#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
NUP93	9688	broad.mit.edu	37	16	56782199	56782199	+	Missense_Mutation	SNP	G	G	A	rs528073782		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:56782199G>A	ENST00000308159.5	+	2	161	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	NUP93_ENST00000569842.1_Missense_Mutation_p.E14K	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	14					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.E14K(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCAGCAAGCTGAACAGCTTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	uc002eka.3																			3	Substitution - Missense(3)	p.E14K(6)|p.A13A(1)	breast(2)|upper_aerodigestive_tract(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(40-42)Gaa>Aaa		Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.							67.0	65.0	66.0					16																	56782199		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782199G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.40G>A	16.37:g.56782199G>A	ENSP00000310668:p.Glu14Lys		Somatic					p.E14K	NM_014669	NP_001229725	WXS	Illumina GAIIx	Phase_I	Q8N1F7	NUP93_HUMAN			1	161	+			14					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.40G>A	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428130	0.83667	.	.	ENSG00000102900	ENST00000308159	T	0.44083	0.93	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	L	0.39898	1.24	0.80722	D	1	B	0.15473	0.013	B	0.15484	0.013	T	0.22208	-1.0223	10	0.12103	T	0.63	-21.6196	20.8598	0.99761	0.0:0.0:1.0:0.0	.	14	Q8N1F7	NUP93_HUMAN	K	14	ENSP00000310668:E14K	ENSP00000310668:E14K	E	+	1	0	NUP93	55339700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.685000	0.98661	2.937000	0.99478	0.650000	0.86243	GAA		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		6	74	0	0	0	1	0	6	74				
OPN4	94233	broad.mit.edu	37	10	88419672	88419672	+	Missense_Mutation	SNP	C	C	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:88419672C>A	ENST00000241891.5	+	6	988	c.821C>A	c.(820-822)gCc>gAc	p.A274D	OPN4_ENST00000372071.2_Missense_Mutation_p.A285D	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	274					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						ACCTTCGGGGCCTGCAAGGGC	0.637																																						uc010qmk.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(853-855)gCc>gAc		Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.							100.0	75.0	84.0					10																	88419672		2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88419672C>A	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.821C>A	10.37:g.88419672C>A	ENSP00000241891:p.Ala274Asp		Somatic				OPN4_uc001kdp.3_Missense_Mutation_p.A285D|OPN4_uc001kdq.3_Missense_Mutation_p.A274D|OPN4_uc009xsx.1_5'Flank	p.A285D	NM_001030015	NP_001025186	WXS	Illumina GAIIx	Phase_I	Q9UHM6	OPN4_HUMAN			6	1081	+			274					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.854C>A	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193691	0.38707	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.71934	-0.61;-0.61;-0.61	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	1.783920	0.02624	N	0.103535	T	0.78947	0.4364	M	0.84511	2.7	0.09310	N	0.999996	B;P;P	0.39862	0.27;0.475;0.692	B;B;B	0.39840	0.216;0.158;0.311	T	0.66626	-0.5876	10	0.48119	T	0.1	.	13.0628	0.59015	0.0:0.8243:0.1757:0.0	.	285;274;285	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	D	285;274;285	ENSP00000361141:A285D;ENSP00000241891:A274D;ENSP00000393132:A285D	ENSP00000241891:A274D	A	+	2	0	OPN4	88409652	0.946000	0.32159	0.999000	0.59377	0.692000	0.40212	1.363000	0.34159	2.378000	0.81104	0.650000	0.86243	GCC		0.637	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		5	61	0	0	0	1	0	5	61				
FER1L6	654463	broad.mit.edu	37	8	125072866	125072866	+	Silent	SNP	C	C	T	rs369624500		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr8:125072866C>T	ENST00000522917.1	+	24	3269	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.C1021C|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1021						integral component of membrane (GO:0016021)		p.C1021C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTGAGTGCGGAGGACAAG	0.547																																						uc003yqw.3																			1	Substitution - coding silent(1)	p.C1021C(2)	kidney(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3061-3063)tgC>tgT		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							144.0	126.0	132.0					8																	125072866		2203	4300	6503	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125072866C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3063C>T	8.37:g.125072866C>T			Somatic				AK057332_uc003yqy.1_Non-coding_Transcript	p.C1021C	NM_001039112	NP_001034201	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		23	3269	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1021						Silent	SNP	ENST00000522917.1	37	c.3063C>T	CCDS43767.1																																																																																				0.547	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		26	56	0	0	0	1	0	26	56				
PELO	53918	broad.mit.edu	37	5	52097426	52097426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:52097426G>T	ENST00000274311.2	+	3	1895	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	304					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GAAGGCCAATGAAGCCATGGC	0.502																																						uc003jos.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(910-912)Gaa>Taa		Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.							97.0	84.0	88.0					5																	52097426		2203	4300	6503	SO:0001587	stop_gained	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52097426G>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.910G>T	5.37:g.52097426G>T	ENSP00000274311:p.Glu304*		Somatic				ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	p.E304*	NM_015946	NP_057030	WXS	Illumina GAIIx	Phase_I	Q9BRX2	PELO_HUMAN			2	1895	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	304					Q9GZS6|Q9Y306	Nonsense_Mutation	SNP	ENST00000274311.2	37	c.910G>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	G	46	12.150867	0.99640	.	.	ENSG00000152684	ENST00000274311	.	.	.	5.91	5.91	0.95273	.	0.063718	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.5117	19.9	0.96981	0.0:0.0:1.0:0.0	.	.	.	.	X	304	.	ENSP00000274311:E304X	E	+	1	0	PELO	52133183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.609000	0.90898	2.794000	0.96219	0.655000	0.94253	GAA		0.502	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		20	48	0	0	0	1	0	20	48				
FRMD4A	55691	broad.mit.edu	37	10	13708199	13708199	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:13708199G>A	ENST00000357447.2	-	18	1869	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L	FRMD4A_ENST00000378503.1_Silent_p.L501L|FRMD4A_ENST00000358621.4_Silent_p.L486L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	501					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGTGCATTCAGATACGAGGTT	0.493																																						uc001ims.3																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1501-1503)Ctg>Ttg		Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.							129.0	128.0	128.0					10																	13708199		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13708199G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1501C>T	10.37:g.13708199G>A			Somatic				FRMD4A_uc009xjf.1_Silent_p.L501L|FRMD4A_uc001imt.1_Silent_p.L534L	p.L501L	NM_018027	NP_060497	WXS	Illumina GAIIx	Phase_I	Q9P2Q2	FRM4A_HUMAN			17	1853	-			501					A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.1501C>T	CCDS7101.1																																																																																				0.493	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		27	87	0	0	0	1	0	27	87				
DDX58	23586	broad.mit.edu	37	9	32457322	32457322	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:32457322C>T	ENST00000379883.2	-	18	2733	c.2576G>A	c.(2575-2577)aGa>aAa	p.R859K	DDX58_ENST00000379882.1_Missense_Mutation_p.R814K|DDX58_ENST00000542096.1_Missense_Mutation_p.R788K|DDX58_ENST00000379868.1_Missense_Mutation_p.R656K	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	859	Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TATCTTTGCTCTTTTTTCAAA	0.398																																						uc003zra.3																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2575-2577)aGa>aAa		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.							107.0	100.0	103.0					9																	32457322		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32457322C>T	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2576G>A	9.37:g.32457322C>T	ENSP00000369213:p.Arg859Lys		Somatic				DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mji.3_Missense_Mutation_p.R788K	p.R859K	NM_014314	NP_055129	WXS	Illumina GAIIx	Phase_I	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	17	2734	-			859			Repressor domain.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.2576G>A	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	1.598	-0.527269	0.04141	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.83	-9.58	0.00559	C-terminal domain of RIG-I (1);	0.768164	0.12221	N	0.488323	T	0.09158	0.0226	N	0.02315	-0.6	0.53005	D	0.999965	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34750	-0.9816	10	0.02654	T	1	-3.0156	4.2485	0.10682	0.2809:0.4701:0.0905:0.1585	.	788;859	B3KWW1;O95786	.;DDX58_HUMAN	K	814;859;656;788	ENSP00000369212:R814K;ENSP00000369213:R859K;ENSP00000369197:R656K;ENSP00000442160:R788K	ENSP00000369197:R656K	R	-	2	0	DDX58	32447322	0.000000	0.05858	0.945000	0.38365	0.247000	0.25773	-2.632000	0.00870	-0.797000	0.04450	0.650000	0.86243	AGA		0.398	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		10	54	0	0	0	1	0	10	54				
