#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
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A	rs534005643		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr18:8609872C>A	ENST00000329286.6	+	1	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	49					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.G49G(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711																																						ENST00000329286.6																			1	Substitution - coding silent(1)	p.G49G(1)	prostate(1)	breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						c.(145-147)ggC>ggA		RAB12, member RAS oncogene family							12.0	17.0	15.0					18																	8609872		1918	4118	6036	SO:0001819	synonymous_variant	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8609872C>A		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.147C>A	18.37:g.8609872C>A							p.G49G	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN			1	430	+			49					A6NEF5|Q4KMQ3	Silent	SNP	ENST00000329286.6	37	c.147C>A	CCDS42410.1																																																																																				0.711	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967		4	20	1	0	0.00024832	1	0.000328423	4	20				
CLK3	1198	broad.mit.edu	37	15	74914890	74914890	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr15:74914890G>C	ENST00000395066.3	+	5	1427	c.966G>C	c.(964-966)ttG>ttC	p.L322F	CLK3_ENST00000348245.3_Missense_Mutation_p.W142S|CLK3_ENST00000352989.5_Intron|CLK3_ENST00000345005.4_Missense_Mutation_p.L174F	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	322	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L174F(2)|p.L322F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TGGAGTGCTTGGACCATGCCA	0.567																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			3	Substitution - Missense(3)	p.L174F(2)|p.L322F(1)	prostate(3)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(964-966)ttG>ttC		CDC-like kinase 3							93.0	83.0	87.0					15																	74914890		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74914890G>C	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.966G>C	15.37:g.74914890G>C	ENSP00000378505:p.Leu322Phe					CLK3_ENST00000348245.3_Missense_Mutation_p.W142S|CLK3_ENST00000345005.4_Missense_Mutation_p.L174F|CLK3_ENST00000352989.5_Intron	p.L322F	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			5	1427	+			322			Protein kinase.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.966G>C	CCDS45304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.52|13.52	2.262161|2.262161	0.39995|0.39995	.|.	.|.	ENSG00000179335|ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830|ENST00000348245	T|.	0.20598|.	2.06|.	5.75|5.75	4.78|4.78	0.61160|0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.104988|.	0.40554|.	N|.	0.001069|.	T|T	0.41236|0.41236	0.1150|0.1150	N|N	0.10837|0.10837	0.055|0.055	0.42698|0.42698	D|D	0.993604|0.993604	B;B|.	0.16603|.	0.011;0.018|.	B;B|.	0.11329|.	0.006;0.004|.	T|T	0.45891|0.45891	-0.9230|-0.9230	10|6	0.29301|0.87932	T|D	0.29|0	.|.	10.6173|10.6173	0.45458|0.45458	0.0735:0.1356:0.7908:0.0|0.0735:0.1356:0.7908:0.0	.|.	322;101|.	P49761;B3KUU7|.	CLK3_HUMAN;.|.	F|S	174;174;322|142	ENSP00000344112:L174F|.	ENSP00000344112:L174F|ENSP00000321136:W142S	L|W	+|+	3|2	2|0	CLK3|CLK3	72701943|72701943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.978000|0.978000	0.29488|0.29488	2.719000|2.719000	0.93026|0.93026	0.655000|0.655000	0.94253|0.94253	TTG|TGG		0.567	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			5	114	0	0	0	1	0	5	114				
ALPK2	115701	broad.mit.edu	37	18	56246150	56246150	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr18:56246150C>A	ENST00000361673.3	-	4	2071	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	620						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D620Y(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAGACTGAGTCTGTTGAAGTT	0.473											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			1	Substitution - Missense(1)	p.D620Y(1)	prostate(1)	NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1858-1860)Gac>Tac		alpha-kinase 2							196.0	181.0	186.0					18																	56246150		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246150C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1858G>T	18.37:g.56246150C>A	ENSP00000354991:p.Asp620Tyr		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'UTR	p.D620Y	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	2071	-			620					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1858G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694981	0.48202	.	.	ENSG00000198796	ENST00000361673	T	0.53206	0.63	5.5	3.67	0.42095	.	1.773910	0.03310	N	0.190372	T	0.51770	0.1694	L	0.39898	1.24	0.09310	N	1	D	0.56521	0.976	P	0.49999	0.628	T	0.35325	-0.9793	10	0.72032	D	0.01	-2.062	8.5274	0.33313	0.1516:0.7703:0.0:0.0781	.	620	Q86TB3	ALPK2_HUMAN	Y	620	ENSP00000354991:D620Y	ENSP00000354991:D620Y	D	-	1	0	ALPK2	54397130	0.001000	0.12720	0.001000	0.08648	0.664000	0.39144	1.354000	0.34056	0.653000	0.30826	0.655000	0.94253	GAC		0.473	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		5	160	1	0	1	1	1	5	160				
DDX3X	1654	broad.mit.edu	37	X	41196665	41196665	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chrX:41196665C>G	ENST00000399959.2	+	2	905	c.50C>G	c.(49-51)gCt>gGt	p.A17G	DDX3X_ENST00000441189.2_Missense_Mutation_p.A17G|DDX3X_ENST00000542215.1_Missense_Mutation_p.A61G|DDX3X_ENST00000457138.2_Missense_Mutation_p.A17G|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	17	Interaction with EIF4E.|Required for TBK1 and IKBKE-dependent IFN-beta activation.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.A17G(2)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTCTAGTTTGCTGGCCTAGAC	0.418										HNSCC(61;0.18)																												ENST00000399959.2																			2	Substitution - Missense(2)	p.A17G(2)	prostate(2)	NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(49-51)gCt>gGt		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							129.0	116.0	120.0					X																	41196665		1905	4121	6026	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41196665C>G	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.50C>G	X.37:g.41196665C>G	ENSP00000382840:p.Ala17Gly	HNSCC(61;0.18)				DDX3X_ENST00000441189.2_Missense_Mutation_p.A17G|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A17G|DDX3X_ENST00000542215.1_Missense_Mutation_p.A61G	p.A17G	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			2	905	+			17					A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.50C>G	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623728	0.66901	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000441189;ENST00000542215	T;T;T	0.48201	1.94;1.85;0.82	5.28	4.4	0.53042	.	0.161122	0.53938	D	0.000048	T	0.46776	0.1410	M	0.81942	2.565	0.52501	D	0.999957	P;B;B;B;B;B	0.35872	0.525;0.248;0.013;0.451;0.437;0.295	B;B;B;B;B;B	0.30316	0.081;0.114;0.023;0.112;0.037;0.037	T	0.49854	-0.8895	10	0.25751	T	0.34	-12.7037	13.9533	0.64131	0.0:0.9205:0.0:0.0795	.	17;17;17;17;29;17	B4DLA0;B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;.;DDX3X_HUMAN	G	17;17;17;61	ENSP00000382840:A17G;ENSP00000392494:A17G;ENSP00000439799:A61G	ENSP00000382840:A17G	A	+	2	0	DDX3X	41081609	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.942000	0.75928	2.341000	0.79615	0.513000	0.50165	GCT		0.418	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		3	38	0	0	0	1	0	3	38				
