	0.77116	0.4083	M	0.92604	3.325	0.26437	N	0.975838	P;P	0.51147	0.942;0.736	P;P	0.62435	0.902;0.641	T	0.69665	-0.5084	9	.	.	.	.	10.7765	0.46353	0.0:0.0:1.0:0.0	.	158;158	E9PBP8;P16662	.;UD2B7_HUMAN	K	158	ENSP00000304811:E158K;ENSP00000427659:E158K	.	E	+	1	0	UGT2B7	69997299	1.000000	0.71417	0.539000	0.28077	0.027000	0.11550	5.430000	0.66501	1.408000	0.46895	0.313000	0.20887	GAG		0.368	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		36	117	0	0	0	0.117977	0	36	117				
FBXO11	80204	broad.mit.edu	37	2	48066119	48066119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:48066119G>A	ENST00000403359.3	-	4	538	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	FBXO11_ENST00000378314.3_Nonsense_Mutation_p.Q38*|FBXO11_ENST00000316377.4_Nonsense_Mutation_p.Q72*|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Nonsense_Mutation_p.Q72*	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	156	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTTCTCCTGAAGATACTGT	0.353			"""Mis, F, D"""		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"""Mis, F, D"""	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(466-468)Cag>Tag		F-box protein 11							81.0	78.0	79.0					2																	48066119		2203	4300	6503	SO:0001587	stop_gained	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48066119G>A	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.466C>T	2.37:g.48066119G>A	ENSP00000384823:p.Gln156*					FBXO11_ENST00000316377.4_Nonsense_Mutation_p.Q72*|FBXO11_ENST00000402508.1_Nonsense_Mutation_p.Q72*|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000378314.3_Nonsense_Mutation_p.Q38*	p.Q156*	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	538	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	156			F-box.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Nonsense_Mutation	SNP	ENST00000403359.3	37	c.466C>T	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408787	0.96072	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000424163;ENST00000378314	.	.	.	5.6	5.6	0.85130	.	0.049923	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-1.3811	19.6087	0.95589	0.0:0.0:1.0:0.0	.	.	.	.	X	72;156;72;72;38	.	ENSP00000323822:Q72X	Q	-	1	0	FBXO11	47919623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.865000	0.99609	2.629000	0.89072	0.563000	0.77884	CAG		0.353	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		5	101	0	0	0	0.014758	0	5	101				
PPWD1	23398	broad.mit.edu	37	5	64875317	64875317	+	Silent	SNP	A	A	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:64875317A>C	ENST00000261308.5	+	7	1299	c.1227A>C	c.(1225-1227)atA>atC	p.I409I	PPWD1_ENST00000538977.1_Silent_p.I253I|PPWD1_ENST00000535264.1_Silent_p.I379I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	409					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TCCAGGGGATAGCCAAAAAGC	0.358																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(1225-1227)atA>atC		peptidylprolyl isomerase domain and WD repeat containing 1							87.0	88.0	88.0					5																	64875317		2203	4300	6503	SO:0001819	synonymous_variant	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64875317A>C	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1227A>C	5.37:g.64875317A>C						PPWD1_ENST00000538977.1_Silent_p.I253I|PPWD1_ENST00000535264.1_Silent_p.I379I	p.I409I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	7	1299	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	409					B4DWR9|Q15002|Q7KZ89	Silent	SNP	ENST00000261308.5	37	c.1227A>C	CCDS3985.1																																																																																				0.358	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		3	71	0	0	0	0.115264	0	3	71				
OR8H2	390151	broad.mit.edu	37	11	55872537	55872537	+	Missense_Mutation	SNP	A	A	G	rs61746549	byFrequency	TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:55872537A>G	ENST00000313503.1	+	1	19	c.19A>G	c.(19-21)Aac>Gac	p.N7D		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N7D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TAGAAGGAATAACACAAATGT	0.438										HNSCC(53;0.14)			N|||	4	0.000798722	0.0008	0.0014	5008	,	,		18426	0.0		0.0	False		,,,				2504	0.002					ENST00000313503.1																			1	Substitution - Missense(1)	p.N7D(1)	kidney(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(19-21)Aac>Gac		olfactory receptor, family 8, subfamily H, member 2							196.0	187.0	190.0					11																	55872537		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872537A>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.19A>G	11.37:g.55872537A>G	ENSP00000323982:p.Asn7Asp	HNSCC(53;0.14)					p.N7D	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	19	+	Esophageal squamous(21;0.00693)		7					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.19A>G	CCDS31518.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	7.027	0.559788	0.13436	.	.	ENSG00000181767	ENST00000313503	T	0.00509	6.91	3.74	-2.34	0.06704	.	1.169330	0.06223	N	0.687064	T	0.00300	0.0009	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41805	-0.9488	10	0.30854	T	0.27	.	0.2174	0.00164	0.3775:0.1477:0.1868:0.288	rs61746549	7	Q8N162	OR8H2_HUMAN	D	7	ENSP00000323982:N7D	ENSP00000323982:N7D	N	+	1	0	OR8H2	55629113	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.679000	0.01940	-0.566000	0.06054	-1.639000	0.00775	AAC		0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		4	227	0	0	0	0.014758	0	4	227				
