#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			5	221	0	0	0	1	0	5	221				
ATR	545	broad.mit.edu	37	3	142268455	142268455	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:142268455G>C	ENST00000350721.4	-	15	3158	c.3037C>G	c.(3037-3039)Ctc>Gtc	p.L1013V	ATR_ENST00000383101.3_Missense_Mutation_p.L949V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1013					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTTCGAATGAGAGCAGAAGCT	0.343								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(3037-3039)Ctc>Gtc	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							52.0	54.0	53.0					3																	142268455		2202	4298	6500	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142268455G>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3037C>G	3.37:g.142268455G>C	ENSP00000343741:p.Leu1013Val					ATR_ENST00000383101.3_Missense_Mutation_p.L949V	p.L1013V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			15	3158	-			1013					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.3037C>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689341	0.48097	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.64085	-0.08;-0.08	5.59	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.139502	0.49305	D	0.000142	T	0.47911	0.1471	N	0.24115	0.695	0.53005	D	0.999962	B	0.19817	0.039	B	0.17433	0.018	T	0.36311	-0.9753	10	0.30854	T	0.27	-5.0346	13.659	0.62354	0.0:0.0:0.8328:0.1672	.	1013	Q13535	ATR_HUMAN	V	1013;949	ENSP00000343741:L1013V;ENSP00000372581:L949V	ENSP00000343741:L1013V	L	-	1	0	ATR	143751145	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.173000	0.71937	1.294000	0.44707	0.655000	0.94253	CTC		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		27	50	0	0	0	1	0	27	50				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	141	0	0	0	1	0	4	141				
NUFIP2	57532	broad.mit.edu	37	17	27620945	27620945	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:27620945G>T	ENST00000225388.4	-	1	191	c.133C>A	c.(133-135)Cac>Aac	p.H45N	NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	45	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtggtggttgtggctg	0.587																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(133-135)Cac>Aac		nuclear fragile X mental retardation protein interacting protein 2							127.0	125.0	125.0					17																	27620945		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620945G>T	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.133C>A	17.37:g.27620945G>T	ENSP00000225388:p.His45Asn					NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N	p.H45N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	191	-			45			His-rich.		A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.133C>A	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778902	0.49891	.	.	ENSG00000108256	ENST00000225388	.	.	.	5.41	5.41	0.78517	.	0.000000	0.46758	D	0.000266	T	0.24470	0.0593	N	0.08118	0	0.32353	N	0.558245	B;B	0.34226	0.238;0.443	B;B	0.30943	0.122;0.047	T	0.33777	-0.9855	9	0.45353	T	0.12	0.0249	14.6859	0.69049	0.0:0.0:1.0:0.0	.	45;45	Q7Z417;A1L3A6	NUFP2_HUMAN;.	N	45	.	ENSP00000225388:H45N	H	-	1	0	NUFIP2	24645071	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.321000	0.65846	2.539000	0.85634	0.467000	0.42956	CAC		0.587	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		6	220	1	0	0.0215528	1	0.0221353	6	220				
CCKBR	887	broad.mit.edu	37	11	6292023	6292023	+	Silent	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:6292023C>T	ENST00000334619.2	+	4	994	c.801C>T	c.(799-801)ggC>ggT	p.G267G	CCKBR_ENST00000532715.1_Silent_p.G183G|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000525462.1_Silent_p.G267G	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	267					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAAACCAAGGCGGGCTGCCAG	0.632																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(799-801)ggC>ggT		cholecystokinin B receptor	Pentagastrin(DB00183)						48.0	46.0	46.0					11																	6292023		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292023C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.801C>T	11.37:g.6292023C>T						CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Silent_p.G183G|CCKBR_ENST00000334619.2_Silent_p.G267G	p.G267G			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	804	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	218					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.801C>T	CCDS7761.1																																																																																				0.632	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		5	73	0	0	0	1	0	5	73				
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	431	0	0	0	1	0	5	431				
ANKRD17	26057	broad.mit.edu	37	4	74124146	74124146	+	Silent	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr4:74124146G>A	ENST00000358602.4	-	1	356	c.240C>T	c.(238-240)tgC>tgT	p.C80C	RP11-692D12.1_ENST00000502790.1_RNA|ANKRD17_ENST00000330838.6_Silent_p.C80C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	80					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGGGGGTCGGCAAGTCCGGT	0.692																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(238-240)tgC>tgT		ankyrin repeat domain 17							31.0	30.0	30.0					4																	74124146		2202	4300	6502	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74124146G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.240C>T	4.37:g.74124146G>A						ANKRD17_ENST00000330838.6_Silent_p.C80C	p.C80C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	356	-	Breast(15;0.000295)		80					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.240C>T	CCDS34004.1																																																																																				0.692	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		3	42	0	0	0	1	0	3	42				
CXorf22	170063	broad.mit.edu	37	X	35989984	35989984	+	Splice_Site	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:35989984A>T	ENST00000297866.5	+	13	2223		c.e13-1			NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22											breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GATTTTTTACAGGTTCTCAAA	0.323																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.e13-1		chromosome X open reading frame 22							25.0	22.0	23.0					X																	35989984		2202	4299	6501	SO:0001630	splice_region_variant	170063							g.chrX:35989984A>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2158-1A>T	X.37:g.35989984A>T								NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			13	2223	+								Q5JRM8|Q8N6X8	Splice_Site	SNP	ENST00000297866.5	37		CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	8.748	0.920564	0.17982	.	.	ENSG00000165164	ENST00000297866	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9811	0.47494	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CXorf22	35899905	0.999000	0.42202	0.219000	0.23793	0.062000	0.15995	5.293000	0.65680	1.864000	0.54056	0.486000	0.48141	.		0.323	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	Intron	13	1	0	0	0	1	0	13	1				