C16orf62	57020	broad.mit.edu	37	16	19711771	19711771	+	Silent	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:19711771C>T	ENST00000251143.5	+	31	2877	c.2865C>T	c.(2863-2865)ctC>ctT	p.L955L	C16orf62_ENST00000448695.1_Silent_p.L805L|C16orf62_ENST00000438132.3_Silent_p.L1044L|C16orf62_ENST00000543152.1_Silent_p.L704L|C16orf62_ENST00000417362.2_Silent_p.L862L|C16orf62_ENST00000542263.1_Silent_p.L951L			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	955						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGCTGGCCCTCAGACTCCCTC	0.522																																						uc002dgn.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2863-2865)ctC>ctT		Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.							88.0	88.0	88.0					16																	19711771		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19711771C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2865C>T	16.37:g.19711771C>T			Somatic				C16orf62_uc002dgo.2_Silent_p.L951L|C16orf62_uc002dgp.2_Silent_p.L704L	p.L955L	NM_020314	NP_064710	WXS	Illumina GAIIx	Phase_I	Q7Z3J2	CP062_HUMAN			30	3180	+			955					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.2865C>T																																																																																					0.522	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		20	35	0	0	0	1	0	20	35				
SNIP1	79753	broad.mit.edu	37	1	38022591	38022591	+	5'Flank	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:38022591C>T	ENST00000296215.6	-	0	0				SNIP1_ENST00000468040.1_5'Flank|DNALI1_ENST00000296218.7_Missense_Mutation_p.S21F|DNALI1_ENST00000541606.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				ACTCTCGCCTCCGCCATGATT	0.637																																						uc001cbj.3																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(61-63)tCc>tTc		Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.							67.0	61.0	63.0					1																	38022591		2203	4300	6503	SO:0001631	upstream_gene_variant	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38022591C>T		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225		1.37:g.38022591C>T	Exception_encountered		Somatic				SNIP1_uc010oid.2_5'Flank|SNIP1_uc001cbi.3_5'Flank|DNALI1_uc010oie.2_Non-coding_Transcript	p.S21F	NM_003462	NP_003453	WXS	Illumina GAIIx	Phase_I	O14645	IDLC_HUMAN			0	72	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	0					Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.62C>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812216	0.32053	.	.	ENSG00000163879	ENST00000296218	T	0.45276	0.9	5.07	-0.509	0.11977	.	0.985526	0.08258	N	0.973513	T	0.42154	0.1190	.	.	.	0.34660	D	0.722627	.	.	.	.	.	.	T	0.54463	-0.8290	7	0.59425	D	0.04	-0.4939	5.1608	0.15060	0.0:0.4733:0.2797:0.2469	.	.	.	.	F	21	ENSP00000296218:S21F	ENSP00000296218:S21F	S	+	2	0	DNALI1	37795178	0.401000	0.25303	0.096000	0.21009	0.039000	0.13416	0.195000	0.17155	0.012000	0.14892	0.491000	0.48974	TCC		0.637	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		6	58	0	0	0	1	0	6	58				
ZFC3H1	196441	broad.mit.edu	37	12	72057031	72057031	+	Silent	SNP	A	A	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:72057031A>C	ENST00000378743.3	-	1	718	c.360T>G	c.(358-360)ccT>ccG	p.P120P	ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_Silent_p.P120P|ZFC3H1_ENST00000548100.1_Silent_p.P120P|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	120	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTGAGCTCGAAGGCATCCGTA	0.657																																						uc001swo.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(358-360)ccT>ccG		Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.							66.0	73.0	71.0					12																	72057031		1965	4141	6106	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057031A>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.360T>G	12.37:g.72057031A>C			Somatic				ZFC3H1_uc010sts.2_Silent_p.P120P|ZFC3H1_uc001swp.3_Silent_p.P120P|THAP2_uc001swq.3_5'Flank	p.P120P	NM_144982	NP_659419	WXS	Illumina GAIIx	Phase_I	O60293	ZC3H1_HUMAN			0	719	-			120			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.360T>G	CCDS41813.1																																																																																				0.657	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		57	95	0	0	0	1	0	57	95				
LRPPRC	10128	broad.mit.edu	37	2	44174896	44174896	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:44174896C>G	ENST00000260665.7	-	19	1996	c.1939G>C	c.(1939-1941)Gag>Cag	p.E647Q		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	647					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCTTACTCTCAACCAACAAG	0.294																																						uc002rtr.2																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(1939-1941)Gag>Cag		Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.							63.0	64.0	64.0					2																	44174896		2203	4288	6491	SO:0001583	missense	10128				mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding	g.chr2:44174896C>G	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1939G>C	2.37:g.44174896C>G	ENSP00000260665:p.Glu647Gln		Somatic				LRPPRC_uc010yob.1_Missense_Mutation_p.E547Q	p.E647Q	NM_133259	NP_573566	WXS	Illumina GAIIx	Phase_I	P42704	LPPRC_HUMAN			18	1997	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	647					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.1939G>C	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	5.951	0.359495	0.11239	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56103	0.48	5.38	4.51	0.55191	.	1.061880	0.07303	N	0.874429	T	0.41811	0.1175	L	0.36672	1.1	0.58432	D	0.999999	B;B	0.27559	0.045;0.181	B;B	0.28638	0.007;0.092	T	0.19679	-1.0298	10	0.19147	T	0.46	-8.638	6.0762	0.19917	0.0:0.6771:0.1564:0.1665	.	547;647	F5H4J6;P42704	.;LPPRC_HUMAN	Q	547;647	ENSP00000260665:E647Q	ENSP00000260665:E647Q	E	-	1	0	LRPPRC	44028400	0.103000	0.21917	0.895000	0.35142	0.008000	0.06430	0.342000	0.19926	1.415000	0.47037	0.655000	0.94253	GAG		0.294	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		4	19	0	0	0	1	0	4	19				
TMEM2	23670	broad.mit.edu	37	9	74360334	74360334	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:74360334C>T	ENST00000377044.4	-	4	1173	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	TMEM2_ENST00000377066.5_Missense_Mutation_p.E212K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	212	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGCATACTTTCACCTTCATCT	0.483																																						uc011lsa.1																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(634-636)Gaa>Aaa		Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.							141.0	128.0	132.0					9																	74360334		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74360334C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.634G>A	9.37:g.74360334C>T	ENSP00000366243:p.Glu212Lys		Somatic				TMEM2_uc010mos.2_Missense_Mutation_p.E212K|TMEM2_uc011lsb.1_Non-coding_Transcript	p.E212K	NM_013390	NP_037522	WXS	Illumina GAIIx	Phase_I	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	3	1174	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	212			G8.		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.634G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229506	0.39399	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.89617	-2.54;-2.54	6.03	5.12	0.69794	G8 domain (2);	0.288679	0.42682	D	0.000674	T	0.81394	0.4813	N	0.17474	0.49	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.14023	0.01;0.004	T	0.74976	-0.3480	10	0.20046	T	0.44	.	17.4358	0.87552	0.0:0.8756:0.1244:0.0	.	212;212	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	212	ENSP00000366243:E212K;ENSP00000366266:E212K	ENSP00000366243:E212K	E	-	1	0	TMEM2	73550154	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.719000	0.47244	1.542000	0.49330	0.655000	0.94253	GAA		0.483	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		31	72	0	0	0	1	0	31	72				