HGF	3082	broad.mit.edu	37	7	81359036	81359036	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:81359036G>T	ENST00000222390.5	-	8	1151	c.925C>A	c.(925-927)Caa>Aaa	p.Q309K	HGF_ENST00000457544.2_Missense_Mutation_p.Q304K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	309	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.Q309K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCTTCTCCTTGACCTTGGATG	0.398																																						ENST00000222390.5																			1	Substitution - Missense(1)	p.Q309K(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(925-927)Caa>Aaa		hepatocyte growth factor (hepapoietin A; scatter factor)							158.0	149.0	152.0					7																	81359036		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81359036G>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.925C>A	7.37:g.81359036G>T	ENSP00000222390:p.Gln309Lys					HGF_ENST00000457544.2_Missense_Mutation_p.Q304K	p.Q309K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			8	1151	-			309			Kringle 3.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.925C>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532342	0.27387	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.61392	0.11;0.11	5.46	5.46	0.80206	Kringle (4);Kringle-like fold (1);	0.099162	0.64402	D	0.000002	T	0.49457	0.1558	N	0.02111	-0.68	0.80722	D	1	D;D	0.65815	0.988;0.995	D;D	0.78314	0.985;0.991	T	0.50233	-0.8852	10	0.05525	T	0.97	.	19.68	0.95958	0.0:0.0:1.0:0.0	.	304;309	P14210-3;P14210	.;HGF_HUMAN	K	309;304	ENSP00000222390:Q309K;ENSP00000391238:Q304K	ENSP00000222390:Q309K	Q	-	1	0	HGF	81196972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.547000	0.60712	2.702000	0.92279	0.655000	0.94253	CAA		0.398	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		10	130	1	0	0.000442599	1	0.00056708	10	130				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	45	0	0	0	1	0	4	45				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	69	0	0	0	1	0	4	69				
RNF20	56254	broad.mit.edu	37	9	104314514	104314514	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:104314514A>T	ENST00000389120.3	+	12	1590	c.1500A>T	c.(1498-1500)aaA>aaT	p.K500N	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	500					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K500N(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATAAGCGGAAATTGAGAGAAG	0.448																																						ENST00000389120.3																			1	Substitution - Missense(1)	p.K500N(1)	prostate(1)	breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1498-1500)aaA>aaT		ring finger protein 20, E3 ubiquitin protein ligase							120.0	119.0	119.0					9																	104314514		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314514A>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1500A>T	9.37:g.104314514A>T	ENSP00000373772:p.Lys500Asn						p.K500N	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	12	1590	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	500					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1500A>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798085	0.50208	.	.	ENSG00000155827	ENST00000389120	T	0.38401	1.14	6.17	-1.92	0.07618	.	0.041302	0.85682	D	0.000000	T	0.26304	0.0642	L	0.52126	1.63	0.38413	D	0.945975	P	0.37781	0.608	B	0.35413	0.202	T	0.04481	-1.0948	10	0.54805	T	0.06	-24.9666	8.3323	0.32193	0.4509:0.0:0.4411:0.108	.	500	Q5VTR2	BRE1A_HUMAN	N	500	ENSP00000373772:K500N	ENSP00000373772:K500N	K	+	3	2	RNF20	103354335	0.009000	0.17119	0.086000	0.20670	0.989000	0.77384	0.074000	0.14662	-0.574000	0.05990	0.533000	0.62120	AAA		0.448	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		7	105	0	0	0	1	0	7	105				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	15	0	0	0	1	0	7	15				
KIRREL	55243	broad.mit.edu	37	1	158063224	158063224	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:158063224C>A	ENST00000359209.6	+	12	1634	c.1567C>A	c.(1567-1569)Cgc>Agc	p.R523S	KIRREL_ENST00000368173.3_Missense_Mutation_p.R539S|KIRREL_ENST00000368172.1_Missense_Mutation_p.R337S|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423S|KIRREL_ENST00000392272.2_Missense_Mutation_p.R420S|KIRREL_ENST00000360089.4_Missense_Mutation_p.R359S			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	523					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.R359S(1)|p.R539S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTCTACCGGCGCCGCAAAGG	0.602																																						ENST00000368172.1																			2	Substitution - Missense(2)	p.R359S(1)|p.R539S(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1009-1011)Cgc>Agc		kin of IRRE like (Drosophila)							126.0	124.0	125.0					1																	158063224		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158063224C>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1567C>A	1.37:g.158063224C>A	ENSP00000352138:p.Arg523Ser					KIRREL_ENST00000392272.2_Missense_Mutation_p.R420S|KIRREL_ENST00000359209.6_Missense_Mutation_p.R523S|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423S|KIRREL_ENST00000360089.4_Missense_Mutation_p.R359S|KIRREL_ENST00000368173.3_Missense_Mutation_p.R539S	p.R337S			Q96J84	KIRR1_HUMAN			8	1021	+	all_hematologic(112;0.0378)		523			Ig-like C2-type 4.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1009C>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	33	5.246616	0.95305	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.71461	0.36;-0.57;0.03;-0.22;-0.15;0.22	5.71	5.71	0.89125	.	0.000000	0.44097	D	0.000496	T	0.74473	0.3721	L	0.58101	1.795	0.58432	D	0.999992	D;D;D;D	0.60575	0.988;0.974;0.967;0.967	P;P;P;P	0.58172	0.834;0.553;0.471;0.471	T	0.74375	-0.3686	10	0.48119	T	0.1	-22.1428	17.337	0.87285	0.0:1.0:0.0:0.0	.	423;359;337;523	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	S	359;539;420;523;423;337	ENSP00000353202:R359S;ENSP00000357155:R539S;ENSP00000376098:R420S;ENSP00000352138:R523S;ENSP00000389674:R423S;ENSP00000357154:R337S	ENSP00000352138:R523S	R	+	1	0	KIRREL	156329848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.272000	0.78516	2.692000	0.91855	0.491000	0.48974	CGC		0.602	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		3	92	1	0	1	1	1	3	92				
RBBP5	5929	broad.mit.edu	37	1	205072996	205072996	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:205072996C>T	ENST00000264515.6	-	5	652	c.511G>A	c.(511-513)Gca>Aca	p.A171T	RBBP5_ENST00000484379.1_5'Flank|RBBP5_ENST00000367164.1_Missense_Mutation_p.A171T	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	171					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTGCCTTTTGCGTTTCCCGTA	0.388																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(511-513)Gca>Aca		retinoblastoma binding protein 5							189.0	185.0	186.0					1																	205072996		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205072996C>T	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.511G>A	1.37:g.205072996C>T	ENSP00000264515:p.Ala171Thr					RBBP5_ENST00000367164.1_Missense_Mutation_p.A171T	p.A171T	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		5	652	-	Breast(84;0.0505)		171					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.511G>A	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715176	0.89112	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.23147	1.92;1.92	6.14	6.14	0.99180	WD40/YVTN repeat-like-containing domain (1);	0.091941	0.85682	D	0.000000	T	0.32102	0.0818	L	0.58302	1.8	0.80722	D	1	P;B;B;P	0.50617	0.937;0.098;0.116;0.494	B;B;B;B	0.42386	0.386;0.032;0.031;0.079	T	0.01570	-1.1322	10	0.30854	T	0.27	.	20.4548	0.99139	0.0:1.0:0.0:0.0	.	44;206;171;171	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	T	171	ENSP00000264515:A171T;ENSP00000356132:A171T	ENSP00000264515:A171T	A	-	1	0	RBBP5	203339619	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.368000	0.79567	2.937000	0.99478	0.650000	0.86243	GCA		0.388	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		4	153	0	0	0	1	0	4	153				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	41	1	0	0.004672	1	0.00563388	3	41				