MAGEC3	139081	broad.mit.edu	37	X	140969464	140969464	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:140969464T>A	ENST00000298296.1	+	4	791	c.791T>A	c.(790-792)cTg>cAg	p.L264Q	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	264	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGGAGTCTGAGTGATGAG	0.478																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(790-792)cTg>cAg		melanoma antigen family C, 3							139.0	128.0	132.0					X																	140969464		2202	4300	6502	SO:0001583	missense	139081							g.chrX:140969464T>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.791T>A	X.37:g.140969464T>A	ENSP00000298296:p.Leu264Gln					MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	p.L264Q	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			4	791	+	Acute lymphoblastic leukemia(192;6.56e-05)		264			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.791T>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466113	0.26335	.	.	ENSG00000165509	ENST00000298296	T	0.06068	3.35	2.26	0.984	0.19773	.	.	.	.	.	T	0.15305	0.0369	M	0.64080	1.96	0.09310	N	1	D	0.76494	0.999	D	0.64410	0.925	T	0.12344	-1.0551	9	0.87932	D	0	.	3.9105	0.09201	0.3286:0.0:0.0:0.6713	.	264	Q8TD91	MAGC3_HUMAN	Q	264	ENSP00000298296:L264Q	ENSP00000298296:L264Q	L	+	2	0	MAGEC3	140797130	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.412000	0.21131	0.176000	0.19873	0.426000	0.28351	CTG		0.478	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		5	199	0	0	0	1	0	5	199				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	134	0	0	0	1	0	5	134				
CROCCP2	84809	broad.mit.edu	37	1	16959603	16959603	+	lincRNA	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:16959603G>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTGCAGTGACGCCTGCCTCAT	0.602																																						ENST00000412962.1																			0																																																			0							g.chr1:16959603G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959603G>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		12	94	0	0	0	1	0	12	94				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	96	0	0	0	1	0	5	96				
GALNT12	79695	broad.mit.edu	37	9	101589093	101589093	+	Missense_Mutation	SNP	C	C	A	rs372616005		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr9:101589093C>A	ENST00000375011.3	+	3	601	c.601C>A	c.(601-603)Cgc>Agc	p.R201S		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	201	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCGCCTGATCCGCGCCAACAA	0.627																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(601-603)Cgc>Agc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							39.0	37.0	37.0					9																	101589093		2203	4299	6502	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101589093C>A	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.601C>A	9.37:g.101589093C>A	ENSP00000364150:p.Arg201Ser						p.R201S	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			3	601	+		Acute lymphoblastic leukemia(62;0.0559)	201			Catalytic subdomain A.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.601C>A	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667262	0.96745	.	.	ENSG00000119514	ENST00000375011	T	0.64260	-0.09	5.96	5.96	0.96718	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.84433	2.695	0.80722	D	1	D	0.63046	0.992	P	0.57846	0.828	T	0.82131	-0.0609	10	0.87932	D	0	.	17.902	0.88907	0.0:1.0:0.0:0.0	.	201	Q8IXK2	GLT12_HUMAN	S	201	ENSP00000364150:R201S	ENSP00000364150:R201S	R	+	1	0	GALNT12	100628914	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	5.942000	0.70203	2.814000	0.96858	0.655000	0.94253	CGC		0.627	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		3	40	1	0	1	1	1	3	40				
NDFIP2	54602	broad.mit.edu	37	13	80107511	80107511	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr13:80107511A>T	ENST00000218652.7	+	3	593	c.541A>T	c.(541-543)Acc>Tcc	p.T181S		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	181					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		TAGCGTTGCTACCTCTCTTCC	0.383																																						ENST00000218652.7																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14						c.(541-543)Acc>Tcc		Nedd4 family interacting protein 2							72.0	68.0	69.0					13																	80107511		2203	4300	6503	SO:0001583	missense	54602				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding	g.chr13:80107511A>T	AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.541A>T	13.37:g.80107511A>T	ENSP00000218652:p.Thr181Ser						p.T181S	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN		GBM - Glioblastoma multiforme(99;0.0196)	3	593	+		Acute lymphoblastic leukemia(28;0.205)	181					Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	ENST00000218652.7	37	c.541A>T	CCDS31998.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924241	0.92319	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;T	0.39406	1.25;1.08	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.72894	2.215	0.58432	D	0.999999	P;P	0.52692	0.955;0.923	P;P	0.54544	0.755;0.755	T	0.57871	-0.7736	10	0.42905	T	0.14	-11.0901	14.5939	0.68392	1.0:0.0:0.0:0.0	.	87;181	B4DGY6;Q9NV92	.;NFIP2_HUMAN	S	181;98	ENSP00000218652:T181S;ENSP00000419200:T98S	ENSP00000218652:T181S	T	+	1	0	NDFIP2	79005512	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.334000	0.90028	2.101000	0.63845	0.477000	0.44152	ACC		0.383	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			35	58	0	0	0	1	0	35	58				
RABGEF1	27342	broad.mit.edu	37	7	66262494	66262494	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:66262494G>A	ENST00000284957.5	+	6	805		c.e6+1		KCTD7_ENST00000451741.2_Splice_Site|RABGEF1_ENST00000439720.2_Splice_Site|RABGEF1_ENST00000450873.2_Splice_Site|KCTD7_ENST00000380828.2_Splice_Site|KCTD7_ENST00000510829.2_Splice_Site|RABGEF1_ENST00000484547.2_Splice_Site|RABGEF1_ENST00000437078.2_Splice_Site			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAGAATCAGGTAGTTGCTTA	0.363																																						ENST00000380828.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.e8+1		potassium channel tetramerization domain containing 7							59.0	56.0	57.0					7																	66262494		2203	4300	6503	SO:0001630	splice_region_variant	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66262494G>A	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.728+1G>A	7.37:g.66262494G>A						RABGEF1_ENST00000439720.2_Splice_Site|RABGEF1_ENST00000484547.2_Splice_Site|RABGEF1_ENST00000284957.5_Splice_Site|RABGEF1_ENST00000437078.2_Splice_Site|KCTD7_ENST00000510829.2_Splice_Site|KCTD7_ENST00000451741.2_Splice_Site|RABGEF1_ENST00000450873.2_Splice_Site				Q96MP8	KCTD7_HUMAN			8	1002	+								B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Splice_Site	SNP	ENST00000284957.5	37		CCDS5535.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013187	0.75161	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7712	0.88493	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGEF1;KCTD7	65899929	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	9.386000	0.97228	2.494000	0.84150	0.551000	0.68910	.		0.363	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	Intron	4	85	0	0	0	1	0	4	85				
