#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
LINC00957	255031	broad.mit.edu	37	7	44080367	44080367	+	lincRNA	SNP	A	A	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:44080367A>G	ENST00000441052.1	+	0	1052				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		GCAGCCCGGAACACCTGCGTG	0.721																																						ENST00000441052.1																			0																																																			0							g.chr7:44080367A>G	BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44080367A>G														0	1052	+									RNA	SNP	ENST00000441052.1	37																																																																																						0.721	LINC00957-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339589.1			4	44	0	0	0	1	0	4	44				
ZC3H7B	23264	broad.mit.edu	37	22	41742053	41742053	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:41742053C>T	ENST00000352645.4	+	14	1763	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	ZC3H7B_ENST00000351589.4_Silent_p.F502F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	518					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACTGCACCTTCGCCTACCATC	0.607																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1504-1506)ttC>ttT		zinc finger CCCH-type containing 7B							197.0	167.0	177.0					22																	41742053		2203	4300	6503	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41742053C>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1506C>T	22.37:g.41742053C>T						ZC3H7B_ENST00000351589.4_Silent_p.F502F	p.F502F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			14	1763	+			518					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.1506C>T	CCDS14013.1																																																																																				0.607	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		32	988	0	0	0	1	0	32	988				
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	516	1	0	1.05317e-09	1	1.11482e-09	7	516				
SUSD4	55061	broad.mit.edu	37	1	223465880	223465880	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:223465880C>T	ENST00000343846.3	-	2	895	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SUSD4_ENST00000494793.2_Missense_Mutation_p.G88R|SUSD4_ENST00000344029.6_Missense_Mutation_p.G88R|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G88R|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	88	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCTTGAATCCGTCTTGGCAG	0.512																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(262-264)Gga>Aga		sushi domain containing 4							119.0	124.0	122.0					1																	223465880		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223465880C>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.262G>A	1.37:g.223465880C>T	ENSP00000344219:p.Gly88Arg					SUSD4_ENST00000344029.6_Missense_Mutation_p.G88R|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G88R	p.G88R			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	895	-			88			Sushi 1.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.262G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685607	0.88639	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.76709	-1.04;-1.04;-1.04	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.46442	D	0.000285	D	0.88742	0.6519	M	0.78344	2.41	0.80722	D	1	D;P	0.89917	1.0;0.952	D;B	0.97110	1.0;0.411	D	0.89846	0.4006	10	0.87932	D	0	-7.532	19.0844	0.93198	0.0:1.0:0.0:0.0	.	88;88	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	R	88	ENSP00000344219:G88R;ENSP00000355843:G88R;ENSP00000339926:G88R	ENSP00000271787:G88R	G	-	1	0	SUSD4	221532503	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.685000	0.68204	2.506000	0.84524	0.561000	0.74099	GGA		0.512	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		135	427	0	0	0	1	0	135	427				
PAQR4	124222	broad.mit.edu	37	16	3021758	3021758	+	Missense_Mutation	SNP	G	G	A	rs200076772		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3021758G>A	ENST00000318782.8	+	3	1061	c.631G>A	c.(631-633)Gca>Aca	p.A211T	PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Missense_Mutation_p.A172T|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.A137T|PAQR4_ENST00000574988.1_Missense_Mutation_p.A144T|PAQR4_ENST00000576565.1_Missense_Mutation_p.A144T	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	211						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GCGCATGGACGCACTGGCGCT	0.657																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(631-633)Gca>Aca		progestin and adipoQ receptor family member IV							46.0	50.0	48.0					16																	3021758		2197	4300	6497	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3021758G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.631G>A	16.37:g.3021758G>A	ENSP00000321804:p.Ala211Thr					PAQR4_ENST00000576565.1_Missense_Mutation_p.A144T|PAQR4_ENST00000293978.8_Missense_Mutation_p.A172T|PAQR4_ENST00000574988.1_Missense_Mutation_p.A144T|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.A137T	p.A211T	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			3	1061	+			211					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.631G>A	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	g	11.42	1.633267	0.29068	.	.	ENSG00000162073	ENST00000318782;ENST00000293978	T;T	0.30714	1.52;1.53	4.81	4.81	0.61882	.	0.062180	0.64402	D	0.000007	T	0.38639	0.1048	M	0.64080	1.96	0.37162	D	0.902642	D;P;P	0.56521	0.976;0.78;0.919	P;B;B	0.48840	0.592;0.187;0.37	T	0.41088	-0.9528	10	0.23302	T	0.38	-10.4425	15.3988	0.74818	0.0:0.0:1.0:0.0	.	136;172;211	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	T	211;137	ENSP00000321804:A211T;ENSP00000293978:A137T	ENSP00000293978:A137T	A	+	1	0	PAQR4	2961759	0.995000	0.38212	0.120000	0.21714	0.698000	0.40448	3.970000	0.56824	2.220000	0.72140	0.457000	0.33378	GCA		0.657	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		5	368	0	0	0	1	0	5	368				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	0							g.chr20:29614328G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	6	109	0	0	0	1	0	6	109				
LRRC10	376132	broad.mit.edu	37	12	70003865	70003865	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:70003865C>T	ENST00000361484.3	-	1	1077	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	252					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TAGCGCCTGGCTTTTCTAGGG	0.582																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(754-756)Gcc>Acc		leucine rich repeat containing 10							100.0	83.0	88.0					12																	70003865		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70003865C>T	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.754G>A	12.37:g.70003865C>T	ENSP00000355166:p.Ala252Thr						p.A252T	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	1077	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		252					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.754G>A	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599545	0.28534	.	.	ENSG00000198812	ENST00000361484	T	0.58060	0.36	5.63	2.59	0.31030	.	0.485815	0.21421	N	0.074802	T	0.30135	0.0755	N	0.16478	0.41	0.27690	N	0.94614	B	0.06786	0.001	B	0.04013	0.001	T	0.14227	-1.0480	10	0.17832	T	0.49	.	7.034	0.24983	0.0:0.5914:0.1946:0.214	.	252	Q5BKY1	LRC10_HUMAN	T	252	ENSP00000355166:A252T	ENSP00000355166:A252T	A	-	1	0	LRRC10	68290132	0.993000	0.37304	0.998000	0.56505	0.930000	0.56654	1.083000	0.30815	0.823000	0.34589	0.561000	0.74099	GCC		0.582	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		95	295	0	0	0	1	0	95	295				
UGT1A9	54600	broad.mit.edu	37	2	234580748	234580748	+	Silent	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:234580748T>C	ENST00000354728.4	+	1	250	c.168T>C	c.(166-168)gtT>gtC	p.V56V	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Silent_p.V56V|UGT1A1_ENST00000373450.4_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	56					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.V56V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	ATGAGGTGGTTGTAGTCATGC	0.532																																						ENST00000354728.4																			1	Substitution - coding silent(1)	p.V56V(1)	kidney(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(166-168)gtT>gtC									100.0	85.0	90.0					2																	234580748		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234580748T>C	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.168T>C	2.37:g.234580748T>C						UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	p.V56V	NM_021027.2	NP_066307.1				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	250	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)						B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	37	c.168T>C	CCDS2505.1																																																																																				0.532	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		6	375	0	0	0	1	0	6	375				
LTBP2	4053	broad.mit.edu	37	14	74988701	74988701	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74988701G>A	ENST00000261978.4	-	17	3087	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	LTBP2_ENST00000556690.1_Missense_Mutation_p.R901C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	901	Cys-rich.|EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTGATGCAGCGCCCTTTTCCC	0.622																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2701-2703)Cgc>Tgc		latent transforming growth factor beta binding protein 2							78.0	70.0	73.0					14																	74988701		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74988701G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2701C>T	14.37:g.74988701G>A	ENSP00000261978:p.Arg901Cys					LTBP2_ENST00000556690.1_Missense_Mutation_p.R901C	p.R901C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	17	3087	-			901			Cys-rich.|EGF-like 5; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2701C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840149	0.71488	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.22336	1.96;1.96	3.99	3.99	0.46301	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.184414	0.26525	N	0.023890	T	0.47710	0.1460	M	0.86864	2.845	0.50467	D	0.999877	D	0.76494	0.999	P	0.62740	0.906	T	0.55970	-0.8056	10	0.52906	T	0.07	.	13.9681	0.64221	0.0:0.0:1.0:0.0	.	901	Q14767	LTBP2_HUMAN	C	901	ENSP00000261978:R901C;ENSP00000451477:R901C	ENSP00000261978:R901C	R	-	1	0	LTBP2	74058454	0.999000	0.42202	0.944000	0.38274	0.649000	0.38597	7.347000	0.79356	2.214000	0.71695	0.462000	0.41574	CGC		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		14	134	0	0	0	1	0	14	134				
GGT1	2678	broad.mit.edu	37	22	24982154	24982154	+	Intron	SNP	G	G	A	rs200740419		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:24982154G>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Silent_p.N216N|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GTCGGTTGCCGTTGAGCAGGA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18370	0.001		0.0	False		,,,				2504	0.0					ENST00000318753.8																			0											c.(646-648)aaC>aaT		family with sequence similarity 211, member B							75.0	88.0	84.0					22																	24982154		2152	4258	6410	SO:0001627	intron_variant	388886							g.chr22:24982154G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2378G>A	22.37:g.24982154G>A						GGT1_ENST00000248923.4_Intron	p.N216N	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			4	671	-			216					Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000248923.4	37	c.648C>T	CCDS42992.1																																																																																				0.652	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		8	547	0	0	0	1	0	8	547				
TRIOBP	11078	broad.mit.edu	37	22	38120006	38120006	+	Silent	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:38120006T>C	ENST00000406386.3	+	7	1698	c.1443T>C	c.(1441-1443)tgT>tgC	p.C481C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	481					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C481C(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGTGCCCAGCGGG	0.592																																						ENST00000406386.3																			3	Substitution - coding silent(3)	p.C481C(3)	kidney(2)|large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1441-1443)tgT>tgC		TRIO and F-actin binding protein							52.0	51.0	51.0					22																	38120006		1899	4072	5971	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120006T>C	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1443T>C	22.37:g.38120006T>C						RP1-37E16.12_ENST00000455236.1_RNA	p.C481C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1698	+	Melanoma(58;0.0574)		481					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1443T>C	CCDS43015.1																																																																																				0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			10	955	0	0	0	1	0	10	955				
WBSCR17	64409	broad.mit.edu	37	7	70853388	70853388	+	Splice_Site	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:70853388G>T	ENST00000333538.5	+	3	1223		c.e3+1		WBSCR17_ENST00000498380.2_Splice_Site	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17						protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGCGACGAAGGTACAGGGGTG	0.582																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.e3+1		Williams-Beuren syndrome chromosome region 17							104.0	75.0	85.0					7																	70853388		2203	4300	6503	SO:0001630	splice_region_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70853388G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.589+1G>T	7.37:g.70853388G>T						WBSCR17_ENST00000498380.2_Splice_Site		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			3	1223	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)						Q8NFV9|Q9NTA8	Splice_Site	SNP	ENST00000333538.5	37		CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379837	0.42207	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9334	0.92576	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WBSCR17	70491324	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.588000	0.98232	2.782000	0.95742	0.655000	0.94253	.		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	Intron	5	213	1	0	1.024e-07	1	1.07347e-07	5	213				
CHD7	55636	broad.mit.edu	37	8	61654852	61654852	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:61654852G>A	ENST00000423902.2	+	2	1340	c.861G>A	c.(859-861)ccG>ccA	p.P287P	CHD7_ENST00000525508.1_Silent_p.P287P|CHD7_ENST00000524602.1_Silent_p.P287P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	287					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P287P(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTGTTAGGCCGCAAACCCTTA	0.512																																						ENST00000423902.2																			2	Substitution - coding silent(2)	p.P287P(2)	lung(2)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(859-861)ccG>ccA		chromodomain helicase DNA binding protein 7							96.0	96.0	96.0					8																	61654852		1909	4121	6030	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654852G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.861G>A	8.37:g.61654852G>A						CHD7_ENST00000525508.1_Silent_p.P287P|CHD7_ENST00000524602.1_Silent_p.P287P	p.P287P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1340	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	287					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.861G>A	CCDS47865.1																																																																																				0.512	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	619	0	0	0	1	0	6	619				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	581	0	0	0	1	0	6	581				
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTGCTCCACTGCCTCCATCC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0					ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(373-375)acT>acC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						52.0	50.0	50.0					4																	9784028		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784028T>C	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.375T>C	4.37:g.9784028T>C							p.T125T	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	771	+			125					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.375T>C	CCDS3405.1																																																																																				0.622	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			6	183	0	0	0	1	0	6	183				
IGHG2	3501	broad.mit.edu	37	14	106110177	106110177	+	RNA	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:106110177G>C	ENST00000390545.2	-	0	440							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGGGGTCTTCGTGGCTCACGT	0.602																																						ENST00000390545.2																			0																				156.0	138.0	144.0					14																	106110177		2143	4239	6382			0							g.chr14:106110177G>C	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110177G>C														0	440	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.602	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		5	674	0	0	0	1	0	5	674				
RFTN1	23180	broad.mit.edu	37	3	16475456	16475456	+	Silent	SNP	C	C	T	rs144679139		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:16475456C>T	ENST00000334133.4	-	3	506	c.234G>A	c.(232-234)tcG>tcA	p.S78S	RFTN1_ENST00000432519.1_Silent_p.S42S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	78					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGGCCGCCAGCGAGAAGCCCT	0.647																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(232-234)tcG>tcA		raftlin, lipid raft linker 1							50.0	56.0	54.0					3																	16475456		2203	4300	6503	SO:0001819	synonymous_variant	23180					plasma membrane		g.chr3:16475456C>T	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.234G>A	3.37:g.16475456C>T						RFTN1_ENST00000432519.1_Silent_p.S42S	p.S78S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			3	506	-			78					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	c.234G>A	CCDS33712.1																																																																																				0.647	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		13	501	0	0	0	1	0	13	501				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	253	0	0	0	1	0	4	253				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		9	1224	0	0	0	1	0	9	1224				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000449699.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		5	373	0	0	0	1	0	5	373				
TRIP11	9321	broad.mit.edu	37	14	92470800	92470800	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470800C>G	ENST00000267622.4	-	11	3893	c.3520G>C	c.(3520-3522)Gat>Cat	p.D1174H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1174					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTAGTGCATCTATTTCGATG	0.348			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3520-3522)Gat>Cat		thyroid hormone receptor interactor 11							78.0	68.0	72.0					14																	92470800		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470800C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3520G>C	14.37:g.92470800C>G	ENSP00000267622:p.Asp1174His						p.D1174H	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3893	-			1174					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3520G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.784471|2.784471	0.49997|0.49997	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.07800|.	3.16|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59742|0.59742	0.2216|0.2216	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.54721|0.54721	-0.8251|-0.8251	10|5	0.72032|.	D|.	0.01|.	.|.	18.8762|18.8762	0.92337|0.92337	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	910;1174|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	H|T	1174;910|889	ENSP00000267622:D1174H|.	ENSP00000267622:D1174H|.	D|R	-|-	1|2	0|0	TRIP11|TRIP11	91540553|91540553	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.341000|0.341000	0.28922|0.28922	6.025000|6.025000	0.70864|0.70864	2.447000|2.447000	0.82792|0.82792	0.557000|0.557000	0.71058|0.71058	GAT|AGA		0.348	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			9	235	0	0	0	1	0	9	235				
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G	rs201049716		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:72413896A>G	ENST00000434423.2	+	11	3364	c.3364A>G	c.(3364-3366)Acc>Gcc	p.T1122A	POM121_ENST00000395270.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637																																						ENST00000395270.1																			8	Substitution - Missense(8)	p.T857A(8)	lung(4)|kidney(4)	NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2569-2571)Acc>Gcc		POM121 transmembrane nucleoporin							32.0	30.0	30.0					7																	72413896		2201	4299	6500	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413896A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3364A>G	7.37:g.72413896A>G	ENSP00000405562:p.Thr1122Ala					POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A	p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3610	+		Lung NSC(55;0.163)	1122			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2569A>G		56	0.02564102564102564	11	0.022357723577235773	14	0.03867403314917127	19	0.033216783216783216	12	0.0158311345646438	G	2.480	-0.319876	0.05386	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05649	3.46;3.41;3.46;3.41;3.71	2.86	-2.18	0.07037	.	0.720175	0.11383	N	0.569582	T	0.00724	0.0024	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42275	-0.9461	10	0.36615	T	0.2	.	4.8571	0.13564	0.1842:0.0:0.3666:0.4491	.	857;1122	A8MXF9;Q96HA1	.;P121A_HUMAN	A	857;857;857;857;1122	ENSP00000393020:T857A;ENSP00000257622:T857A;ENSP00000378687:T857A;ENSP00000351124:T857A;ENSP00000405562:T1122A	ENSP00000257622:T857A	T	+	1	0	POM121	72051832	0.360000	0.24964	0.406000	0.26421	0.004000	0.04260	0.000000	0.12993	-0.499000	0.06623	-2.511000	0.00188	ACC		0.637	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			4	277	0	0	0	1	0	4	277				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>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.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			8	310	0	0	0	1	0	8	310				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			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.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			9	368	0	0	0	1	0	9	368				
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:37430948C>G	ENST00000602533.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(955-957)Cca>Gca		ankyrin repeat domain 30A							102.0	101.0	102.0					10																	37430948		1856	4094	5950	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430948C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.955C>G	10.37:g.37430948C>G	ENSP00000473551:p.Pro319Ala					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A	p.P319A			Q9BXX3	AN30A_HUMAN			7	1054	+			375					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.955C>G		.	.	.	.	.	.	.	.	.	.	.	0	-2.634296	0.00114	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.41400	1.17;1.0	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.45577	0.1349	L	0.40543	1.245	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.39292	-0.9621	8	0.15066	T	0.55	.	.	.	.	.	375	Q9BXX3	AN30A_HUMAN	A	319	ENSP00000354432:P319A;ENSP00000363792:P319A	ENSP00000354432:P319A	P	+	1	0	ANKRD30A	37470954	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	1.228000	0.32588	0.132000	0.18615	0.134000	0.15878	CCA		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	414	0	0	0	1	0	5	414				
NYNRIN	57523	broad.mit.edu	37	14	24877207	24877207	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:24877207G>T	ENST00000382554.3	+	3	649	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	111					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCTACCTGGTGCCTGGCCC	0.642																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(331-333)Gtg>Ttg		NYN domain and retroviral integrase containing							66.0	72.0	70.0					14																	24877207		2093	4213	6306	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877207G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.331G>T	14.37:g.24877207G>T	ENSP00000371994:p.Val111Leu						p.V111L	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	649	+			111					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.331G>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375905	0.61735	.	.	ENSG00000205978	ENST00000382554	T	0.12255	2.7	4.82	4.82	0.62117	.	0.830019	0.09626	N	0.776903	T	0.18130	0.0435	M	0.65975	2.015	0.24216	N	0.995458	B	0.21520	0.057	B	0.17979	0.02	T	0.08638	-1.0712	10	0.87932	D	0	.	8.9155	0.35579	0.0986:0.0:0.9014:0.0	.	111	Q9P2P1	NYNRI_HUMAN	L	111	ENSP00000371994:V111L	ENSP00000371994:V111L	V	+	1	0	NYNRIN	23947047	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.690000	0.54713	2.503000	0.84419	0.655000	0.94253	GTG		0.642	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			138	342	1	0	8.27649e-76	1	8.89108e-76	138	342				