ROBO4	54538	broad.mit.edu	37	11	124766108	124766108	+	Missense_Mutation	SNP	C	C	T	rs200599294		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:124766108C>T	ENST00000306534.3	-	4	1150	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R77Q	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	222	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R222Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GATGGAAACCCGGGCTGCGCG	0.607																																						ENST00000306534.3																			1	Substitution - Missense(1)	p.R222Q(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(664-666)cGg>cAg		roundabout, axon guidance receptor, homolog 4 (Drosophila)							73.0	74.0	74.0					11																	124766108		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124766108C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.665G>A	11.37:g.124766108C>T	ENSP00000304945:p.Arg222Gln					ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R77Q	p.R222Q	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	4	1150	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	222			Ig-like C2-type 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.665G>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659961	0.29515	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.39229	1.09;1.09	5.04	3.17	0.36434	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43110	D	0.000611	T	0.45736	0.1357	L	0.28649	0.875	0.18873	N	0.999982	D;P	0.69078	0.997;0.854	D;B	0.67103	0.949;0.141	T	0.20739	-1.0266	10	0.38643	T	0.18	.	8.8742	0.35334	0.0:0.8255:0.0:0.1745	.	112;222	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	Q	222;112;77	ENSP00000304945:R222Q;ENSP00000437129:R77Q	ENSP00000304945:R222Q	R	-	2	0	ROBO4	124271318	0.004000	0.15560	0.512000	0.27736	0.001000	0.01503	0.061000	0.14366	0.817000	0.34445	-0.142000	0.14014	CGG		0.607	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		3	73	0	0	0	1	0	3	73				
ARHGAP22	58504	broad.mit.edu	37	10	49654442	49654442	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr10:49654442G>T	ENST00000249601.4	-	10	2385	c.2089C>A	c.(2089-2091)Cca>Aca	p.P697T	ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P588T|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P703T|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.P530T|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P607T|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P713T|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.P538T	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	697					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.P697T(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTTACTTTGGGGCCCTGGCA	0.542																																						ENST00000249601.4																			1	Substitution - Missense(1)	p.P697T(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(2089-2091)Cca>Aca		Rho GTPase activating protein 22							108.0	99.0	102.0					10																	49654442		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49654442G>T	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.2089C>A	10.37:g.49654442G>T	ENSP00000249601:p.Pro697Thr					ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P607T|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.P530T|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P588T|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.P538T|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P703T|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P713T	p.P697T	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			10	2385	-			697					A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.2089C>A	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317235	0.40996	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.47869	2.11;1.87;0.83;1.04;1.73;2.05;2.18	4.16	4.16	0.48862	.	0.614826	0.14995	N	0.286489	T	0.50137	0.1598	M	0.65975	2.015	0.09310	N	1	P;B;B;B;B;B	0.52316	0.952;0.001;0.001;0.001;0.001;0.379	P;B;B;B;B;B	0.46585	0.521;0.001;0.004;0.001;0.004;0.063	T	0.47560	-0.9108	10	0.54805	T	0.06	.	9.493	0.38971	0.1046:0.0:0.8954:0.0	.	703;697;713;697;607;530	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	T	697;588;538;530;607;703;713	ENSP00000249601:P697T;ENSP00000363287:P588T;ENSP00000363285:P538T;ENSP00000422868:P530T;ENSP00000410054:P607T;ENSP00000416701:P703T;ENSP00000412461:P713T	ENSP00000249601:P697T	P	-	1	0	ARHGAP22	49324448	0.003000	0.15002	0.003000	0.11579	0.386000	0.30323	0.419000	0.21247	1.869000	0.54173	0.491000	0.48974	CCA		0.542	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		3	43	1	0	6.4e-05	1	8.74667e-05	3	43				
DPH2	1802	broad.mit.edu	37	1	44437269	44437269	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:44437269C>G	ENST00000255108.3	+	4	867	c.695C>G	c.(694-696)cCa>cGa	p.P232R	DPH2_ENST00000412950.2_Missense_Mutation_p.P97R|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	232					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GACCTTGACCCAGACCTGAGT	0.622																																						ENST00000255108.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19						c.(694-696)cCa>cGa		DPH2 homolog (S. cerevisiae)							69.0	72.0	71.0					1																	44437269		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437269C>G	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.695C>G	1.37:g.44437269C>G	ENSP00000255108:p.Pro232Arg					DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.P97R|DPH2_ENST00000529729.1_3'UTR	p.P232R	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN			4	867	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	232					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.695C>G	CCDS504.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449523	0.43531	.	.	ENSG00000132768	ENST00000255108;ENST00000412950	.	.	.	4.61	4.61	0.57282	.	0.183485	0.49305	D	0.000149	T	0.42585	0.1209	N	0.14661	0.345	0.36964	D	0.893492	D;D	0.71674	0.996;0.998	P;P	0.60789	0.862;0.879	T	0.43261	-0.9402	8	.	.	.	-12.1396	8.0092	0.30342	0.0:0.7753:0.0:0.2247	.	97;232	B4DNI8;Q9BQC3	.;DPH2_HUMAN	R	232;97	.	.	P	+	2	0	DPH2	44209856	1.000000	0.71417	0.804000	0.32291	0.662000	0.39071	2.479000	0.45197	2.381000	0.81170	0.552000	0.68991	CCA		0.622	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		4	141	0	0	0	1	0	4	141				
EIF5B	9669	broad.mit.edu	37	2	99985894	99985894	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr2:99985894T>C	ENST00000289371.6	+	8	1629	c.1427T>C	c.(1426-1428)aTg>aCg	p.M476T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	476					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.M476T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTAGAAGTTATGGAACAAGGA	0.353																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			1	Substitution - Missense(1)	p.M476T(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1426-1428)aTg>aCg		eukaryotic translation initiation factor 5B							107.0	104.0	105.0					2																	99985894		1843	4085	5928	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99985894T>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1427T>C	2.37:g.99985894T>C	ENSP00000289371:p.Met476Thr						p.M476T	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			8	1629	+			476					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.1427T>C	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	t	0.009	-1.845796	0.00568	.	.	ENSG00000158417	ENST00000289371	T	0.39592	1.07	5.77	0.217	0.15264	.	.	.	.	.	T	0.18002	0.0432	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27640	-1.0068	8	.	.	.	-1.0E-4	9.624	0.39739	0.0:0.322:0.0:0.678	.	476	O60841	IF2P_HUMAN	T	476	ENSP00000289371:M476T	.	M	+	2	0	EIF5B	99352326	0.197000	0.23362	0.003000	0.11579	0.062000	0.15995	0.614000	0.24314	0.119000	0.18210	-0.971000	0.02607	ATG		0.353	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		7	62	0	0	0	1	0	7	62				