ESPL1	9700	broad.mit.edu	37	12	53670431	53670431	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:53670431G>T	ENST00000257934.4	+	8	1819	c.1728G>T	c.(1726-1728)tgG>tgT	p.W576C	ESPL1_ENST00000552462.1_Missense_Mutation_p.W576C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	576					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCAGTGGCTGGGACCCGGAGA	0.632																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(1726-1728)tgG>tgT		extra spindle pole bodies homolog 1 (S. cerevisiae)							18.0	18.0	18.0					12																	53670431		2198	4287	6485	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53670431G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1728G>T	12.37:g.53670431G>T	ENSP00000257934:p.Trp576Cys					ESPL1_ENST00000552462.1_Missense_Mutation_p.W576C	p.W576C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			8	1819	+			576						Missense_Mutation	SNP	ENST00000257934.4	37	c.1728G>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705563	0.48412	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12465	2.68;2.68	5.39	5.39	0.77823	.	0.244102	0.40385	N	0.001108	T	0.30262	0.0759	M	0.68317	2.08	0.45477	D	0.998448	D	0.76494	0.999	P	0.58820	0.846	T	0.00277	-1.1854	10	0.39692	T	0.17	.	14.2893	0.66265	0.0:0.1498:0.8502:0.0	.	576	Q14674	ESPL1_HUMAN	C	576;251;576	ENSP00000257934:W576C;ENSP00000449831:W576C	ENSP00000257934:W576C	W	+	3	0	ESPL1	51956698	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	1.466000	0.35310	2.808000	0.96608	0.655000	0.94253	TGG		0.632	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		17	29	1	0	4.75885e-15	1	5.47989e-15	17	29				
IFNL3	282617	broad.mit.edu	37	19	39735525	39735525	+	Missense_Mutation	SNP	C	C	T	rs629976	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:39735525C>T	ENST00000413851.2	-	1	121	c.83G>A	c.(82-84)cGc>cAc	p.R28H	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	28			R -> H (in dbSNP:rs629976).		defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GAGAGCCCCGCGGAGCCTGGC	0.612													C|||	4	0.000798722	0.0015	0.0014	5008	,	,		20143	0.001		0.0	False		,,,				2504	0.0					ENST00000413851.2																			0											c.(82-84)cGc>cAc		interferon, lambda 3		C	HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	61.0	57.0	58.0		83	-6.0	0.0	19	dbSNP_83	58	2,8598	1.2+/-3.3	0,2,4298	no	missense	IL28B	NM_172139.2	29	0,6,6497	TT,TC,CC		0.0233,0.0908,0.0461	benign	28/197	39735525	6,13000	2203	4300	6503	SO:0001583	missense	282617							g.chr19:39735525C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.83G>A	19.37:g.39735525C>T	ENSP00000409000:p.Arg28His						p.R28H	NM_172139.2	NP_742151.2					1	121	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.83G>A	CCDS12530.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	0.272	-0.992437	0.02162	9.08E-4	2.33E-4	ENSG00000197110	ENST00000413851	T	0.13901	2.55	2.99	-5.98	0.02220	.	3.404510	0.00597	N	0.000366	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21965	-1.0230	10	0.36615	T	0.2	3.6856	1.6067	0.02685	0.1265:0.2535:0.3507:0.2693	rs629976;rs2596805	28	Q8IZI9	IL28B_HUMAN	H	28	ENSP00000409000:R28H	ENSP00000409000:R28H	R	-	2	0	IL28B	44427365	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.255000	0.00265	-4.973000	0.00025	-3.554000	0.00030	CGC		0.612	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		6	158	0	0	0	1	0	6	158				
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCACTGACATCGAAGGCTGCC	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659593C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659593C>T								NR_003714.1						0	3118	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	58	0	0	0	1	0	6	58				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	51	0	0	0	1	0	3	51				
EXOC3L2	90332	broad.mit.edu	37	19	45716591	45716591	+	Silent	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45716591G>A	ENST00000252482.3	-	9	993	c.966C>T	c.(964-966)ctC>ctT	p.L322L	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000413988.1_Silent_p.L322L			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	322					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CACGGATGTCGAGGAGGGCTG	0.672																																						ENST00000413988.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(964-966)ctC>ctT		exocyst complex component 3-like 2							37.0	40.0	39.0					19																	45716591		2203	4300	6503	SO:0001819	synonymous_variant	90332							g.chr19:45716591G>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.966C>T	19.37:g.45716591G>A						EXOC3L2_ENST00000252482.3_Silent_p.L322L|AC006126.3_ENST00000591569.1_Intron	p.L322L	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	10	1006	-		all_neural(266;0.224)|Ovarian(192;0.231)	322					Q8N9W2|Q96GV2	Silent	SNP	ENST00000252482.3	37	c.966C>T	CCDS12657.1																																																																																				0.672	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		44	89	0	0	0	1	0	44	89				
SP4	6671	broad.mit.edu	37	7	21469309	21469309	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:21469309G>C	ENST00000222584.3	+	3	744	c.526G>C	c.(526-528)Ggt>Cgt	p.G176R		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	176					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GACAGTGGAAGGTCAACAAAT	0.388																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(526-528)Ggt>Cgt		Sp4 transcription factor							77.0	74.0	75.0					7																	21469309		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469309G>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.526G>C	7.37:g.21469309G>C	ENSP00000222584:p.Gly176Arg						p.G176R	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	744	+			176					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.526G>C	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324825	0.60634	.	.	ENSG00000105866	ENST00000222584	T	0.28069	1.63	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63853	-0.6543	10	0.59425	D	0.04	.	16.8705	0.86039	0.0:0.0:1.0:0.0	.	176	Q02446	SP4_HUMAN	R	176	ENSP00000222584:G176R	ENSP00000222584:G176R	G	+	1	0	SP4	21435834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.243000	0.72384	2.197000	0.70478	0.655000	0.94253	GGT		0.388	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		6	110	0	0	0	1	0	6	110				
KSR2	283455	broad.mit.edu	37	12	117922266	117922266	+	Missense_Mutation	SNP	G	G	A	rs563602140		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:117922266G>A	ENST00000339824.5	-	16	3132	c.2405C>T	c.(2404-2406)aCg>aTg	p.T802M	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.T773M			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.T834M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAAGTCCGTGATGACCAC	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19917	0.0		0.0	False		,,,				2504	0.0					ENST00000425217.1																			1	Substitution - Missense(1)	p.T834M(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2317-2319)aCg>aTg		kinase suppressor of ras 2							96.0	99.0	98.0					12																	117922266		2020	4190	6210	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117922266G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2405C>T	12.37:g.117922266G>A	ENSP00000339952:p.Thr802Met					KSR2_ENST00000339824.5_Missense_Mutation_p.T802M|KSR2_ENST00000302438.5_3'UTR	p.T773M	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			16	2372	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		802			Protein kinase.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.2318C>T		.	.	.	.	.	.	.	.	.	.	G	29.4	5.000619	0.93227	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.83419	-1.72;-1.72	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91314	0.7261	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91727	0.5393	10	0.72032	D	0.01	.	19.5084	0.95130	0.0:0.0:1.0:0.0	.	802	Q6VAB6	KSR2_HUMAN	M	773;802	ENSP00000389715:T773M;ENSP00000339952:T802M	ENSP00000339952:T802M	T	-	2	0	KSR2	116406649	1.000000	0.71417	0.965000	0.40720	0.948000	0.59901	9.837000	0.99465	2.612000	0.88384	0.655000	0.94253	ACG		0.542	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	60	0	0	0	1	0	7	60				