PCK1	5105	broad.mit.edu	37	20	56138146	56138146	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:56138146C>T	ENST00000319441.4	+	5	837	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.R93C	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	225					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGCCTGACCGCAGAGAGAT	0.622																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(673-675)Cgc>Tgc		phosphoenolpyruvate carboxykinase 1 (soluble)							72.0	74.0	73.0					20																	56138146		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138146C>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.673C>T	20.37:g.56138146C>T	ENSP00000319814:p.Arg225Cys					PCK1_ENST00000535860.1_Missense_Mutation_p.R93C|PCK1_ENST00000543666.1_Intron	p.R225C	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		5	837	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		225					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.673C>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369151	0.95900	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.04406	3.63;3.63	5.06	5.06	0.68205	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.152325	0.56097	D	0.000028	T	0.12603	0.0306	L	0.43152	1.355	0.80722	D	1	D	0.54772	0.968	P	0.54856	0.762	T	0.00697	-1.1605	10	0.66056	D	0.02	-30.42	18.803	0.92025	0.0:1.0:0.0:0.0	.	225	P35558	PCKGC_HUMAN	C	225;93	ENSP00000319814:R225C;ENSP00000444342:R93C	ENSP00000319814:R225C	R	+	1	0	PCK1	55571552	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.333000	0.79214	2.520000	0.84964	0.655000	0.94253	CGC		0.622	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			6	450	0	0	0	1	0	6	450				
NUP210P1	255330	broad.mit.edu	37	3	126386104	126386104	+	RNA	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:126386104C>A	ENST00000357061.3	+	0	556					NR_034158.1				nucleoporin 210kDa pseudogene 1																		AGAACCCTTTCTCCTTTGGCA	0.582																																						ENST00000357061.3																			0																																																			0							g.chr3:126386104C>A	BC042038		3q21.2	2011-08-16	2011-08-16	2011-08-16	ENSG00000198284	ENSG00000198284			27399	pseudogene	pseudogene			"""chromosome 3 open reading frame 46"""	C3orf46			Standard	NR_034158		Approved		uc003eje.1		OTTHUMG00000159577		3.37:g.126386104C>A								NR_034158.1						0	556	+									RNA	SNP	ENST00000357061.3	37																																																																																						0.582	NUP210P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356320.1	NR_034158		6	172	1	0	1	1	1	6	172				
MST1L	11223	broad.mit.edu	37	1	17085364	17085364	+	RNA	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:17085364G>A	ENST00000455405.2	-	0	3							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CAGGGCCCATGGCTATCCCCA	0.597																																						ENST00000455405.2																			0																																																			0							g.chr1:17085364G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085364G>A														0	3	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	12.23	1.874858	0.33069	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	0.165230	0.28595	N	0.014799	T	0.31638	0.0803	.	.	.	.	.	.	P	0.42296	0.775	B	0.40602	0.334	T	0.37842	-0.9688	6	0.62326	D	0.03	.	5.8178	0.18506	0.001:0.0:0.999:0.0	.	443	Q2TV78-2	.	Y	400;443;443	.	ENSP00000439273:H443Y	H	-	1	0	MST1P9	16957951	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	4.213000	0.58520	-0.000000	0.14550	0.000000	0.15137	CAT		0.597	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	235	0	0	0	1	0	5	235				
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:158592861G>A	ENST00000368147.4	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A2011V(6)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483																																						ENST00000368148.3																			6	Substitution - Missense(6)	p.A2011V(6)	lung(4)|urinary_tract(1)|prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6031-6033)gCc>gTc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							267.0	267.0	267.0					1																	158592861		1943	4143	6086	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592861G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6032C>T	1.37:g.158592861G>A	ENSP00000357129:p.Ala2011Val					SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A2008V	p.A2011V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6212	-	all_hematologic(112;0.0378)		2011					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6032C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096957	0.20552	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.78	0.669	0.17918	.	.	.	.	.	T	0.22859	0.0552	M	0.68952	2.095	0.30521	N	0.768424	B	0.23990	0.095	B	0.29267	0.1	T	0.14531	-1.0469	9	0.33940	T	0.23	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	V	2011;2008	ENSP00000357130:A2011V;ENSP00000357129:A2008V	ENSP00000357129:A2008V	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		7	1139	0	0	0	1	0	7	1139				
ZNF780A	284323	broad.mit.edu	37	19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:40581109T>C	ENST00000595687.2	-	6	1449	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Missense_Mutation_p.I380V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	414					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)	p.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383																																						ENST00000450241.2																			2	Substitution - Missense(2)	p.I415V(1)|p.I380V(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1138-1140)Ata>Gta		zinc finger protein 780A							178.0	182.0	180.0					19																	40581109		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581109T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1240A>G	19.37:g.40581109T>C	ENSP00000472189:p.Ile414Val					ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V	p.I380V			O75290	Z780A_HUMAN			6	1449	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		414					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1138A>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415046	0.25552	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.16897	2.31;2.31	1.93	0.83	0.18854	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31641	-0.9936	9	0.59425	D	0.04	.	8.0199	0.30404	0.0:0.8348:0.0:0.1652	.	415;414	E9PB48;O75290	.;Z780A_HUMAN	V	414;415;414	ENSP00000400997:I415V;ENSP00000341507:I414V	ENSP00000341507:I414V	I	-	1	0	ZNF780A	45272949	0.003000	0.15002	0.007000	0.13788	0.407000	0.30961	1.030000	0.30153	-0.222000	0.09958	-1.945000	0.00491	ATA		0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	966	0	0	0	1	0	6	966				
SIRPB1	10326	broad.mit.edu	37	20	1592193	1592193	+	Intron	SNP	C	C	T	rs371465078	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:1592193C>T	ENST00000381605.4	-	1	141				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Silent_p.Q81Q|SIRPB1_ENST00000381596.1_5'UTR	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCCTTCTTTCTGATTGTAGA	0.522													t|||	2823	0.563698	0.68	0.3876	5008	,	,		6072	0.631		0.3748	False		,,,				2504	0.6564					ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(241-243)caG>caA		signal-regulatory protein beta 1							94.0	111.0	106.0					20																	1592193		447	1317	1764	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592193C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8321G>A	20.37:g.1592193C>T						RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381605.4_Intron	p.Q81Q	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	307	-			81			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.243G>A	CCDS13019.1																																																																																				0.522	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		17	182	0	0	0	1	0	17	182				
CEACAM1	634	broad.mit.edu	37	19	43031337	43031337	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:43031337C>T	ENST00000161559.6	-	2	414	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	94	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCGCTGTTTGCGGGCCCTGGG	0.488																																						ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						318.0	269.0	285.0					19																	43031337		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43031337C>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.280G>A	19.37:g.43031337C>T	ENSP00000161559:p.Ala94Thr					CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|LIPE-AS1_ENST00000594624.2_RNA	p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	2	414	-		Prostate(69;0.00682)	94			Ig-like V-type.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.280G>A	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	c	17.48	3.399601	0.62177	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.41	1.97	0.26223	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75324	0.3834	M	0.83953	2.67	0.09310	N	1	D;D;B;P;P;P;P;P;D;P	0.59767	0.972;0.986;0.399;0.648;0.777;0.604;0.686;0.862;0.959;0.936	P;P;B;B;P;B;P;P;P;P	0.58210	0.593;0.835;0.241;0.296;0.506;0.407;0.597;0.628;0.689;0.745	T	0.65998	-0.6032	9	0.66056	D	0.02	.	11.6699	0.51395	0.0:0.5466:0.4534:0.0	.	94;94;94;94;94;94;94;94;94;94	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	T	94;94;94;121;54;94;94;94;54;94;94;94	ENSP00000161559:A94T;ENSP00000351165:A94T;ENSP00000325946:A94T;ENSP00000244291:A94T;ENSP00000384709:A94T;ENSP00000384083:A94T;ENSP00000312184:A54T	ENSP00000161559:A94T	A	-	1	0	CEACAM1	47723177	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.054000	0.11826	0.425000	0.26087	0.561000	0.74099	GCA		0.488	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		9	1068	0	0	0	1	0	9	1068				
VGLL4	9686	broad.mit.edu	37	3	11643423	11643423	+	Silent	SNP	G	G	A	rs151086238	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:11643423G>A	ENST00000430365.2	-	2	561	c.156C>T	c.(154-156)acC>acT	p.T52T	VGLL4_ENST00000480288.1_5'Flank|VGLL4_ENST00000404339.1_Silent_p.T51T|VGLL4_ENST00000273038.3_Silent_p.T46T|VGLL4_ENST00000413604.1_5'UTR	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial-like family member 4	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GGGGAGGGCCGGTGCGGTGAC	0.592													G|||	4	0.000798722	0.003	0.0	5008	,	,		13377	0.0		0.0	False		,,,				2504	0.0					ENST00000273038.3																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(136-138)acC>acT		vestigial like 4 (Drosophila)		G	,	21,4385	28.1+/-56.4	0,21,2182	79.0	77.0	78.0		156,138	-10.7	0.0	3	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VGLL4	NM_001128219.1,NM_014667.2	,	0,22,6481	AA,AG,GG		0.0116,0.4766,0.1692	,	52/297,46/291	11643423	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11643423G>A	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000430365.2:c.156C>T	3.37:g.11643423G>A						VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000430365.2_Silent_p.T52T|VGLL4_ENST00000404339.1_Silent_p.T51T	p.T46T	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	3	503	-			46					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Silent	SNP	ENST00000430365.2	37	c.138C>T	CCDS46754.1																																																																																				0.592	VGLL4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339133.1	NM_014667		6	466	0	0	0	1	0	6	466				
BEND2	139105	broad.mit.edu	37	X	18183254	18183254	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:18183254G>A	ENST00000380033.4	-	14	2407	c.2275C>T	c.(2275-2277)Cgt>Tgt	p.R759C		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	759	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTAAGGCTACGGATACCGCTG	0.517																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(2275-2277)Cgt>Tgt		BEN domain containing 2							197.0	173.0	181.0					X																	18183254		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18183254G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2275C>T	X.37:g.18183254G>A	ENSP00000369372:p.Arg759Cys						p.R759C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			14	2407	-			759			BEN 2.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.2275C>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879159	0.51801	.	.	ENSG00000177324	ENST00000380033	T	0.52295	0.67	5.69	1.73	0.24493	BEN domain (2);	0.351432	0.26065	N	0.026542	T	0.34774	0.0909	L	0.52759	1.655	0.09310	N	1	D	0.53151	0.958	B	0.39027	0.288	T	0.32719	-0.9896	10	0.87932	D	0	-1.0766	5.6482	0.17602	0.2622:0.138:0.5998:0.0	.	759	Q8NDZ0	BEND2_HUMAN	C	759	ENSP00000369372:R759C	ENSP00000369372:R759C	R	-	1	0	BEND2	18093175	0.107000	0.21998	0.000000	0.03702	0.028000	0.11728	0.794000	0.26958	-0.077000	0.12752	-0.268000	0.10319	CGT		0.517	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		215	729	0	0	0	1	0	215	729				
ZNF831	128611	broad.mit.edu	37	20	57768280	57768280	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:57768280G>C	ENST00000371030.2	+	1	2206	c.2206G>C	c.(2206-2208)Ggc>Cgc	p.G736R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	736							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCACTGGGTGGCAGAGACAG	0.627																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2206-2208)Ggc>Cgc		zinc finger protein 831							19.0	23.0	21.0					20																	57768280		2021	4174	6195	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768280G>C	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2206G>C	20.37:g.57768280G>C	ENSP00000360069:p.Gly736Arg						p.G736R	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2206	+	all_lung(29;0.0085)		736					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2206G>C	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951969	0.34471	.	.	ENSG00000124203	ENST00000371030	T	0.04275	3.66	5.08	-4.76	0.03229	.	0.547276	0.17694	N	0.165163	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	P	0.49961	0.93	P	0.48030	0.564	T	0.39881	-0.9592	10	0.48119	T	0.1	-2.5812	6.2258	0.20708	0.3917:0.0:0.4426:0.1657	.	736	Q5JPB2	ZN831_HUMAN	R	736	ENSP00000360069:G736R	ENSP00000360069:G736R	G	+	1	0	ZNF831	57201675	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.311000	0.08124	-0.793000	0.04475	0.643000	0.83706	GGC		0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		3	51	0	0	0	1	0	3	51				
CSMD3	114788	broad.mit.edu	37	8	113697844	113697844	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:113697844C>T	ENST00000297405.5	-	15	2517	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	758	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R758Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGATGTATCCGGCTCCCTGG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.R758Q(1)	ovary(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2272-2274)cGg>cAg		CUB and Sushi multiple domains 3							99.0	107.0	104.0					8																	113697844		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697844C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2273G>A	8.37:g.113697844C>T	ENSP00000297405:p.Arg758Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q	p.R758Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2517	-			758			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2273G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606831	0.87157	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.96	5.96	0.96718	CUB (5);	0.000000	0.64402	D	0.000002	T	0.40297	0.1111	L	0.56199	1.76	0.43145	D	0.994906	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.994;0.998;0.999	T	0.00970	-1.1496	10	0.34782	T	0.22	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	654;758;718	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	718;758;98;654;758	ENSP00000345799:R718Q;ENSP00000297405:R758Q;ENSP00000341558:R98Q;ENSP00000412263:R654Q;ENSP00000343124:R758Q	ENSP00000297405:R758Q	R	-	2	0	CSMD3	113767020	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGG		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		77	355	0	0	0	1	0	77	355				
CILP	8483	broad.mit.edu	37	15	65489559	65489559	+	Missense_Mutation	SNP	C	C	T	rs200825053		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:65489559C>T	ENST00000261883.4	-	9	3231	c.3065G>A	c.(3064-3066)cGc>cAc	p.R1022H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1022					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R1022H(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACCAGGGTGCGGTCCACACG	0.592																																						ENST00000261883.4																			1	Substitution - Missense(1)	p.R1022H(1)	prostate(1)	breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(3064-3066)cGc>cAc		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							103.0	70.0	81.0					15																	65489559		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489559C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3065G>A	15.37:g.65489559C>T	ENSP00000261883:p.Arg1022His						p.R1022H	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	3231	-			1022					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.3065G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166182	0.78339	.	.	ENSG00000138615	ENST00000261883	T	0.11277	2.79	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.08472	-1.0720	10	0.72032	D	0.01	-3.9489	18.4768	0.90795	0.0:1.0:0.0:0.0	.	1022	O75339	CILP1_HUMAN	H	1022	ENSP00000261883:R1022H	ENSP00000261883:R1022H	R	-	2	0	CILP	63276612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.795000	0.85887	2.608000	0.88229	0.655000	0.94253	CGC		0.592	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		5	319	0	0	0	1	0	5	319				
IRF2	3660	broad.mit.edu	37	4	185310135	185310135	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:185310135C>T	ENST00000393593.3	-	9	1034	c.827G>A	c.(826-828)gGc>gAc	p.G276D		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	276					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G276D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GGACGCCATGCCGGGCAGCAG	0.552																																						ENST00000393593.3																			1	Substitution - Missense(1)	p.G276D(1)	kidney(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(826-828)gGc>gAc		interferon regulatory factor 2							191.0	166.0	174.0					4																	185310135		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185310135C>T		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.827G>A	4.37:g.185310135C>T	ENSP00000377218:p.Gly276Asp						p.G276D	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	9	1034	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	276					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.827G>A	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056443	0.36277	.	.	ENSG00000168310	ENST00000393593	D	0.98178	-4.77	5.32	5.32	0.75619	.	0.350840	0.35235	N	0.003358	D	0.95487	0.8534	L	0.32530	0.975	0.41310	D	0.987106	P	0.47191	0.891	B	0.37387	0.248	D	0.94793	0.7964	10	0.25751	T	0.34	-14.1921	19.1941	0.93679	0.0:1.0:0.0:0.0	.	276	P14316	IRF2_HUMAN	D	276	ENSP00000377218:G276D	ENSP00000377218:G276D	G	-	2	0	IRF2	185547129	1.000000	0.71417	0.979000	0.43373	0.027000	0.11550	4.461000	0.60115	2.774000	0.95407	0.561000	0.74099	GGC		0.552	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			7	786	0	0	0	1	0	7	786				
USP51	158880	broad.mit.edu	37	X	55515068	55515068	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:55515068C>T	ENST00000500968.3	-	2	387	c.305G>A	c.(304-306)cGc>cAc	p.R102H	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	102	Pro-rich.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						gcggggCTTGCGGCGCGGGCA	0.761																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(304-306)cGc>cAc		ubiquitin specific peptidase 51							6.0	7.0	7.0					X																	55515068		2137	4143	6280	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55515068C>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.305G>A	X.37:g.55515068C>T	ENSP00000423333:p.Arg102His					USP51_ENST00000586165.1_Intron	p.R102H	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	387	-			102			Pro-rich.		Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.305G>A	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.283264	0.23392	.	.	ENSG00000247746	ENST00000500968	T	0.10192	2.9	2.65	1.75	0.24633	.	0.980712	0.08228	U	0.978061	T	0.10252	0.0251	N	0.24115	0.695	0.26858	N	0.968015	P	0.52170	0.951	P	0.47044	0.535	T	0.29912	-0.9996	10	0.87932	D	0	.	6.2296	0.20728	0.2943:0.7057:0.0:0.0	.	102	Q70EK9	UBP51_HUMAN	H	102	ENSP00000423333:R102H	ENSP00000423333:R102H	R	-	2	0	USP51	55531793	0.994000	0.37717	0.972000	0.41901	0.020000	0.10135	0.821000	0.27338	0.514000	0.28300	0.502000	0.49764	CGC		0.761	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		4	76	0	0	0	1	0	4	76				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	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			13	331	0	0	0	1	0	13	331				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	456	0	0	0	1	0	7	456				
ANKRD30A	91074	broad.mit.edu	37	10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:37486356G>C	ENST00000602533.1	+	29	2595	c.2496G>C	c.(2494-2496)aaG>aaC	p.K832N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K951N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	888					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2851-2853)aaG>aaC		ankyrin repeat domain 30A							87.0	78.0	81.0					10																	37486356		1801	4060	5861	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486356G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2496G>C	10.37:g.37486356G>C	ENSP00000473551:p.Lys832Asn					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N	p.K951N			Q9BXX3	AN30A_HUMAN			35	2952	+			1000					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2853G>C		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.321822	0.00018	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05139	3.49;3.49	1.36	-2.73	0.05950	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.14252	T	0.57	.	0.0386	0.00007	0.2591:0.193:0.2234:0.3245	.	888	Q9BXX3	AN30A_HUMAN	N	832;951	ENSP00000354432:K832N;ENSP00000363792:K951N	ENSP00000354432:K832N	K	+	3	2	ANKRD30A	37526362	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.102000	0.15272	-2.701000	0.00398	-2.035000	0.00420	AAG		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		4	339	0	0	0	1	0	4	339				
SON	6651	broad.mit.edu	37	21	34923991	34923991	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr21:34923991C>T	ENST00000356577.4	+	3	2929	c.2454C>T	c.(2452-2454)acC>acT	p.T818T	SON_ENST00000300278.4_Silent_p.T818T|SON_ENST00000381679.4_Silent_p.T818T|SON_ENST00000290239.6_Silent_p.T818T|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	818	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.507																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2452-2454)acC>acT		SON DNA binding protein							99.0	100.0	99.0					21																	34923991		2197	4284	6481	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923991C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2454C>T	21.37:g.34923991C>T						SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.T818T|SON_ENST00000290239.6_Silent_p.T818T|SON_ENST00000381679.4_Silent_p.T818T	p.T818T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2929	+			818			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.2454C>T	CCDS13629.1																																																																																				0.507	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		8	999	0	0	0	1	0	8	999				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		17	146	0	0	0	1	0	17	146				
OR7D4	125958	broad.mit.edu	37	19	9324694	9324694	+	Missense_Mutation	SNP	C	C	T	rs373618218		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:9324694C>T	ENST00000308682.2	-	1	848	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ATCACTGAGGCGGTGGAGCTG	0.552																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(820-822)Gcc>Acc		olfactory receptor, family 7, subfamily D, member 4		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	71.0	63.0	65.0		820	2.4	0.4	19		65	0,8600		0,0,4300	no	missense	OR7D4	NM_001005191.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	274/313	9324694	1,13005	2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324694C>T		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.820G>A	19.37:g.9324694C>T	ENSP00000310488:p.Ala274Thr						p.A274T	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	848	-			274					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.820G>A	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	5.291	0.239022	0.10023	2.27E-4	0.0	ENSG00000174667	ENST00000308682	T	0.38077	1.16	3.49	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.112635	0.39759	N	0.001267	T	0.34395	0.0896	M	0.70842	2.15	0.09310	N	1	B	0.27765	0.188	B	0.31290	0.127	T	0.34502	-0.9826	10	0.59425	D	0.04	.	5.1087	0.14798	0.0:0.665:0.2133:0.1217	.	274	Q8NG98	OR7D4_HUMAN	T	274	ENSP00000310488:A274T	ENSP00000310488:A274T	A	-	1	0	OR7D4	9185694	0.000000	0.05858	0.371000	0.25978	0.046000	0.14306	-0.229000	0.09098	0.831000	0.34780	0.205000	0.17691	GCC		0.552	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			6	321	0	0	0	1	0	6	321				