SRPR	6734	broad.mit.edu	37	11	126134958	126134958	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:126134958G>A	ENST00000332118.6	-	11	1575	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.A446V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	474					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AGGGTGTAGGGCACTCAAACG	0.552																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(1420-1422)gCc>gTc		signal recognition particle receptor (docking protein)							71.0	64.0	66.0					11																	126134958		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126134958G>A	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1421C>T	11.37:g.126134958G>A	ENSP00000328023:p.Ala474Val					SRPR_ENST00000532259.1_Missense_Mutation_p.A446V	p.A474V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	11	1575	-	all_hematologic(175;0.145)		474					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1421C>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667473	0.96745	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.26	5.26	0.73747	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.106814	0.64402	D	0.000004	T	0.71256	0.3318	L	0.57536	1.79	0.80722	D	1	P;P	0.45768	0.775;0.866	P;P	0.51974	0.686;0.686	T	0.71318	-0.4629	9	0.49607	T	0.09	-16.4354	19.0619	0.93096	0.0:0.0:1.0:0.0	.	446;474	E9PJS4;P08240	.;SRPR_HUMAN	V	474;446	.	ENSP00000328023:A474V	A	-	2	0	SRPR	125640168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.744000	0.94065	0.650000	0.86243	GCC		0.552	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		3	49	0	0	0	0.009096	0	3	49				
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C	rs371946225	byFrequency	TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522																																						ENST00000550753.1																			0																																																			0							g.chr16:22588087G>C																													16.37:g.22588087G>C								NR_003676.2						0	2562	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.522	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			4	21	0	0	0	0.009096	0	4	21				
MOV10	4343	broad.mit.edu	37	1	113241362	113241362	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:113241362C>G	ENST00000413052.2	+	17	2924	c.2534C>G	c.(2533-2535)aCc>aGc	p.T845S	MOV10_ENST00000468624.1_3'UTR|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.T845S|MOV10_ENST00000357443.2_Missense_Mutation_p.T845S|MOV10_ENST00000369644.1_Missense_Mutation_p.T789S	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	845					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TACTGCATCACCAAACTTGAC	0.557																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(2365-2367)aCc>aGc		Mov10, Moloney leukemia virus 10, homolog (mouse)							302.0	271.0	281.0					1																	113241362		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113241362C>G	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2534C>G	1.37:g.113241362C>G	ENSP00000399797:p.Thr845Ser					MOV10_ENST00000413052.2_Missense_Mutation_p.T845S|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.T845S|MOV10_ENST00000369645.1_Missense_Mutation_p.T845S	p.T789S			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	18	3395	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	845					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.2366C>G	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706939	0.48412	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	4.85	4.85	0.62838	.	0.302551	0.36303	N	0.002680	T	0.74435	0.3716	N	0.13003	0.285	0.80722	D	1	B	0.19200	0.034	B	0.28385	0.089	T	0.69741	-0.5063	10	0.15066	T	0.55	-18.6234	9.2376	0.37475	0.0:0.9006:0.0:0.0994	.	845	Q9HCE1	MOV10_HUMAN	S	845;845;789;845;783	ENSP00000399797:T845S;ENSP00000358659:T845S;ENSP00000358658:T789S;ENSP00000350028:T845S	ENSP00000350028:T845S	T	+	2	0	MOV10	113042885	0.986000	0.35501	1.000000	0.80357	0.986000	0.74619	2.787000	0.47798	2.241000	0.73720	0.313000	0.20887	ACC		0.557	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		4	283	0	0	0	0.029380	0	4	283				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	166	0	0	0	0.021553	0	4	166				
EID3	493861	broad.mit.edu	37	12	104698071	104698071	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:104698071G>A	ENST00000527879.1	+	1	555	c.359G>A	c.(358-360)tGt>tAt	p.C120Y	TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TTAGCATTTTGTGACTTTCTG	0.428																																						ENST00000527879.1																			0				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(358-360)tGt>tAt		EP300 interacting inhibitor of differentiation 3							205.0	204.0	204.0					12																	104698071		1970	4155	6125	SO:0001583	missense	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104698071G>A	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.359G>A	12.37:g.104698071G>A	ENSP00000435619:p.Cys120Tyr					TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron	p.C120Y	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN			1	555	+			120						Missense_Mutation	SNP	ENST00000527879.1	37	c.359G>A	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602009	0.66445	.	.	ENSG00000255150	ENST00000527879	T	0.42131	0.98	4.42	3.45	0.39498	.	.	.	.	.	T	0.48150	0.1484	L	0.51422	1.61	0.09310	N	1	P	0.40230	0.708	P	0.51170	0.661	T	0.27365	-1.0076	9	0.40728	T	0.16	.	9.8419	0.41004	0.0:0.209:0.791:0.0	.	120	Q8N140	EID3_HUMAN	Y	120	ENSP00000435619:C120Y	ENSP00000435619:C120Y	C	+	2	0	EID3	103222201	0.996000	0.38824	0.466000	0.27168	0.505000	0.33919	2.290000	0.43531	2.469000	0.83416	0.555000	0.69702	TGT		0.428	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		5	247	0	0	0	0.021553	0	5	247				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	75	0	0	0	0.021553	0	3	75				