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338																																						ENST00000600068.1																			0																																																			0							g.chr19:53472914A>G																													19.37:g.53472914A>G						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.338	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			6	60	0	0	0	1	0	6	60				
ZNF462	58499	broad.mit.edu	37	9	109689490	109689490	+	Silent	SNP	A	A	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr9:109689490A>C	ENST00000277225.5	+	3	3586	c.3297A>C	c.(3295-3297)ccA>ccC	p.P1099P	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.P1099P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1099					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1099P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGGGTTCCCCACCCCCCCCAC	0.532																																						ENST00000277225.5																			1	Substitution - coding silent(1)	p.P1099P(1)	kidney(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3295-3297)ccA>ccC		zinc finger protein 462																																				SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689490A>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3297A>C	9.37:g.109689490A>C						ZNF462_ENST00000457913.1_Silent_p.P1099P	p.P1099P			Q96JM2	ZN462_HUMAN			3	3586	+			1099					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.3297A>C	CCDS35096.1																																																																																				0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		3	42	0	0	0	1	0	3	42				
AGO1	26523	broad.mit.edu	37	1	36381032	36381032	+	Silent	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:36381032C>T	ENST00000373204.4	+	15	2130	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	AGO1_ENST00000373206.1_Silent_p.D564D	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	639	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TCATTGAAGACTTGTCCTACA	0.547																																						ENST00000373204.4																			0											c.(1915-1917)gaC>gaT		argonaute RISC catalytic component 1							187.0	149.0	162.0					1																	36381032		2203	4300	6503	SO:0001819	synonymous_variant	26523							g.chr1:36381032C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1917C>T	1.37:g.36381032C>T						AGO1_ENST00000373206.1_Silent_p.D564D	p.D639D	NM_012199.2	NP_036331.1					15	2130	+								Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.1917C>T	CCDS398.1																																																																																				0.547	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			20	142	0	0	0	1	0	20	142				
ITPR2	3709	broad.mit.edu	37	12	26784809	26784809	+	Missense_Mutation	SNP	T	T	A	rs187811112	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:26784809T>A	ENST00000381340.3	-	22	3340	c.2924A>T	c.(2923-2925)gAg>gTg	p.E975V	ITPR2_ENST00000545902.1_5'Flank|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	975					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTGCAAAATCTCAATGATCTT	0.473																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(2923-2925)gAg>gTg		inositol 1,4,5-trisphosphate receptor, type 2							103.0	109.0	107.0					12																	26784809		2059	4193	6252	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26784809T>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2924A>T	12.37:g.26784809T>A	ENSP00000370744:p.Glu975Val					RP11-666F17.1_ENST00000414098.2_RNA	p.E975V	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			22	3340	-	Colorectal(261;0.0847)		975					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2924A>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762721	0.89932	.	.	ENSG00000123104	ENST00000381340	D	0.95447	-3.71	5.07	5.07	0.68467	.	0.098343	0.64402	D	0.000002	D	0.96830	0.8965	M	0.87180	2.865	0.80722	D	1	P	0.44521	0.837	P	0.49999	0.628	D	0.97216	0.9874	10	0.56958	D	0.05	.	14.9902	0.71381	0.0:0.0:0.0:1.0	.	975	Q14571	ITPR2_HUMAN	V	975	ENSP00000370744:E975V	ENSP00000370744:E975V	E	-	2	0	ITPR2	26676076	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.314000	0.78988	2.139000	0.66308	0.533000	0.62120	GAG		0.473	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	150	0	0	0	1	0	6	150				
FADS1	3992	broad.mit.edu	37	11	61570928	61570928	+	Silent	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:61570928G>A	ENST00000350997.7	-	9	1387	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	FADS1_ENST00000542506.1_Silent_p.F244F|FADS1_ENST00000460649.1_Silent_p.F30F|FADS1_ENST00000433932.1_Silent_p.F244F|FADS1_ENST00000536991.1_Silent_p.F76F|FADS2_ENST00000574708.1_Intron	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	328					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCTTTCCAGGAACCTGTTAG	0.478																																						ENST00000350997.7																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(1153-1155)ttC>ttT		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						185.0	182.0	183.0					11																	61570928		1963	4191	6154	SO:0001819	synonymous_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61570928G>A		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1155C>T	11.37:g.61570928G>A						FADS1_ENST00000542506.1_Silent_p.F244F|FADS1_ENST00000433932.1_Silent_p.F244F|FADS1_ENST00000460649.1_Silent_p.F30F|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000536991.1_Silent_p.F76F	p.F385F	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN			9	1387	-			328					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	c.1155C>T	CCDS8011.2																																																																																				0.478	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		10	316	0	0	0	1	0	10	316				
MEGF6	1953	broad.mit.edu	37	1	3427403	3427403	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:3427403T>C	ENST00000356575.4	-	10	1404	c.1178A>G	c.(1177-1179)tAc>tGc	p.Y393C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	393	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGCACTCGTACCCGCCAGG	0.687																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1177-1179)tAc>tGc		multiple EGF-like-domains 6							44.0	55.0	51.0					1																	3427403		2154	4245	6399	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3427403T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1178A>G	1.37:g.3427403T>C	ENSP00000348982:p.Tyr393Cys					MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C	p.Y393C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	10	1404	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	393			EGF-like 7.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1178A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.920882	0.73213	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.88664	-2.41;-2.41	4.51	4.51	0.55191	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96018	0.8703	H	0.96547	3.84	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96812	0.9597	10	0.59425	D	0.04	-45.6001	13.478	0.61320	0.0:0.0:0.0:1.0	.	393;288	O75095;O75095-2	MEGF6_HUMAN;.	C	288;393	ENSP00000294599:Y288C;ENSP00000348982:Y393C	ENSP00000294599:Y288C	Y	-	2	0	MEGF6	3417263	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	4.080000	0.57620	1.655000	0.50712	0.379000	0.24179	TAC		0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		58	79	0	0	0	1	0	58	79				