CARD6	84674	broad.mit.edu	37	5	40854171	40854171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:40854171C>T	ENST00000254691.5	+	3	2936	c.2737C>T	c.(2737-2739)Cag>Tag	p.Q913*	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	913					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ACCTGCTTCTCAGCAAGGAGT	0.478																																						uc003jmg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2737-2739)Cag>Tag		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							97.0	104.0	102.0					5																	40854171		2203	4300	6503	SO:0001587	stop_gained	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854171C>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2737C>T	5.37:g.40854171C>T	ENSP00000254691:p.Gln913*		Somatic					p.Q913*	NM_032587	NP_115976	WXS	Illumina GAIIx	Phase_I	Q9BX69	CARD6_HUMAN			2	2812	+			913					Q52LR2	Nonsense_Mutation	SNP	ENST00000254691.5	37	c.2737C>T	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	40	8.311953	0.98754	.	.	ENSG00000132357	ENST00000254691	.	.	.	4.38	2.25	0.28309	.	1.143330	0.06705	N	0.772027	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	1.1857	4.5723	0.12216	0.0:0.6335:0.2097:0.1568	.	.	.	.	X	913	.	ENSP00000254691:Q913X	Q	+	1	0	CARD6	40889928	0.006000	0.16342	0.001000	0.08648	0.864000	0.49448	0.849000	0.27723	0.405000	0.25532	0.313000	0.20887	CAG		0.478	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			11	190	0	0	0	1	0	11	190				
LARGE	9215	broad.mit.edu	37	22	34046477	34046477	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr22:34046477C>T	ENST00000354992.2	-	4	855	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LARGE_ENST00000337431.2_Missense_Mutation_p.R95Q|LARGE_ENST00000402320.1_Missense_Mutation_p.R95Q|LARGE_ENST00000397394.2_Missense_Mutation_p.R95Q|LARGE_ENST00000437602.2_Missense_Mutation_p.R95Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	95					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GTGGTTGCCTCGGCGATGGGA	0.682																																					Colon(70;397 1175 4573 19089 45288)	uc003and.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(283-285)cGa>cAa		Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.							59.0	55.0	56.0					22																	34046477		2203	4300	6503	SO:0001583	missense	9215				N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046477C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.284G>A	22.37:g.34046477C>T	ENSP00000347088:p.Arg95Gln		Somatic				LARGE_uc003ane.4_Missense_Mutation_p.R95Q|LARGE_uc010gwp.3_Missense_Mutation_p.R95Q|LARGE_uc011ame.2_Missense_Mutation_p.R27Q|LARGE_uc011amf.2_Missense_Mutation_p.R95Q	p.R95Q	NM_004737	NP_598397	WXS	Illumina GAIIx	Phase_I	O95461	LARGE_HUMAN			3	863	-		Lung NSC(1;0.219)	95					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.284G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092381	0.55968	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071	T;T;T;T;T;T;T;T	0.51325	1.2;1.19;1.2;1.19;0.71;1.53;1.53;1.52	5.45	4.44	0.53790	.	0.188426	0.46145	D	0.000313	T	0.24967	0.0606	N	0.08118	0	0.80722	D	1	B;B;B	0.15473	0.013;0.009;0.013	B;B;B	0.12156	0.004;0.007;0.004	T	0.06534	-1.0821	10	0.15499	T	0.54	-4.4186	10.1789	0.42955	0.0:0.8488:0.0:0.1512	.	95;95;95	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	Q	95	ENSP00000347088:R95Q;ENSP00000336636:R95Q;ENSP00000380549:R95Q;ENSP00000385223:R95Q;ENSP00000388544:R95Q;ENSP00000396277:R95Q;ENSP00000415546:R95Q;ENSP00000389605:R95Q	ENSP00000336636:R95Q	R	-	2	0	LARGE	32376477	0.468000	0.25839	0.837000	0.33122	0.937000	0.57800	0.856000	0.27818	1.296000	0.44742	0.563000	0.77884	CGA		0.682	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		8	120	0	0	0	1	0	8	120				
FSIP2	401024	broad.mit.edu	37	2	186672259	186672259	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:186672259G>C	ENST00000424728.1	+	17	18226	c.18226G>C	c.(18226-18228)Gat>Cat	p.D6076H	FSIP2_ENST00000343098.5_Missense_Mutation_p.D6165H			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6076										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTACAATCTGATGATGATGA	0.328																																						uc002upl.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18493-18495)Gat>Cat		Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.							109.0	107.0	108.0					2																	186672259		1823	4073	5896	SO:0001583	missense	401024							g.chr2:186672259G>C	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18226G>C	2.37:g.186672259G>C	ENSP00000401306:p.Asp6076His		Somatic				FSIP2_uc002upm.3_Intron	p.D6165H	NM_173651	NP_775922	WXS	Illumina GAIIx	Phase_I					16	18493	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18493G>C		.	.	.	.	.	.	.	.	.	.	G	11.47	1.649539	0.29336	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.45668	0.89;0.9	5.26	2.78	0.32641	.	0.543777	0.17945	N	0.156717	T	0.20210	0.0486	N	0.08118	0	0.24227	N	0.995417	.	.	.	.	.	.	T	0.10870	-1.0611	8	0.30078	T	0.28	.	4.9682	0.14102	0.7159:0.185:0.0991:0.0	.	.	.	.	H	6165;6076	ENSP00000344403:D6165H;ENSP00000401306:D6076H	ENSP00000344403:D6165H	D	+	1	0	FSIP2	186380504	0.254000	0.23992	0.993000	0.49108	0.362000	0.29581	1.496000	0.35638	1.026000	0.39733	-0.469000	0.05056	GAT		0.328	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		7	101	0	0	0	1	0	7	101				
COL4A5	1287	broad.mit.edu	37	X	107834385	107834385	+	Silent	SNP	T	T	G	rs104886109		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:107834385T>G	ENST00000361603.2	+	20	1507	c.1263T>G	c.(1261-1263)ccT>ccG	p.P421P	COL4A5_ENST00000328300.6_Silent_p.P421P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	421	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTCCTGGACCTCCTGGACTTG	0.557									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1261-1263)ccT>ccG		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							75.0	78.0	77.0					X																	107834385		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834385T>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1263T>G	X.37:g.107834385T>G			Somatic				COL4A5_uc004enz.1_Silent_p.P421P|COL4A5_uc004eob.1_Silent_p.P29P	p.P421P	NM_033380	NP_203699	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			19	1465	+			421			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.1263T>G	CCDS14543.1																																																																																				0.557	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			26	65	0	0	0	1	0	26	65				
UBE2A	7319	broad.mit.edu	37	X	118708873	118708873	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chrX:118708873G>A	ENST00000371558.2	+	2	228	c.54G>A	c.(52-54)gaG>gaA	p.E18E	UBE2A_ENST00000346330.3_Silent_p.E18E|UBE2A_ENST00000469205.1_3'UTR	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	18					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GGTTGCAGGAGGATCCTCCAG	0.692								Rad6 pathway																														uc004erl.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						c.(52-54)gaG>gaA	Rad6 pathway	Homo sapiens ubiquitin-conjugating enzyme E2A (UBE2A), transcript variant 1, mRNA.							149.0	119.0	129.0					X																	118708873		2203	4300	6503	SO:0001819	synonymous_variant	7319				histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein autoubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chrX:118708873G>A	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.54G>A	X.37:g.118708873G>A			Somatic				UBE2A_uc004erm.3_Silent_p.E18E	p.E18E	NM_003336	NP_861442	WXS	Illumina GAIIx	Phase_I	P49459	UBE2A_HUMAN			1	230	+			18					A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Silent	SNP	ENST00000371558.2	37	c.54G>A	CCDS14580.1																																																																																				0.692	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336		29	46	0	0	0	1	0	29	46				
BEND7	222389	broad.mit.edu	37	10	13541899	13541899	+	Silent	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:13541899G>C	ENST00000396900.2	-	3	326	c.327C>G	c.(325-327)ctC>ctG	p.L109L	BEND7_ENST00000378605.3_Silent_p.L57L|BEND7_ENST00000341083.3_Silent_p.L57L|BEND7_ENST00000396898.2_Silent_p.L109L			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	109						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AAGACGGGTGGAGGCTTTGCG	0.562																																						uc001imm.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(169-171)ctC>ctG		Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.							78.0	80.0	79.0					10																	13541899		2203	4300	6503	SO:0001819	synonymous_variant	222389						protein binding	g.chr10:13541899G>C	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.327C>G	10.37:g.13541899G>C			Somatic				BEND7_uc001imo.4_Silent_p.L57L	p.L57L	NM_152751	NP_689964	WXS	Illumina GAIIx	Phase_I	Q8N7W2	BEND7_HUMAN			2	468	-			109					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37	c.171C>G																																																																																					0.562	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		8	115	0	0	0	1	0	8	115				