SUPV3L1	6832	broad.mit.edu	37	10	70968592	70968592	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr10:70968592C>G	ENST00000359655.4	+	15	2222	c.2162C>G	c.(2161-2163)aCt>aGt	p.T721S		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	721	Interaction with LAMTOR5, important for protein stability.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTAAAGCTACTGAGCCACCC	0.537																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2161-2163)aCt>aGt		suppressor of var1, 3-like 1 (S. cerevisiae)							76.0	70.0	72.0					10																	70968592		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70968592C>G	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.2162C>G	10.37:g.70968592C>G	ENSP00000352678:p.Thr721Ser						p.T721S	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			15	2222	+			721			Interaction with HBXIP, important for protein stability.		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.2162C>G	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.724526	0.00694	.	.	ENSG00000156502	ENST00000359655	T	0.28895	1.59	5.9	2.74	0.32292	.	0.805242	0.11393	N	0.568601	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31586	-0.9938	10	0.09338	T	0.73	0.0536	6.3229	0.21227	0.0:0.5484:0.1342:0.3174	.	721	Q8IYB8	SUV3_HUMAN	S	721	ENSP00000352678:T721S	ENSP00000352678:T721S	T	+	2	0	SUPV3L1	70638598	0.000000	0.05858	0.044000	0.18714	0.047000	0.14425	0.242000	0.18087	1.372000	0.46190	0.650000	0.86243	ACT		0.537	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		3	83	0	0	0	0.009096	0	3	83				
ELMO1	9844	broad.mit.edu	37	7	37172827	37172827	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr7:37172827G>C	ENST00000310758.4	-	14	1746	c.1099C>G	c.(1099-1101)Cct>Gct	p.P367A	ELMO1_ENST00000448602.1_Missense_Mutation_p.P367A|ELMO1_ENST00000341056.3_Missense_Mutation_p.P69A|ELMO1_ENST00000442504.1_Missense_Mutation_p.P367A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	367	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCATGGCAGGGTTGACATGA	0.463																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1099-1101)Cct>Gct		engulfment and cell motility 1							143.0	123.0	130.0					7																	37172827		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37172827G>C	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1099C>G	7.37:g.37172827G>C	ENSP00000312185:p.Pro367Ala					ELMO1_ENST00000442504.1_Missense_Mutation_p.P367A|ELMO1_ENST00000341056.3_Missense_Mutation_p.P69A|ELMO1_ENST00000448602.1_Missense_Mutation_p.P367A	p.P367A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			14	1746	-			367			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1099C>G	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668918	0.88348	.	.	ENSG00000155849	ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.27	5.27	0.74061	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	M	0.80508	2.5	0.80722	D	1	D	0.67145	0.996	D	0.67900	0.954	T	0.82675	-0.0340	10	0.87932	D	0	.	18.0472	0.89336	0.0:0.0:1.0:0.0	.	367	Q92556	ELMO1_HUMAN	A	69;367;271;367;367	ENSP00000342142:P69A;ENSP00000312185:P367A;ENSP00000406952:P367A;ENSP00000394458:P367A	ENSP00000312185:P367A	P	-	1	0	ELMO1	37139352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.813000	0.91963	2.650000	0.89964	0.655000	0.94253	CCT		0.463	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		32	71	0	0	0	0.144211	0	32	71				
SYT12	91683	broad.mit.edu	37	11	66807525	66807525	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:66807525G>A	ENST00000393946.2	+	7	1634	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	SYT12_ENST00000525457.1_Missense_Mutation_p.V158M|SYT12_ENST00000527043.1_Missense_Mutation_p.V158M|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	158						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCAGGTGGAGGTGAGCATGGA	0.627																																					Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(472-474)Gtg>Atg		synaptotagmin XII							76.0	69.0	72.0					11																	66807525		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66807525G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.472G>A	11.37:g.66807525G>A	ENSP00000377520:p.Val158Met					SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000525457.1_Missense_Mutation_p.V158M|SYT12_ENST00000527043.1_Missense_Mutation_p.V158M	p.V158M			Q8IV01	SYT12_HUMAN			7	1634	+			158						Missense_Mutation	SNP	ENST00000393946.2	37	c.472G>A	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648710	0.87958	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.73152	-0.72;-0.72;-0.72	5.63	5.63	0.86233	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.79642	-0.1718	10	0.87932	D	0	.	17.1708	0.86830	0.0:0.0:1.0:0.0	.	158	Q8IV01	SYT12_HUMAN	M	158	ENSP00000377520:V158M;ENSP00000431400:V158M;ENSP00000435316:V158M	ENSP00000377520:V158M	V	+	1	0	SYT12	66564101	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.813000	0.99286	2.655000	0.90218	0.462000	0.41574	GTG		0.627	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		5	113	0	0	0	0.021553	0	5	113				