ZNF624	57547	broad.mit.edu	37	17	16525630	16525630	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:16525630A>T	ENST00000311331.7	-	6	2661	c.2570T>A	c.(2569-2571)aTa>aAa	p.I857K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	857					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTTTGATGTATTCTTTGATG	0.328																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(2569-2571)aTa>aAa		zinc finger protein 624							117.0	120.0	119.0					17																	16525630		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16525630A>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2570T>A	17.37:g.16525630A>T	ENSP00000310472:p.Ile857Lys						p.I857K	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	2661	-			857					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.2570T>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	A	7.388	0.630208	0.14257	.	.	ENSG00000197566	ENST00000311331	T	0.09073	3.02	3.21	0.972	0.19704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09113	0.0225	L	0.58510	1.815	0.34717	D	0.728311	B	0.23058	0.079	B	0.21546	0.035	T	0.07252	-1.0782	9	0.62326	D	0.03	.	6.4242	0.21760	0.774:0.0:0.226:0.0	.	857	Q9P2J8	ZN624_HUMAN	K	857	ENSP00000310472:I857K	ENSP00000310472:I857K	I	-	2	0	ZNF624	16466355	0.000000	0.05858	0.969000	0.41365	0.697000	0.40408	0.233000	0.17911	0.162000	0.19483	0.460000	0.39030	ATA		0.328	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		89	114	0	0	0	1	0	89	114				
KRTAP4-6	81871	broad.mit.edu	37	17	39296361	39296361	+	Missense_Mutation	SNP	A	A	G	rs146882220		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:39296361A>G	ENST00000345847.4	-	1	378	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	127	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CAGCACTGGGACCTGCAGCAC	0.652																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(379-381)Tcc>Ccc		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296361A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.379T>C	17.37:g.39296361A>G	ENSP00000328270:p.Ser127Pro						p.S127P	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	378	-			123			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.379T>C	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	3.733	-0.055148	0.07362	.	.	ENSG00000198090	ENST00000345847	T	0.00578	6.44	3.53	1.53	0.23141	.	.	.	.	.	T	0.00241	0.0007	N	0.00750	-1.22	0.80722	P	0.0	.	.	.	.	.	.	T	0.30001	-0.9993	6	0.02654	T	1	.	6.9259	0.24414	0.3255:0.0:0.6745:0.0	.	.	.	.	P	127	ENSP00000328270:S127P	ENSP00000328270:S127P	S	-	1	0	KRTAP4-6	36549887	0.016000	0.18221	0.000000	0.03702	0.559000	0.35586	0.236000	0.17967	-0.043000	0.13513	-0.124000	0.14976	TCC		0.652	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			9	72	0	0	0	1	0	9	72				
KRTAP5-4	387267	broad.mit.edu	37	11	1643066	1643066	+	Silent	SNP	A	A	G			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:1643066A>G	ENST00000399682.1	-	1	302	c.258T>C	c.(256-258)ggT>ggC	p.G86G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G86G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAAG	0.667																																						ENST00000399682.1																			1	Substitution - coding silent(1)	p.G86G(1)	endometrium(1)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(256-258)ggT>ggC		keratin associated protein 5-4							9.0	15.0	13.0					11																	1643066		683	1577	2260	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643066A>G	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.258T>C	11.37:g.1643066A>G							p.G86G	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	302	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	86			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.258T>C																																																																																					0.667	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		7	186	0	0	0	1	0	7	186				
MSLNL	401827	broad.mit.edu	37	16	824957	824957	+	Missense_Mutation	SNP	C	C	T	rs369732940		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr16:824957C>T	ENST00000442466.1	-	6	561	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	MSLNL_ENST00000293892.3_Missense_Mutation_p.A539T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	188					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ATGCTGGACGCGTCCATGTCA	0.716																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(1615-1617)Gcg>Acg		mesothelin-like			THR/ALA	0,4124		0,0,2062	21.0	24.0	23.0		1615	2.0	0.3	16		23	1,8337		0,1,4168	no	missense	MSLNL	NM_001025190.1	58	0,1,6230	TT,TC,CC		0.012,0.0,0.0080	possibly-damaging	539/1054	824957	1,12461	2062	4169	6231	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:824957C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.562G>A	16.37:g.824957C>T	ENSP00000415767:p.Ala188Thr					MSLNL_ENST00000442466.1_Missense_Mutation_p.A188T	p.A539T			Q96KJ4	MSLNL_HUMAN			7	1614	-			188						Missense_Mutation	SNP	ENST00000442466.1	37	c.1615G>A		.	.	.	.	.	.	.	.	.	.	c	13.61	2.287377	0.40494	0.0	1.2E-4	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.11495	2.77;2.77;2.77	4.1	1.95	0.26073	.	0.416661	0.22018	N	0.065766	T	0.12689	0.0308	.	.	.	0.21579	N	0.999639	P	0.44521	0.837	P	0.45037	0.467	T	0.08046	-1.0741	9	0.51188	T	0.08	-14.1409	10.8934	0.47008	0.0:0.4533:0.5466:0.0	.	188	Q96KJ4	MSLNL_HUMAN	T	238;188;539	ENSP00000441381:A238T;ENSP00000415767:A188T;ENSP00000293892:A539T	ENSP00000293892:A539T	A	-	1	0	MSLNL	764958	0.004000	0.15560	0.268000	0.24571	0.209000	0.24338	0.638000	0.24674	0.908000	0.36671	-0.342000	0.07992	GCG		0.716	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		18	91	0	0	0	1	0	18	91				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	89	0	0	0	1	0	4	89				
BRWD1	54014	broad.mit.edu	37	21	40668280	40668280	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr21:40668280T>C	ENST00000333229.2	-	6	686	c.359A>G	c.(358-360)cAc>cGc	p.H120R	BRWD1_ENST00000380800.3_Missense_Mutation_p.H120R|BRWD1_ENST00000470108.1_5'Flank|BRWD1_ENST00000342449.3_Missense_Mutation_p.H120R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	120					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCAAACTGTGTGCCTGCAGTC	0.368																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(358-360)cAc>cGc		bromodomain and WD repeat domain containing 1							89.0	91.0	91.0					21																	40668280		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40668280T>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.359A>G	21.37:g.40668280T>C	ENSP00000330753:p.His120Arg					BRWD1_ENST00000380800.3_Missense_Mutation_p.H120R|BRWD1_ENST00000333229.2_Missense_Mutation_p.H120R	p.H120R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			6	437	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	120					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.359A>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891130	0.33348	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.16457	2.34;2.34;2.34	5.94	5.94	0.96194	.	0.133086	0.50627	D	0.000111	T	0.14657	0.0354	L	0.27053	0.805	0.80722	D	1	P;B	0.39862	0.692;0.031	B;B	0.39339	0.297;0.006	T	0.09487	-1.0672	10	0.21540	T	0.41	-7.5662	16.4075	0.83691	0.0:0.0:0.0:1.0	.	120;120	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	R	120	ENSP00000330753:H120R;ENSP00000344333:H120R;ENSP00000370178:H120R	ENSP00000330753:H120R	H	-	2	0	BRWD1	39590150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.983000	0.49345	2.275000	0.75901	0.528000	0.53228	CAC		0.368	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		83	88	0	0	0	1	0	83	88				