KEL	3792	broad.mit.edu	37	7	142650897	142650897	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:142650897C>G	ENST00000355265.2	-	9	1545	c.1071G>C	c.(1069-1071)caG>caC	p.Q357H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	357					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGGCGAACCTCTGCTTTAGCA	0.547																																						uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1069-1071)caG>caC		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							278.0	284.0	282.0					7																	142650897		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650897C>G	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1071G>C	7.37:g.142650897C>G	ENSP00000347409:p.Gln357His		Somatic					p.Q357H	NM_000420	NP_000411	WXS	Illumina GAIIx	Phase_I	P23276	KELL_HUMAN			8	1281	-	Melanoma(164;0.059)		357					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1071G>C	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262896	0.01445	.	.	ENSG00000197993	ENST00000355265	T	0.73681	-0.77	5.73	1.51	0.23008	Peptidase M13 (1);	1.256980	0.05394	N	0.539505	T	0.39759	0.1090	N	0.00197	-1.87	0.19300	N	0.99998	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	10	0.25106	T	0.35	-3.2661	9.8383	0.40982	0.0:0.4413:0.4121:0.1466	.	357	P23276	KELL_HUMAN	H	357	ENSP00000347409:Q357H	ENSP00000347409:Q357H	Q	-	3	2	KEL	142361019	1.000000	0.71417	0.769000	0.31535	0.029000	0.11900	2.336000	0.43938	0.322000	0.23283	-0.290000	0.09829	CAG		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		22	345	0	0	0	1	0	22	345				
DPYSL5	56896	broad.mit.edu	37	2	27165613	27165613	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:27165613G>C	ENST00000288699.6	+	11	1593	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E479Q	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	479					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCAGAGAGAGAAGGTGAG	0.562											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rhu.4																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1435-1437)Gag>Cag		Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.							42.0	41.0	42.0					2																	27165613		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27165613G>C	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1435G>C	2.37:g.27165613G>C	ENSP00000288699:p.Glu479Gln		Somatic	OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	DPYSL5_uc002rhv.4_Missense_Mutation_p.E479Q|DPYSL5_uc021vev.1_Missense_Mutation_p.E479Q	p.E479Q	NM_020134	NP_064519	WXS	Illumina GAIIx	Phase_I	Q9BPU6	DPYL5_HUMAN			10	1593	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		479					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1435G>C	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189773	0.78789	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.86164	-2.08;-2.08	6.08	6.08	0.98989	Metal-dependent hydrolase, composite domain (1);	0.148703	0.64402	D	0.000015	D	0.87613	0.6221	L	0.59436	1.845	0.53688	D	0.999979	P	0.43885	0.82	B	0.43867	0.434	D	0.85746	0.1340	10	0.34782	T	0.22	-35.3913	19.4349	0.94788	0.0:0.0:1.0:0.0	.	479	Q9BPU6	DPYL5_HUMAN	Q	479	ENSP00000288699:E479Q;ENSP00000385549:E479Q	ENSP00000288699:E479Q	E	+	1	0	DPYSL5	27019117	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.456000	0.80751	2.894000	0.99253	0.655000	0.94253	GAG		0.562	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		22	48	0	0	0	1	0	22	48				
MACF1	23499	broad.mit.edu	37	1	39799522	39799522	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:39799522C>T	ENST00000372915.3	+	36	7364	c.7277C>T	c.(7276-7278)tCa>tTa	p.S2426L	MACF1_ENST00000564288.1_Missense_Mutation_p.S2421L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S861L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2458L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2426					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAAAAGTTTCAGTAACTTTG	0.433																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(2581-2583)tCa>tTa		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							61.0	62.0	62.0					1																	39799522		2203	4300	6503	SO:0001583	missense	23499				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	g.chr1:39799522C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7277C>T	1.37:g.39799522C>T	ENSP00000362006:p.Ser2426Leu		Somatic				MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	p.S861L	NM_012090	NP_036222	WXS	Illumina GAIIx	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		0	2582	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2426					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2582C>T		.	.	.	.	.	.	.	.	.	.	C	17.21	3.332729	0.60853	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.80480	-1.38;-1.38	5.47	5.47	0.80525	.	0.138084	0.33591	N	0.004759	D	0.90954	0.7156	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.91930	0.5554	10	0.72032	D	0.01	.	19.3222	0.94246	0.0:1.0:0.0:0.0	.	2426	Q9UPN3	MACF1_HUMAN	L	2426;861	ENSP00000362006:S2426L;ENSP00000289893:S861L	ENSP00000289893:S861L	S	+	2	0	MACF1	39572109	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.601000	0.82783	2.560000	0.86352	0.561000	0.74099	TCA		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	87	0	0	0	1	0	5	87				
CLEC3A	10143	broad.mit.edu	37	16	78064504	78064504	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:78064504G>C	ENST00000575655.1	+	3	441	c.360G>C	c.(358-360)agG>agC	p.R120S	CLEC3A_ENST00000299642.4_Missense_Mutation_p.R129S|CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	120	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ATGGTAAAAGGAGCCTGCCAG	0.488																																						uc002ffh.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(358-360)agG>agC		Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.							88.0	76.0	80.0					16																	78064504		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064504G>C	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.360G>C	16.37:g.78064504G>C	ENSP00000460682:p.Arg120Ser		Somatic				CLEC3A_uc021tlr.1_Missense_Mutation_p.R68S	p.R120S	NM_005752	NP_005743	WXS	Illumina GAIIx	Phase_I	O75596	CLC3A_HUMAN			2	441	+			120			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.360G>C		.	.	.	.	.	.	.	.	.	.	G	15.04	2.716292	0.48622	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.76	-1.09	0.09904	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.339762	0.36482	N	0.002561	T	0.28101	0.0693	N	0.17278	0.47	0.35676	D	0.813703	B	0.06786	0.001	B	0.06405	0.002	T	0.03095	-1.1073	9	0.72032	D	0.01	-5.4882	3.1475	0.06477	0.1839:0.3039:0.398:0.1142	.	120	O75596	CLC3A_HUMAN	S	120	.	ENSP00000299642:R120S	R	+	3	2	CLEC3A	76622005	1.000000	0.71417	0.714000	0.30535	0.959000	0.62525	1.339000	0.33885	-0.305000	0.08831	-0.284000	0.09977	AGG		0.488	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		36	167	0	0	0	1	0	36	167				
MTERF2	80298	broad.mit.edu	37	12	107372093	107372093	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:107372093C>T	ENST00000552029.1	-	2	2468	c.400G>A	c.(400-402)Gag>Aag	p.E134K	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.E134K|MTERFD3_ENST00000392830.2_Missense_Mutation_p.E134K			Q49AM1	MTEF2_HUMAN		134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGAAACTGCTCTATTAACTTG	0.403																																						uc001tme.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(400-402)Gag>Aag		Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.							88.0	94.0	92.0					12																	107372093		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372093C>T																												ENST00000552029.1:c.400G>A	12.37:g.107372093C>T	ENSP00000447651:p.Glu134Lys		Somatic				MTERFD3_uc001tmf.1_Missense_Mutation_p.E134K|MTERFD3_uc001tmg.1_Missense_Mutation_p.E134K|MTERFD3_uc021rdh.1_Missense_Mutation_p.E134K|MTERFD3_uc001tmh.1_Missense_Mutation_p.E134K	p.E134K	NM_025198	NP_079474	WXS	Illumina GAIIx	Phase_I	Q49AM1	MTER3_HUMAN			1	2219	-			134					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.400G>A	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860384	0.51482	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029;ENST00000548101	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.95	4.12	0.48240	.	0.047014	0.85682	D	0.000000	T	0.09730	0.0239	M	0.71581	2.175	0.58432	D	0.999997	B	0.23442	0.085	B	0.23275	0.045	T	0.08086	-1.0739	10	0.09590	T	0.72	-0.9639	9.1621	0.37030	0.0:0.7465:0.122:0.1315	.	134	Q49AM1	MTER3_HUMAN	K	134	ENSP00000376575:E134K;ENSP00000240050:E134K;ENSP00000447651:E134K;ENSP00000448343:E134K	ENSP00000240050:E134K	E	-	1	0	MTERFD3	105896223	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.829000	0.55760	0.844000	0.35094	0.563000	0.77884	GAG		0.403	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			45	85	0	0	0	1	0	45	85				
DHX40	79665	broad.mit.edu	37	17	57642992	57642992	+	5'UTR	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr17:57642992C>T	ENST00000251241.4	+	0	107				DHX40_ENST00000451169.2_5'UTR|DHX40_ENST00000425628.3_5'UTR	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40								ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCCATCTCCTCAGATCGGTGG	0.662																																						uc002ixo.1																			0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.e1-1		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.							18.0	21.0	20.0					17																	57642992		2202	4298	6500	SO:0001623	5_prime_UTR_variant	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57642992C>T	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.-41C>T	17.37:g.57642992C>T			Somatic				DHX40_uc002ixn.2_5'UTR|DHX40_uc010woe.2_5'UTR				WXS	Illumina GAIIx	Phase_I	Q8IX18	DHX40_HUMAN			1	1	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Splice_Site	SNP	ENST00000251241.4	37	c.-355_splice	CCDS11617.1																																																																																				0.662	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		12	11	0	0	0	1	0	12	11				