RTBDN	83546	broad.mit.edu	37	19	12940772	12940772	+	Nonsense_Mutation	SNP	G	G	A	rs369791948		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr19:12940772G>A	ENST00000458671.2	-	2	174	c.22C>T	c.(22-24)Cga>Tga	p.R8*	RTBDN_ENST00000592204.1_Nonsense_Mutation_p.R18*|RTBDN_ENST00000589272.1_Nonsense_Mutation_p.R40*|RTBDN_ENST00000393233.2_5'UTR|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000322912.5_Nonsense_Mutation_p.R40*	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	8						extracellular region (GO:0005576)		p.R40*(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCGATGGGTCGCATGTGGACC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		20500	0.001		0.0	False		,,,				2504	0.0					ENST00000589272.1																			1	Substitution - Nonsense(1)	p.R40*(1)	prostate(1)	kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(118-120)Cga>Tga		retbindin		G	stop/ARG,stop/ARG	0,4406		0,0,2203	73.0	61.0	65.0		22,118	2.7	0.0	19		65	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	RTBDN	NM_001080997.1,NM_031429.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	8/230,40/262	12940772	1,13005	2203	4300	6503	SO:0001587	stop_gained	83546					extracellular region		g.chr19:12940772G>A	AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.22C>T	19.37:g.12940772G>A	ENSP00000416375:p.Arg8*					RTBDN_ENST00000458671.2_Nonsense_Mutation_p.R8*|RTBDN_ENST00000393233.2_5'UTR|RTBDN_ENST00000322912.5_Nonsense_Mutation_p.R40*|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Nonsense_Mutation_p.R18*	p.R40*			Q9BSG5	RTBDN_HUMAN			3	447	-			8					F1T0I8|Q9BWT5	Nonsense_Mutation	SNP	ENST00000458671.2	37	c.118C>T	CCDS45994.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631827	0.67015	0.0	1.16E-4	ENSG00000132026	ENST00000322912;ENST00000458671	.	.	.	3.74	2.66	0.31614	.	1.176700	0.06538	N	0.742766	.	.	.	.	.	.	0.20873	N	0.99984	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7918	8.4236	0.32716	0.0:0.0:0.767:0.233	.	.	.	.	X	40;8	.	ENSP00000326253:R40X	R	-	1	2	RTBDN	12801772	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.441000	0.21611	1.116000	0.41820	0.561000	0.74099	CGA		0.612	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451513.1	NM_031429		3	47	0	0	0	1	0	3	47				
RC3H2	54542	broad.mit.edu	37	9	125613481	125613481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:125613481T>C	ENST00000373670.1	-	19	3859	c.3259A>G	c.(3259-3261)Agt>Ggt	p.S1087G	RC3H2_ENST00000357244.2_Missense_Mutation_p.S1087G			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1087					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1087G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTTGAGAACTGATACCAAGC	0.363																																						ENST00000373670.1																			1	Substitution - Missense(1)	p.S1087G(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(3259-3261)Agt>Ggt		ring finger and CCCH-type domains 2							128.0	121.0	123.0					9																	125613481		1884	4113	5997	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125613481T>C	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3259A>G	9.37:g.125613481T>C	ENSP00000362774:p.Ser1087Gly					RC3H2_ENST00000357244.2_Missense_Mutation_p.S1087G	p.S1087G			Q9HBD1	RC3H2_HUMAN			19	3859	-			1087					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.3259A>G	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089469	0.55968	.	.	ENSG00000056586	ENST00000373670;ENST00000357244	T;T	0.46819	0.86;0.86	5.89	5.89	0.94794	.	0.256586	0.34484	N	0.003928	T	0.30854	0.0778	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.12451	-1.0547	10	0.72032	D	0.01	-18.9522	14.0568	0.64774	0.0:0.0:0.0:1.0	.	1087	Q9HBD1	RC3H2_HUMAN	G	1087	ENSP00000362774:S1087G;ENSP00000349783:S1087G	ENSP00000349783:S1087G	S	-	1	0	RC3H2	124653302	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.796000	0.47869	2.254000	0.74563	0.533000	0.62120	AGT		0.363	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		7	129	0	0	0	1	0	7	129				
FZD9	8326	broad.mit.edu	37	7	72849476	72849476	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:72849476C>T	ENST00000344575.3	+	1	1368	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	380					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A380V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCAAGGTGGCGGGTGATGAG	0.667																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			1	Substitution - Missense(1)	p.A380V(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(1138-1140)gCg>gTg		frizzled family receptor 9							45.0	43.0	44.0					7																	72849476		2203	4299	6502	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849476C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1139C>T	7.37:g.72849476C>T	ENSP00000345785:p.Ala380Val						p.A380V	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1368	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	380						Missense_Mutation	SNP	ENST00000344575.3	37	c.1139C>T	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011957	0.54468	.	.	ENSG00000188763	ENST00000344575	D	0.82255	-1.59	4.46	2.57	0.30868	GPCR, family 2-like (1);	0.218239	0.37136	U	0.002230	D	0.84701	0.5530	L	0.52573	1.65	0.36483	D	0.86798	D	0.60160	0.987	P	0.59703	0.862	D	0.85744	0.1339	10	0.72032	D	0.01	.	9.1047	0.36689	0.155:0.5446:0.3005:0.0	.	380	O00144	FZD9_HUMAN	V	380	ENSP00000345785:A380V	ENSP00000345785:A380V	A	+	2	0	FZD9	72487412	0.998000	0.40836	0.458000	0.27068	0.812000	0.45895	3.875000	0.56108	0.411000	0.25702	0.563000	0.77884	GCG		0.667	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			4	71	0	0	0	1	0	4	71				
CD248	57124	broad.mit.edu	37	11	66082756	66082756	+	Silent	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:66082756C>T	ENST00000311330.3	-	1	1759	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	581	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.Q581Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						TAATGGGAAGCTGGGTGGCCT	0.632																																						ENST00000311330.3																			1	Substitution - coding silent(1)	p.Q581Q(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1741-1743)caG>caA		CD248 molecule, endosialin	Cefalotin(DB00456)						127.0	140.0	135.0					11																	66082756		2200	4295	6495	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082756C>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1743G>A	11.37:g.66082756C>T						RP11-867G23.13_ENST00000534065.1_RNA	p.Q581Q	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	1759	-			581			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1743G>A	CCDS8134.1																																																																																				0.632	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		10	177	0	0	0	1	0	10	177				
SLC25A3	5250	broad.mit.edu	37	12	98993848	98993848	+	Missense_Mutation	SNP	C	C	A	rs370953752		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr12:98993848C>A	ENST00000228318.3	+	6	880	c.760C>A	c.(760-762)Cgc>Agc	p.R254S	SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Missense_Mutation_p.R253S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R253S|SLC25A3_ENST00000551917.1_Missense_Mutation_p.R254S|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.R253S	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	254					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.R254S(3)|p.R253S(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TCCTAAGCCCCGCAGTGAATG	0.428																																						ENST00000188376.5																			5	Substitution - Missense(5)	p.R254S(3)|p.R253S(2)	lung(3)|prostate(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(757-759)Cgc>Agc		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							139.0	116.0	124.0					12																	98993848		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98993848C>A		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.760C>A	12.37:g.98993848C>A	ENSP00000228318:p.Arg254Ser					SLC25A3_ENST00000228318.3_Missense_Mutation_p.R254S|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R253S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000551917.1_Missense_Mutation_p.R254S	p.R253S	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	5	1111	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	254					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.757C>A	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702955	0.68501	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.78246	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.16	5.49	2.35	0.29111	Mitochondrial carrier domain (2);	0.237399	0.43260	D	0.000586	T	0.76513	0.3998	L	0.52206	1.635	0.80722	D	1	B;B;B;B	0.32338	0.365;0.127;0.264;0.098	B;B;B;B	0.43478	0.421;0.079;0.079;0.15	T	0.76072	-0.3093	10	0.87932	D	0	-3.5357	9.9803	0.41809	0.3704:0.5068:0.1228:0.0	.	253;253;254;253	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	S	253;253;254;254;253;253;253	ENSP00000383898:R253S;ENSP00000188376:R253S;ENSP00000228318:R254S;ENSP00000447310:R254S;ENSP00000448708:R253S;ENSP00000447740:R253S;ENSP00000449166:R253S	ENSP00000188376:R253S	R	+	1	0	SLC25A3	97517979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.166000	0.42406	0.724000	0.32296	0.655000	0.94253	CGC		0.428	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		3	63	1	0	1	1	1	3	63				