ADAM20	8748	broad.mit.edu	37	14	70991279	70991279	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:70991279G>A	ENST00000256389.3	-	2	590	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	66					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CCCCCAAACCGCAGGCTATAG	0.527																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(346-348)Cgg>Tgg		ADAM metallopeptidase domain 20							112.0	86.0	95.0					14																	70991279		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991279G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.346C>T	14.37:g.70991279G>A	ENSP00000256389:p.Arg116Trp					RP11-486O13.4_ENST00000556646.1_lincRNA	p.R116W	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	590	-			66					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.346C>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	2.877	-0.232779	0.05983	.	.	ENSG00000134007	ENST00000256389	T	0.07216	3.21	4.14	-1.25	0.09405	Peptidase M12B, propeptide (1);	0.844512	0.09575	U	0.783660	T	0.07369	0.0186	L	0.54323	1.7	0.09310	N	1	B	0.26602	0.154	B	0.24269	0.052	T	0.40794	-0.9544	10	0.59425	D	0.04	.	1.3442	0.02160	0.2309:0.1227:0.4097:0.2367	.	66	O43506	ADA20_HUMAN	W	116	ENSP00000256389:R116W	ENSP00000256389:R116W	R	-	1	2	ADAM20	70061032	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.996000	0.03709	-0.123000	0.11745	0.650000	0.86243	CGG		0.527	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			5	353	0	0	0	1	0	5	353				
KRTAP4-8	728224	broad.mit.edu	37	17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662																																						ENST00000333822.4																			1	Substitution - Missense(1)	p.S108R(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(322-324)agC>agG		keratin associated protein 4-8							4.0	6.0	6.0					17																	39254013		638	1500	2138	SO:0001583	missense	728224					keratin filament		g.chr17:39254013G>C	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.324C>G	17.37:g.39254013G>C	ENSP00000328444:p.Ser108Arg						p.S108R	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	380	-			108			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.324C>G	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.264696	0.59431	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00646	6.0	3.21	1.14	0.20703	.	2.295710	0.03395	U	0.202429	T	0.01695	0.0054	M	0.89287	3.02	0.27072	N	0.963304	B	0.34349	0.45	B	0.34093	0.175	T	0.47195	-0.9136	10	0.52906	T	0.07	.	5.4866	0.16753	0.2737:0.0:0.7263:0.0	.	108	Q9BYQ9	KRA48_HUMAN	R	108;93	ENSP00000328444:S108R	ENSP00000414561:S93R	S	-	3	2	KRTAP4-8	36507539	1.000000	0.71417	0.752000	0.31206	0.989000	0.77384	3.228000	0.51270	0.201000	0.20466	0.449000	0.29647	AGC		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		5	213	0	0	0	1	0	5	213				
DPP3	10072	broad.mit.edu	37	11	66260292	66260292	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:66260292A>T	ENST00000360510.2	+	10	1159	c.1094A>T	c.(1093-1095)aAg>aTg	p.K365M	DPP3_ENST00000541961.1_Missense_Mutation_p.K365M|DPP3_ENST00000453114.1_Missense_Mutation_p.K365M|DPP3_ENST00000531863.1_Missense_Mutation_p.K385M|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000532677.1_Missense_Mutation_p.K384M|DPP3_ENST00000530165.1_Missense_Mutation_p.K335M			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	365					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ACCTTTGAGAAGGACAAGTTC	0.597																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1150-1152)aAg>aTg		dipeptidyl-peptidase 3							92.0	91.0	92.0					11																	66260292		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66260292A>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1094A>T	11.37:g.66260292A>T	ENSP00000353701:p.Lys365Met					DPP3_ENST00000530165.1_Missense_Mutation_p.K335M|DPP3_ENST00000360510.2_Missense_Mutation_p.K365M|DPP3_ENST00000531863.1_Missense_Mutation_p.K385M|DPP3_ENST00000453114.1_Missense_Mutation_p.K365M|DPP3_ENST00000541961.1_Missense_Mutation_p.K365M|DPP3_ENST00000533799.1_3'UTR	p.K384M	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			10	1552	+			365					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1151A>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816240	0.90790	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.41	5.41	0.78517	.	0.094343	0.64402	D	0.000001	T	0.62060	0.2397	M	0.90082	3.085	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.70733	-0.4791	10	0.87932	D	0	.	13.4157	0.60968	1.0:0.0:0.0:0.0	.	384;365	G3V1D3;Q9NY33	.;DPP3_HUMAN	M	385;384;365;365;365;335;263	ENSP00000432782:K385M;ENSP00000435284:K384M;ENSP00000353701:K365M;ENSP00000389943:K365M;ENSP00000440502:K365M;ENSP00000436941:K335M	ENSP00000353701:K365M	K	+	2	0	DPP3	66016868	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.519000	0.90563	2.052000	0.61016	0.533000	0.62120	AAG		0.597	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			6	566	0	0	0	1	0	6	566				
PTPLAD1	51495	broad.mit.edu	37	15	65822970	65822970	+	Start_Codon_SNP	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:65822970A>T	ENST00000261875.5	+	1	167	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	PTPLAD1_ENST00000568793.1_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000562901.1_De_novo_Start_OutOfFrame|PTPLAD1_ENST00000566074.1_5'Flank|PTPLAD1_ENST00000442729.2_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000565299.1_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000566511.1_5'Flank	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	1					activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CAGTGTGGCCATGGAGAATCA	0.637																																						ENST00000562901.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5								protein tyrosine phosphatase-like A domain containing 1							22.0	29.0	27.0					15																	65822970		2034	4178	6212	SO:0001582	initiator_codon_variant	51495				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding	g.chr15:65822970A>T		CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.1A>T	15.37:g.65822970A>T	ENSP00000261875:p.Met1Leu					PTPLAD1_ENST00000261875.5_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000568793.1_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000442729.2_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000565299.1_Start_Codon_SNP_p.M1L				Q9P035	HACD3_HUMAN			0	215	+								A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Translation_Start_Site	SNP	ENST00000261875.5	37		CCDS45282.1	.	.	.	.	.	.	.	.	.	.	A	32	5.136982	0.94517	.	.	ENSG00000074696	ENST00000442729;ENST00000261875	T;T	0.08458	3.09;3.1	4.83	4.83	0.62350	.	0.107189	0.64402	D	0.000005	T	0.14399	0.0348	.	.	.	0.80722	D	1	B;P	0.35745	0.067;0.518	B;P	0.44647	0.014;0.456	T	0.01172	-1.1429	9	0.87932	D	0	1.7663	10.7264	0.46070	1.0:0.0:0.0:0.0	.	1;1	B4DRF4;Q9P035	.;HACD3_HUMAN	L	1	ENSP00000392491:M1L;ENSP00000261875:M1L	ENSP00000261875:M1L	M	+	1	0	PTPLAD1	63610023	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	4.391000	0.59652	2.036000	0.60181	0.477000	0.44152	ATG		0.637	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1	NM_016395	Missense_Mutation	14	19	0	0	0	1	0	14	19				
MRPL34	64981	broad.mit.edu	37	19	17417119	17417119	+	Silent	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17417119G>T	ENST00000252602.1	+	2	435	c.210G>T	c.(208-210)ctG>ctT	p.L70L	ABHD8_ENST00000247706.3_5'Flank|MRPL34_ENST00000602206.1_Nonstop_Mutation_p.*37L|MRPL34_ENST00000595444.1_Silent_p.L162L|MRPL34_ENST00000594999.1_Silent_p.L70L|MRPL34_ENST00000600434.1_Silent_p.L70L	NM_023937.3	NP_076426.1	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34	70					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)	2						TCCGGCGCCTGAGCACGCCGG	0.672																																						ENST00000602206.1																			0				endometrium(1)|lung(1)	2						c.(109-111)tGa>tTa		mitochondrial ribosomal protein L34							9.0	13.0	12.0					19																	17417119		2168	4231	6399	SO:0001819	synonymous_variant	64981				translation		structural constituent of ribosome	g.chr19:17417119G>T	AB049652	CCDS12356.1	19p13.1	2012-09-13						"""Mitochondrial ribosomal proteins / large subunits"""	14488	protein-coding gene	gene with protein product		611840				11543634	Standard	NM_023937		Approved	L34mt, MGC2633, MGC24974	uc002ngc.1	Q9BQ48		ENST00000252602.1:c.210G>T	19.37:g.17417119G>T						MRPL34_ENST00000594999.1_Silent_p.L70L|MRPL34_ENST00000600434.1_Silent_p.L70L|MRPL34_ENST00000252602.1_Silent_p.L70L|MRPL34_ENST00000595444.1_Silent_p.L162L	p.*37L			Q9BQ48	RM34_HUMAN			2	131	+			0						Nonstop_Mutation	SNP	ENST00000252602.1	37	c.110G>T	CCDS12356.1																																																																																				0.672	MRPL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463516.1	NM_023937		18	63	1	0	1.9806e-07	1	2.05641e-07	18	63				
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380043.3_Silent_p.C249C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448																																						ENST00000380043.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.(745-747)tgC>tgT		sex comb on midleg-like 1 (Drosophila)							377.0	317.0	337.0					X																	17770059		2203	4300	6503	SO:0001819	synonymous_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17770059C>T		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.828C>T	X.37:g.17770059C>T						SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	p.C249C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN			6	1075	+	Hepatocellular(33;0.183)		276					B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	c.747C>T	CCDS35210.1																																																																																				0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		7	1379	0	0	0	1	0	7	1379				
HIF3A	64344	broad.mit.edu	37	19	46825050	46825050	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:46825050A>G	ENST00000377670.4	+	10	1193	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V	HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000339613.2_Missense_Mutation_p.I332V|HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V|HIF3A_ENST00000300862.3_Missense_Mutation_p.I386V|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	388					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGGCCCCCGGATCCTTGCCTT	0.682																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(994-996)Atc>Gtc		hypoxia inducible factor 3, alpha subunit							55.0	67.0	63.0					19																	46825050		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46825050A>G	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1162A>G	19.37:g.46825050A>G	ENSP00000366898:p.Ile388Val					HIF3A_ENST00000300862.3_Missense_Mutation_p.I386V|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000377670.4_Missense_Mutation_p.I388V|HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V|HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V	p.I332V			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	10	1249	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	388					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.994A>G	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.499|6.499	0.460253|0.460253	0.12342|0.12342	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000472815|ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	.|T;T;T;T;T	.|0.64803	.|0.63;-0.11;0.51;0.63;-0.12	4.43|4.43	3.42|3.42	0.39159|0.39159	.|.	.|1.554280	.|0.03882	.|N	.|0.277189	T|T	0.53351|0.53351	0.1791|0.1791	N|N	0.24115|0.24115	0.695|0.695	0.24933|0.24933	N|N	0.991907|0.991907	.|B;B;B;P;B;B;B	.|0.48350	.|0.074;0.048;0.119;0.909;0.073;0.073;0.024	.|B;B;B;P;B;B;B	.|0.48304	.|0.062;0.048;0.067;0.573;0.031;0.031;0.01	T|T	0.43686|0.43686	-0.9376|-0.9376	5|10	.|0.11182	.|T	.|0.66	.|.	6.4511|6.4511	0.21903|0.21903	0.8903:0.0:0.1097:0.0|0.8903:0.0:0.1097:0.0	.|.	.|337;319;386;337;332;388;388	.|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.|.;.;.;.;.;HIF3A_HUMAN;.	G|V	360|388;388;319;332;332;386;337	.|ENSP00000366898:I388V;ENSP00000244303:I319V;ENSP00000341877:I332V;ENSP00000300862:I386V;ENSP00000407771:I337V	.|ENSP00000244302:I388V	D|I	+|+	2|1	0|0	HIF3A|HIF3A	51516890|51516890	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.473000|0.473000	0.32948|0.32948	0.753000|0.753000	0.26376|0.26376	0.874000|0.874000	0.35823|0.35823	0.533000|0.533000	0.62120|0.62120	GAT|ATC		0.682	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			211	560	0	0	0	1	0	211	560				
PMFBP1	83449	broad.mit.edu	37	16	72170640	72170640	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:72170640G>A	ENST00000237353.10	-	8	1258	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	PMFBP1_ENST00000537465.1_Missense_Mutation_p.R333C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R188C	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	333						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGTTCCACGCGCAGATCCTTC	0.552																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(997-999)Cgc>Tgc		polyamine modulated factor 1 binding protein 1							99.0	82.0	87.0					16																	72170640		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72170640G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.997C>T	16.37:g.72170640G>A	ENSP00000237353:p.Arg333Cys					PMFBP1_ENST00000237353.10_Missense_Mutation_p.R333C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R188C	p.R333C			Q8TBY8	PMFBP_HUMAN			8	1155	-		Ovarian(137;0.179)	333					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.997C>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375346	0.61735	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.19250	2.18;2.19;2.16	4.85	1.33	0.21861	.	0.554792	0.13865	N	0.357364	T	0.33440	0.0863	L	0.36672	1.1	0.42002	D	0.990895	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.83275	0.996;0.881;0.996	T	0.07121	-1.0789	10	0.59425	D	0.04	-1.6358	10.8676	0.46864	0.0:0.0:0.3296:0.6704	.	333;333;333	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	C	333;333;188	ENSP00000443817:R333C;ENSP00000237353:R333C;ENSP00000347854:R188C	ENSP00000237353:R333C	R	-	1	0	PMFBP1	70728141	0.994000	0.37717	0.976000	0.42696	0.795000	0.44927	0.773000	0.26661	0.403000	0.25479	0.563000	0.77884	CGC		0.552	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		4	202	0	0	0	1	0	4	202				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		5	195	0	0	0	1	0	5	195				
MEFV	4210	broad.mit.edu	37	16	3299648	3299648	+	Missense_Mutation	SNP	C	C	T	rs104895198		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3299648C>T	ENST00000219596.1	-	3	1082	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	MEFV_ENST00000541159.1_Missense_Mutation_p.R137H|MEFV_ENST00000339854.4_Missense_Mutation_p.R168H|MEFV_ENST00000536379.1_Missense_Mutation_p.R137H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	348					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R348H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GCCAGGTGAGCGGCTGCCTGA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16808	0.0		0.0	False		,,,				2504	0.001					ENST00000219596.1																			1	Substitution - Missense(1)	p.R348H(1)	ovary(1)	NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1042-1044)cGc>cAc		Mediterranean fever	Colchicine(DB01394)	C	HIS/ARG,HIS/ARG	1,4391	2.1+/-5.4	0,1,2195	25.0	28.0	27.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1043,410	-8.2	0.0	16	dbSNP_132	27	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	MEFV	NM_000243.2,NM_001198536.1	29,29	0,4,6492	TT,TC,CC		0.0349,0.0228,0.0308	possibly-damaging,possibly-damaging	348/782,137/446	3299648	4,12988	2196	4300	6496	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299648C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1043G>A	16.37:g.3299648C>T	ENSP00000219596:p.Arg348His					MEFV_ENST00000541159.1_Missense_Mutation_p.R137H|MEFV_ENST00000536379.1_Missense_Mutation_p.R137H|MEFV_ENST00000339854.4_Missense_Mutation_p.R168H	p.R348H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			3	1082	-			348					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1043G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253552	0.10185	2.28E-4	3.49E-4	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64618	-0.11;0.32;0.22;0.33	4.11	-8.23	0.01033	.	2.533260	0.01059	N	0.004617	T	0.41971	0.1182	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.43410	-0.9393	10	0.33141	T	0.24	-27.6587	14.814	0.70017	0.0:0.7071:0.1089:0.184	.	348	O15553	MEFV_HUMAN	H	348;348;168;137;137;137	ENSP00000219596:R348H;ENSP00000339639:R168H;ENSP00000438711:R137H;ENSP00000445079:R137H	ENSP00000219596:R348H	R	-	2	0	MEFV	3239649	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.762000	0.00373	-2.922000	0.00304	-0.251000	0.11542	CGC		0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		40	138	0	0	0	1	0	40	138				
LAIR1	3903	broad.mit.edu	37	19	54872775	54872775	+	Missense_Mutation	SNP	C	C	T	rs202185118		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54872775C>T	ENST00000391742.2	-	3	264	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Missense_Mutation_p.V37M|LAIR1_ENST00000391743.3_Missense_Mutation_p.V20M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	38	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		AGGGGGATCACGGTGCCTGGC	0.582																																						ENST00000391743.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(58-60)Gtg>Atg		leukocyte-associated immunoglobulin-like receptor 1		C	MET/VAL,MET/VAL	2,4404		0,2,2201	100.0	106.0	104.0		112,112	-1.8	0.0	19		104	1,8599		0,1,4299	yes	missense,missense	LAIR1	NM_002287.3,NM_021706.2	21,21	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,benign	38/288,38/271	54872775	3,13003	2203	4300	6503	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872775C>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.112G>A	19.37:g.54872775C>T	ENSP00000375622:p.Val38Met					LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391742.2_Missense_Mutation_p.V38M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000474878.1_Missense_Mutation_p.V37M	p.V20M			Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	338	-	Ovarian(34;0.19)		38						Missense_Mutation	SNP	ENST00000391742.2	37	c.58G>A	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	13.40	2.225204	0.39300	4.54E-4	1.16E-4	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;5.55	3.16	-1.77	0.07982	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.038110	0.07680	N	0.936945	T	0.22781	0.0550	M	0.72353	2.195	0.09310	N	1	P;B;B;P;P;P	0.49696	0.628;0.448;0.436;0.927;0.626;0.673	B;B;B;P;B;B	0.52554	0.267;0.266;0.118;0.702;0.097;0.323	T	0.28396	-1.0045	10	0.35671	T	0.21	.	6.5499	0.22427	0.0:0.5255:0.0:0.4745	.	38;20;37;37;38;38	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	M	20;38;37;38;31;37;32	ENSP00000375623:V20M;ENSP00000375622:V38M;ENSP00000391003:V37M;ENSP00000301193:V38M;ENSP00000319204:V31M;ENSP00000418998:V37M;ENSP00000392058:V32M	ENSP00000319204:V31M	V	-	1	0	LAIR1	59564587	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.630000	0.05502	-0.205000	0.10219	-0.210000	0.12710	GTG		0.582	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			11	636	0	0	0	1	0	11	636				
LTBP2	4053	broad.mit.edu	37	14	74969572	74969572	+	Missense_Mutation	SNP	G	G	A	rs142182623	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74969572G>A	ENST00000261978.4	-	34	5340	c.4954C>T	c.(4954-4956)Cgg>Tgg	p.R1652W	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1608W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1652					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGCCTGGCCGGAAGTGGACC	0.632													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18329	0.0		0.001	False		,,,				2504	0.0					ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4954-4956)Cgg>Tgg		latent transforming growth factor beta binding protein 2		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	46.0	52.0	50.0		4954	5.0	1.0	14	dbSNP_134	50	0,8600		0,0,4300	yes	missense	LTBP2	NM_000428.2	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1652/1822	74969572	2,13004	2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74969572G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4954C>T	14.37:g.74969572G>A	ENSP00000261978:p.Arg1652Trp					LTBP2_ENST00000556690.1_Missense_Mutation_p.R1608W	p.R1652W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	34	5340	-			1652					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.4954C>T	CCDS9831.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	21.4	4.148204	0.78001	4.54E-4	0.0	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.79141	-1.24;-1.24	5.04	5.04	0.67666	.	0.000000	0.38217	N	0.001768	T	0.81039	0.4740	L	0.32530	0.975	0.38329	D	0.943745	D	0.89917	1.0	D	0.91635	0.999	T	0.83233	-0.0062	10	0.66056	D	0.02	.	11.1565	0.48491	0.0:0.0:0.7663:0.2337	.	1652	Q14767	LTBP2_HUMAN	W	1652;1608	ENSP00000261978:R1652W;ENSP00000451477:R1608W	ENSP00000261978:R1652W	R	-	1	2	LTBP2	74039325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.443000	0.59994	2.610000	0.88304	0.561000	0.74099	CGG		0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		5	461	0	0	0	1	0	5	461				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	224	0	0	0	1	0	5	224				
NACA	4666	broad.mit.edu	37	12	57111746	57111746	+	Missense_Mutation	SNP	A	A	G	rs2958150		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:57111746A>G	ENST00000454682.1	-	3	3849	c.3568T>C	c.(3568-3570)Tcc>Ccc	p.S1190P	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1190	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTTTGGGGGATGGGGTAGCT	0.632			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3568-3570)Tcc>Ccc		nascent polypeptide-associated complex alpha subunit							70.0	79.0	76.0					12																	57111746		1211	2850	4061	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111746A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3568T>C	12.37:g.57111746A>G	ENSP00000403817:p.Ser1190Pro					NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	p.S1190P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3849	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3568T>C		.	.	.	.	.	.	.	.	.	.	N	4.185	0.032930	0.08101	.	.	ENSG00000196531	ENST00000454682	T	0.48522	0.81	3.45	-6.89	0.01660	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13656	-1.0501	7	.	.	.	.	3.2779	0.06904	0.2678:0.208:0.4211:0.1031	.	1190	E9PAV3	.	P	1190	ENSP00000403817:S1190P	.	S	-	1	0	NACA	55398013	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.625000	0.05534	-2.321000	0.00641	-2.753000	0.00124	TCC		0.632	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		8	687	0	0	0	1	0	8	687				
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	rs377381152		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca		iodotyrosine deiodinase		A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122.0	109.0	113.0		607,607,607	2.1	0.0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr					IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		5	299	0	0	0	1	0	5	299				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		9	195	0	0	0	1	0	9	195				
CCDC15	80071	broad.mit.edu	37	11	124857562	124857562	+	Silent	SNP	A	A	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:124857562A>G	ENST00000344762.5	+	8	1699	c.1440A>G	c.(1438-1440)ttA>ttG	p.L480L	CCDC15_ENST00000529051.1_Silent_p.L480L	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	480						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAATTTTTTATCTAGAGACC	0.408																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1438-1440)ttA>ttG		coiled-coil domain containing 15							130.0	123.0	125.0					11																	124857562		1810	4072	5882	SO:0001819	synonymous_variant	80071					centrosome		g.chr11:124857562A>G	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1440A>G	11.37:g.124857562A>G						CCDC15_ENST00000344762.5_Silent_p.L480L	p.L480L			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1699	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	480					Q9H8U7	Silent	SNP	ENST00000344762.5	37	c.1440A>G	CCDS44756.1																																																																																				0.408	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		6	592	0	0	0	1	0	6	592				