KLHDC8B	200942	broad.mit.edu	37	3	49210251	49210251	+	Missense_Mutation	SNP	A	A	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:49210251A>G	ENST00000332780.2	+	2	258	c.49A>G	c.(49-51)Atg>Gtg	p.M17V	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	17						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTTCCCCCCCATGCCCACTTG	0.632																																						uc003cwh.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(49-51)Atg>Gtg		Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.							56.0	53.0	54.0					3																	49210251		2203	4300	6503	SO:0001583	missense	200942					cytoplasm		g.chr3:49210251A>G		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.49A>G	3.37:g.49210251A>G	ENSP00000327468:p.Met17Val		Somatic				KLHDC8B_uc003cwi.1_5'Flank	p.M17V	NM_173546	NP_775817	WXS	Illumina GAIIx	Phase_I	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	284	+			17						Missense_Mutation	SNP	ENST00000332780.2	37	c.49A>G	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.770484	0.69992	.	.	ENSG00000185909	ENST00000332780	T	0.66995	-0.24	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.84683	2.71	0.80722	D	1	B	0.33266	0.404	B	0.32533	0.147	T	0.75491	-0.3299	10	0.87932	D	0	-24.1474	14.4471	0.67359	1.0:0.0:0.0:0.0	.	17	Q8IXV7	KLD8B_HUMAN	V	17	ENSP00000327468:M17V	ENSP00000327468:M17V	M	+	1	0	KLHDC8B	49185255	0.990000	0.36364	1.000000	0.80357	0.939000	0.58152	2.992000	0.49417	2.019000	0.59389	0.459000	0.35465	ATG		0.632	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		22	57	0	0	0	1	0	22	57				
TRIM51	84767	broad.mit.edu	37	11	55658652	55658652	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr11:55658652C>G	ENST00000449290.2	+	7	995	c.903C>G	c.(901-903)ttC>ttG	p.F301L	TRIM51_ENST00000244891.3_Missense_Mutation_p.F158L	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GTCATATCTTCCTGTGTGGAG	0.353																																						uc010rip.2																			0											c.(901-903)ttC>ttG		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							77.0	84.0	81.0					11																	55658652		2053	3911	5964	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658652C>G	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.903C>G	11.37:g.55658652C>G	ENSP00000395086:p.Phe301Leu		Somatic				TRIM51_uc010riq.2_Missense_Mutation_p.F158L	p.F301L	NM_032681	NP_116070	WXS	Illumina GAIIx	Phase_I	Q9BSJ1	SPRY5_HUMAN			6	995	+			301			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.903C>G		.	.	.	.	.	.	.	.	.	.	.	3.998	-0.003135	0.07773	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04502	3.61;3.61	0.892	-1.78	0.07957	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03520	0.0101	L	0.46819	1.47	0.23649	N	0.997208	B	0.09022	0.002	B	0.08055	0.003	T	0.48958	-0.8988	9	0.07644	T	0.81	.	3.6826	0.08316	0.0:0.5087:0.4913:0.0	.	301	Q9BSJ1	SPRY5_HUMAN	L	301;158	ENSP00000395086:F301L;ENSP00000244891:F158L	ENSP00000244891:F158L	F	+	3	2	SPRYD5	55415228	0.713000	0.27926	0.343000	0.25615	0.417000	0.31264	0.022000	0.13511	0.159000	0.19401	0.162000	0.16502	TTC		0.353	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		16	102	0	0	0	1	0	16	102				
HMOX2	3163	broad.mit.edu	37	16	4557905	4557905	+	Silent	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:4557905G>A	ENST00000570646.1	+	4	1001	c.396G>A	c.(394-396)caG>caA	p.Q132Q	HMOX2_ENST00000398595.3_Silent_p.Q132Q|HMOX2_ENST00000406590.2_Silent_p.Q132Q|HMOX2_ENST00000575120.1_Silent_p.Q103Q|HMOX2_ENST00000458134.3_Silent_p.Q132Q|HMOX2_ENST00000414777.1_Silent_p.Q132Q|HMOX2_ENST00000219700.6_Silent_p.Q132Q	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	132					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						AGGCTGCCCAGAAGTACGTGG	0.607																																						uc010bts.3																			0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(394-396)caG>caA		Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 4, mRNA.	NADH(DB00157)						51.0	50.0	50.0					16																	4557905		2197	4300	6497	SO:0001819	synonymous_variant	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4557905G>A		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.396G>A	16.37:g.4557905G>A			Somatic				HMOX2_uc002cwr.4_Silent_p.Q132Q|HMOX2_uc002cwq.4_Silent_p.Q132Q|HMOX2_uc010btt.3_Silent_p.Q132Q|HMOX2_uc002cwt.3_Silent_p.Q132Q	p.Q132Q	NM_001127206	NP_002125	WXS	Illumina GAIIx	Phase_I	P30519	HMOX2_HUMAN			3	567	+			132					A8MT35|D3DUD5|I3L430|O60605	Silent	SNP	ENST00000570646.1	37	c.396G>A	CCDS10517.1																																																																																				0.607	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			6	69	0	0	0	1	0	6	69				
ZFHX3	463	broad.mit.edu	37	16	72821420	72821420	+	Silent	SNP	A	A	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:72821420A>C	ENST00000268489.5	-	10	11427	c.10755T>G	c.(10753-10755)tcT>tcG	p.S3585S	RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2671S|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3585					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTGCGAGGTAGATGCGGTGC	0.617																																						uc002fck.3																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10753-10755)tcT>tcG		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							273.0	211.0	232.0					16																	72821420		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821420A>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10755T>G	16.37:g.72821420A>C			Somatic				AK021563_uc002fcj.1_Intron|ZFHX3_uc002fcl.3_Silent_p.S2671S	p.S3585S	NM_006885	NP_008816	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	11428	-		Ovarian(137;0.13)	3585					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10755T>G	CCDS10908.1																																																																																				0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		48	80	0	0	0	1	0	48	80				
CPA1	1357	broad.mit.edu	37	7	130027837	130027837	+	Silent	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:130027837G>C	ENST00000011292.3	+	10	1395	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	CPA1_ENST00000484324.1_Silent_p.L327L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	415					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGCACACCCTGAATCACCCCT	0.567																																						uc003vpx.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(1243-1245)ctG>ctC		Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.							210.0	192.0	198.0					7																	130027837		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130027837G>C		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.1245G>C	7.37:g.130027837G>C			Somatic					p.L415L	NM_001868	NP_001859	WXS	Illumina GAIIx	Phase_I	P15085	CBPA1_HUMAN			9	1317	+	Melanoma(18;0.0435)		415					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.1245G>C	CCDS5820.1																																																																																				0.567	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		14	278	0	0	0	1	0	14	278				
CBX5	23468	broad.mit.edu	37	12	54651351	54651351	+	Missense_Mutation	SNP	C	C	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:54651351C>A	ENST00000439541.2	-	2	209	c.84G>T	c.(82-84)agG>agT	p.R28S	CBX5_ENST00000209875.4_Missense_Mutation_p.R28S|RN7SL390P_ENST00000470634.2_RNA|CBX5_ENST00000550411.1_Missense_Mutation_p.R28S	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	28	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TAACCACGCGCCTGTCTAGCA	0.488																																					Colon(153;588 2459 18334 48613)	uc001sfk.4																			0		p.R28M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(82-84)agG>agT		Homo sapiens chromobox homolog 5 (CBX5), transcript variant 3, mRNA.							178.0	154.0	162.0					12																	54651351		2203	4300	6503	SO:0001583	missense	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54651351C>A	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.84G>T	12.37:g.54651351C>A	ENSP00000401009:p.Arg28Ser		Somatic				CBX5_uc001sfh.4_Missense_Mutation_p.R28S|CBX5_uc001sfj.4_Missense_Mutation_p.R28S	p.R28S	NM_012117	NP_036249	WXS	Illumina GAIIx	Phase_I	P45973	CBX5_HUMAN			1	250	-			28			Chromo 1.		B2R8T9	Missense_Mutation	SNP	ENST00000439541.2	37	c.84G>T	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420968	0.42918	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.65	1.58	0.23477	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	L	0.35854	1.095	0.58432	D	0.999999	P;B	0.51449	0.945;0.447	D;B	0.66351	0.943;0.411	T	0.66392	-0.5935	10	0.52906	T	0.07	-13.7831	3.2693	0.06876	0.1772:0.4823:0.0:0.3405	.	28;28	G3V1X9;P45973	.;CBX5_HUMAN	S	28	ENSP00000209875:R28S;ENSP00000401009:R28S;ENSP00000449207:R28S;ENSP00000450190:R28S	ENSP00000209875:R28S	R	-	3	2	CBX5	52937618	0.788000	0.28762	1.000000	0.80357	0.619000	0.37552	-0.089000	0.11180	0.478000	0.27488	-0.137000	0.14449	AGG		0.488	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		41	63	0	0	0	1	0	41	63				