FBXO10	26267	broad.mit.edu	37	9	37516001	37516001	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:37516001T>C	ENST00000432825.2	-	10	2644	c.2596A>G	c.(2596-2598)Atc>Gtc	p.I866V	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	866					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TGGAAGATGATGTTTTCCTGC	0.522																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2596-2598)Atc>Gtc		F-box protein 10							232.0	204.0	213.0					9																	37516001		1949	4149	6098	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37516001T>C	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2596A>G	9.37:g.37516001T>C	ENSP00000403802:p.Ile866Val					FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V|RP11-613M10.8_ENST00000544475.1_5'UTR	p.I866V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	10	2644	-			866					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2596A>G	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.051501	0.55218	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80214	-1.35;-1.35	5.64	3.1	0.35709	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.452007	0.24113	N	0.041438	T	0.65101	0.2659	N	0.14661	0.345	0.29340	N	0.866051	B;B;B	0.13594	0.008;0.003;0.003	B;B;B	0.19666	0.026;0.011;0.011	T	0.56956	-0.7893	10	0.29301	T	0.29	-17.1518	11.6666	0.51376	0.0:0.0:0.3859:0.6141	.	745;391;866	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	V	866;391	ENSP00000403802:I866V;ENSP00000441307:I391V	ENSP00000403802:I866V	I	-	1	0	FBXO10	37506001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.968000	0.40500	0.936000	0.37367	0.418000	0.28097	ATC		0.522	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			4	141	0	0	0	1	0	4	141				
RTL1	388015	broad.mit.edu	37	14	101348187	101348187	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr14:101348187T>C	ENST00000534062.1	-	1	2997	c.2939A>G	c.(2938-2940)gAc>gGc	p.D980G	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	980					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.D980G(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCCATGACGTCAAAGTTGAA	0.557																																						ENST00000534062.1																			1	Substitution - Missense(1)	p.D980G(1)	prostate(1)	breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(2938-2940)gAc>gGc		retrotransposon-like 1							77.0	79.0	78.0					14																	101348187		1568	3582	5150	SO:0001583	missense	388015							g.chr14:101348187T>C		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2939A>G	14.37:g.101348187T>C	ENSP00000435342:p.Asp980Gly						p.D980G	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	2997	-			980					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.2939A>G	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	T	5.435	0.265414	0.10294	.	.	ENSG00000254656	ENST00000534062	T	0.44482	0.92	3.39	2.26	0.28386	.	0.216865	0.23483	N	0.047684	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15321	-1.0441	10	0.09590	T	0.72	.	2.4884	0.04604	0.2354:0.1334:0.0:0.6312	.	980	E9PKS8	.	G	980	ENSP00000435342:D980G	ENSP00000435342:D980G	D	-	2	0	RTL1	100417940	0.009000	0.17119	0.050000	0.19076	0.521000	0.34408	1.240000	0.32731	0.702000	0.31825	0.454000	0.30748	GAC		0.557	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		3	101	0	0	0	1	0	3	101				
TOX3	27324	broad.mit.edu	37	16	52484402	52484402	+	Silent	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr16:52484402C>T	ENST00000219746.9	-	4	749	c.465G>A	c.(463-465)cgG>cgA	p.R155R	TOX3_ENST00000407228.3_Silent_p.R150R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	155					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.R155R(1)|p.R150R(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGACGATGGACCGCATGATCA	0.562																																						ENST00000219746.9																			2	Substitution - coding silent(2)	p.R155R(1)|p.R150R(1)	prostate(2)	NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(463-465)cgG>cgA		TOX high mobility group box family member 3							97.0	102.0	101.0					16																	52484402		2097	4218	6315	SO:0001819	synonymous_variant	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52484402C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.465G>A	16.37:g.52484402C>T						TOX3_ENST00000407228.3_Silent_p.R150R	p.R155R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			4	749	-			155					B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	c.465G>A	CCDS54009.1																																																																																				0.562	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		5	102	0	0	0	1	0	5	102				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	18	0	0	0	1	0	5	18				
SLC6A18	348932	broad.mit.edu	37	5	1239617	1239617	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr5:1239617T>C	ENST00000324642.3	+	6	908	c.785T>C	c.(784-786)tTc>tCc	p.F262S	SLC6A18_ENST00000296821.4_Missense_Mutation_p.F257S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	262					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCCAGATATTCTTCTCTCTG	0.572																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(784-786)tTc>tCc		solute carrier family 6 (neutral amino acid transporter), member 18							113.0	113.0	113.0					5																	1239617		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1239617T>C	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.785T>C	5.37:g.1239617T>C	ENSP00000323549:p.Phe262Ser					SLC6A18_ENST00000296821.4_Missense_Mutation_p.F257S	p.F262S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	908	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		262						Missense_Mutation	SNP	ENST00000324642.3	37	c.785T>C	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.588982	0.86851	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.81247	-1.47;-1.47	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	H	0.96604	3.85	0.50813	D	0.999892	D	0.89917	1.0	D	0.97110	1.0	D	0.94582	0.7780	10	0.87932	D	0	.	13.1311	0.59382	0.0:0.0:0.0:1.0	.	262	Q96N87	S6A18_HUMAN	S	262;257	ENSP00000323549:F262S;ENSP00000296821:F257S	ENSP00000296821:F257S	F	+	2	0	SLC6A18	1292617	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	7.450000	0.80656	1.588000	0.49971	0.454000	0.30748	TTC		0.572	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		3	150	0	0	0	1	0	3	150				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	35	0	0	0	1	0	3	35				