CREBBP	1387	broad.mit.edu	37	16	3824628	3824628	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3824628C>A	ENST00000262367.5	-	12	3034	c.2225G>T	c.(2224-2226)cGt>cTt	p.R742L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R704L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	742					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGAGGCTGCACGAGGTCCCAT	0.522			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2224-2226)cGt>cTt		CREB binding protein							151.0	119.0	130.0					16																	3824628		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3824628C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2225G>T	16.37:g.3824628C>A	ENSP00000262367:p.Arg742Leu					CREBBP_ENST00000382070.3_Missense_Mutation_p.R704L	p.R742L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	12	3034	-		Ovarian(90;0.0266)	742					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.2225G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333841	0.81801	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84070	-1.8;-1.74	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	1.0;0.976	D;P	0.73380	0.98;0.901	D	0.88209	0.2889	10	0.44086	T	0.13	-18.4109	18.3882	0.90473	0.0:1.0:0.0:0.0	.	772;742	Q4LE28;Q92793	.;CBP_HUMAN	L	742;772;704	ENSP00000262367:R742L;ENSP00000371502:R704L	ENSP00000262367:R742L	R	-	2	0	CREBBP	3764629	1.000000	0.71417	0.203000	0.23512	0.964000	0.63967	6.965000	0.76067	2.663000	0.90544	0.557000	0.71058	CGT		0.522	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	350	1	0	1	1	1	5	350				
NR2F1	7025	broad.mit.edu	37	5	92921011	92921011	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:92921011C>T	ENST00000327111.3	+	1	1969	c.282C>T	c.(280-282)agC>agT	p.S94S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	94					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACAAGTCGAGCGGCAAGCACT	0.642																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(280-282)agC>agT		nuclear receptor subfamily 2, group F, member 1							30.0	27.0	28.0					5																	92921011		2203	4300	6503	SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92921011C>T	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.282C>T	5.37:g.92921011C>T						NR2F1-AS1_ENST00000513055.1_RNA	p.S94S	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	1	1969	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	94						Silent	SNP	ENST00000327111.3	37	c.282C>T	CCDS4068.1																																																																																				0.642	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		4	51	0	0	0	1	0	4	51				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	263	0	0	0	1	0	8	263				
PPP1R1C	151242	broad.mit.edu	37	2	182850872	182850872	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:182850872C>T	ENST00000409137.3	+	1	278	c.35C>T	c.(34-36)gCc>gTc	p.A12V	PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000409702.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000280295.3_Missense_Mutation_p.A12V	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	12					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			ATACAGTTTGCCGTGCCTGTA	0.448																																						ENST00000409137.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6						c.(34-36)gCc>gTc		protein phosphatase 1, regulatory (inhibitor) subunit 1C							150.0	144.0	146.0					2																	182850872		2010	4183	6193	SO:0001583	missense	151242				signal transduction	cytoplasm	protein phosphatase inhibitor activity	g.chr2:182850872C>T	AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.35C>T	2.37:g.182850872C>T	ENSP00000386359:p.Ala12Val					PPP1R1C_ENST00000409702.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000280295.3_Missense_Mutation_p.A12V|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.A12V	p.A12V	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0628)		1	278	+			12					Q5HYJ5|Q8TD54	Missense_Mutation	SNP	ENST00000409137.3	37	c.35C>T	CCDS46468.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558951	0.86231	.	.	ENSG00000150722	ENST00000452904;ENST00000409137;ENST00000280295;ENST00000409702	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.87	5.87	0.94306	.	0.053176	0.85682	D	0.000000	T	0.49304	0.1549	M	0.69823	2.125	0.58432	D	0.99999	P;P	0.48503	0.911;0.834	P;P	0.50896	0.642;0.653	T	0.46857	-0.9161	10	0.72032	D	0.01	-13.2258	20.5827	0.99408	0.0:1.0:0.0:0.0	.	12;12	Q8WVI7-2;Q8WVI7	.;PPR1C_HUMAN	V	12	ENSP00000399602:A12V;ENSP00000386359:A12V;ENSP00000280295:A12V;ENSP00000386778:A12V	ENSP00000280295:A12V	A	+	2	0	PPP1R1C	182559117	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.971000	0.70440	2.941000	0.99782	0.655000	0.94253	GCC		0.448	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334874.1	NM_001080545		6	466	0	0	0	1	0	6	466				
EPS15L1	58513	broad.mit.edu	37	19	16551706	16551706	+	Silent	SNP	G	G	A	rs199918822		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:16551706G>A	ENST00000248070.6	-	4	319	c.180C>T	c.(178-180)gcC>gcT	p.A60A	EPS15L1_ENST00000535753.2_Silent_p.A60A|EPS15L1_ENST00000597937.1_Silent_p.A60A|EPS15L1_ENST00000594975.1_Silent_p.A60A|EPS15L1_ENST00000455140.2_Silent_p.A60A|CTD-2013N17.4_ENST00000587343.1_RNA	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	60	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTTCTGGATCGGCCAAGTCCC	0.522																																						ENST00000597937.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(178-180)gcC>gcT		epidermal growth factor receptor pathway substrate 15-like 1							243.0	247.0	245.0					19																	16551706		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16551706G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.180C>T	19.37:g.16551706G>A						EPS15L1_ENST00000594975.1_Silent_p.A60A|EPS15L1_ENST00000535753.2_Silent_p.A60A|EPS15L1_ENST00000455140.2_Silent_p.A60A|EPS15L1_ENST00000248070.6_Silent_p.A60A	p.A60A	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN			4	184	-			60			EH 1.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.180C>T	CCDS32944.1																																																																																				0.522	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		7	1323	0	0	0	1	0	7	1323				
RGS12	6002	broad.mit.edu	37	4	3318330	3318330	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:3318330G>A	ENST00000344733.5	+	2	1337	c.433G>A	c.(433-435)Gga>Aga	p.G145R	RGS12_ENST00000336727.3_Missense_Mutation_p.G145R|RGS12_ENST00000543385.1_Missense_Mutation_p.G145R|RGS12_ENST00000382788.3_Missense_Mutation_p.G145R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	145					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGTCTGGTGGAATTTTCAA	0.468																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(433-435)Gga>Aga		regulator of G-protein signaling 12							59.0	65.0	63.0					4																	3318330		2203	4299	6502	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318330G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.433G>A	4.37:g.3318330G>A	ENSP00000339381:p.Gly145Arg					RGS12_ENST00000382788.3_Missense_Mutation_p.G145R|RGS12_ENST00000344733.5_Missense_Mutation_p.G145R|RGS12_ENST00000543385.1_Missense_Mutation_p.G145R	p.G145R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1337	+			145					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.433G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196311	0.78902	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.37058	1.22;1.27;1.28;1.28	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.994;0.987;0.995	T	0.67960	-0.5535	10	0.72032	D	0.01	-22.7391	16.6763	0.85280	0.0:0.0:1.0:0.0	.	145;145;145	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	R	145	ENSP00000440566:G145R;ENSP00000339381:G145R;ENSP00000338509:G145R;ENSP00000372238:G145R	ENSP00000338509:G145R	G	+	1	0	RGS12	3288128	1.000000	0.71417	0.077000	0.20336	0.902000	0.53008	7.324000	0.79115	2.176000	0.68965	0.491000	0.48974	GGA		0.468	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		104	284	0	0	0	1	0	104	284				
IL22RA1	58985	broad.mit.edu	37	1	24447351	24447351	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:24447351T>C	ENST00000270800.1	-	7	1707	c.1669A>G	c.(1669-1671)Aca>Gca	p.T557A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	557					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCCAGTTCTGTGGGCTGCTCC	0.607																																						ENST00000270800.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1669-1671)Aca>Gca		interleukin 22 receptor, alpha 1							54.0	60.0	58.0					1																	24447351		2203	4300	6503	SO:0001583	missense	58985					integral to membrane	interferon receptor activity	g.chr1:24447351T>C	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1669A>G	1.37:g.24447351T>C	ENSP00000270800:p.Thr557Ala						p.T557A	NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	7	1707	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	557					A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	c.1669A>G	CCDS247.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954597	0.34471	.	.	ENSG00000142677	ENST00000270800	T	0.11385	2.78	4.97	-9.84	0.00479	.	2.787690	0.01292	N	0.010041	T	0.07052	0.0179	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.003	T	0.23511	-1.0186	10	0.41790	T	0.15	11.0103	8.4218	0.32705	0.1227:0.5662:0.0:0.3111	.	489;557	B4E2V9;Q8N6P7	.;I22R1_HUMAN	A	557	ENSP00000270800:T557A	ENSP00000270800:T557A	T	-	1	0	IL22RA1	24319938	0.000000	0.05858	0.000000	0.03702	0.862000	0.49288	-2.028000	0.01431	-1.664000	0.01479	0.529000	0.55759	ACA		0.607	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			94	307	0	0	0	1	0	94	307				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		5	279	0	0	0	1	0	5	279				
CNTNAP2	26047	broad.mit.edu	37	7	147600759	147600759	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:147600759G>A	ENST00000361727.3	+	14	2717	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	734	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCATCGAACGCAACTGCACA	0.582										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2200-2202)cGc>cAc		contactin associated protein-like 2							77.0	63.0	68.0					7																	147600759		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147600759G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2201G>A	7.37:g.147600759G>A	ENSP00000354778:p.Arg734His	HNSCC(39;0.1)					p.R734H	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2717	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	734			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2201G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119856	0.56613	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.09723	2.95;2.95	5.7	5.7	0.88788	.	0.066576	0.64402	D	0.000013	T	0.12092	0.0294	L	0.38838	1.175	0.80722	D	1	B	0.17268	0.021	B	0.11329	0.006	T	0.05683	-1.0870	10	0.41790	T	0.15	.	18.4119	0.90554	0.0:0.0:1.0:0.0	.	734	Q9UHC6	CNTP2_HUMAN	H	734;125	ENSP00000354778:R734H;ENSP00000392208:R125H	ENSP00000354778:R734H	R	+	2	0	CNTNAP2	147231692	0.993000	0.37304	0.913000	0.36048	0.923000	0.55619	4.880000	0.63107	2.700000	0.92200	0.563000	0.77884	CGC		0.582	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			4	118	0	0	0	1	0	4	118				
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							83.0	76.0	79.0					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys					NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C	p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	566	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		6	567	0	0	0	1	0	6	567				
ZC3H3	23144	broad.mit.edu	37	8	144620690	144620690	+	Missense_Mutation	SNP	C	C	T	rs374453895		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:144620690C>T	ENST00000262577.5	-	2	878	c.847G>A	c.(847-849)Gcc>Acc	p.A283T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	283					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCCGGTCTGGCGGGGCCCCCC	0.617																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(847-849)Gcc>Acc		zinc finger CCCH-type containing 3		C	THR/ALA	0,4406		0,0,2203	46.0	55.0	52.0		847	3.4	0.0	8		52	1,8593	1.2+/-3.3	0,1,4296	no	missense	ZC3H3	NM_015117.2	58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	283/949	144620690	1,12999	2203	4297	6500	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620690C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.847G>A	8.37:g.144620690C>T	ENSP00000262577:p.Ala283Thr						p.A283T	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	878	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		283					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.847G>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	5.773	0.327034	0.10900	0.0	1.16E-4	ENSG00000014164	ENST00000262577	T	0.02863	4.13	5.25	3.44	0.39384	.	1.396000	0.04407	N	0.365298	T	0.02848	0.0085	L	0.44542	1.39	0.09310	N	1	P	0.41710	0.76	B	0.29862	0.108	T	0.43972	-0.9358	10	0.38643	T	0.18	-6.3777	3.3926	0.07294	0.1411:0.5762:0.1364:0.1464	.	283	Q8IXZ2	ZC3H3_HUMAN	T	283	ENSP00000262577:A283T	ENSP00000262577:A283T	A	-	1	0	ZC3H3	144691833	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.254000	0.08781	0.596000	0.29794	-0.126000	0.14955	GCC		0.617	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		6	772	0	0	0	1	0	6	772				
TRIP11	9321	broad.mit.edu	37	14	92470968	92470968	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470968C>G	ENST00000267622.4	-	11	3725	c.3352G>C	c.(3352-3354)Gaa>Caa	p.E1118Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1118					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTGATATTCTGTTTTTAGA	0.358			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3352-3354)Gaa>Caa		thyroid hormone receptor interactor 11							84.0	80.0	81.0					14																	92470968		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470968C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3352G>C	14.37:g.92470968C>G	ENSP00000267622:p.Glu1118Gln						p.E1118Q	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3725	-			1118					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3352G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.52|12.52	1.963335|1.963335	0.34659|0.34659	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.07908|.	3.15|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.054850|.	0.64402|.	D|.	0.000001|.	T|T	0.58206|0.58206	0.2106|0.2106	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.76494|.	0.996;0.999|.	P;D|.	0.67382|.	0.892;0.951|.	T|T	0.53535|0.53535	-0.8425|-0.8425	10|5	0.35671|.	T|.	0.21|.	.|.	18.7643|18.7643	0.91866|0.91866	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	854;1118|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	1118;854|833	ENSP00000267622:E1118Q|.	ENSP00000267622:E1118Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91540721|91540721	1.000000|1.000000	0.71417|0.71417	0.236000|0.236000	0.24074|0.24074	0.094000|0.094000	0.18550|0.18550	7.726000|7.726000	0.84824|0.84824	2.420000|2.420000	0.82092|0.82092	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.358	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			4	186	0	0	0	1	0	4	186				
RBFOX2	23543	broad.mit.edu	37	22	36205927	36205927	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:36205927G>A	ENST00000438146.2	-	3	361	c.362C>T	c.(361-363)gCc>gTc	p.A121V	RBFOX2_ENST00000359369.4_Missense_Mutation_p.A31V|RBFOX2_ENST00000405409.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A51V|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A31V|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000449924.2_Missense_Mutation_p.A51V	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	61	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						GGTCTGGCCGGCATAGTCTTG	0.542																																						ENST00000405409.2																			0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(151-153)gCc>gTc		RNA binding protein, fox-1 homolog (C. elegans) 2							248.0	211.0	224.0					22																	36205927		2203	4300	6503	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36205927G>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.362C>T	22.37:g.36205927G>A	ENSP00000413035:p.Ala121Val					RBFOX2_ENST00000397303.2_Missense_Mutation_p.A31V|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A51V|RBFOX2_ENST00000359369.4_Missense_Mutation_p.A31V|RBFOX2_ENST00000449924.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000438146.2_Missense_Mutation_p.A121V|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A51V	p.A51V	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN			2	520	-			61					A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	c.152C>T	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778134	0.96929	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	T;T;T;T;T;T;T;T	0.52754	1.44;1.26;0.69;0.99;1.38;0.95;0.65;1.66	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	L	0.54323	1.7	0.54753	D	0.999982	D;D;D;D;P;D;D;P;P;D	0.67145	0.996;0.974;0.975;0.975;0.939;0.996;0.995;0.913;0.925;0.974	P;P;P;P;B;D;P;P;P;P	0.70935	0.874;0.72;0.647;0.647;0.376;0.971;0.885;0.614;0.644;0.595	T	0.67070	-0.5763	10	0.87932	D	0	.	20.0065	0.97435	0.0:0.0:1.0:0.0	.	31;61;121;121;51;51;51;51;51;31	B0QYY4;O43251;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;RFOX2_HUMAN;.;.;.;.;.;.;.;.	V	51;61;51;51;51;31;31;51;121;73;31	ENSP00000384944:A51V;ENSP00000407855:A51V;ENSP00000391670:A51V;ENSP00000380470:A31V;ENSP00000352328:A31V;ENSP00000405651:A51V;ENSP00000413035:A121V;ENSP00000386177:A73V	ENSP00000262829:A51V	A	-	2	0	RBFOX2	34535873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.346000	0.90060	2.713000	0.92767	0.655000	0.94253	GCC		0.542	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			7	1049	0	0	0	1	0	7	1049				
SIRPA	140885	broad.mit.edu	37	20	1902292	1902292	+	Missense_Mutation	SNP	G	G	A	rs200513155		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:1902292G>A	ENST00000358771.4	+	3	840	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	230	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V230M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATCTGCGAGGTGGCCCACGT	0.612																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V230M(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(688-690)Gtg>Atg		signal-regulatory protein alpha							66.0	57.0	60.0					20																	1902292		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902292G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.688G>A	20.37:g.1902292G>A	ENSP00000351621:p.Val230Met					SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M	p.V230M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	840	+			230			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.688G>A	CCDS13022.1	23	0.010531135531135532	4	0.008130081300813009	2	0.0055248618784530384	6	0.01048951048951049	11	0.014511873350923483	G	19.90	3.912586	0.72983	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.13538	2.58;2.58;2.58	4.86	4.86	0.63082	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.115071	0.38720	N	0.001599	T	0.38081	0.1027	H	0.95294	3.65	0.45634	D	0.99856	D;D;D	0.69078	0.993;0.984;0.997	D;P;P	0.62955	0.909;0.562;0.878	T	0.57556	-0.7791	10	0.66056	D	0.02	.	13.7542	0.62926	0.0:0.0:1.0:0.0	.	210;230;230	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	M	230	ENSP00000382941:V230M;ENSP00000348307:V230M;ENSP00000351621:V230M	ENSP00000348307:V230M	V	+	1	0	SIRPA	1850292	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.834000	0.39171	2.718000	0.92993	0.650000	0.86243	GTG		0.612	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		6	251	0	0	0	1	0	6	251				
NCOA6	23054	broad.mit.edu	37	20	33345759	33345759	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:33345759C>T	ENST00000374796.2	-	8	3362	c.792G>A	c.(790-792)caG>caA	p.Q264Q	NCOA6_ENST00000359003.2_Silent_p.Q264Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	264	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q264Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgctgctgctgct	0.532																																						ENST00000374796.2																			1	Substitution - coding silent(1)	p.Q264Q(1)	endometrium(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(790-792)caG>caA		nuclear receptor coactivator 6							60.0	52.0	55.0					20																	33345759		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345759C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.792G>A	20.37:g.33345759C>T						NCOA6_ENST00000359003.2_Silent_p.Q264Q	p.Q264Q			Q14686	NCOA6_HUMAN			8	3362	-			264			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.792G>A	CCDS13241.1																																																																																				0.532	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	264	0	0	0	1	0	5	264				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		11	197	0	0	0	1	0	11	197				
CMYA5	202333	broad.mit.edu	37	5	79026738	79026738	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:79026738G>A	ENST00000446378.2	+	2	2181	c.2150G>A	c.(2149-2151)cGt>cAt	p.R717H		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	717					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAATTGACCGTAAGTCCCCG	0.448																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(2149-2151)cGt>cAt		cardiomyopathy associated 5							84.0	79.0	81.0					5																	79026738		1924	4138	6062	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026738G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2150G>A	5.37:g.79026738G>A	ENSP00000394770:p.Arg717His						p.R717H	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2181	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	717					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.2150G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	g	8.935	0.964478	0.18583	.	.	ENSG00000164309	ENST00000446378	T	0.46451	0.87	5.56	-11.1	0.00147	.	1.948280	0.02137	N	0.056869	T	0.08179	0.0204	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38394	-0.9663	10	0.30078	T	0.28	.	1.3491	0.02169	0.16:0.331:0.2504:0.2586	.	717	Q8N3K9	CMYA5_HUMAN	H	717	ENSP00000394770:R717H	ENSP00000394770:R717H	R	+	2	0	CMYA5	79062494	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.582000	0.02117	-2.338000	0.00627	-1.007000	0.02485	CGT		0.448	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		4	197	0	0	0	1	0	4	197				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	167	0	0	0	1	0	5	167				
ALG13	79868	broad.mit.edu	37	X	110980099	110980099	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:110980099G>A	ENST00000394780.3	+	23	2699	c.2687G>A	c.(2686-2688)gGc>gAc	p.G896D	ALG13_ENST00000251943.4_Missense_Mutation_p.G792D|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	896	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CCTACACACGGCAGGCCAGGT	0.433																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(2686-2688)gGc>gAc		ALG13, UDP-N-acetylglucosaminyltransferase subunit							200.0	173.0	181.0					X																	110980099		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110980099G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2687G>A	X.37:g.110980099G>A	ENSP00000378260:p.Gly896Asp					ALG13_ENST00000251943.4_Missense_Mutation_p.G792D|ALG13_ENST00000470971.1_3'UTR	p.G896D	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			23	2699	+			896			Pro-rich.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.2687G>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841823	0.32513	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.33865	1.39;3.01	5.49	2.7	0.31948	.	0.548871	0.20332	N	0.094419	T	0.48150	0.1484	L	0.58101	1.795	0.09310	N	1	B;B;D	0.67145	0.082;0.049;0.996	B;B;P	0.62184	0.04;0.018;0.899	T	0.33085	-0.9882	10	0.28530	T	0.3	1.5933	10.6013	0.45369	0.2322:0.0:0.7678:0.0	.	818;896;792	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	D	792;896;529	ENSP00000251943:G792D;ENSP00000378260:G896D	ENSP00000251943:G792D	G	+	2	0	ALG13	110866755	0.055000	0.20627	0.049000	0.19019	0.885000	0.51271	0.494000	0.22467	0.596000	0.29794	0.600000	0.82982	GGC		0.433	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		6	819	0	0	0	1	0	6	819				