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding. {ECO:0000255}.				angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627																																						ENST00000259241.6																			2	Substitution - Nonsense(2)	p.R185*(2)	prostate(1)|pancreas(1)	endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(553-555)Cga>Tga		heparan sulfate 6-O-sulfotransferase 1																																				SO:0001587	stop_gained	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026419G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.553C>T	2.37:g.129026419G>A	ENSP00000259241:p.Arg185*						p.R185*	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	566	-	Colorectal(110;0.1)		185			3'-phosphate binding (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Nonsense_Mutation	SNP	ENST00000259241.6	37	c.553C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065652	0.76187	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.85	2.8	0.32819	.	0.051973	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.284	0.49212	0.0:0.0:0.3759:0.6241	.	.	.	.	X	185	.	.	R	-	1	2	HS6ST1	128742889	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	1.846000	0.39289	1.015000	0.39444	0.462000	0.41574	CGA		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		4	87	0	0	0	1	0	4	87				
USP41	373856	broad.mit.edu	37	22	20724427	20724427	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:20724427T>C	ENST00000454608.2	-	7	462	c.463A>G	c.(463-465)Atc>Gtc	p.I155V	USP41_ENST00000486536.2_5'UTR			Q3LFD5	UBP41_HUMAN	ubiquitin specific peptidase 41	155	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(1)|kidney(1)|lung(2)|skin(1)	5						ACATCAGCGATCTGGTCCTTA	0.468																																						ENST00000454608.2																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(463-465)Atc>Gtc		ubiquitin specific peptidase 41																																				SO:0001583	missense	373856							g.chr22:20724427T>C	AJ586979		22q11.22	2011-01-31	2005-08-08		ENSG00000161133	ENSG00000161133		"""Ubiquitin-specific peptidases"""	20070	protein-coding gene	gene with protein product			"""ubiquitin specific protease 41"""			12838346	Standard	XM_006710116		Approved		uc011ahq.1	Q3LFD5	OTTHUMG00000151317	ENST00000454608.2:c.463A>G	22.37:g.20724427T>C	ENSP00000414922:p.Ile155Val					USP41_ENST00000486536.2_5'UTR	p.I155V							7	462	-								A8MXD0|Q70BM7	Missense_Mutation	SNP	ENST00000454608.2	37	c.463A>G		.	.	.	.	.	.	.	.	.	.	N	7.462	0.644977	0.14451	.	.	ENSG00000161133	ENST00000454608	T	0.05382	3.45	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.215610	0.47455	D	0.000221	T	0.12050	0.0293	L	0.54323	1.7	.	.	.	D	0.58620	0.983	P	0.55577	0.779	T	0.10497	-1.0627	7	0.62326	D	0.03	.	.	.	.	.	155	Q3LFD5	UBP41_HUMAN	V	155	ENSP00000414922:I155V	ENSP00000414922:I155V	I	-	1	0	USP41	19054427	0.917000	0.31117	0.148000	0.22405	0.150000	0.21749	1.682000	0.37628	0.229000	0.21039	0.227000	0.17789	ATC		0.468	USP41-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		XM_036729		4	199	0	0	0	1	0	4	199				
RBM12	10137	broad.mit.edu	37	20	34242285	34242285	+	Silent	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr20:34242285G>C	ENST00000374114.3	-	3	1223	c.960C>G	c.(958-960)gtC>gtG	p.V320V	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Silent_p.V320V|CPNE1_ENST00000317619.3_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.V320V	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	320	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AAAAATCTCTGACATCATTTT	0.438																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(958-960)gtC>gtG		RNA binding motif protein 12							94.0	93.0	93.0					20																	34242285		2203	4300	6503	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242285G>C	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.960C>G	20.37:g.34242285G>C						CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Silent_p.V320V|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Silent_p.V320V|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron	p.V320V	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	1223	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		320			RRM 1.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.960C>G	CCDS13261.1																																																																																				0.438	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		4	153	0	0	0	1	0	4	153				
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672																																						ENST00000391413.2																			2	Substitution - Missense(2)	p.S48R(2)	lung(1)|endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(142-144)agC>agG		keratin associated protein 4-11							11.0	16.0	14.0					17																	39274424		687	1589	2276	SO:0001583	missense	653240					keratin filament		g.chr17:39274424G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.144C>G	17.37:g.39274424G>C	ENSP00000375232:p.Ser48Arg						p.S48R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	182	-		Breast(137;0.000496)	48		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.144C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262143	0.39995	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	3.91	0.45181	.	0.663392	0.11138	N	0.595595	T	0.06826	0.0174	M	0.91717	3.235	0.27842	N	0.941075	B	0.21606	0.058	B	0.25614	0.062	T	0.08310	-1.0728	10	0.66056	D	0.02	.	7.305	0.26443	0.1194:0.0:0.8806:0.0	.	48	Q9BYQ6	KR411_HUMAN	R	48	ENSP00000375232:S48R	ENSP00000375232:S48R	S	-	3	2	KRTAP4-11	36527950	0.739000	0.28196	0.990000	0.47175	0.119000	0.20118	0.787000	0.26858	2.015000	0.59207	0.609000	0.83330	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			8	145	0	0	0	1	0	8	145				
SLC5A1	6523	broad.mit.edu	37	22	32482250	32482250	+	Silent	SNP	C	C	T	rs199702272		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:32482250C>T	ENST00000266088.4	+	10	1315	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	SLC5A1_ENST00000543737.1_Silent_p.C228C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	355					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AGAAATATTGCGGTACCAAGG	0.468																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1063-1065)tgC>tgT		solute carrier family 5 (sodium/glucose cotransporter), member 1							192.0	166.0	175.0					22																	32482250		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32482250C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1065C>T	22.37:g.32482250C>T						SLC5A1_ENST00000543737.1_Silent_p.C228C	p.C355C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			10	1315	+			355					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1065C>T	CCDS13902.1																																																																																				0.468	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		4	263	0	0	0	1	0	4	263				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		6	114	0	0	0	1	0	6	114				