ZNF813	126017	broad.mit.edu	37	19	53993763	53993763	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr19:53993763G>C	ENST00000396403.4	+	4	405	c.277G>C	c.(277-279)Gat>Cat	p.D93H	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	93			D -> V (in dbSNP:rs12609217).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D93H(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AATTGATAAAGATATTCATAA	0.398																																						ENST00000396403.4																			1	Substitution - Missense(1)	p.D93H(1)	prostate(1)	large_intestine(1)	1						c.(277-279)Gat>Cat		zinc finger protein 813							90.0	96.0	94.0					19																	53993763		2196	4298	6494	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53993763G>C	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.277G>C	19.37:g.53993763G>C	ENSP00000379684:p.Asp93His					ZNF813_ENST00000396421.4_Intron	p.D93H	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	405	+			93		D -> V (in dbSNP:rs12609217).				Missense_Mutation	SNP	ENST00000396403.4	37	c.277G>C	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	G	3.477	-0.106616	0.06924	.	.	ENSG00000198346	ENST00000468450;ENST00000396403;ENST00000490956	T;T;T	0.05717	4.02;3.4;5.1	0.467	-0.714	0.11219	.	.	.	.	.	T	0.13586	0.0329	M	0.64404	1.975	0.09310	N	1	D	0.71674	0.998	D	0.69824	0.966	T	0.20009	-1.0288	9	0.29301	T	0.29	.	1.4425	0.02357	0.3159:0.0:0.3407:0.3434	.	93	Q6ZN06	ZN813_HUMAN	H	40;93;124	ENSP00000419821:D40H;ENSP00000379684:D93H;ENSP00000418289:D124H	ENSP00000379684:D93H	D	+	1	0	ZNF813	58685575	0.051000	0.20477	0.003000	0.11579	0.139000	0.21198	0.707000	0.25704	-0.397000	0.07691	0.205000	0.17691	GAT		0.398	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		11	145	0	0	0	1	0	11	145				
SLFNL1	200172	broad.mit.edu	37	1	41483497	41483497	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:41483497C>T	ENST00000359345.1	-	2	3343	c.767G>A	c.(766-768)gGc>gAc	p.G256D	SLFNL1_ENST00000397197.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000372611.1_Missense_Mutation_p.G197D|SLFNL1_ENST00000302946.8_Missense_Mutation_p.G256D|SLFNL1_ENST00000372613.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000439569.2_Missense_Mutation_p.G256D	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	256							ATP binding (GO:0005524)	p.G256D(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GAGCAGGCTGCCGCCCTCGCT	0.667																																						ENST00000359345.1																			1	Substitution - Missense(1)	p.G256D(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(766-768)gGc>gAc		schlafen-like 1							49.0	47.0	48.0					1																	41483497		2203	4300	6503	SO:0001583	missense	200172						ATP binding	g.chr1:41483497C>T	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.767G>A	1.37:g.41483497C>T	ENSP00000352299:p.Gly256Asp					SLFNL1_ENST00000372611.1_Missense_Mutation_p.G197D|SLFNL1_ENST00000397197.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000372613.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000439569.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000302946.8_Missense_Mutation_p.G256D	p.G256D	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN			2	3343	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	256					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	37	c.767G>A	CCDS460.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588338	0.66105	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000005	D	0.88164	0.6363	H	0.94658	3.565	0.44417	D	0.997336	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.99;0.997	D	0.91063	0.4887	10	0.87932	D	0	-43.0178	14.7245	0.69332	0.0:1.0:0.0:0.0	.	256;197;256	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	D	256;256;197;256;256;256	ENSP00000304401:G256D;ENSP00000361696:G256D;ENSP00000361694:G197D;ENSP00000352299:G256D;ENSP00000398938:G256D;ENSP00000380381:G256D	ENSP00000304401:G256D	G	-	2	0	SLFNL1	41256084	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	5.271000	0.65553	2.539000	0.85634	0.561000	0.74099	GGC		0.667	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		3	50	0	0	0	1	0	3	50				
TUBGCP4	27229	broad.mit.edu	37	15	43663575	43663575	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr15:43663575C>A	ENST00000260383.7	+	1	277	c.23C>A	c.(22-24)gCt>gAt	p.A8D	TUBGCP4_ENST00000570081.1_Intron|ZSCAN29_ENST00000396976.2_5'Flank|ZSCAN29_ENST00000396972.1_5'Flank|ZSCAN29_ENST00000563508.1_5'Flank|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.A8D|ZSCAN29_ENST00000568898.1_5'Flank|ZSCAN29_ENST00000562072.1_5'Flank			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	8					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)	p.A8D(2)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CTGCTCTTGGCTCTGAGCGGG	0.652											OREG0023087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000564079.1																			2	Substitution - Missense(2)	p.A8D(2)	upper_aerodigestive_tract(1)|prostate(1)	breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(22-24)gCt>gAt		tubulin, gamma complex associated protein 4							46.0	55.0	52.0					15																	43663575		2009	4174	6183	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43663575C>A	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.23C>A	15.37:g.43663575C>A	ENSP00000260383:p.Ala8Asp		OREG0023087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	918	TUBGCP4_ENST00000570081.1_Intron|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.A8D	p.A8D	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	1	263	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	8					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.23C>A		.	.	.	.	.	.	.	.	.	.	C	31	5.073024	0.93950	.	.	ENSG00000137822	ENST00000260383	T	0.10668	2.85	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	L	0.61218	1.895	0.80722	D	1	D;D	0.65815	0.995;0.994	D;P	0.65010	0.931;0.828	T	0.00787	-1.1566	10	0.87932	D	0	-14.0281	17.287	0.87145	0.0:1.0:0.0:0.0	.	8;8	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	D	8	ENSP00000260383:A8D	ENSP00000260383:A8D	A	+	2	0	TUBGCP4	41450867	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	6.597000	0.74118	2.740000	0.93945	0.313000	0.20887	GCT		0.652	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		5	21	1	0	0.014758	1	0.0168077	5	21				
SYT11	23208	broad.mit.edu	37	1	155838359	155838359	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:155838359G>C	ENST00000368324.4	+	2	891	c.638G>C	c.(637-639)aGa>aCa	p.R213T	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	213	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.R213T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTGAAGACCAGAGTGCTGCGG	0.572																																						ENST00000368324.4																			1	Substitution - Missense(1)	p.R213T(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(637-639)aGa>aCa		synaptotagmin XI							106.0	90.0	96.0					1																	155838359		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838359G>C	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.638G>C	1.37:g.155838359G>C	ENSP00000357307:p.Arg213Thr					SYT11_ENST00000539162.1_Intron	p.R213T	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	891	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		213			C2 1.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.638G>C	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106386	0.94292	.	.	ENSG00000132718	ENST00000368324	T	0.71579	-0.58	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.81551	-0.0881	10	0.87932	D	0	.	20.0189	0.97489	0.0:0.0:1.0:0.0	.	213	Q9BT88	SYT11_HUMAN	T	213	ENSP00000357307:R213T	ENSP00000357307:R213T	R	+	2	0	SYT11	154104983	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.835000	0.99442	2.828000	0.97474	0.655000	0.94253	AGA		0.572	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		3	76	0	0	0	1	0	3	76				