VWC2	375567	broad.mit.edu	37	7	49815696	49815696	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:49815696G>A	ENST00000340652.4	+	2	1221	c.665G>A	c.(664-666)gGc>gAc	p.G222D		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	222	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GAGTTCCGGGGCAAGACCTAT	0.617																																						ENST00000340652.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						c.(664-666)gGc>gAc		von Willebrand factor C domain containing 2							18.0	23.0	21.0					7																	49815696		2095	4222	6317	SO:0001583	missense	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49815696G>A	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.665G>A	7.37:g.49815696G>A	ENSP00000341819:p.Gly222Asp						p.G222D	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN			2	1221	+			222			VWFC 2.		Q6UXE2	Missense_Mutation	SNP	ENST00000340652.4	37	c.665G>A	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334557	0.81801	.	.	ENSG00000188730	ENST00000340652	T	0.72615	-0.67	4.84	3.95	0.45737	von Willebrand factor, type C (3);	0.062437	0.64402	D	0.000006	T	0.78641	0.4315	M	0.66939	2.045	0.53005	D	0.999969	P	0.47962	0.903	P	0.57502	0.822	T	0.80425	-0.1388	10	0.59425	D	0.04	.	12.8246	0.57712	0.0796:0.0:0.9204:0.0	.	222	Q2TAL6	VWC2_HUMAN	D	222	ENSP00000341819:G222D	ENSP00000341819:G222D	G	+	2	0	VWC2	49786242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.650000	0.74368	2.383000	0.81215	0.561000	0.74099	GGC		0.617	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		7	19	0	0	0	1	0	7	19				
EXOSC5	56915	broad.mit.edu	37	19	41895788	41895788	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:41895788G>A	ENST00000221233.4	-	4	557	c.407C>T	c.(406-408)gCc>gTc	p.A136V	BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A98V|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	136					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CATGCAGGCGGCATTCAGACA	0.552																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(406-408)gCc>gTc		exosome component 5							55.0	55.0	55.0					19																	41895788		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41895788G>A	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.407C>T	19.37:g.41895788G>A	ENSP00000221233:p.Ala136Val					CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A98V|BCKDHA_ENST00000595085.1_Intron	p.A136V	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			4	557	-			136					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.407C>T	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253259	0.80135	.	.	ENSG00000077348	ENST00000221233	T	0.75938	-0.98	5.03	4.0	0.46444	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.160189	0.53938	N	0.000043	T	0.74831	0.3768	M	0.85630	2.765	0.53005	D	0.999964	P	0.46142	0.873	B	0.38378	0.272	T	0.80605	-0.1308	10	0.87932	D	0	-8.6688	12.5828	0.56399	0.0816:0.0:0.9184:0.0	.	136	Q9NQT4	EXOS5_HUMAN	V	136	ENSP00000221233:A136V	ENSP00000221233:A136V	A	-	2	0	EXOSC5	46587628	1.000000	0.71417	0.875000	0.34327	0.987000	0.75469	6.217000	0.72218	1.488000	0.48433	0.650000	0.86243	GCC		0.552	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		5	380	0	0	0	1	0	5	380				
BMP1	649	broad.mit.edu	37	8	22064900	22064900	+	Missense_Mutation	SNP	C	C	T	rs150161793		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:22064900C>T	ENST00000306385.5	+	18	3116	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	816	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGCCAAGGCCCCCGTCCTCGG	0.627																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2446-2448)Ccc>Tcc		bone morphogenetic protein 1							73.0	80.0	78.0					8																	22064900		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22064900C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2446C>T	8.37:g.22064900C>T	ENSP00000305714:p.Pro816Ser					BMP1_ENST00000354870.5_3'UTR	p.P816S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	18	3116	+			816			CUB 4.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2446C>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927502	0.73327	.	.	ENSG00000168487	ENST00000306385	T	0.30182	1.54	5.26	4.38	0.52667	CUB (5);	0.412825	0.17745	U	0.163437	T	0.34193	0.0889	L	0.48986	1.54	0.80722	D	1	B	0.23540	0.087	B	0.33690	0.168	T	0.08166	-1.0735	10	0.33141	T	0.24	.	14.7938	0.69863	0.0:0.8544:0.1456:0.0	.	816	P13497	BMP1_HUMAN	S	816	ENSP00000305714:P816S	ENSP00000305714:P816S	P	+	1	0	BMP1	22120845	0.989000	0.36119	0.182000	0.23118	0.911000	0.54048	4.070000	0.57548	1.204000	0.43247	0.561000	0.74099	CCC		0.627	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		125	470	0	0	0	1	0	125	470				
AHNAK2	113146	broad.mit.edu	37	14	105412407	105412407	+	Silent	SNP	C	C	A	rs374653111	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:105412407C>A	ENST00000333244.5	-	7	9500	c.9381G>T	c.(9379-9381)ggG>ggT	p.G3127G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3127						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G3127G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACAGGTCCCCCTCCAGCC	0.622													.|||	3	0.000599042	0.0008	0.0	5008	,	,		18147	0.001		0.0	False		,,,				2504	0.001					ENST00000333244.5																			1	Substitution - coding silent(1)	p.G3127G(1)	ovary(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9379-9381)ggG>ggT		AHNAK nucleoprotein 2		A		0,3924		0,0,1962	152.0	129.0	136.0		9381	-6.6	0.0	14		136	2,8232		0,2,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,2,6077	AA,AC,CC		0.0243,0.0,0.0165		3127/5796	105412407	2,12156	1962	4117	6079	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412407C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9381G>T	14.37:g.105412407C>A						AHNAK2_ENST00000557457.1_Intron	p.G3127G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9500	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3127					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9381G>T	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	520	1	0	0.00307968	1	0.00312285	6	520				
KRTAP5-10	387273	broad.mit.edu	37	11	71276936	71276936	+	Silent	SNP	G	G	A	rs527935556	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:71276936G>A	ENST00000398531.1	+	1	328	c.303G>A	c.(301-303)aaG>aaA	p.K101K	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	101	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTCCAAGGGGGGCTGTG	0.692													a|||	7	0.00139776	0.003	0.0	5008	,	,		6316	0.0		0.002	False		,,,				2504	0.001					ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(301-303)aaG>aaA		keratin associated protein 5-10							36.0	55.0	49.0					11																	71276936		2116	4242	6358	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276936G>A	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.303G>A	11.37:g.71276936G>A						KRTAP5-10_ENST00000376536.4_Intron	p.K101K	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	328	+			101			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.303G>A	CCDS41684.1																																																																																				0.692	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			9	1184	0	0	0	1	0	9	1184				
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A	rs371252868		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr21:46011400G>A	ENST00000400368.1	-	1	986	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	322	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S322S(5)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692																																						ENST00000400368.1																			5	Substitution - coding silent(5)	p.S322S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(964-966)tcC>tcT		keratin associated protein 10-6							66.0	81.0	76.0					21																	46011400		2201	4300	6501	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011400G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.966C>T	21.37:g.46011400G>A						TSPEAR_ENST00000323084.4_Intron	p.S322S	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	986	-			322			29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.966C>T	CCDS42959.1																																																																																				0.692	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		5	541	0	0	0	1	0	5	541				
NLRP8	126205	broad.mit.edu	37	19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:56466799G>A	ENST00000291971.3	+	3	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	459	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACTTGGCCGCAGACAGCAT	0.498																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1375-1377)Gca>Aca		NLR family, pyrin domain containing 8							108.0	101.0	104.0					19																	56466799		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466799G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1375G>A	19.37:g.56466799G>A	ENSP00000291971:p.Ala459Thr					NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1446	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	459			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1375G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979924	0.34942	.	.	ENSG00000179709	ENST00000291971	D	0.83837	-1.77	2.04	0.947	0.19555	.	.	.	.	.	D	0.87438	0.6177	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65010	0.928;0.931	T	0.75419	-0.3324	9	0.72032	D	0.01	.	5.6935	0.17843	0.0:0.0:0.6797:0.3203	.	459;459	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	459	ENSP00000291971:A459T	ENSP00000291971:A459T	A	+	1	0	NLRP8	61158611	0.057000	0.20700	0.001000	0.08648	0.002000	0.02628	2.681000	0.46926	0.401000	0.25424	-0.426000	0.05927	GCA		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		7	555	0	0	0	1	0	7	555				
SEMA4C	54910	broad.mit.edu	37	2	97533539	97533539	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:97533539G>A	ENST00000305476.5	-	2	217	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	29					cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTCTTACGCGGCACAAGGTTC	0.642																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(85-87)Ccg>Tcg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							165.0	149.0	155.0					2																	97533539		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97533539G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.85C>T	2.37:g.97533539G>A	ENSP00000306844:p.Pro29Ser						p.P29S	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			2	217	-			29					Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.85C>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312270	0.81358	.	.	ENSG00000168758	ENST00000305476;ENST00000442264;ENST00000449330	T;T;T	0.59638	1.43;0.25;0.25	4.3	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (1);	0.285799	0.25277	N	0.031836	T	0.62097	0.2400	N	0.24115	0.695	0.38811	D	0.955416	D	0.89917	1.0	D	0.97110	1.0	T	0.67968	-0.5533	10	0.87932	D	0	.	12.123	0.53902	0.0:0.0:1.0:0.0	.	29	Q9C0C4	SEM4C_HUMAN	S	29	ENSP00000306844:P29S;ENSP00000393498:P29S;ENSP00000391094:P29S	ENSP00000306844:P29S	P	-	1	0	SEMA4C	96897266	0.004000	0.15560	1.000000	0.80357	0.838000	0.47535	0.611000	0.24268	2.224000	0.72417	0.491000	0.48974	CCG		0.642	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		6	877	0	0	0	1	0	6	877				
METTL7A	25840	broad.mit.edu	37	12	51319018	51319018	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:51319018C>T	ENST00000548553.1	+	2	1178	c.197C>T	c.(196-198)gCg>gTg	p.A66V	METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	66						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)	p.A66V(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAGGAGTTTGCGGGCCCCTCC	0.552																																						ENST00000548553.1																			1	Substitution - Missense(1)	p.A66V(1)	lung(1)	endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						c.(196-198)gCg>gTg		methyltransferase like 7A							41.0	41.0	41.0					12																	51319018		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51319018C>T		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.197C>T	12.37:g.51319018C>T	ENSP00000448785:p.Ala66Val					METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V	p.A66V			Q9H8H3	MET7A_HUMAN			2	1178	+			66					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.197C>T	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439444	0.25900	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.16597	2.33;2.33;2.33	5.0	-1.08	0.09936	.	0.852961	0.10781	N	0.634907	T	0.09598	0.0236	L	0.34521	1.04	0.09310	N	1	B;B	0.16802	0.017;0.019	B;B	0.12837	0.003;0.008	T	0.38993	-0.9635	10	0.20519	T	0.43	-1.5348	2.5233	0.04685	0.1123:0.4458:0.1094:0.3324	.	66;66	B4DDW1;Q9H8H3	.;MET7A_HUMAN	V	66	ENSP00000448785:A66V;ENSP00000450239:A66V;ENSP00000331787:A66V	ENSP00000331787:A66V	A	+	2	0	METTL7A	49605285	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	0.002000	0.13061	-0.304000	0.08843	-0.140000	0.14226	GCG		0.552	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033		4	250	0	0	0	1	0	4	250				
JADE1	79960	broad.mit.edu	37	4	129783124	129783124	+	Missense_Mutation	SNP	G	G	A	rs536855766		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:129783124G>A	ENST00000226319.6	+	9	1527	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	PHF17_ENST00000511647.1_Missense_Mutation_p.R416H|PHF17_ENST00000512960.1_Missense_Mutation_p.R416H|PHF17_ENST00000452328.2_Missense_Mutation_p.R404H|PHF17_ENST00000413543.2_Missense_Mutation_p.R416H	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTGAGTGTCCGTAAGCAGAAG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18532	0.0		0.0	False		,,,				2504	0.001					ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1246-1248)cGt>cAt									106.0	100.0	102.0					4																	129783124		2203	4300	6503	SO:0001583	missense	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129783124G>A																												ENST00000226319.6:c.1247G>A	4.37:g.129783124G>A	ENSP00000226319:p.Arg416His					PHF17_ENST00000413543.2_Missense_Mutation_p.R416H|PHF17_ENST00000452328.2_Missense_Mutation_p.R404H|PHF17_ENST00000512960.1_Missense_Mutation_p.R416H|PHF17_ENST00000511647.1_Missense_Mutation_p.R416H	p.R416H	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			9	1527	+			416						Missense_Mutation	SNP	ENST00000226319.6	37	c.1247G>A	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224990	0.58668	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.49139	0.88;0.79;0.88;0.88;0.79	5.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.73830	-0.3859	9	.	.	.	.	13.6817	0.62489	0.0745:0.0:0.9255:0.0	.	404;416;416	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	H	416;416;404;416;416;416	ENSP00000226319:R416H;ENSP00000423737:R416H;ENSP00000388015:R404H;ENSP00000425730:R416H;ENSP00000404211:R416H	.	R	+	2	0	PHF17	130002574	1.000000	0.71417	0.821000	0.32701	0.166000	0.22503	8.901000	0.92560	1.346000	0.45694	-0.150000	0.13652	CGT		0.607	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			6	498	0	0	0	1	0	6	498				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		16	229	0	0	0	1	0	16	229				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	188	1	0	5.9392e-07	1	6.13717e-07	5	188				
MMRN1	22915	broad.mit.edu	37	4	90872802	90872802	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:90872802G>A	ENST00000394980.1	+	8	3484	c.3165G>A	c.(3163-3165)acG>acA	p.T1055T	MMRN1_ENST00000508372.1_Silent_p.T797T|MMRN1_ENST00000394981.1_Silent_p.T358T|MMRN1_ENST00000264790.2_Silent_p.T1055T			Q13201	MMRN1_HUMAN	multimerin 1	1055	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGGGGGCACGTGCATAAATG	0.433																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3163-3165)acG>acA		multimerin 1							107.0	91.0	97.0					4																	90872802		2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90872802G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3165G>A	4.37:g.90872802G>A						MMRN1_ENST00000264790.2_Silent_p.T1055T|MMRN1_ENST00000508372.1_Silent_p.T797T|MMRN1_ENST00000394981.1_Silent_p.T358T	p.T1055T			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3484	+		Hepatocellular(203;0.114)	1055			EGF-like.		Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.3165G>A	CCDS3635.1																																																																																				0.433	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		95	177	0	0	0	1	0	95	177				
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:135614834C>T	ENST00000377838.3	-	6	1302	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1090-1092)gcG>gcA		zinc finger and AT hook domain containing							74.0	75.0	74.0					8																	135614834		2114	4240	6354	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614834C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1128G>A	8.37:g.135614834C>T						ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A	p.A364A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1391	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		376					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1092G>A	CCDS47924.1																																																																																				0.552	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		7	648	0	0	0	1	0	7	648				
AGAP5	729092	broad.mit.edu	37	10	75457349	75457349	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:75457349G>A	ENST00000374094.4	-	1	205	c.165C>T	c.(163-165)acC>acT	p.T55T	RP11-574K11.28_ENST00000580790.1_RNA|RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000443782.2_Silent_p.T55T	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	55					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.T55T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CAACTTCAACGGTCACCTCAG	0.582																																						ENST00000443782.2																			1	Substitution - coding silent(1)	p.T55T(1)	endometrium(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						c.(163-165)acC>acT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 5							136.0	120.0	125.0					10																	75457349		692	1591	2283	SO:0001819	synonymous_variant	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75457349G>A		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.165C>T	10.37:g.75457349G>A						RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Silent_p.T55T	p.T55T			A6NIR3	AGAP5_HUMAN			1	290	-			55					A8MSN5	Silent	SNP	ENST00000374094.4	37	c.165C>T	CCDS44439.1																																																																																				0.582	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		7	720	0	0	0	1	0	7	720				
KCNG4	93107	broad.mit.edu	37	16	84256037	84256037	+	Missense_Mutation	SNP	G	G	A	rs142742654		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:84256037G>A	ENST00000308251.4	-	3	1414	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	449					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGACGTGGCCGGGAAGGCCAT	0.627																																						ENST00000308251.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(1345-1347)cCg>cTg		potassium voltage-gated channel, subfamily G, member 4		G	LEU/PRO	0,4400		0,0,2200	71.0	70.0	70.0		1346	5.6	1.0	16	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNG4	NM_172347.2	98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	449/520	84256037	1,12999	2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256037G>A	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1346C>T	16.37:g.84256037G>A	ENSP00000312129:p.Pro449Leu						p.P449L	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN			3	1414	-			449					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.1346C>T	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831268	0.91036	0.0	1.16E-4	ENSG00000168418	ENST00000308251	T	0.56103	0.48	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78380	-0.2226	10	0.87932	D	0	.	18.6264	0.91340	0.0:0.0:1.0:0.0	.	449	Q8TDN1	KCNG4_HUMAN	L	449	ENSP00000312129:P449L	ENSP00000312129:P449L	P	-	2	0	KCNG4	82813538	1.000000	0.71417	0.999000	0.59377	1.000000	0.99986	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	CCG		0.627	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		5	477	0	0	0	1	0	5	477				
RAD21	5885	broad.mit.edu	37	8	117869572	117869572	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:117869572G>A	ENST00000297338.2	-	6	909	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	208					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TATTCTAAATGGTTAATTTTC	0.358																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(622-624)Cat>Tat		RAD21 homolog (S. pombe)							147.0	150.0	149.0					8																	117869572		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117869572G>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.622C>T	8.37:g.117869572G>A	ENSP00000297338:p.His208Tyr					RAD21_ENST00000523547.1_5'UTR	p.H208Y	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			6	909	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		208					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.622C>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458476	0.63401	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485	T;T;T	0.53857	0.6;1.51;1.51	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.62723	1.935	0.80722	D	1	D	0.54207	0.965	P	0.47827	0.558	T	0.63225	-0.6685	10	0.52906	T	0.07	-17.6597	19.717	0.96124	0.0:0.0:1.0:0.0	.	208	O60216	RAD21_HUMAN	Y	208	ENSP00000297338:H208Y;ENSP00000429342:H208Y;ENSP00000427923:H208Y	ENSP00000297338:H208Y	H	-	1	0	RAD21	117938753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.161000	0.94739	2.734000	0.93682	0.563000	0.77884	CAT		0.358	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		58	189	0	0	0	1	0	58	189				
BRSK1	84446	broad.mit.edu	37	19	55814225	55814225	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:55814225C>T	ENST00000309383.1	+	10	1295	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	BRSK1_ENST00000326848.7_Missense_Mutation_p.R35C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C|BRSK1_ENST00000585418.1_Missense_Mutation_p.R340C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	340	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCGCGAGCTGCGCAGTGAGGA	0.662																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(1018-1020)Cgc>Tgc		BR serine/threonine kinase 1							56.0	44.0	48.0					19																	55814225		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814225C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1018C>T	19.37:g.55814225C>T	ENSP00000310649:p.Arg340Cys					BRSK1_ENST00000585418.1_Missense_Mutation_p.R340C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C|BRSK1_ENST00000326848.7_Missense_Mutation_p.R35C	p.R340C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	10	1295	+		Renal(1328;0.245)	340			UBA.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1018C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	16.92	3.256628	0.59321	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.72167	-0.63;1.95	4.69	3.62	0.41486	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.301128	0.28865	N	0.013882	T	0.66157	0.2761	N	0.08118	0	0.49483	D	0.999797	D;D	0.71674	0.996;0.998	P;P	0.61201	0.771;0.885	T	0.72620	-0.4238	10	0.72032	D	0.01	.	13.1288	0.59369	0.1618:0.8382:0.0:0.0	.	340;356	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	C	340;35;35	ENSP00000310649:R340C;ENSP00000320853:R35C	ENSP00000310649:R340C	R	+	1	0	BRSK1	60506037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.281000	0.43452	1.075000	0.40932	0.655000	0.94253	CGC		0.662	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		67	188	0	0	0	1	0	67	188				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C						GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		7	152	0	0	0	1	0	7	152				
KRTAP5-3	387266	broad.mit.edu	37	11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G	rs548851553		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:1629152C>G	ENST00000399685.1	-	1	541	c.464G>C	c.(463-465)tGc>tCc	p.C155S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627													c|||	1	0.000199681	0.0	0.0	5008	,	,		16593	0.0		0.0	False		,,,				2504	0.001					ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(463-465)tGc>tCc		keratin associated protein 5-3							130.0	142.0	138.0					11																	1629152		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629152C>G	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.464G>C	11.37:g.1629152C>G	ENSP00000382592:p.Cys155Ser						p.C155S	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	541	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	155			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.464G>C	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226901	0.22542	.	.	ENSG00000196224	ENST00000399685	T	0.01527	4.8	3.33	3.33	0.38152	.	.	.	.	.	T	0.09598	0.0236	M	0.83012	2.62	0.33018	D	0.528479	D	0.65815	0.995	D	0.63793	0.918	T	0.04976	-1.0914	9	0.62326	D	0.03	.	12.975	0.58532	0.0:1.0:0.0:0.0	.	155	Q6L8H2	KRA53_HUMAN	S	155	ENSP00000382592:C155S	ENSP00000382592:C155S	C	-	2	0	KRTAP5-3	1585728	.	.	0.662000	0.29724	0.024000	0.10985	.	.	1.809000	0.52856	0.281000	0.19383	TGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			8	1276	0	0	0	1	0	8	1276				