TMEM38A	79041	broad.mit.edu	37	19	16799102	16799102	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:16799102C>G	ENST00000187762.2	+	6	911	c.820C>G	c.(820-822)Cag>Gag	p.Q274E		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	274						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GCCAGGAGCTCAGCATTCGGC	0.647																																						uc002nes.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(820-822)Cag>Gag		Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.							65.0	67.0	66.0					19																	16799102		2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799102C>G	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.820C>G	19.37:g.16799102C>G	ENSP00000187762:p.Gln274Glu		Somatic					p.Q274E	NM_024074	NP_076979	WXS	Illumina GAIIx	Phase_I	Q9H6F2	TM38A_HUMAN			5	911	+			274					A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.820C>G	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	1.386	-0.582102	0.03827	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.17	1.97	0.26223	.	0.786063	0.11766	N	0.531636	T	0.22437	0.0541	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.31052	-0.9957	9	0.02654	T	1	-0.05	6.8022	0.23758	0.0:0.7234:0.1769:0.0997	.	274	Q9H6F2	TM38A_HUMAN	E	274	.	ENSP00000187762:Q274E	Q	+	1	0	TMEM38A	16660102	0.001000	0.12720	0.001000	0.08648	0.176000	0.22953	0.833000	0.27504	0.243000	0.21327	0.561000	0.74099	CAG		0.647	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		8	170	0	0	0	1	0	8	170				
SERTAD3	29946	broad.mit.edu	37	19	40947970	40947970	+	Silent	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr19:40947970C>T	ENST00000322354.3	-	2	514	c.18G>A	c.(16-18)aaG>aaA	p.K6K	SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_Silent_p.K6K	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	6					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTGTTTCCTCTTCAAGCCTC	0.562																																						uc002onu.4																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(16-18)aaG>aaA		Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA.							22.0	20.0	20.0					19																	40947970		2203	4300	6503	SO:0001819	synonymous_variant	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947970C>T	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.18G>A	19.37:g.40947970C>T			Somatic				SERTAD3_uc002onv.4_Silent_p.K6K|SERTAD3_uc021uut.1_Silent_p.K6K	p.K6K	NM_013368	NP_976219	WXS	Illumina GAIIx	Phase_I	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		1	296	-			6					B3KQB3|Q96CQ2	Silent	SNP	ENST00000322354.3	37	c.18G>A	CCDS12558.1																																																																																				0.562	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		15	19	0	0	0	1	0	15	19				
DST	667	broad.mit.edu	37	6	56496024	56496024	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr6:56496024G>A	ENST00000361203.3	-	26	3501	c.3494C>T	c.(3493-3495)tCc>tTc	p.S1165F	DST_ENST00000518935.1_Missense_Mutation_p.S839F|DST_ENST00000370754.5_Missense_Mutation_p.S1343F|DST_ENST00000370765.6_Missense_Mutation_p.S839F|DST_ENST00000370788.2_Missense_Mutation_p.S1165F|DST_ENST00000244364.6_Missense_Mutation_p.S839F|DST_ENST00000421834.2_Missense_Mutation_p.S1165F|DST_ENST00000312431.6_Missense_Mutation_p.S1165F|DST_ENST00000446842.2_Missense_Mutation_p.S839F|DST_ENST00000370769.4_Missense_Mutation_p.S1165F			Q03001	DYST_HUMAN	dystonin	1165					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTAAGTGGAAGACATAGA	0.318																																						uc003pcy.4																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(2515-2517)tCc>tTc		Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.							112.0	105.0	107.0					6																	56496024		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	g.chr6:56496024G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3494C>T	6.37:g.56496024G>A	ENSP00000354508:p.Ser1165Phe		Somatic				DST_uc021zay.1_Missense_Mutation_p.S1205F|DST_uc021zax.1_Missense_Mutation_p.S839F|DST_uc003pdc.4_Missense_Mutation_p.S839F|DST_uc003pdd.4_Missense_Mutation_p.S839F	p.S839F	NM_015548	NP_056363	WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		15	2624	-	Lung NSC(77;0.103)		1165					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2516C>T		.	.	.	.	.	.	.	.	.	.	G	26.0	4.698399	0.88830	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.77358	-1.09;1.3;1.3;1.3;1.3;-1.09;1.3;-0.25;-1.09;-1.09;-1.09;-1.09	5.57	5.57	0.84162	.	0.135982	0.33712	N	0.004636	D	0.85957	0.5818	M	0.69823	2.125	0.34927	D	0.749013	P;D;P;P;P;D;P;P	0.69078	0.771;0.989;0.771;0.865;0.831;0.997;0.771;0.534	P;P;P;P;P;D;P;B	0.71656	0.48;0.768;0.48;0.713;0.622;0.974;0.48;0.196	D	0.86433	0.1762	9	0.66056	D	0.02	.	19.5635	0.95382	0.0:0.0:1.0:0.0	.	1165;1165;1343;839;839;839;1165;839	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	F	839;1343;1165;1165;839;1165;1165;1165;839;1205;839;839	ENSP00000244364:S839F;ENSP00000359790:S1343F;ENSP00000359805:S1165F;ENSP00000400883:S1165F;ENSP00000393645:S839F;ENSP00000307959:S1165F;ENSP00000359824:S1165F;ENSP00000354508:S1165F;ENSP00000404924:S839F;ENSP00000431030:S1205F;ENSP00000359801:S839F;ENSP00000431003:S839F	ENSP00000244364:S839F	S	-	2	0	DST	56603983	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	5.544000	0.67231	2.636000	0.89361	0.557000	0.71058	TCC		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	23	0	0	0	1	0	7	23				
EPSTI1	94240	broad.mit.edu	37	13	43462494	43462494	+	IGR	SNP	G	G	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr13:43462494G>A	ENST00000398762.3	-	0	957				EPSTI1_ENST00000313640.7_Silent_p.V375V|EPSTI1_ENST00000313624.7_3'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)									p.V375V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		AGTCACTCCTGACTGCACGGT	0.418																																						uc001uyw.1																			1	Substitution - coding silent(1)	p.V375V(2)	lung(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(1123-1125)gtC>gtT		Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.							77.0	73.0	75.0					13																	43462494		2203	4300	6503	SO:0001628	intergenic_variant	94240							g.chr13:43462494G>A	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814		13.37:g.43462494G>A			Somatic				EPSTI1_uc001uyx.1_3'UTR	p.V375V	NM_001002264	NP_001002264	WXS	Illumina GAIIx	Phase_I	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	12	1201	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	0					Q8IVC7|Q8NDQ7	Silent	SNP	ENST00000398762.3	37	c.1125C>T	CCDS9387.1																																																																																				0.418	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		30	54	0	0	0	1	0	30	54				
LOX	4015	broad.mit.edu	37	5	121413255	121413255	+	Silent	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:121413255C>T	ENST00000231004.4	-	1	725	c.426G>A	c.(424-426)gcG>gcA	p.A142A	LOX_ENST00000513319.1_5'Flank	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	142					blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TCTGGTTCTCCGCGCGCGAGG	0.682																																						uc003ksu.3																			0				endometrium(1)|lung(6)|prostate(1)	8						c.(424-426)gcG>gcA		Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.							23.0	28.0	27.0					5																	121413255		2179	4294	6473	SO:0001819	synonymous_variant	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121413255C>T		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.426G>A	5.37:g.121413255C>T			Somatic				LOX_uc010jcq.3_5'Flank|LOX_uc010jcr.3_5'Flank|LOX_uc011cwk.2_5'Flank	p.A142A	NM_002317	NP_002308	WXS	Illumina GAIIx	Phase_I	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	0	801	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	142					B2R5Q3|Q5FWF0	Silent	SNP	ENST00000231004.4	37	c.426G>A	CCDS4129.1																																																																																				0.682	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			28	38	0	0	0	1	0	28	38				