C8orf34	116328	broad.mit.edu	37	8	69434071	69434071	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr8:69434071G>A	ENST00000539993.1	+	6	1094	c.545G>A	c.(544-546)cGt>cAt	p.R182H	C8orf34_ENST00000337103.4_Missense_Mutation_p.R157H|C8orf34_ENST00000518698.1_Missense_Mutation_p.R268H|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.R182H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	182								p.R157H(1)|p.R182H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTGAGGCCCCGTGTGATTGGA	0.413																																						ENST00000337103.4																			2	Substitution - Missense(2)	p.R157H(1)|p.R182H(1)	endometrium(2)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(469-471)cGt>cAt		chromosome 8 open reading frame 34							87.0	84.0	85.0					8																	69434071		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69434071G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.545G>A	8.37:g.69434071G>A	ENSP00000438159:p.Arg182His					C8orf34_ENST00000518698.1_Missense_Mutation_p.R268H|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.R182H|C8orf34_ENST00000539993.1_Missense_Mutation_p.R182H	p.R157H			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		5	2062	+			182					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.470G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.072284	0.93950	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.51817	0.69;0.73;0.71	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	L	0.57536	1.79	0.45867	D	0.998728	D;D	0.89917	1.0;1.0	D;D	0.83275	0.938;0.996	T	0.63418	-0.6642	9	.	.	.	-11.9929	19.6482	0.95790	0.0:0.0:1.0:0.0	.	182;182	Q49A92;Q49A92-3	CH034_HUMAN;.	H	268;182;182;157	ENSP00000427820:R268H;ENSP00000438159:R182H;ENSP00000337174:R157H	.	R	+	2	0	C8orf34	69596625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.365000	0.90108	2.696000	0.92011	0.655000	0.94253	CGT		0.413	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		28	44	0	0	0	1	0	28	44				
PKDREJ	10343	broad.mit.edu	37	22	46658226	46658226	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:46658226C>T	ENST00000253255.5	-	1	993	c.994G>A	c.(994-996)Gtc>Atc	p.V332I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	332	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAACTCCTGACGATCCAGACA	0.547																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(994-996)Gtc>Atc		polycystin (PKD) family receptor for egg jelly							125.0	133.0	131.0					22																	46658226		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658226C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.994G>A	22.37:g.46658226C>T	ENSP00000253255:p.Val332Ile						p.V332I	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	993	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	332			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.994G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562384	0.27915	.	.	ENSG00000130943	ENST00000253255	T	0.70045	-0.45	4.78	-9.57	0.00562	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	4.250190	0.00819	N	0.001575	T	0.42720	0.1215	L	0.34521	1.04	0.09310	N	1	B	0.31026	0.304	B	0.20384	0.029	T	0.32771	-0.9894	10	0.33141	T	0.24	2.3754	0.5519	0.00664	0.2901:0.179:0.2873:0.2435	.	332	Q9NTG1	PKDRE_HUMAN	I	332	ENSP00000253255:V332I	ENSP00000253255:V332I	V	-	1	0	PKDREJ	45036890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.172000	0.01266	-2.267000	0.00686	-0.199000	0.12753	GTC		0.547	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		7	372	0	0	0	1	0	7	372				
CEACAM20	125931	broad.mit.edu	37	19	45028102	45028102	+	RNA	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45028102C>T	ENST00000454753.1	-	0	667							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGAGTCCTCCCGCTGGACAAT	0.527																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							68.0	68.0	68.0					19																	45028102		2079	4228	6307			125931					integral to membrane		g.chr19:45028102C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45028102C>T										Q6UY09	CEA20_HUMAN			0	667	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.527	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		3	6	0	0	0	1	0	3	6				
MYOF	26509	broad.mit.edu	37	10	95121253	95121253	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:95121253T>C	ENST00000359263.4	-	28	2929	c.2930A>G	c.(2929-2931)gAt>gGt	p.D977G	MYOF_ENST00000371501.4_Missense_Mutation_p.D977G|MYOF_ENST00000358334.5_Missense_Mutation_p.D964G|MYOF_ENST00000371502.4_Missense_Mutation_p.D977G	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	977					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCATGCATCATCTTCCCATTC	0.458																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2929-2931)gAt>gGt		myoferlin							207.0	204.0	205.0					10																	95121253		2011	4190	6201	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95121253T>C	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2930A>G	10.37:g.95121253T>C	ENSP00000352208:p.Asp977Gly					MYOF_ENST00000359263.4_Missense_Mutation_p.D977G|MYOF_ENST00000371502.4_Missense_Mutation_p.D977G|MYOF_ENST00000358334.5_Missense_Mutation_p.D964G	p.D977G			Q9NZM1	MYOF_HUMAN			28	3052	-			977					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.2930A>G	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111814	0.77210	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83250	-1.7;-1.69;-1.69;-1.69	5.81	5.81	0.92471	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.88160	0.6362	L	0.45698	1.435	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.997;0.999	D	0.87031	0.2135	10	0.36615	T	0.2	-24.3735	16.1773	0.81862	0.0:0.0:0.0:1.0	.	964;977	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	G	964;977;977;977	ENSP00000351094:D964G;ENSP00000352208:D977G;ENSP00000360556:D977G;ENSP00000360557:D977G	ENSP00000351094:D964G	D	-	2	0	MYOF	95111243	1.000000	0.71417	0.991000	0.47740	0.552000	0.35366	7.683000	0.84093	2.217000	0.71921	0.482000	0.46254	GAT		0.458	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		73	107	0	0	0	1	0	73	107				
TNXB	7148	broad.mit.edu	37	6	32021216	32021216	+	Missense_Mutation	SNP	C	C	A	rs200708257	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:32021216C>A	ENST00000375244.3	-	25	8941	c.8740G>T	c.(8740-8742)Ggc>Tgc	p.G2914C	TNXB_ENST00000375247.2_Missense_Mutation_p.G2912C			P22105	TENX_HUMAN	tenascin XB	2961	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTGGAAGCCGTACAGGTTC	0.657																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8740-8742)Ggc>Tgc		tenascin XB							48.0	50.0	49.0					6																	32021216		1244	2559	3803	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32021216C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8740G>T	6.37:g.32021216C>A	ENSP00000364393:p.Gly2914Cys					TNXB_ENST00000375247.2_Missense_Mutation_p.G2912C	p.G2914C			P22105	TENX_HUMAN			25	8941	-			2961			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8740G>T		.	.	.	.	.	.	.	.	.	.	c	19.54	3.847474	0.71603	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57595	0.39;0.39	4.39	4.39	0.52855	.	.	.	.	.	T	0.75810	0.3900	H	0.95816	3.725	0.37252	D	0.906608	D	0.89917	1.0	D	0.97110	1.0	D	0.84426	0.0574	9	0.87932	D	0	.	13.8893	0.63729	0.0:1.0:0.0:0.0	.	2912	P22105-3	.	C	2914;2912	ENSP00000364393:G2914C;ENSP00000364396:G2912C	ENSP00000364393:G2914C	G	-	1	0	TNXB	32129194	0.961000	0.32948	0.989000	0.46669	0.827000	0.46813	5.079000	0.64431	1.989000	0.58080	0.543000	0.68304	GGC		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	97	1	0	0.00909568	1	0.00946948	4	97				