ZNF184	7738	broad.mit.edu	37	6	27420760	27420760	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:27420760A>T	ENST00000211936.6	-	6	862	c.578T>A	c.(577-579)cTt>cAt	p.L193H	ZNF184_ENST00000377419.1_Missense_Mutation_p.L193H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTGTGTTACAAGGTTTGAACT	0.368																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(577-579)cTt>cAt		zinc finger protein 184							230.0	228.0	229.0					6																	27420760		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420760A>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.578T>A	6.37:g.27420760A>T	ENSP00000211936:p.Leu193His					ZNF184_ENST00000377419.1_Missense_Mutation_p.L193H	p.L193H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	862	-			193					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.578T>A	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222112	0.58560	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.08370	3.1;3.1	5.32	0.257	0.15574	.	0.879076	0.09630	N	0.776357	T	0.06371	0.0164	M	0.91300	3.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	10	0.54805	T	0.06	.	7.6793	0.28505	0.642:0.0:0.358:0.0	.	193	Q99676	ZN184_HUMAN	H	193	ENSP00000211936:L193H;ENSP00000366636:L193H	ENSP00000211936:L193H	L	-	2	0	ZNF184	27528739	0.003000	0.15002	0.002000	0.10522	0.577000	0.36160	1.919000	0.40015	0.147000	0.19030	0.454000	0.30748	CTT		0.368	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		73	566	0	0	0	1	0	73	566				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			10	209	0	0	0	1	0	10	209				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			5	261	0	0	0	1	0	5	261				
ZNF721	170960	broad.mit.edu	37	4	436628	436628	+	Missense_Mutation	SNP	A	A	T	rs200851544		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:436628A>T	ENST00000338977.5	-	2	1640	c.1592T>A	c.(1591-1593)aTc>aAc	p.I531N	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.I543N|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TACATAAAGGATTGCGGACTG	0.403																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1591-1593)aTc>aAc		zinc finger protein 721							89.0	97.0	95.0					4																	436628		2112	4261	6373	SO:0001583	missense	170960							g.chr4:436628A>T	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1592T>A	4.37:g.436628A>T	ENSP00000340524:p.Ile531Asn					ZNF721_ENST00000511833.2_Missense_Mutation_p.I543N|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA	p.I531N							2	1640	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1592T>A		.	.	.	.	.	.	.	.	.	.	A	0.663	-0.804997	0.02819	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.07216	3.21;3.21	1.28	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.00335	-1.625	0.09310	N	1	D;P;P	0.57571	0.98;0.563;0.689	D;B;B	0.66979	0.948;0.192;0.352	T	0.11397	-1.0589	9	0.08179	T	0.78	.	1.5698	0.02612	0.4482:0.0:0.251:0.3008	.	531;543;543	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	N	531;543	ENSP00000340524:I531N;ENSP00000428878:I543N	ENSP00000340524:I531N	I	-	2	0	ZNF721	426628	0.000000	0.05858	0.000000	0.03702	0.692000	0.40212	-2.599000	0.00893	-1.109000	0.02996	0.155000	0.16302	ATC		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		7	454	0	0	0	1	0	7	454				
TRIP11	9321	broad.mit.edu	37	14	92470905	92470905	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470905C>T	ENST00000267622.4	-	11	3788	c.3415G>A	c.(3415-3417)Gaa>Aaa	p.E1139K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1139					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTTTATTTTCATCTTGCAGT	0.338			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3415-3417)Gaa>Aaa		thyroid hormone receptor interactor 11							65.0	61.0	62.0					14																	92470905		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470905C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3415G>A	14.37:g.92470905C>T	ENSP00000267622:p.Glu1139Lys						p.E1139K	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3788	-			1139					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3415G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785706	0.49997	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.07444	3.19	5.27	4.36	0.52297	.	0.167607	0.51477	D	0.000096	T	0.19725	0.0474	L	0.34521	1.04	0.50632	D	0.999884	D;D	0.89917	1.0;1.0	D;D	0.91635	0.982;0.999	T	0.01156	-1.1434	10	0.62326	D	0.03	.	15.583	0.76459	0.0:0.8616:0.1384:0.0	.	875;1139	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	1139;875	ENSP00000267622:E1139K	ENSP00000267622:E1139K	E	-	1	0	TRIP11	91540658	1.000000	0.71417	0.729000	0.30791	0.253000	0.25986	7.773000	0.85462	1.158000	0.42547	0.563000	0.77884	GAA		0.338	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			4	113	0	0	0	1	0	4	113				
NACA	4666	broad.mit.edu	37	12	57111554	57111554	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:57111554C>T	ENST00000454682.1	-	3	4041	c.3760G>A	c.(3760-3762)Ggc>Agc	p.G1254S	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1254	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTAGCTGGGCCTCCTTTTGGG	0.662			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3760-3762)Ggc>Agc		nascent polypeptide-associated complex alpha subunit							45.0	66.0	60.0					12																	57111554		1198	2854	4052	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111554C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3760G>A	12.37:g.57111554C>T	ENSP00000403817:p.Gly1254Ser					NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	p.G1254S	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4041	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3760G>A		.	.	.	.	.	.	.	.	.	.	c	8.234	0.805325	0.16467	.	.	ENSG00000196531	ENST00000454682	T	0.47177	0.85	3.77	1.86	0.25419	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.09310	N	1	B	0.30281	0.275	B	0.26614	0.071	T	0.15607	-1.0431	7	.	.	.	.	4.6883	0.12769	0.3776:0.513:0.0:0.1094	.	1254	E9PAV3	.	S	1254	ENSP00000403817:G1254S	.	G	-	1	0	NACA	55397821	0.017000	0.18338	0.000000	0.03702	0.016000	0.09150	-0.133000	0.10451	0.095000	0.17434	-0.706000	0.03657	GGC		0.662	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		6	790	0	0	0	1	0	6	790				
TCHH	7062	broad.mit.edu	37	1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	rs113946258	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3472-3474)cCg>cGg		trichohyalin							71.0	70.0	70.0					1																	152082220		1986	4171	6157	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082220G>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3473C>G	1.37:g.152082220G>C	ENSP00000357794:p.Pro1158Arg						p.P1158R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3472	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1158			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3473C>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	1.340	-0.594289	0.03771	.	.	ENSG00000159450	ENST00000368804	T	0.04603	3.59	1.86	-3.72	0.04411	.	.	.	.	.	T	0.00412	0.0013	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	9	0.16420	T	0.52	.	1.558	0.02589	0.2814:0.2588:0.3346:0.1252	.	1158	Q07283	TRHY_HUMAN	R	1158	ENSP00000357794:P1158R	ENSP00000357794:P1158R	P	-	2	0	TCHH	150348844	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	-6.257000	0.00073	-1.230000	0.02561	-1.439000	0.01073	CCG		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	348	0	0	0	1	0	8	348				
PDZRN3	23024	broad.mit.edu	37	3	73440202	73440202	+	Silent	SNP	G	G	A	rs538722275		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:73440202G>A	ENST00000263666.4	-	6	1434	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	PDZRN3_ENST00000535920.1_Silent_p.D162D|PDZRN3_ENST00000466780.1_Silent_p.D97D|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Silent_p.D97D|PDZRN3_ENST00000479530.1_Silent_p.D157D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	440	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGTCTTCATCGTCCGTCCGGT	0.443																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1318-1320)gaC>gaT		PDZ domain containing ring finger 3							274.0	254.0	261.0					3																	73440202		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73440202G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1320C>T	3.37:g.73440202G>A						PDZRN3_ENST00000479530.1_Silent_p.D157D|PDZRN3_ENST00000535920.1_Silent_p.D162D|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Silent_p.D97D|PDZRN3_ENST00000466780.1_Silent_p.D97D	p.D440D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	6	1434	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	440			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1320C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	8.064	0.768692	0.15983	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.18	-9.21	0.00678	.	.	.	.	.	T	0.66327	0.2778	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74100	-0.3774	4	.	.	.	.	20.3542	0.98835	0.8963:0.0:0.1037:0.0	.	.	.	.	M	37	.	.	T	-	2	0	PDZRN3	73522892	0.432000	0.25554	0.086000	0.20670	0.897000	0.52465	-0.105000	0.10907	-1.917000	0.01074	-0.880000	0.02959	ACG		0.443	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		27	835	0	0	0	1	0	27	835				
MUC4	4585	broad.mit.edu	37	3	195516676	195516676	+	Missense_Mutation	SNP	G	G	A	rs372270518		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:195516676G>A	ENST00000463781.3	-	2	2234	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T592M|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	597					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGATGTGGCCGTTTTTATCAT	0.493													g|||	1	0.000199681	0.0	0.0	5008	,	,		20063	0.0		0.001	False		,,,				2504	0.0					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1774-1776)aCg>aTg		mucin 4, cell surface associated			MET/THR,,	0,4080		0,0,2040	441.0	423.0	429.0		1775,,	-0.2	0.0	3		429	3,8403		0,3,4200	no	missense,intron,intron	MUC4	NM_018406.6,NM_004532.5,NM_138297.4	81,,	0,3,6240	AA,AG,GG		0.0357,0.0,0.024	probably-damaging,,	592/5413,,	195516676	3,12483	2040	4203	6243	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516676G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1775C>T	3.37:g.195516676G>A	ENSP00000417498:p.Thr592Met					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T592M	p.T592M	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2234	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	597					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1775C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	1.606	-0.525296	0.04141	0.0	3.57E-4	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.46819	0.86;0.87	1.67	-0.244	0.13031	.	.	.	.	.	T	0.27697	0.0681	N	0.14661	0.345	0.09310	N	1	D;D	0.64830	0.994;0.991	B;B	0.43867	0.434;0.25	T	0.15578	-1.0432	9	0.66056	D	0.02	.	4.1595	0.10277	0.394:0.0:0.606:0.0	.	592;597	E7ESK3;Q99102	.;MUC4_HUMAN	M	592;592;566	ENSP00000417498:T592M;ENSP00000420243:T592M	ENSP00000376209:T566M	T	-	2	0	MUC4	197001071	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.335000	0.19806	-0.079000	0.12707	0.531000	0.56144	ACG		0.493	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		8	1467	0	0	0	1	0	8	1467				
EPS8L2	64787	broad.mit.edu	37	11	722431	722431	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:722431G>A	ENST00000533256.1	+	14	1465	c.1090G>A	c.(1090-1092)Gca>Aca	p.A364T	EPS8L2_ENST00000318562.8_Missense_Mutation_p.A364T|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A364T|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A380T			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	364					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGACATCGCACGCTCCGT	0.647																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1090-1092)Gca>Aca		EPS8-like 2							87.0	74.0	79.0					11																	722431		2203	4300	6503	SO:0001583	missense	64787					cytoplasm		g.chr11:722431G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1090G>A	11.37:g.722431G>A	ENSP00000435585:p.Ala364Thr					AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A364T|EPS8L2_ENST00000318562.8_Missense_Mutation_p.A364T|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A380T	p.A364T			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1465	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	364					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1090G>A	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.992138	0.35131	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	3.13	2.2	0.27929	.	0.089102	0.43919	U	0.000514	T	0.67896	0.2942	M	0.69823	2.125	0.09310	N	1	D;D	0.89917	0.999;1.0	P;P	0.61275	0.886;0.87	T	0.59225	-0.7494	10	0.87932	D	0	-11.1368	9.2022	0.37265	0.1144:0.0:0.8856:0.0	.	380;364	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	T	364;364;364;380	ENSP00000320828:A364T;ENSP00000435585:A364T;ENSP00000436035:A364T;ENSP00000436230:A380T	ENSP00000320828:A364T	A	+	1	0	EPS8L2	712431	0.964000	0.33143	0.005000	0.12908	0.689000	0.40095	3.519000	0.53458	0.664000	0.31047	0.486000	0.48141	GCA		0.647	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		5	258	0	0	0	1	0	5	258				
RBMS1	5937	broad.mit.edu	37	2	161159916	161159916	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:161159916T>C	ENST00000348849.3	-	5	915	c.485A>G	c.(484-486)aAa>aGa	p.K162R	RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R|RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R|RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	162	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								TCCAAATGGTTTGAGCATATT	0.413																																						ENST00000348849.3																		PLA2R1/RBMS1(2)	0											c.(484-486)aAa>aGa		RNA binding motif, single stranded interacting protein 1							155.0	136.0	142.0					2																	161159916		2203	4300	6503	SO:0001583	missense	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161159916T>C	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.485A>G	2.37:g.161159916T>C	ENSP00000294904:p.Lys162Arg					RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R|RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R|RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R|RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000474820.1_5'UTR	p.K162R	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN			5	915	-			162			RRM 2.		Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	c.485A>G	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.291114	0.80914	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	N	0.25144	0.715	0.80722	D	1	B;B;B;P;B;B;B	0.51449	0.004;0.118;0.009;0.945;0.128;0.002;0.008	B;B;B;D;B;B;B	0.71870	0.02;0.275;0.07;0.975;0.179;0.044;0.131	T	0.04360	-1.0957	10	0.54805	T	0.06	.	15.9541	0.79871	0.0:0.0:0.0:1.0	.	129;28;162;162;28;129;162	D3DPB2;Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;.;RBMS1_HUMAN;.;.;.;.	R	162;129;129;162;129	ENSP00000294904:K162R;ENSP00000386347:K129R;ENSP00000386571:K129R;ENSP00000376508:K162R;ENSP00000387280:K129R	ENSP00000294904:K162R	K	-	2	0	RBMS1	160868162	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.163000	0.67991	0.533000	0.62120	AAA		0.413	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		50	294	0	0	0	1	0	50	294				
PLXNB2	23654	broad.mit.edu	37	22	50716129	50716129	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:50716129G>C	ENST00000449103.1	-	33	5227	c.5087C>G	c.(5086-5088)cCc>cGc	p.P1696R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1696R			O15031	PLXB2_HUMAN	plexin B2	1696					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATGAAGTGGGGGTTCTTGAG	0.627																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5086-5088)cCc>cGc		plexin B2							66.0	74.0	72.0					22																	50716129		2134	4260	6394	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716129G>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5087C>G	22.37:g.50716129G>C	ENSP00000409171:p.Pro1696Arg					PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1696R	p.P1696R			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	33	5227	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1696					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.5087C>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515467	0.85389	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.70045	-0.45;-0.45	4.21	4.21	0.49690	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.084908	0.50627	D	0.000119	D	0.85265	0.5657	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89427	0.3714	10	0.87932	D	0	.	16.7466	0.85474	0.0:0.0:1.0:0.0	.	1696	O15031	PLXB2_HUMAN	R	1696;1696;326	ENSP00000409171:P1696R;ENSP00000352288:P1696R	ENSP00000352288:P1696R	P	-	2	0	PLXNB2	49058256	1.000000	0.71417	0.948000	0.38648	0.954000	0.61252	9.181000	0.94874	2.170000	0.68504	0.491000	0.48974	CCC		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		76	294	0	0	0	1	0	76	294				
LOC101243545	101243545	broad.mit.edu	37	3	161146937	161146937	+	lincRNA	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:161146937G>A	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						AATTTTGTTGGCAACATCCAA	0.378																																						ENST00000473595.1																			0																				71.0	81.0	77.0					3																	161146937		1442	2583	4025			0							g.chr3:161146937G>A																													3.37:g.161146937G>A						RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1						0	1231	+									RNA	SNP	ENST00000473595.1	37																																																																																						0.378	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			5	350	0	0	0	1	0	5	350				
GPR18	2841	broad.mit.edu	37	13	99907388	99907388	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr13:99907388G>A	ENST00000340807.3	-	3	1295	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	GPR18_ENST00000397470.2_Missense_Mutation_p.P247S|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.P247S|UBAC2_ENST00000376440.2_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	247					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	ATGTGGAAGGGCATAAAGCAG	0.527																																						ENST00000340807.3																			0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(739-741)Ccc>Tcc		G protein-coupled receptor 18	Glycine(DB00145)						200.0	151.0	168.0					13																	99907388		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907388G>A	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.739C>T	13.37:g.99907388G>A	ENSP00000343428:p.Pro247Ser					UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.P247S|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.P247S	p.P247S			Q14330	GPR18_HUMAN			3	1295	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		247					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.739C>T	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722418	0.89298	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.80304	-1.36;-1.36;-1.36	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92143	0.7509	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92507	0.6013	9	.	.	.	-21.4099	20.2187	0.98312	0.0:0.0:1.0:0.0	.	247	Q14330	GPR18_HUMAN	S	247	ENSP00000380613:P247S;ENSP00000380610:P247S;ENSP00000343428:P247S	.	P	-	1	0	GPR18	98705389	1.000000	0.71417	0.904000	0.35570	0.964000	0.63967	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	CCC		0.527	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			5	421	0	0	0	1	0	5	421				
C4A	720	broad.mit.edu	37	6	31964274	31964274	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:31964274C>T	ENST00000428956.2	+	28	3657	c.3573C>T	c.(3571-3573)caC>caT	p.H1191H	C4A_ENST00000498271.1_Silent_p.H1191H	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1191					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TGGGTGCCCACGCAGCTGCCA	0.592																																						ENST00000428956.2																			0											c.(3571-3573)caC>caT		complement component 4A (Rodgers blood group)							63.0	76.0	72.0					6																	31964274		1553	3533	5086	SO:0001819	synonymous_variant	720							g.chr6:31964274C>T	L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"""Blood group antigens"", ""Complement system"""	1323	protein-coding gene	gene with protein product		120810	"""complement component 4A"""				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3573C>T	6.37:g.31964274C>T						C4A_ENST00000498271.1_Silent_p.H1191H	p.H1191H	NM_007293.2	NP_009224.2					28	3657	+								A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Silent	SNP	ENST00000428956.2	37	c.3573C>T	CCDS47404.1																																																																																				0.592	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		18	517	0	0	0	1	0	18	517				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	712	0	0	0	1	0	7	712				
CSMD1	64478	broad.mit.edu	37	8	2876088	2876088	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:2876088G>A	ENST00000520002.1	-	53	8498	c.7943C>T	c.(7942-7944)aCg>aTg	p.T2648M	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2648M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2647M|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2648	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTGTTGCACGTAAATATAGC	0.488																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(7942-7944)aCg>aTg		CUB and Sushi multiple domains 1							173.0	170.0	171.0					8																	2876088		1971	4153	6124	SO:0001583	missense	64478					integral to membrane		g.chr8:2876088G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7943C>T	8.37:g.2876088G>A	ENSP00000430733:p.Thr2648Met					CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2647M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2648M|CSMD1_ENST00000400186.3_Intron	p.T2648M			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	53	8498	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2648			Sushi 17.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7943C>T		.	.	.	.	.	.	.	.	.	.	G	7.154	0.584431	0.13749	.	.	ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824	T;T	0.66995	-0.24;-0.24	5.19	5.19	0.71726	Complement control module (2);Sushi/SCR/CCP (3);	0.071832	0.56097	D	0.000030	T	0.68751	0.3035	M	0.81614	2.55	0.41106	D	0.9857	P;B	0.39404	0.672;0.41	B;B	0.32533	0.058;0.147	T	0.76531	-0.2925	10	0.72032	D	0.01	.	19.093	0.93235	0.0:0.0:1.0:0.0	.	2648;2648	E5RIG2;Q96PZ7	.;CSMD1_HUMAN	M	2648;2509;2647	ENSP00000430733:T2648M;ENSP00000441462:T2647M	ENSP00000320445:T2509M	T	-	2	0	CSMD1	2863495	0.998000	0.40836	0.170000	0.22879	0.006000	0.05464	2.942000	0.49018	2.578000	0.87016	0.655000	0.94253	ACG		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	862	0	0	0	1	0	7	862				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	739	0	0	0	1	0	8	739				
CNTN5	53942	broad.mit.edu	37	11	99872865	99872865	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:99872865G>A	ENST00000524871.1	+	9	1267	c.977G>A	c.(976-978)gGc>gAc	p.G326D	CNTN5_ENST00000279463.3_Missense_Mutation_p.G326D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G252D|CNTN5_ENST00000528682.1_Missense_Mutation_p.G326D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G326D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	326	Ig-like C2-type 3.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTGCACTTGGCAAGTAAGTA	0.358																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(976-978)gGc>gAc		contactin 5							81.0	78.0	79.0					11																	99872865		1853	4086	5939	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99872865G>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.977G>A	11.37:g.99872865G>A	ENSP00000435637:p.Gly326Asp					CNTN5_ENST00000528682.1_Missense_Mutation_p.G326D|CNTN5_ENST00000279463.3_Missense_Mutation_p.G326D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G326D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G252D	p.G326D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	9	1267	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	326			Ig-like C2-type 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.977G>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872029	0.91587	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94479	0.8223	H	0.98738	4.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96454	0.9336	10	0.87932	D	0	.	18.779	0.91924	0.0:0.0:1.0:0.0	.	326;252;326	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	326;326;326;252;326	ENSP00000433575:G326D;ENSP00000436185:G326D;ENSP00000435637:G326D;ENSP00000393229:G252D;ENSP00000279463:G326D	ENSP00000279463:G326D	G	+	2	0	CNTN5	99378075	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.682000	0.91365	0.591000	0.81541	GGC		0.358	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		3	40	0	0	0	1	0	3	40				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	772	0	0	0	1	0	6	772				