C10orf62	414157	broad.mit.edu	37	10	99349675	99349675	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:99349675G>C	ENST00000370640.3	+	1	226	c.21G>C	c.(19-21)aaG>aaC	p.K7N	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	7										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		TTCAGAGAAAGAGGAGAAGAA	0.498																																						uc001koa.3																			0				endometrium(2)|kidney(1)|lung(1)	4						c.(19-21)aaG>aaC		Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA.							101.0	102.0	102.0					10																	99349675		2203	4300	6503	SO:0001583	missense	414157						protein binding	g.chr10:99349675G>C		CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.21G>C	10.37:g.99349675G>C	ENSP00000359674:p.Lys7Asn		Somatic				PI4K2A_uc001knx.2_Intron|PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	p.K7N	NM_001009997	NP_001009997	WXS	Illumina GAIIx	Phase_I	Q5T681	CJ062_HUMAN		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)	0	226	+		Colorectal(252;0.162)	7					Q49A70|Q8N3Y6	Missense_Mutation	SNP	ENST00000370640.3	37	c.21G>C	CCDS31261.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238002	0.39598	.	.	ENSG00000203942	ENST00000370640	T	0.55234	0.53	4.01	2.09	0.27110	.	0.155263	0.29760	U	0.011279	T	0.54159	0.1841	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.52449	-0.8574	10	0.72032	D	0.01	-22.5031	6.9497	0.24538	0.2272:0.0:0.7728:0.0	.	7	Q5T681	CJ062_HUMAN	N	7	ENSP00000359674:K7N	ENSP00000359674:K7N	K	+	3	2	C10orf62	99339665	0.984000	0.35163	0.504000	0.27639	0.580000	0.36256	0.514000	0.22786	0.264000	0.21851	0.453000	0.30009	AAG		0.498	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		5	88	0	0	0	1	0	5	88				
GOLGA2P5	55592	broad.mit.edu	37	12	100551837	100551837	+	RNA	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr12:100551837C>T	ENST00000397112.4	-	0	1618				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						ACCTCCTCCTCCTCCTCACTG	0.632																																						uc001tgs.3																			0											c.(16-18)Gag>Aag		Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.							86.0	62.0	70.0					12																	100551837		2203	4300	6503			55592							g.chr12:100551837C>T																													12.37:g.100551837C>T			Somatic				GOLGA2P5_uc001tgt.3_Non-coding_Transcript|GOLGA2P5_uc021rcm.1_Non-coding_Transcript	p.E6K			WXS	Illumina GAIIx	Phase_I					2	460	-								Q9NSV2	Missense_Mutation	SNP	ENST00000397112.4	37	c.16G>A																																																																																					0.632	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			3	14	0	0	0	1	0	3	14				
UBP1	7342	broad.mit.edu	37	3	33450189	33450189	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:33450189C>T	ENST00000283629.3	-	8	1449	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000283628.5_Missense_Mutation_p.R307Q|UBP1_ENST00000447368.2_Intron	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	307					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TACACTGCCTCGCTTTGCCAG	0.448																																						uc003cfq.4																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(919-921)cGa>cAa		Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.							104.0	99.0	100.0					3																	33450189		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33450189C>T	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.920G>A	3.37:g.33450189C>T	ENSP00000283629:p.Arg307Gln		Somatic				UBP1_uc003cfr.4_Intron|UBP1_uc010hga.3_Missense_Mutation_p.R307Q	p.R307Q	NM_014517	NP_055332	WXS	Illumina GAIIx	Phase_I	Q9NZI7	UBIP1_HUMAN			7	1450	-			307					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.920G>A	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202641	0.79127	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	T;T	0.17528	2.27;2.27	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	L	0.47716	1.5	0.58432	D	0.999991	D	0.69078	0.997	D	0.70227	0.968	T	0.00492	-1.1707	10	0.26408	T	0.33	-8.6651	18.3756	0.90435	0.0:1.0:0.0:0.0	.	307	Q9NZI7	UBIP1_HUMAN	Q	307	ENSP00000283629:R307Q;ENSP00000283628:R307Q	ENSP00000283628:R307Q	R	-	2	0	UBP1	33425193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.985000	0.76193	2.780000	0.95670	0.585000	0.79938	CGA		0.448	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		5	63	0	0	0	1	0	5	63				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	26	0	0	0	1	0	24	26				
RALGAPB	57148	broad.mit.edu	37	20	37153437	37153437	+	Missense_Mutation	SNP	A	A	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr20:37153437A>T	ENST00000262879.6	+	11	1920	c.1636A>T	c.(1636-1638)Att>Ttt	p.I546F	RALGAPB_ENST00000397038.1_Missense_Mutation_p.I324F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.I546F|RALGAPB_ENST00000537204.1_Nonstop_Mutation_p.*478Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.I546F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	546					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATGCTTTTAATTCAAGGTTT	0.328																																						uc010zvz.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1432-1434)taA>taT		Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.							161.0	149.0	153.0					20																	37153437		2202	4300	6502	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	g.chr20:37153437A>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1636A>T	20.37:g.37153437A>T	ENSP00000262879:p.Ile546Phe		Somatic				RALGAPB_uc002xiw.3_Missense_Mutation_p.I546F|RALGAPB_uc002xix.3_Missense_Mutation_p.I546F|RALGAPB_uc002xiy.1_Missense_Mutation_p.I546F|RALGAPB_uc002xiz.3_Missense_Mutation_p.I324F|RALGAPB_uc002xja.1_Missense_Mutation_p.I273F	p.*478Y			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			9	1691	+			0					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonstop_Mutation	SNP	ENST00000262879.6	37	c.1434A>T	CCDS13305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.80|18.80	3.700221|3.700221	0.68501|0.68501	.|.	.|.	ENSG00000170471|ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490|ENST00000537204	T;T|.	0.65732|.	-0.17;-0.17|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.150888|.	0.64402|.	D|.	0.000019|.	T|.	0.44891|.	0.1315|.	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999996|0.999996	P;P;P;P|.	0.41131|.	0.739;0.571;0.571;0.571|.	B;B;B;B|.	0.43728|.	0.429;0.395;0.395;0.395|.	T|.	0.37009|.	-0.9724|.	10|.	0.33940|.	T|.	0.23|.	.|.	9.8766|9.8766	0.41207|0.41207	0.9234:0.0:0.0766:0.0|0.9234:0.0:0.0766:0.0	.|.	374;546;546;546|.	A2A2F0;Q86X10-4;A2A2E9;Q86X10|.	.;.;.;RLGPB_HUMAN|.	F|Y	546;546;546;324;546;374|478	ENSP00000262879:I546F;ENSP00000380233:I546F|.	ENSP00000262879:I546F|.	I|X	+|+	1|3	0|2	RALGAPB|RALGAPB	36586851|36586851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.529000|7.529000	0.81952|0.81952	2.035000|2.035000	0.60131|0.60131	0.459000|0.459000	0.35465|0.35465	ATT|TAA		0.328	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		42	53	0	0	0	1	0	42	53				
CACNA1E	777	broad.mit.edu	37	1	181767468	181767468	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr1:181767468C>G	ENST00000367573.2	+	48	6440	c.6440C>G	c.(6439-6441)tCt>tGt	p.S2147C	CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2104C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2098C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2128C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2036C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.S2085C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1711C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2147					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCTCTGTCTCTGACACCAGC	0.592																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(6439-6441)tCt>tGt		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							124.0	134.0	131.0					1																	181767468		2024	4177	6201	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767468C>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6440C>G	1.37:g.181767468C>G	ENSP00000356545:p.Ser2147Cys		Somatic				CACNA1E_uc001gow.3_Missense_Mutation_p.S2104C|CACNA1E_uc009wxs.3_Missense_Mutation_p.S2085C	p.S2147C	NM_001205293	NP_001192222	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			47	6635	+			2147					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6440C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643482	0.87859	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99369	-5.6;-5.58;-4.93;-5.57;-5.78;-4.93;-4.93	5.59	5.59	0.84812	.	0.057749	0.64402	D	0.000001	D	0.99299	0.9755	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.935	D	0.99821	1.1047	10	0.87932	D	0	.	19.2073	0.93736	0.0:1.0:0.0:0.0	.	2085;2104	Q15878-2;Q15878-3	.;.	C	2104;2085;2098;2036;1711;2128;2147	ENSP00000356542:S2104C;ENSP00000434814:S2085C;ENSP00000350183:S2098C;ENSP00000351101:S2036C;ENSP00000356539:S1711C;ENSP00000353222:S2128C;ENSP00000356545:S2147C	ENSP00000350183:S2098C	S	+	2	0	CACNA1E	180034091	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.148000	0.77389	2.622000	0.88805	0.563000	0.77884	TCT		0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		13	182	0	0	0	1	0	13	182				