LAMA4	3910	broad.mit.edu	37	6	112479970	112479970	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:112479970G>T	ENST00000230538.7	-	14	2178	c.1781C>A	c.(1780-1782)gCa>gAa	p.A594E	RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.A587E|LAMA4_ENST00000389463.4_Missense_Mutation_p.A587E|LAMA4_ENST00000522006.1_Missense_Mutation_p.A587E|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	594	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAGGTCCTGTGCATGGTCAAT	0.343																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1780-1782)gCa>gAa		laminin, alpha 4							203.0	184.0	190.0					6																	112479970		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112479970G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1781C>A	6.37:g.112479970G>T	ENSP00000230538:p.Ala594Glu					RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.A587E|LAMA4_ENST00000522006.1_Missense_Mutation_p.A587E|LAMA4_ENST00000389463.4_Missense_Mutation_p.A587E	p.A594E	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	14	2178	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	594			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1781C>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358164	0.82243	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.56444	0.5;0.46;0.46;0.46	5.68	5.68	0.88126	.	0.096863	0.64402	D	0.000001	T	0.54759	0.1878	L	0.59436	1.845	0.80722	D	1	P;D	0.53462	0.933;0.96	P;P	0.52856	0.518;0.711	T	0.59418	-0.7458	10	0.87932	D	0	.	16.695	0.85333	0.0:0.0:1.0:0.0	.	594;587	Q16363;Q16363-2	LAMA4_HUMAN;.	E	594;587;587;587	ENSP00000230538:A594E;ENSP00000429488:A587E;ENSP00000374114:A587E;ENSP00000416470:A587E	ENSP00000230538:A594E	A	-	2	0	LAMA4	112586663	1.000000	0.71417	0.958000	0.39756	0.709000	0.40893	5.650000	0.67944	2.668000	0.90789	0.591000	0.81541	GCA		0.343	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		45	74	1	0	1.57945e-13	1	1.79162e-13	45	74				
LOC100129620	100129620	broad.mit.edu	37	1	99474094	99474094	+	RNA	DEL	A	A	-	rs531849287|rs57656522	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:99474094delA	ENST00000425113.1	+	0	370					NR_033940.1																						AACAGCAACTAAAAAAAAAAA	0.353													|||unknown(HR)	1745	0.348442	0.32	0.3112	5008	,	,		17655	0.4415		0.3608	False		,,,				2504	0.3047					ENST00000425113.1																			0																																																			0							g.chr1:99474094delA																													1.37:g.99474094delA								NR_033940.1						0	370	+									RNA	DEL	ENST00000425113.1	37																																																																																						0.353	RP5-896L10.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000029675.2			4	9						4	9	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		8	45						8	45	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	lincRNA	DEL	G	G	-	rs373784983|rs377731020		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303																																						ENST00000377977.3																			0																																																			0							g.chr2:65738863delG																													2.37:g.65738863delG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.303	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			3	3						3	3	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50004962	50004962	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:50004962delT	ENST00000266022.4	+	3	363	c.104delT	c.(103-105)cttfs	p.L35fs	RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	35					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCTCCTCCCCTTAAGAGTCAT	0.483																																						ENST00000266022.4																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(103-105)ctfs		RNA binding motif protein 6							100.0	105.0	103.0					3																	50004962		2203	4300	6503	SO:0001589	frameshift_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50004962delT	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.104delT	3.37:g.50004962delT	ENSP00000266022:p.Leu35fs					RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron	p.L35fs	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	363	+			35					O60549|O75524|Q86SS3	Frame_Shift_Del	DEL	ENST00000266022.4	37	c.104delT	CCDS2809.1																																																																																				0.483	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		72	107						72	107	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		7	7						7	7	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523273	32523274	+	RNA	DEL	GA	GA	-	rs142054686		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:32523273_32523274delGA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ATTCCACTGTGAGAGGGCTCAT	0.396																																						ENST00000411500.1																			0																																																			0							g.chr6:32523273_32523274delGA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523275_32523276delGA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.396	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		7	28						7	28	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1108-1110)ttfs		peroxisomal biogenesis factor 1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron	p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1203	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		9	247						9	247	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29773738	29773738	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:29773738delC	ENST00000355867.4	-	27	5554	c.4802delG	c.(4801-4803)agtfs	p.S1601fs	SVIL_ENST00000538146.1_Frame_Shift_Del_p.S393fs|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Del_p.S515fs|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Frame_Shift_Del_p.S1601fs|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Frame_Shift_Del_p.S1175fs	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1601	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTAAACTTCACTACCAAAATC	0.403																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4801-4803)atfs		supervillin							104.0	91.0	95.0					10																	29773738		2203	4300	6503	SO:0001589	frameshift_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29773738delC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4802delG	10.37:g.29773738delC	ENSP00000348128:p.Ser1601fs					SVIL_ENST00000375400.3_Frame_Shift_Del_p.S1175fs|SVIL_ENST00000535393.1_Frame_Shift_Del_p.S515fs|SVIL_ENST00000355867.4_Frame_Shift_Del_p.S1601fs|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Frame_Shift_Del_p.S393fs	p.S1601fs			O95425	SVIL_HUMAN			29	5251	-		Breast(68;0.103)	1601			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Del	DEL	ENST00000355867.4	37	c.4802delG	CCDS7164.1																																																																																				0.403	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			37	62						37	62	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		10	86						10	86	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_ENST00000542837.1_In_Frame_Del_p.E466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.E173del|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2128-2133)gac>ga		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001651	inframe_deletion	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935681_47935683delTCC	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2130_2132delGGA	19.37:g.47935690_47935692delTCC	ENSP00000236877:p.Glu710del					SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del	p.ED710del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2525_2527	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	710					B4DYQ9	In_Frame_Del	DEL	ENST00000236877.6	37	c.2130_2132delGGA	CCDS33065.1																																																																																				0.616	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			9	221						9	221	---	---	---	---