POU2F1	5451	broad.mit.edu	37	1	167343484	167343484	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:167343484C>A	ENST00000541643.3	+	7	635	c.473C>A	c.(472-474)gCc>gAc	p.A158D	POU2F1_ENST00000452019.1_Missense_Mutation_p.A158D|POU2F1_ENST00000420254.3_Missense_Mutation_p.A158D|POU2F1_ENST00000367862.5_Missense_Mutation_p.A170D|POU2F1_ENST00000367866.2_Missense_Mutation_p.A181D|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000367865.1_3'UTR			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	158					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCCTCTGCTGCCACGCCCATG	0.617																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(508-510)gCc>gAc		POU class 2 homeobox 1							26.0	26.0	26.0					1																	167343484		2203	4299	6502	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167343484C>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.473C>A	1.37:g.167343484C>A	ENSP00000441285:p.Ala158Asp					POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.A158D|POU2F1_ENST00000452019.1_Missense_Mutation_p.A158D|POU2F1_ENST00000367866.2_Missense_Mutation_p.A181D|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000420254.3_Missense_Mutation_p.A158D	p.A170D	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			6	744	+			158					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.509C>A		.	.	.	.	.	.	.	.	.	.	C	37	6.377326	0.97520	.	.	ENSG00000143190	ENST00000367866;ENST00000452019;ENST00000492850;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.77	5.77	0.91146	.	0.167697	0.37530	N	0.002053	D	0.84188	0.5417	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.85130	0.991;0.996;0.997;0.99	D	0.84611	0.0678	10	0.72032	D	0.01	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	158;170;156;158	P14859-4;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	D	181;158;35;156;158;158;170;66	ENSP00000356840:A181D;ENSP00000391523:A158D;ENSP00000356839:A156D;ENSP00000414660:A158D;ENSP00000441285:A158D;ENSP00000356836:A170D;ENSP00000415993:A66D	ENSP00000356836:A170D	A	+	2	0	POU2F1	165610108	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.453000	0.80700	2.732000	0.93576	0.650000	0.86243	GCC		0.617	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		5	167	1	0	1	1	1	5	167				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	769	0	0	0	1	0	6	769				
CFH	3075	broad.mit.edu	37	1	196714957	196714957	+	Silent	SNP	A	A	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:196714957A>C	ENST00000367429.4	+	21	3561	c.3321A>C	c.(3319-3321)ggA>ggC	p.G1107G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1107	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTCTACAGGAAAATGTGGGC	0.398																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3319-3321)ggA>ggC		complement factor H							160.0	152.0	155.0					1																	196714957		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196714957A>C	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3321A>C	1.37:g.196714957A>C							p.G1107G	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			21	3561	+			1107			Sushi 19.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3321A>C	CCDS1385.1																																																																																				0.398	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		138	417	0	0	0	1	0	138	417				
TAF1	6872	broad.mit.edu	37	X	70603864	70603864	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:70603864G>A	ENST00000373790.4	+	13	2048	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H	TAF1_ENST00000423759.1_Missense_Mutation_p.R687H|TAF1_ENST00000449580.1_Missense_Mutation_p.R666H|TAF1_ENST00000276072.3_Missense_Mutation_p.R687H	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	666	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTTTTTATGCGCACACCTCAG	0.453																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1996-1998)cGc>cAc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							220.0	177.0	192.0					X																	70603864		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603864G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1997G>A	X.37:g.70603864G>A	ENSP00000362895:p.Arg666His					TAF1_ENST00000373790.4_Missense_Mutation_p.R666H|TAF1_ENST00000423759.1_Missense_Mutation_p.R687H|TAF1_ENST00000276072.3_Missense_Mutation_p.R687H	p.R666H			P21675	TAF1_HUMAN			13	2048	+	Renal(35;0.156)	all_lung(315;0.000321)	666					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.1997G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	32	5.171413	0.94807	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10960	2.82;2.89;2.87;2.82	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.04140	-1.0974	10	0.87932	D	0	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	666;687	P21675;P21675-2	TAF1_HUMAN;.	H	666;666;687;687	ENSP00000362895:R666H;ENSP00000389000:R666H;ENSP00000406549:R687H;ENSP00000276072:R687H	ENSP00000276072:R687H	R	+	2	0	TAF1	70520589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.474000	0.83562	0.600000	0.82982	CGC		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		5	557	0	0	0	1	0	5	557				
SMG1	23049	broad.mit.edu	37	16	18858860	18858860	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:18858860G>A	ENST00000446231.2	-	38	6323	c.5911C>T	c.(5911-5913)Ctg>Ttg	p.L1971L	SMG1_ENST00000389467.3_Silent_p.L1971L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1971	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTGTTGCAGCAAAACTCCC	0.493																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(5911-5913)Ctg>Ttg		SMG1 phosphatidylinositol 3-kinase-related kinase							118.0	119.0	119.0					16																	18858860		2114	4241	6355	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18858860G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5911C>T	16.37:g.18858860G>A						SMG1_ENST00000389467.3_Silent_p.L1971L	p.L1971L			Q96Q15	SMG1_HUMAN			38	6323	-			1971			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.5911C>T	CCDS45430.1																																																																																				0.493	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		7	400	0	0	0	1	0	7	400				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	759	0	0	0	1	0	6	759				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		5	425	0	0	0	1	0	5	425				
FAM102A	399665	broad.mit.edu	37	9	130712784	130712784	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr9:130712784G>A	ENST00000373095.1	-	4	707	c.332C>T	c.(331-333)gCg>gTg	p.A111V	FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	111										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GCCCGAGCCCGCAAACTCGGC	0.632																																						ENST00000373095.1																			0				breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						c.(331-333)gCg>gTg		family with sequence similarity 102, member A							103.0	90.0	94.0					9																	130712784		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130712784G>A		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.332C>T	9.37:g.130712784G>A	ENSP00000362187:p.Ala111Val					FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_5'UTR	p.A111V	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN			4	707	-			111					A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.332C>T	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943040	0.73672	.	.	ENSG00000167106	ENST00000373095	T	0.44881	0.91	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71974	-0.4430	10	0.19147	T	0.46	-8.445	17.1174	0.86692	0.0:0.0:1.0:0.0	.	111	Q5T9C2	F102A_HUMAN	V	111	ENSP00000362187:A111V	ENSP00000362187:A111V	A	-	2	0	FAM102A	129752605	1.000000	0.71417	0.187000	0.23214	0.100000	0.18952	9.758000	0.98927	2.362000	0.80069	0.462000	0.41574	GCG		0.632	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			7	383	0	0	0	1	0	7	383				
HSFY1P1	27437	broad.mit.edu	37	22	17308496	17308496	+	RNA	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:17308496G>A	ENST00000425038.1	+	0	133					NR_003607.1				heat shock transcription factor, Y-linked 1 pseudogene 1																		GAATCAACTGGTTCAAAAGCC	0.408																																						ENST00000425038.1																			0																																																			0							g.chr22:17308496G>A	AY026053		22q11.2	2010-08-04	2010-08-04	2010-08-04	ENSG00000229027	ENSG00000229027			1846	pseudogene	pseudogene			"""cat eye syndrome chromosome region, candidate 8"", ""cat eye syndrome chromosome region, candidate 8 (non-protein coding)"""	CECR8		11381032	Standard	NR_003607		Approved	HSFYP1, HSFYL1	uc010gqr.1		OTTHUMG00000143727		22.37:g.17308496G>A								NR_003607.1						0	133	+									RNA	SNP	ENST00000425038.1	37																																																																																						0.408	HSFY1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000289790.2	NR_003607		17	42	0	0	0	1	0	17	42				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G	rs202030378|rs372212945	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:72664015C>G	ENST00000425256.1	-	0	885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCC	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72664015C>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664015C>G								NR_002164.1						0	885	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		5	83	0	0	0	1	0	5	83				
NFKBIB	4793	broad.mit.edu	37	19	39395723	39395723	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:39395723G>A	ENST00000313582.5	+	2	282	c.248G>A	c.(247-249)gGc>gAc	p.G83D	NFKBIB_ENST00000392079.3_Missense_Mutation_p.G51D|NFKBIB_ENST00000572515.1_Missense_Mutation_p.G83D	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	83					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TTCTCGGCCGGCACTGAGTAC	0.587																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000392079.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(151-153)gGc>gAc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							164.0	159.0	161.0					19																	39395723		2203	4300	6503	SO:0001583	missense	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39395723G>A	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.248G>A	19.37:g.39395723G>A	ENSP00000312988:p.Gly83Asp					NFKBIB_ENST00000313582.5_Missense_Mutation_p.G83D|NFKBIB_ENST00000572515.1_Missense_Mutation_p.G83D	p.G51D			Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	250	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		83					A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.152G>A	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	G	4.067	0.010258	0.07912	.	.	ENSG00000104825	ENST00000509705;ENST00000313582;ENST00000392079	T;T	0.60424	0.19;0.69	4.94	3.91	0.45181	Ankyrin repeat-containing domain (4);	0.122338	0.37304	N	0.002151	T	0.33147	0.0853	N	0.02111	-0.68	0.09310	N	1	B;P;B	0.40107	0.409;0.703;0.409	B;B;B	0.42771	0.397;0.276;0.275	T	0.19160	-1.0314	10	0.41790	T	0.15	-22.9371	10.3219	0.43771	0.0919:0.0:0.9081:0.0	.	106;51;83	Q59EM7;G5E9C2;Q15653	.;.;IKBB_HUMAN	D	106;83;51	ENSP00000312988:G83D;ENSP00000375929:G51D	ENSP00000312988:G83D	G	+	2	0	NFKBIB	44087563	0.982000	0.34865	0.032000	0.17829	0.013000	0.08279	3.526000	0.53509	1.292000	0.44672	0.655000	0.94253	GGC		0.587	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		6	913	0	0	0	1	0	6	913				
GLDN	342035	broad.mit.edu	37	15	51696848	51696848	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:51696848C>T	ENST00000335449.6	+	10	1609	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	518	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTGTTCTTGCCATGTTAGCA	0.378																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1552-1554)gCc>gTc		gliomedin							145.0	141.0	142.0					15																	51696848		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696848C>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1553C>T	15.37:g.51696848C>T	ENSP00000335196:p.Ala518Val					GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	p.A518V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1609	+			518			Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1553C>T	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230301	0.95207	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.89123	-2.47;-2.47	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.43110	D	0.000613	D	0.92899	0.7741	L	0.46741	1.465	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.91752	0.5413	10	0.42905	T	0.14	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	518	Q6ZMI3	GLDN_HUMAN	V	518;394;394	ENSP00000335196:A518V;ENSP00000379681:A394V	ENSP00000335196:A518V	A	+	2	0	GLDN	49484140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.758000	0.94735	0.563000	0.77884	GCC		0.378	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		5	598	0	0	0	1	0	5	598				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		25	73	0	0	0	1	0	25	73				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1																			6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)																																																0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C														0	1111	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	264	0	0	0	1	0	6	264				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	290	0	0	0	1	0	6	290				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		13	136	0	0	0	1	0	13	136				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		6	124	0	0	0	1	0	6	124				
CPT1B	1375	broad.mit.edu	37	22	51015372	51015372	+	Missense_Mutation	SNP	G	G	A	rs569675787		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:51015372G>A	ENST00000360719.2	-	4	510	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000395650.2_Missense_Mutation_p.R125C|CPT1B_ENST00000312108.7_Missense_Mutation_p.R125C|CPT1B_ENST00000457250.1_Missense_Mutation_p.R125C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.R125C|CPT1B_ENST00000440709.1_Missense_Mutation_p.R125C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	125					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGGGTTTGGCGGAAGAAGAAG	0.587											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(373-375)Cgc>Tgc		carnitine palmitoyltransferase 1B (muscle)							132.0	137.0	135.0					22																	51015372		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51015372G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.373C>T	22.37:g.51015372G>A	ENSP00000353945:p.Arg125Cys		OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	974	CPT1B_ENST00000312108.7_Missense_Mutation_p.R125C|CPT1B_ENST00000395650.2_Missense_Mutation_p.R125C|CPT1B_ENST00000457250.1_Missense_Mutation_p.R125C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.R125C|CPT1B_ENST00000440709.1_Missense_Mutation_p.R125C	p.R125C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	4	510	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	125					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.373C>T	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169032	0.78339	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.97110	0.997;0.852;1.0	D	0.92986	0.6410	10	0.87932	D	0	-26.6824	16.7373	0.85449	0.0:0.0:1.0:0.0	.	125;125;125	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	C	125	ENSP00000385486:R125C;ENSP00000312189:R125C;ENSP00000353945:R125C;ENSP00000409342:R125C;ENSP00000414713:R125C;ENSP00000379011:R125C;ENSP00000406316:R125C	ENSP00000312189:R125C	R	-	1	0	CPT1B	49362238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.817000	0.62650	2.561000	0.86390	0.561000	0.74099	CGC		0.587	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		5	615	0	0	0	1	0	5	615				
DPY19L2P1	554236	broad.mit.edu	37	7	35131548	35131548	+	RNA	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:35131548G>A	ENST00000436258.1	-	0	1821							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TGGCACCTGCGAAGACAGCAT	0.388																																						ENST00000436258.1																			0																																																			0							g.chr7:35131548G>A	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131548G>A														0	1821	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.388	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			7	250	0	0	0	1	0	7	250				
FAM3C	10447	broad.mit.edu	37	7	120991269	120991269	+	Silent	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:120991269A>T	ENST00000359943.3	-	9	735	c.522T>A	c.(520-522)acT>acA	p.T174T		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	174					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					AACCAAGATTAGTAATAGATG	0.428																																						ENST00000359943.3																			0				kidney(1)|lung(8)	9						c.(520-522)acT>acA		family with sequence similarity 3, member C							74.0	71.0	72.0					7																	120991269		2203	4297	6500	SO:0001819	synonymous_variant	10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:120991269A>T	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"""predicted osteoblast protein"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"""	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.522T>A	7.37:g.120991269A>T							p.T174T	NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN			9	735	-	all_neural(327;0.117)		174					A6NDN2|A8K3R7	Silent	SNP	ENST00000359943.3	37	c.522T>A	CCDS5782.1																																																																																				0.428	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		51	190	0	0	0	1	0	51	190				
ADRA2B	151	broad.mit.edu	37	2	96780765	96780765	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:96780765C>T	ENST00000409345.3	-	1	1219	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	375					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CACAAAAACGCCAATGACCAC	0.622																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(1123-1125)gGc>gAc		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						51.0	58.0	56.0					2																	96780765		2197	4292	6489	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780765C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1124G>A	2.37:g.96780765C>T	ENSP00000387281:p.Gly375Asp						p.G375D	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	1219	-			378					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.1124G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308310	0.81247	.	.	ENSG00000222040	ENST00000409345	T	0.38560	1.13	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.81346	0.4803	H	0.99682	4.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89685	0.3893	9	0.87932	D	0	.	17.1963	0.86893	0.0:1.0:0.0:0.0	.	378	P18089	ADA2B_HUMAN	D	375	ENSP00000387281:G375D	ENSP00000387281:G375D	G	-	2	0	ADRA2B	96144492	1.000000	0.71417	0.421000	0.26609	0.650000	0.38633	7.810000	0.86072	2.658000	0.90341	0.551000	0.68910	GGC		0.622	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			27	85	0	0	0	1	0	27	85				
ZFP82	284406	broad.mit.edu	37	19	36884698	36884698	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:36884698G>A	ENST00000392161.3	-	5	786	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R182C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCTGTTGGCGCACTCTGAAC	0.438																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(544-546)Cgc>Tgc		ZFP82 zinc finger protein							98.0	87.0	91.0					19																	36884698		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884698G>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.544C>T	19.37:g.36884698G>A	ENSP00000431265:p.Arg182Cys					ZFP82_ENST00000392171.1_Missense_Mutation_p.R182C	p.R182C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	786	-			182					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.544C>T	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285544	0.40394	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.16073	2.37;2.37	4.05	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37393	N	0.002115	T	0.26991	0.0661	L	0.43646	1.37	0.22911	N	0.998579	D	0.89917	1.0	D	0.63488	0.915	T	0.01977	-1.1236	10	0.35671	T	0.21	.	10.9206	0.47163	0.0:0.0:0.8124:0.1876	.	182	Q8N141	ZFP82_HUMAN	C	182	ENSP00000431265:R182C;ENSP00000446080:R182C	ENSP00000431265:R182C	R	-	1	0	ZFP82	41576538	0.000000	0.05858	0.991000	0.47740	0.979000	0.70002	-0.345000	0.07770	2.282000	0.76494	0.655000	0.94253	CGC		0.438	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		5	286	0	0	0	1	0	5	286				
PRDM11	56981	broad.mit.edu	37	11	45246062	45246062	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:45246062C>A	ENST00000530656.1	+	7	1139	c.1139C>A	c.(1138-1140)gCa>gAa	p.A380E	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Missense_Mutation_p.A380E|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A346E			Q9NQV5	PRD11_HUMAN	PR domain containing 11	380							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGTCAGTGTGCAACAACAATG	0.582																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1138-1140)gCa>gAa		PR domain containing 11							104.0	110.0	108.0					11																	45246062		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246062C>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1139C>A	11.37:g.45246062C>A	ENSP00000435976:p.Ala380Glu					PRDM11_ENST00000424263.2_Missense_Mutation_p.A346E|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.A380E|PRDM11_ENST00000528980.1_Intron	p.A380E			Q9NQV5	PRD11_HUMAN			8	1388	+			380					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1139C>A		.	.	.	.	.	.	.	.	.	.	C	3.853	-0.031534	0.07543	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.23950	1.88;1.88;1.9	5.41	2.37	0.29283	.	0.371038	0.22974	N	0.053384	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	P	0.41848	0.763	B	0.39840	0.311	T	0.10965	-1.0607	10	0.25751	T	0.34	-4.2871	4.8943	0.13742	0.1119:0.3303:0.4654:0.0924	.	380	Q9NQV5	PRD11_HUMAN	E	380;380;346	ENSP00000263765:A380E;ENSP00000435976:A380E;ENSP00000394314:A346E	ENSP00000263765:A380E	A	+	2	0	PRDM11	45202638	0.994000	0.37717	0.003000	0.11579	0.009000	0.06853	3.098000	0.50259	0.656000	0.30886	-0.259000	0.10710	GCA		0.582	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		6	657	1	0	0.00307968	1	0.00312285	6	657				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		5	244	1	0	2.7689e-08	1	2.91675e-08	5	244				
FBXW12	285231	broad.mit.edu	37	3	48436086	48436086	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:48436086G>A	ENST00000296438.5	+	11	1543	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	FBXW12_ENST00000445170.1_Missense_Mutation_p.D434N|FBXW12_ENST00000468158.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.D383N|FBXW12_ENST00000436231.1_Missense_Mutation_p.D296N	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	453										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAAGTAAGTGACTCCAGCAT	0.358																																						ENST00000296438.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1357-1359)Gac>Aac		F-box and WD repeat domain containing 12							155.0	144.0	148.0					3																	48436086		2203	4300	6503	SO:0001583	missense	285231							g.chr3:48436086G>A	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1357G>A	3.37:g.48436086G>A	ENSP00000296438:p.Asp453Asn					FBXW12_ENST00000445170.1_Missense_Mutation_p.D434N|FBXW12_ENST00000436231.1_Missense_Mutation_p.D296N|FBXW12_ENST00000415155.1_Missense_Mutation_p.D383N|FBXW12_ENST00000468158.1_Intron	p.D453N	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	1543	+			453					E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.1357G>A	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	G	3.756	-0.050498	0.07407	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.29397	1.99;1.58;1.57;1.58	3.33	-4.85	0.03142	.	2.083830	0.03331	N	0.193337	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.11108	-1.0601	10	0.16420	T	0.52	-4.1095	0.9617	0.01397	0.3501:0.2821:0.2252:0.1426	.	352;434;383;453	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	N	352;453;296;434;383	ENSP00000296438:D453N;ENSP00000413866:D296N;ENSP00000406139:D434N;ENSP00000414683:D383N	ENSP00000296438:D453N	D	+	1	0	FBXW12	48411090	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.732000	0.04904	-1.208000	0.02634	-0.282000	0.10007	GAC		0.358	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		5	387	0	0	0	1	0	5	387				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						ENST00000335694.4																			6	Substitution - Missense(6)	p.M31T(6)	lung(4)|NS(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(91-93)aTg>aCg		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	296	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		5	342	0	0	0	1	0	5	342				