DKC1	1736	broad.mit.edu	37	X	153994551	153994551	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chrX:153994551G>C	ENST00000369550.5	+	5	534	c.324G>C	c.(322-324)tgG>tgC	p.W108C	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	108					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)	p.W108C(2)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGTAGCCTGGATTCGACGGA	0.478									Congenital Dyskeratosis																													ENST00000369550.5																			2	Substitution - Missense(2)	p.W108C(2)	prostate(2)	breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(322-324)tgG>tgC		dyskeratosis congenita 1, dyskerin							111.0	104.0	106.0					X																	153994551		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994551G>C	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.324G>C	X.37:g.153994551G>C	ENSP00000358563:p.Trp108Cys						p.W108C	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			5	534	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		108					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.324G>C	CCDS14761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.53|19.53	3.844944|3.844944	0.71603|0.71603	.|.	.|.	ENSG00000130826|ENSG00000130826	ENST00000437719|ENST00000369550;ENST00000413910	.|D;D	.|0.88818	.|-2.43;-2.43	5.81|5.81	4.93|4.93	0.64822|0.64822	.|Pseudouridine synthase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96402|0.96402	0.8826|0.8826	H|H	0.97315|0.97315	3.98|3.98	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.977;0.994	D|D	0.97225|0.97225	0.9880|0.9880	5|10	.|0.87932	.|D	.|0	-14.4226|-14.4226	13.9035|13.9035	0.63819|0.63819	0.0:0.0:0.8465:0.1535|0.0:0.0:0.8465:0.1535	.|.	.|108;108	.|A8MUT5;O60832	.|.;DKC1_HUMAN	H|C	94|108	.|ENSP00000358563:W108C;ENSP00000400542:W108C	.|ENSP00000358563:W108C	D|W	+|+	1|3	0|0	DKC1|DKC1	153647745|153647745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.309000|9.309000	0.96252|0.96252	1.184000|1.184000	0.42957|0.42957	0.513000|0.513000	0.50165|0.50165	GAT|TGG		0.478	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		5	59	0	0	0	1	0	5	59				
SLFN11	91607	broad.mit.edu	37	17	33690215	33690215	+	Silent	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:33690215G>T	ENST00000394566.1	-	4	884	c.612C>A	c.(610-612)atC>atA	p.I204I	SLFN11_ENST00000308377.4_Silent_p.I204I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	204					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.I204I(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAAAGGCAGGATTTCACCAT	0.413																																						ENST00000394566.1																			2	Substitution - coding silent(2)	p.I204I(2)	prostate(1)|lung(1)	autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(610-612)atC>atA		schlafen family member 11							123.0	126.0	125.0					17																	33690215		2203	4300	6503	SO:0001819	synonymous_variant	91607					nucleus	ATP binding	g.chr17:33690215G>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.612C>A	17.37:g.33690215G>T						SLFN11_ENST00000308377.4_Silent_p.I204I	p.I204I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	884	-		Ovarian(249;0.17)	204					E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	c.612C>A	CCDS11294.1																																																																																				0.413	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		7	171	1	0	0.00198382	1	0.00246474	7	171				
OR13C2	392376	broad.mit.edu	37	9	107367082	107367082	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:107367082G>A	ENST00000542196.1	-	1	869	c.827C>T	c.(826-828)aCc>aTc	p.T276I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T276I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTTTGTCGGTAGCATCCAA	0.408																																						ENST00000542196.1																			1	Substitution - Missense(1)	p.T276I(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(826-828)aCc>aTc		olfactory receptor, family 13, subfamily C, member 2							162.0	148.0	153.0					9																	107367082		2201	4300	6501	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367082G>A		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.827C>T	9.37:g.107367082G>A	ENSP00000438815:p.Thr276Ile						p.T276I	NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN			1	869	-			276					B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.827C>T	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.065063	0.00382	.	.	ENSG00000257019	ENST00000542196	T	0.00058	8.79	3.41	1.43	0.22495	GPCR, rhodopsin-like superfamily (1);	0.521289	0.14243	U	0.331949	T	0.00073	0.0002	N	0.05487	-0.04	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.03112	-1.1071	10	0.23891	T	0.37	.	3.5409	0.07811	0.1332:0.0:0.4257:0.4411	.	276	Q8NGS9	O13C2_HUMAN	I	276	ENSP00000438815:T276I	ENSP00000438815:T276I	T	-	2	0	OR13C2	106406903	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	0.115000	0.15540	0.123000	0.18342	0.313000	0.20887	ACC		0.408	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		8	154	0	0	0	1	0	8	154				
EPN2	22905	broad.mit.edu	37	17	19235303	19235303	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:19235303G>A	ENST00000314728.5	+	10	2033	c.1549G>A	c.(1549-1551)Gcg>Acg	p.A517T	EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|RP11-135L13.4_ENST00000581122.1_RNA|EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T|EPN2_ENST00000395626.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	517	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.A517T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GGGCCCCAACGCGGCCCTGGT	0.627																																						ENST00000314728.5																			1	Substitution - Missense(1)	p.A517T(1)	prostate(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1549-1551)Gcg>Acg		epsin 2							93.0	88.0	90.0					17																	19235303		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19235303G>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1549G>A	17.37:g.19235303G>A	ENSP00000320543:p.Ala517Thr					EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T	p.A517T	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			10	2033	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		517			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.1549G>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193375	0.78902	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.7	4.7	0.59300	.	0.211012	0.48767	D	0.000168	T	0.70037	0.3178	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.995;0.975;0.999;0.999;0.995;0.998	T	0.76639	-0.2885	10	0.62326	D	0.03	-21.5308	17.9955	0.89182	0.0:0.0:1.0:0.0	.	460;453;225;232;460;517	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	T	460;232;517;460;460	ENSP00000261495:A460T;ENSP00000378980:A232T;ENSP00000320543:A517T;ENSP00000378982:A460T	ENSP00000320543:A517T	A	+	1	0	EPN2	19175896	1.000000	0.71417	0.899000	0.35326	0.216000	0.24613	9.358000	0.97109	2.290000	0.77057	0.462000	0.41574	GCG		0.627	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		4	134	0	0	0	1	0	4	134				
ACAT1	38	broad.mit.edu	37	11	108002646	108002646	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:108002646G>T	ENST00000265838.4	+	2	176	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	ACAT1_ENST00000526119.1_3'UTR|ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	29					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)	p.V29L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AATAAGATATGTGGAACGGAG	0.229																																						ENST00000265838.4																			1	Substitution - Missense(1)	p.V29L(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10						c.(85-87)Gtg>Ttg		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						31.0	36.0	34.0					11																	108002646		2166	4255	6421	SO:0001583	missense	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108002646G>T	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.85G>T	11.37:g.108002646G>T	ENSP00000265838:p.Val29Leu					ACAT1_ENST00000526119.1_3'UTR|ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L	p.V29L	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	2	176	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	29					B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	c.85G>T	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321030	0.23994	.	.	ENSG00000075239	ENST00000265838;ENST00000299355	D;D	0.92858	-3.01;-3.12	4.96	-2.98	0.05513	.	1.072560	0.07065	N	0.834369	T	0.78811	0.4342	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.65861	-0.6065	10	0.09338	T	0.73	-0.4046	7.199	0.25871	0.5715:0.1325:0.296:0.0	.	29;29	P24752;G3XAB4	THIL_HUMAN;.	L	29	ENSP00000265838:V29L;ENSP00000299355:V29L	ENSP00000265838:V29L	V	+	1	0	ACAT1	107507856	0.000000	0.05858	0.001000	0.08648	0.864000	0.49448	-0.827000	0.04424	-0.721000	0.04929	0.467000	0.42956	GTG		0.229	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		3	55	1	0	1	1	1	3	55				