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-	rs377513079		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:18264079_18264081delTCC	ENST00000397239.3	-	2	585_587	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	DEK_ENST00000244776.7_In_Frame_Del_p.46_47EE>E	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	46	Asp/Glu-rich (highly acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(136-141)gaa>ga		DEK oncogene			,	77,1,4184		12,0,53,0,1,2065					,	-0.3	1.0			50	90,5,8159		17,0,56,0,5,4049	no	codingComplex,codingComplex	DEK	NM_003472.3,NM_001134709.1	,	29,0,109,0,6,6114	A1A1,A1A2,A1R,A2A2,A2R,RR		1.151,1.8301,1.3822	,	,		167,6,12343				SO:0001651	inframe_deletion	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18264079_18264081delTCC	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.138_140delGGA	6.37:g.18264088_18264090delTCC	ENSP00000380414:p.Glu47del					DEK_ENST00000244776.7_In_Frame_Del_p.EE46del	p.EE46del	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		2	585_587	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	46			Asp/Glu-rich (highly acidic).		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	In_Frame_Del	DEL	ENST00000397239.3	37	c.138_140delGGA	CCDS34344.1																																																																																				0.532	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			12	97						12	97	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522327	32522328	+	RNA	INS	-	-	CCCAGTAG	rs144707340		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:32522327_32522328insCCCAGTAG	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ACAGGGCTACCCCCAGTGACCT	0.51																																						ENST00000411500.1																			0																																																			0							g.chr6:32522327_32522328insCCCAGTAG	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522327_32522328insCCCAGTAG								NR_001298.1						0	740	-									RNA	INS	ENST00000411500.1	37																																																																																						0.510	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	6						3	6	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523273	32523274	+	RNA	DEL	GA	GA	-	rs142054686		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:32523273_32523274delGA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ATTCCACTGTGAGAGGGCTCAT	0.396																																						ENST00000411500.1																			0																																																			0							g.chr6:32523273_32523274delGA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523275_32523276delGA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.396	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		9	38						9	38	---	---	---	---
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(268-270)del		olfactory receptor, family 10, subfamily A, member 2																																				SO:0001651	inframe_deletion	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891253_6891255delTTC	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.268_270delTTC	11.37:g.6891262_6891264delTTC	ENSP00000303862:p.Phe94del						p.F94del	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	330_332	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	94					B2RNL9|Q6IFG9	In_Frame_Del	DEL	ENST00000307322.4	37	c.268_270delTTC	CCDS31415.1																																																																																				0.517	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		7	178						7	178	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112677750	112677751	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:112677750_112677751insA	ENST00000430131.2	-	32	4918_4919	c.3773_3774insT	c.(3772-3774)ctgfs	p.L1258fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.L1508fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.L1534fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1258					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AACGAGCACACAGAGACACAAC	0.465																																						ENST00000550722.1																			0											c.(4600-4602)ctgfs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112677750_112677751insA	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3774dupT	12.37:g.112677751_112677751dupA	ENSP00000404379:p.Leu1258fs					HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.L1258fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.L1508fs	p.L1534fs	NM_001109662.3	NP_001103132.3					33	4996_4997	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.4601_4602insT																																																																																					0.465	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		8	103						8	103	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			7	332						7	332	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20243404	20243405	+	RNA	DEL	AC	AC	-			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr19:20243404_20243405delAC	ENST00000590606.1	-	0	188				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							TCCCTGGAAAACACACACACAC	0.411																																						ENST00000590606.1																			0																																																			0							g.chr19:20243404_20243405delAC																													19.37:g.20243414_20243415delAC						CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA								0	188	-									RNA	DEL	ENST00000590606.1	37																																																																																						0.411	CTC-260E6.6-005	KNOWN	basic	antisense	antisense	OTTHUMT00000452859.1			11	155						11	155	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	0							g.chr20:29625899_29625900insAT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	146						8	146	---	---	---	---