FAM53B	9679	broad.mit.edu	37	10	126312016	126312016	+	Missense_Mutation	SNP	A	A	C			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr10:126312016A>C	ENST00000337318.3	-	5	1275	c.1064T>G	c.(1063-1065)gTc>gGc	p.V355G	FAM53B_ENST00000392754.3_Missense_Mutation_p.V355G|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	355										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGCTCAGGGACCGGGGTCCC	0.706																																						uc001lhv.1																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(1063-1065)gTc>gGc		Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA.							13.0	13.0	13.0					10																	126312016		2188	4278	6466	SO:0001583	missense	9679							g.chr10:126312016A>C	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1064T>G	10.37:g.126312016A>C	ENSP00000338532:p.Val355Gly		Somatic				FAM53B_uc001lhu.1_Intron	p.V355G	NM_014661	NP_055476	WXS	Illumina GAIIx	Phase_I	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	1587	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	355					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1064T>G	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	A	1.879	-0.458415	0.04508	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.18	1.56	0.23342	.	0.751657	0.12430	N	0.469651	T	0.28200	0.0696	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18618	-1.0331	9	0.40728	T	0.16	-6.6267	5.5059	0.16854	0.6684:0.1604:0.1713:0.0	.	355	Q14153	FA53B_HUMAN	G	355	.	ENSP00000338532:V355G	V	-	2	0	FAM53B	126302006	0.972000	0.33761	0.001000	0.08648	0.349000	0.29174	1.981000	0.40628	0.461000	0.27071	0.533000	0.62120	GTC		0.706	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		13	11	0	0	0	1	0	13	11				
MST1R	4486	broad.mit.edu	37	3	49933541	49933541	+	Splice_Site	SNP	C	C	T			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr3:49933541C>T	ENST00000296474.3	-	11	2677		c.e11-1		MST1R_ENST00000344206.4_Intron	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)						cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCCAATATACTGCAGAGAGG	0.577																																						uc003cxy.4																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.e11-1		Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.							94.0	105.0	101.0					3																	49933541		2203	4300	6503	SO:0001630	splice_region_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49933541C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2650-1G>A	3.37:g.49933541C>T			Somatic				MST1R_uc011bdc.2_Intron	p.Y884_splice	NM_002447	NP_002438	WXS	Illumina GAIIx	Phase_I	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	11	2914	-			884					B5A944|B5A945|B5A946|B5A947	Splice_Site	SNP	ENST00000296474.3	37	c.2650_splice	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998827	0.35226	.	.	ENSG00000164078	ENST00000296474	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8376	0.78811	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MST1R	49908545	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	4.363000	0.59473	2.521000	0.84997	0.313000	0.20887	.		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		Intron	55	127	0	0	0	1	0	55	127				
CARD6	84674	broad.mit.edu	37	5	40854298	40854298	+	Missense_Mutation	SNP	C	C	G			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr5:40854298C>G	ENST00000254691.5	+	3	3063	c.2864C>G	c.(2863-2865)tCc>tGc	p.S955C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	955					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTCAAACACTCCCAGCCTAAA	0.502																																						uc003jmg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2863-2865)tCc>tGc		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							216.0	239.0	231.0					5																	40854298		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854298C>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2864C>G	5.37:g.40854298C>G	ENSP00000254691:p.Ser955Cys		Somatic					p.S955C	NM_032587	NP_115976	WXS	Illumina GAIIx	Phase_I	Q9BX69	CARD6_HUMAN			2	2939	+			955					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2864C>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553888	0.27739	.	.	ENSG00000132357	ENST00000254691	D	0.96200	-3.94	4.38	2.28	0.28536	.	0.936169	0.08889	N	0.878858	D	0.89121	0.6625	N	0.19112	0.55	0.09310	N	0.999995	P	0.40000	0.698	B	0.36418	0.224	T	0.81803	-0.0765	10	0.56958	D	0.05	-0.1986	4.9788	0.14155	0.0:0.5962:0.0:0.4038	.	955	Q9BX69	CARD6_HUMAN	C	955	ENSP00000254691:S955C	ENSP00000254691:S955C	S	+	2	0	CARD6	40890055	0.000000	0.05858	0.001000	0.08648	0.151000	0.21798	0.332000	0.19751	0.368000	0.24481	0.313000	0.20887	TCC		0.502	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			24	282	0	0	0	1	0	24	282				
C2orf73	129852	broad.mit.edu	37	2	54562140	54562141	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr2:54562140_54562141insA	ENST00000398634.2	+	2	255_256	c.213_214insA	c.(214-216)aaafs	p.K72fs	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	72										breast(2)	2						ACATAGATCCCAAAAAAGGGCC	0.332																																						uc002rxt.1																			0				breast(2)	2						c.(211-216)cccaaafs		Homo sapiens chromosome 2 open reading frame 73 (C2orf73), mRNA.																																				SO:0001589	frameshift_variant	129852							g.chr2:54562140_54562141insA	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.219dupA	2.37:g.54562146_54562146dupA	ENSP00000381631:p.Lys72fs		Somatic				C2orf73_uc010yor.1_Intron|C2orf73_uc002rxs.1_Intron|C2orf73_uc010yos.1_Intron	p.P71fs	NM_001100396	NP_001093866	WXS	Illumina GAIIx	Phase_I	Q8N5S3	CB073_HUMAN			1	255_256	+			71					A0AV79|A0AV81|Q8N7V4	Frame_Shift_Ins	INS	ENST00000398634.2	37	c.213_214insA	CCDS46285.1																																																																																				0.332	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		2	4						2	4	---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	436799	436801	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr4:436799_436801delGAG	ENST00000338977.5	-	2	1467_1469	c.1419_1421delCTC	c.(1417-1422)tcctca>tca	p.473_474SS>S	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_In_Frame_Del_p.485_486SS>S|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGCAAAGCTTGAGGATGAGGTAA	0.369																																						uc003gaf.4																			0											c.(1549-1554)tcctca>tca		Homo sapiens zinc finger protein 721 (ZNF721), mRNA.				2,3976		1,0,1988						0.4	0.1			78	1,8109		0,1,4054	no	coding	ZNF721	NM_133474.2		1,1,6042	A1A1,A1R,RR		0.0123,0.0503,0.0248				3,12085				SO:0001651	inframe_deletion	79963							g.chr4:436799_436801delGAG	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1419_1421delCTC	4.37:g.436799_436801delGAG	ENSP00000340524:p.Ser475del		Somatic				ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_In_Frame_Del_p.485_486SS>S|ABCA11P_uc010ibe.3_In_Frame_Del_p.473_474SS>S	p.517_518SS>S	NM_133474	NP_597731	WXS	Illumina GAIIx	Phase_I					2	1777_1779	-								Q69YG7	In_Frame_Del	DEL	ENST00000338977.5	37	c.1551_1553delCTC																																																																																					0.369	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		19	30						19	30	---	---	---	---
C9orf152	401546	broad.mit.edu	37	9	112963659	112963662	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr9:112963659_112963662delCAGA	ENST00000400613.4	-	2	895_898	c.286_289delTCTG	c.(286-291)tctgagfs	p.SE96fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	96								p.E76Q(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCCTCCACCTCAGAATCTGCCTCT	0.554																																						uc011lwk.2																			1	Substitution - Missense(1)	p.E76Q(1)	NS(1)	NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(286-291)tctgagfs		Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.																																				SO:0001589	frameshift_variant	401546							g.chr9:112963659_112963662delCAGA	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.286_289delTCTG	9.37:g.112963659_112963662delCAGA	ENSP00000383456:p.Ser96fs		Somatic				C9orf152_uc022blq.1_5'Flank	p.S96fs	NM_001012993	NP_001013011	WXS	Illumina GAIIx	Phase_I	Q5JTZ5	CI152_HUMAN			1	840_843	-			96					A8MWT6	Frame_Shift_Del	DEL	ENST00000400613.4	37	c.286_289delTCTG	CCDS35102.2																																																																																				0.554	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		29	54						29	54	---	---	---	---
E2F4	1874	broad.mit.edu	37	16	67233140	67233140	+	IGR	DEL	C	C	-			TCGA-L6-A4EU-01A-11D-A257-08	TCGA-L6-A4EU-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	550bb92b-1fa2-4009-a523-e00d8023ad94	f1d7a99d-8365-4a2f-9aff-02ab48124103	g.chr16:67233140delC	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Frame_Shift_Del_p.P24fs|ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000360833.1_Frame_Shift_Del_p.P24fs	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGGAGGACCTCCTCGTCCCCA	0.701																																						uc002esa.3																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(70-72)cctfs		Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.							21.0	29.0	27.0					16																	67233140		2073	4194	6267	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233140delC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233140delC			Somatic				ELMO3_uc002esb.3_Frame_Shift_Del_p.P24fs|ELMO3_uc002esc.3_5'Flank	p.P24fs	NM_024712	NP_078988	WXS	Illumina GAIIx	Phase_I	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	0	113	+		Ovarian(137;0.0563)	0					A6NGR8|B5BU56|Q12991|Q15328	Frame_Shift_Del	DEL	ENST00000379378.3	37	c.70delC	CCDS32464.1																																																																																				0.701	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		14	17						14	17	---	---	---	---