PCLO	27445	broad.mit.edu	37	7	82474612	82474612	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:82474612C>T	ENST00000333891.9	-	13	14358	c.14021G>A	c.(14020-14022)aGc>aAc	p.S4674N	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.S4674N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S4674N(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTTTTTGCTCACTGAGGG	0.468																																						ENST00000423517.2																			2	Substitution - Missense(2)	p.S4674N(2)	prostate(2)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(14020-14022)aGc>aAc		piccolo presynaptic cytomatrix protein							50.0	51.0	51.0					7																	82474612		2010	4180	6190	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474612C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14021G>A	7.37:g.82474612C>T	ENSP00000334319:p.Ser4674Asn					PCLO_ENST00000333891.8_Missense_Mutation_p.S4674N|PCLO_ENST00000426442.2_5'UTR	p.S4674N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			13	14358	-			4562						Missense_Mutation	SNP	ENST00000333891.9	37	c.14021G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338106	0.41398	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.17854	2.26;2.25	5.53	3.73	0.42828	.	.	.	.	.	T	0.19127	0.0459	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.17038	0.02;0.02;0.004;0.012	B;B;B;B	0.19946	0.027;0.027;0.009;0.006	T	0.03060	-1.1077	9	0.87932	D	0	.	12.1834	0.54223	0.0:0.8611:0.0:0.1389	.	4674;4674;104;171	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	N	4674;4674;170	ENSP00000334319:S4674N;ENSP00000388393:S4674N	ENSP00000334319:S4674N	S	-	2	0	PCLO	82312548	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.723000	0.47277	0.815000	0.34398	0.561000	0.74099	AGC		0.468	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		3	29	0	0	0	1	0	3	29				
KCNG1	3755	broad.mit.edu	37	20	49620863	49620863	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr20:49620863C>A	ENST00000371571.4	-	3	1540	c.1255G>T	c.(1255-1257)Gtc>Ttc	p.V419F	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	419					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.V419F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATGGTGATGACAGCCCACCAG	0.647																																						ENST00000371571.4																			1	Substitution - Missense(1)	p.V419F(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1255-1257)Gtc>Ttc		potassium voltage-gated channel, subfamily G, member 1							79.0	69.0	72.0					20																	49620863		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620863C>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1255G>T	20.37:g.49620863C>A	ENSP00000360626:p.Val419Phe					RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	p.V419F	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			3	1540	-			419					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1255G>T	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035602	0.75617	.	.	ENSG00000026559	ENST00000371571	D	0.97186	-4.28	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	L	0.58583	1.82	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.97859	1.0279	9	.	.	.	.	19.3567	0.94418	0.0:1.0:0.0:0.0	.	419	Q9UIX4	KCNG1_HUMAN	F	419	ENSP00000360626:V419F	.	V	-	1	0	KCNG1	49054270	1.000000	0.71417	0.963000	0.40424	0.845000	0.48019	4.920000	0.63390	2.578000	0.87016	0.462000	0.41574	GTC		0.647	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		5	81	1	0	0.014758	1	0.0168077	5	81				
LOC100129620	100129620	broad.mit.edu	37	1	99474094	99474094	+	RNA	DEL	A	A	-	rs531849287|rs57656522	byFrequency	TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:99474094delA	ENST00000425113.1	+	0	370					NR_033940.1																						AACAGCAACTAAAAAAAAAAA	0.353													|||unknown(HR)	1745	0.348442	0.32	0.3112	5008	,	,		17655	0.4415		0.3608	False		,,,				2504	0.3047					ENST00000425113.1																			0																																																			0							g.chr1:99474094delA																													1.37:g.99474094delA								NR_033940.1						0	370	+									RNA	DEL	ENST00000425113.1	37																																																																																						0.353	RP5-896L10.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000029675.2			3	4						3	4	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		6	8						6	8	---	---	---	---
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																						ENST00000319264.3																			3	Insertion - In frame(2)|Deletion - In frame(1)	p.G49_G50insGGG(2)|p.G50_G52delGGG(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)								c.(145-150)gggcgg>ggGGCGGCGGCgcgg		leucine rich adaptor protein 1-like																																				SO:0001652	inframe_insertion	286343							g.chr9:12775861_12775862insGGCGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup					RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	p.49_50GR>GAAAR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			1	842_843	+			49		Missing.	Gly-rich.		Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	c.147_148insGGCGGCGGC	CCDS6473.1																																																																																				0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		5	7						5	7	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20920813	20920814	+	In_Frame_Ins	INS	-	-	CAG	rs67182670|rs361923|rs535773989|rs539945336	byFrequency	TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr22:20920813_20920814insCAG	ENST00000263205.7	+	7	819_820	c.750_751insCAG	c.(751-753)cag>CAGcag	p.251_251Q>QQ	MED15_ENST00000425759.2_In_Frame_Ins_p.140_140Q>QQ|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_In_Frame_Ins_p.225_225Q>QQ|MED15_ENST00000292733.7_In_Frame_Ins_p.251_251Q>QQ|MED15_ENST00000542773.1_In_Frame_Ins_p.56_56Q>QQ|MED15_ENST00000382974.2_In_Frame_Ins_p.180_180Q>QQ|MED15_ENST00000406969.1_In_Frame_Ins_p.225_225Q>QQ	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	251	Poly-Gln.			Missing (in Ref. 3; BAB85034). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			aacaacagcaacagcagcagca	0.589																																						ENST00000263205.7																			4	Insertion - In frame(4)	p.Q250_Q251insQ(4)	ovary(2)|large_intestine(2)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(748-753)caagca>caCAGagca		mediator complex subunit 15																																				SO:0001652	inframe_insertion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20920813_20920814insCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.784_786dupCAG	22.37:g.20920820_20920822dupCAG	ENSP00000263205:p.Gln262dup					MED15_ENST00000292733.7_In_Frame_Ins_p.250_250Q>HR|MED15_ENST00000425759.2_In_Frame_Ins_p.139_139Q>HR|MED15_ENST00000406969.1_In_Frame_Ins_p.224_224Q>HR|MED15_ENST00000382974.2_In_Frame_Ins_p.179_179Q>HR|MED15_ENST00000541476.1_In_Frame_Ins_p.224_224Q>HR|MED15_ENST00000542773.1_In_Frame_Ins_p.55_55Q>HR|MED15_ENST00000478831.1_3'UTR	p.250_250Q>HR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		7	819_820	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	250	Missing (in Ref. 3; BAB85034).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Ins	INS	ENST00000263205.7	37	c.750_751insCAG	CCDS33602.1																																																																																				0.589	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		12	32						12	32	---	---	---	---