CNOT3	4849	broad.mit.edu	37	19	54646728	54646728	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54646728G>A	ENST00000406403.1	+	1	1617	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	5					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGGACAAGCGCAAACTCCAA	0.527																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(13-15)cGc>cAc		CCR4-NOT transcription complex, subunit 3							196.0	161.0	173.0					19																	54646728		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646728G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.14G>A	19.37:g.54646728G>A	ENSP00000383954:p.Arg5His					CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H	p.R5H			O75175	CNOT3_HUMAN			1	1617	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		5					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.14G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051461	0.93793	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.73363	-0.74;-0.74	4.87	4.87	0.63330	Not CCR4-Not complex component, N-terminal (1);	0.135232	0.48286	D	0.000197	D	0.88328	0.6407	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90703	0.4622	10	0.87932	D	0	-24.7136	15.3142	0.74059	0.0:0.0:1.0:0.0	.	5;5	B7Z6J7;O75175	.;CNOT3_HUMAN	H	5	ENSP00000221232:R5H;ENSP00000383954:R5H	ENSP00000221232:R5H	R	+	2	0	CNOT3	59338540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.832000	0.86757	2.429000	0.82318	0.655000	0.94253	CGC		0.527	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		6	523	0	0	0	1	0	6	523				
MYH8	4626	broad.mit.edu	37	17	10315769	10315769	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:10315769C>T	ENST00000403437.2	-	14	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	445	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R445H(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGGTTGATGCGGGTGACCAT	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			1	Substitution - Missense(1)	p.R445H(1)	large_intestine(1)	NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1333-1335)cGc>cAc		myosin, heavy chain 8, skeletal muscle, perinatal							222.0	208.0	213.0					17																	10315769		2203	4297	6500	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10315769C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1334G>A	17.37:g.10315769C>T	ENSP00000384330:p.Arg445His					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R445H	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			14	1428	-			445			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1334G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	32	5.193020	0.94960	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.88741	-2.42	4.6	4.6	0.57074	Myosin head, motor domain (2);	0.000000	0.42548	U	0.000683	D	0.95481	0.8532	M	0.90759	3.145	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	D	0.96458	0.9339	10	0.87932	D	0	.	17.6116	0.88055	0.0:1.0:0.0:0.0	.	445	P13535	MYH8_HUMAN	H	445	ENSP00000384330:R445H	ENSP00000252173:R445H	R	-	2	0	MYH8	10256494	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	7.603000	0.82811	2.391000	0.81399	0.650000	0.86243	CGC		0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		6	811	0	0	0	1	0	6	811				
SEMA3D	223117	broad.mit.edu	37	7	84642125	84642125	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:84642125T>C	ENST00000284136.6	-	15	1784	c.1741A>G	c.(1741-1743)Atc>Gtc	p.I581V	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	581	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CACTGGGTGATTGGGTCGCCA	0.393																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1741-1743)Atc>Gtc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							131.0	120.0	124.0					7																	84642125		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84642125T>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1741A>G	7.37:g.84642125T>C	ENSP00000284136:p.Ile581Val					SEMA3D_ENST00000484038.1_5'UTR	p.I581V	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			15	1784	-			581			PSI.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1741A>G	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	4.555	0.102996	0.08731	.	.	ENSG00000153993	ENST00000284136	T	0.20881	2.04	5.93	5.93	0.95920	.	0.228496	0.49305	D	0.000147	T	0.08935	0.0221	N	0.10733	0.035	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	10	0.15499	T	0.54	.	5.1256	0.14882	0.0:0.1083:0.1805:0.7112	.	581	O95025	SEM3D_HUMAN	V	581	ENSP00000284136:I581V	ENSP00000284136:I581V	I	-	1	0	SEMA3D	84480061	0.744000	0.28250	0.998000	0.56505	0.601000	0.36947	1.112000	0.31172	2.265000	0.75225	0.533000	0.62120	ATC		0.393	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		7	306	0	0	0	1	0	7	306				
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGGACCTTGCGGCGTCCACT	0.557		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3055-3057)gCg>gTg		ret proto-oncogene	Sunitinib(DB01268)						252.0	239.0	243.0					10																	43622039		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622039C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3056C>T	10.37:g.43622039C>T	ENSP00000347942:p.Ala1019Val					RET_ENST00000340058.5_Missense_Mutation_p.A1019V	p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			19	3288	+		Ovarian(717;0.0423)	1019					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3056C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG		0.557	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		7	1196	0	0	0	1	0	7	1196				
ADAM29	11086	broad.mit.edu	37	4	175899048	175899048	+	Missense_Mutation	SNP	C	C	T	rs151303907		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:175899048C>T	ENST00000359240.3	+	5	3042	c.2372C>T	c.(2371-2373)aCg>aTg	p.T791M	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.T791M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T791M|ADAM29_ENST00000445694.1_Missense_Mutation_p.T791M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	791	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCAGTTGACGCCTTCCCAG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19281	0.0		0.0	False		,,,				2504	0.0				Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2371-2373)aCg>aTg		ADAM metallopeptidase domain 29							163.0	152.0	156.0					4																	175899048		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175899048C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2372C>T	4.37:g.175899048C>T	ENSP00000352177:p.Thr791Met					ADAM29_ENST00000514159.1_Missense_Mutation_p.T791M|ADAM29_ENST00000404450.4_Missense_Mutation_p.T791M|ADAM29_ENST00000445694.1_Missense_Mutation_p.T791M|RP13-577H12.2_ENST00000507525.1_RNA	p.T791M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	3042	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	791			9 X 9 AA approximate repeats.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2372C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	c	4.842	0.156538	0.09236	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01981	4.52;4.52;4.52;4.52	0.515	0.515	0.17013	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.68039	0.955	T	0.53479	-0.8433	8	.	.	.	.	6.7614	0.23542	0.0:0.9999:0.0:1.0E-4	.	791	Q9UKF5	ADA29_HUMAN	M	791	ENSP00000352177:T791M;ENSP00000414544:T791M;ENSP00000384229:T791M;ENSP00000423517:T791M	.	T	+	2	0	ADAM29	176135623	0.026000	0.19158	0.088000	0.20740	0.060000	0.15804	-0.783000	0.04638	0.505000	0.28104	0.297000	0.19635	ACG		0.572	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				6	655	0	0	0	1	0	6	655				
MTERF4	130916	broad.mit.edu	37	2	242035431	242035431	+	Silent	SNP	G	G	A	rs114631297	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:242035431G>A	ENST00000391980.2	-	4	1186	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Silent_p.D188D|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		376					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CCtcgtcgtcgtcctcatcct	0.483													g|||	2	0.000399361	0.0	0.0	5008	,	,		21620	0.002		0.0	False		,,,				2504	0.0					ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(1126-1128)gaC>gaT		MTERF domain containing 2							351.0	259.0	290.0					2																	242035431		2203	4300	6503	SO:0001819	synonymous_variant	130916							g.chr2:242035431G>A																												ENST00000391980.2:c.1128C>T	2.37:g.242035431G>A						MTERFD2_ENST00000488567.1_5'UTR|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Silent_p.D188D	p.D376D	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	4	1186	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	376					A8K6K0|Q9P0E0	Silent	SNP	ENST00000391980.2	37	c.1128C>T	CCDS2544.1																																																																																				0.483	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			5	458	0	0	0	1	0	5	458				
PLCD1	5333	broad.mit.edu	37	3	38049624	38049624	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:38049624G>A	ENST00000334661.4	-	14	2288	c.2066C>T	c.(2065-2067)gCg>gTg	p.A689V	PLCD1_ENST00000463876.1_Missense_Mutation_p.A710V	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	689	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TACCTCAAACGCAAACTCCGT	0.557																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(2128-2130)gCg>gTg		phospholipase C, delta 1							120.0	115.0	117.0					3																	38049624		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38049624G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.2066C>T	3.37:g.38049624G>A	ENSP00000335600:p.Ala689Val					PLCD1_ENST00000334661.4_Missense_Mutation_p.A689V	p.A710V	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	14	2482	-			689			C2.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.2129C>T	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	8.511	0.866463	0.17250	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.68181	-0.31;-0.31	5.15	4.0	0.46444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.475525	0.25677	N	0.029024	T	0.31702	0.0805	N	0.00525	-1.395	0.22648	N	0.998895	B;B	0.12013	0.005;0.003	B;B	0.08055	0.001;0.003	T	0.21143	-1.0254	10	0.23302	T	0.38	.	11.6796	0.51451	0.0:0.0:0.2929:0.7071	.	689;710	P51178;B3KR14	PLCD1_HUMAN;.	V	710;689	ENSP00000430344:A710V;ENSP00000335600:A689V	ENSP00000335600:A689V	A	-	2	0	PLCD1	38024628	0.000000	0.05858	0.989000	0.46669	0.071000	0.16799	0.102000	0.15272	0.932000	0.37266	-0.397000	0.06425	GCG		0.557	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			5	434	0	0	0	1	0	5	434				
HLA-DRB6	3128	broad.mit.edu	37	6	32521155	32521155	+	RNA	SNP	G	G	C	rs79811264	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:32521155G>C	ENST00000411500.1	-	0	872					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGTATTACCTGTTGGCTGAAG	0.403																																						ENST00000411500.1																			0																																																			0							g.chr6:32521155G>C	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.32521155G>C								NR_001298.1						0	872	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.403	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	30	0	0	0	1	0	4	30				
DPY19L2P1	554236	broad.mit.edu	37	7	35131521	35131521	+	RNA	SNP	G	G	A	rs200009436		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:35131521G>A	ENST00000436258.1	-	0	1848							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACGCTTGCCATTG	0.398																																						ENST00000436258.1																			0																																																			0							g.chr7:35131521G>A	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131521G>A														0	1848	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.398	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			6	288	0	0	0	1	0	6	288				
MUC21	394263	broad.mit.edu	37	6	30955025	30955025	+	Missense_Mutation	SNP	G	G	A	rs55763085		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:30955025G>A	ENST00000376296.3	+	2	1314	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	358	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S358N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCAGCACAGCCACC	0.642																																						ENST00000376296.3																			1	Substitution - Missense(1)	p.S358N(1)	lung(1)	NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1072-1074)aGc>aAc		mucin 21, cell surface associated							135.0	134.0	135.0					6																	30955025		2202	4298	6500	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30955025G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1073G>A	6.37:g.30955025G>A	ENSP00000365473:p.Ser358Asn					MUC21_ENST00000486149.2_5'UTR	p.S358N	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1314	+			358			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1073G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.638585	0.29157	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02863	4.13	4.44	1.37	0.22104	.	.	.	.	.	T	0.00724	0.0024	N	0.17082	0.46	0.09310	N	1	B	0.27498	0.18	B	0.29176	0.099	T	0.47509	-0.9112	9	0.36615	T	0.2	-6.2264	7.3385	0.26623	0.0985:0.4534:0.448:0.0	rs55763085	358	Q5SSG8	MUC21_HUMAN	N	208;358	ENSP00000365473:S358N	ENSP00000365473:S358N	S	+	2	0	MUC21	31063004	0.000000	0.05858	0.067000	0.19924	0.130000	0.20726	-0.612000	0.05616	0.590000	0.29694	-0.192000	0.12808	AGC		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		10	988	0	0	0	1	0	10	988				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			5	305	0	0	0	1	0	5	305				
RYBP	23429	broad.mit.edu	37	3	72428210	72428210	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:72428210C>A	ENST00000477973.2	-	3	679	c.680G>T	c.(679-681)cGa>cTa	p.R227L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TGATTTGTTTCGCTGGTCTTT	0.393																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(679-681)cGa>cTa		RING1 and YY1 binding protein							188.0	167.0	173.0					3																	72428210		1918	4139	6057	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428210C>A	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.680G>T	3.37:g.72428210C>A	ENSP00000419494:p.Arg227Leu						p.R227L	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	3	679	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.680G>T		.	.	.	.	.	.	.	.	.	.	C	21.7	4.191335	0.78902	.	.	ENSG00000163602	ENST00000477973	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.65749	0.2721	.	.	.	.	.	.	.	.	.	.	.	.	T	0.68044	-0.5513	3	.	.	.	-29.6366	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	.	.	.	L	227	.	.	R	-	2	0	RYBP	72510900	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.592000	0.67543	2.941000	0.99782	0.655000	0.94253	CGA		0.393	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		63	151	1	0	1.03115e-12	1	1.10227e-12	63	151				
SNX29P2	440352	broad.mit.edu	37	16	29376097	29376097	+	RNA	SNP	A	A	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:29376097A>G	ENST00000507381.1	+	0	836				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2									p.M128V(2)									CTCTGGGGACATGTTTAAAAA	0.478																																						ENST00000398878.3																			2	Substitution - Missense(2)	p.M128V(2)	lung(2)																	43.0	51.0	49.0					16																	29376097		2190	4296	6486			0							g.chr16:29376097A>G	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29376097A>G						SNX29P2_ENST00000507381.1_RNA								0	1525	+									RNA	SNP	ENST00000507381.1	37			.	.	.	.	.	.	.	.	.	.	A	0.001	-3.694287	0.00006	.	.	ENSG00000198106	ENST00000398878;ENST00000507381;ENST00000356328	.	.	.	1.53	-2.05	0.07321	.	1.084360	0.06958	N	0.815784	T	0.13157	0.0319	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29181	-1.0020	8	0.02654	T	1	-10.7545	6.6064	0.22727	0.4858:0.0:0.5142:0.0	.	128;147	Q8IUI4;E9PDE2	RUN2B_HUMAN;.	V	128;147;128	.	ENSP00000348682:M128V	M	+	1	0	RUNDC2C	29283598	0.000000	0.05858	0.036000	0.18154	0.126000	0.20510	-0.101000	0.10973	-0.608000	0.05731	-1.731000	0.00696	ATG		0.478	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	NR_002939		4	359	0	0	0	1	0	4	359				
TSGA10IP	254187	broad.mit.edu	37	11	65714436	65714436	+	RNA	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:65714436G>A	ENST00000532620.1	+	0	464				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AAGAAGGACCGCAAGCCCAGG	0.597																																						ENST00000532620.1																			0				endometrium(2)|kidney(3)|lung(9)	14								testis specific, 10 interacting protein							81.0	89.0	86.0					11																	65714436		2056	4204	6260			254187							g.chr11:65714436G>A	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714436G>A										Q3SY00	T10IP_HUMAN			0	464	+								Q3SXZ9|Q3SY01|Q96M26	RNA	SNP	ENST00000532620.1	37																																																																																						0.597	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		4	250	0	0	0	1	0	4	250				
KIAA1468	57614	broad.mit.edu	37	18	59919929	59919929	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr18:59919929C>T	ENST00000398130.2	+	12	1998	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.A589V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	589										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GTGGCATTTGCGCGTCATGTT	0.388																																						ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1765-1767)gCg>gTg		KIAA1468							128.0	111.0	117.0					18																	59919929		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59919929C>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1766C>T	18.37:g.59919929C>T	ENSP00000381198:p.Ala589Val					KIAA1468_ENST00000398130.2_Missense_Mutation_p.A589V	p.A589V			Q9P260	K1468_HUMAN			12	2014	+		Colorectal(73;0.186)	589						Missense_Mutation	SNP	ENST00000398130.2	37	c.1766C>T	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	34	5.376217	0.95945	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.44482	0.92;0.92	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	P;D;D	0.91635	0.802;0.999;0.998	T	0.61481	-0.7054	9	.	.	.	-14.7767	20.0621	0.97678	0.0:1.0:0.0:0.0	.	589;589;233	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	589	ENSP00000381198:A589V;ENSP00000256858:A589V	.	A	+	2	0	KIAA1468	58070909	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.723000	0.84788	2.750000	0.94351	0.655000	0.94253	GCG		0.388	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		5	259	0	0	0	1	0	5	259				
UNC13A	23025	broad.mit.edu	37	19	17720864	17720864	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17720864G>A	ENST00000519716.2	-	43	4695	c.4696C>T	c.(4696-4698)Cgg>Tgg	p.R1566W	UNC13A_ENST00000551649.1_Missense_Mutation_p.R1585W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1560W|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1654W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1566W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1539W	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1566	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ATGAACGGCCGGAAGATGCCA	0.517																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(4960-4962)Cgg>Tgg		unc-13 homolog A (C. elegans)							122.0	130.0	127.0					19																	17720864		2154	4277	6431	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17720864G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4696C>T	19.37:g.17720864G>A	ENSP00000429562:p.Arg1566Trp					UNC13A_ENST00000252773.7_Missense_Mutation_p.R1566W|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1585W|UNC13A_ENST00000519716.2_Missense_Mutation_p.R1566W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1539W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1560W	p.R1654W			Q9UPW8	UN13A_HUMAN			44	4959	-			1566					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4960C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007738	0.75046	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.13	4.13	0.48395	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.84005	0.5377	M	0.89968	3.075	0.46981	D	0.999273	D	0.89917	1.0	D	0.85130	0.997	D	0.87780	0.2611	10	0.87932	D	0	-17.1577	13.9527	0.64129	0.0:0.0:1.0:0.0	.	1566	Q9UPW8	UN13A_HUMAN	W	1566;1654;1566;1585;1560;1539	ENSP00000429562:R1566W;ENSP00000400409:R1654W;ENSP00000252773:R1566W;ENSP00000447236:R1585W;ENSP00000447572:R1560W;ENSP00000446831:R1539W	ENSP00000252773:R1566W	R	-	1	2	UNC13A	17581864	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.923000	0.56469	1.869000	0.54173	0.478000	0.44815	CGG		0.517	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		8	642	0	0	0	1	0	8	642				
CELSR2	1952	broad.mit.edu	37	1	109806332	109806332	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:109806332G>A	ENST00000271332.3	+	9	4995	c.4934G>A	c.(4933-4935)cGc>cAc	p.R1645H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1645	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCATGTTCCGCACGCGCCAG	0.662											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4933-4935)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 2							74.0	72.0	73.0					1																	109806332		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109806332G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4934G>A	1.37:g.109806332G>A	ENSP00000271332:p.Arg1645His		OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1422		p.R1645H	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	9	4995	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1645			Laminin G-like 2.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4934G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924399	0.92319	.	.	ENSG00000143126	ENST00000271332	T	0.74737	-0.87	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.86297	0.5899	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87909	0.2696	9	0.87932	D	0	.	18.3881	0.90473	0.0:0.0:1.0:0.0	.	1645	Q9HCU4	CELR2_HUMAN	H	1645	ENSP00000271332:R1645H	ENSP00000271332:R1645H	R	+	2	0	CELSR2	109607855	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.156000	0.94705	2.686000	0.91538	0.561000	0.74099	CGC		0.662	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	524	0	0	0	1	0	6	524				
ZNF148	7707	broad.mit.edu	37	3	124953158	124953158	+	Missense_Mutation	SNP	C	C	T	rs376674595		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:124953158C>T	ENST00000360647.4	-	8	1168	c.683G>A	c.(682-684)cGc>cAc	p.R228H	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H|ZNF148_ENST00000484491.1_Missense_Mutation_p.R228H|ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	228					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTCATCACAGCGAAATGGTTT	0.294																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(682-684)cGc>cAc		zinc finger protein 148		C	HIS/ARG	0,4406		0,0,2203	100.0	101.0	101.0		683	3.5	1.0	3		101	1,8593	1.2+/-3.3	0,1,4296	no	missense	ZNF148	NM_021964.2	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	228/795	124953158	1,12999	2203	4297	6500	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124953158C>T	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.683G>A	3.37:g.124953158C>T	ENSP00000353863:p.Arg228His					ZNF148_ENST00000484491.1_Missense_Mutation_p.R228H|ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H|ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H	p.R228H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			8	1168	-			228					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.683G>A	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738426	0.30774	0.0	1.16E-4	ENSG00000163848	ENST00000360647;ENST00000468369;ENST00000484491;ENST00000544464;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	5.32	3.49	0.39957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048859	0.85682	D	0.000000	T	0.13243	0.0321	L	0.35644	1.08	0.29133	N	0.879492	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.002	T	0.08027	-1.0742	10	0.44086	T	0.13	0.0288	9.7899	0.40699	0.0:0.786:0.0:0.214	.	36;228	G5E9X2;Q9UQR1	.;ZN148_HUMAN	H	228;36;228;23;228;228;228	ENSP00000353863:R228H;ENSP00000420102:R36H;ENSP00000420335:R228H;ENSP00000437916:R23H;ENSP00000419322:R228H;ENSP00000420448:R228H	ENSP00000353863:R228H	R	-	2	0	ZNF148	126435848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.648000	0.46647	1.474000	0.48178	0.650000	0.86243	CGC		0.294	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		58	288	0	0	0	1	0	58	288				
AIRE	326	broad.mit.edu	37	21	45710997	45710997	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr21:45710997C>T	ENST00000291582.5	+	8	1026	c.899C>T	c.(898-900)gCc>gTc	p.A300V	AIRE_ENST00000329347.4_Missense_Mutation_p.A93V|AIRE_ENST00000355347.4_Missense_Mutation_p.A93V	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	300					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)	p.A103V(1)|p.A300V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GACGAGTGTGCCGTGTGTCGG	0.657									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													ENST00000291582.5																			2	Substitution - Missense(2)	p.A103V(1)|p.A300V(1)	kidney(2)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.(898-900)gCc>gTc		autoimmune regulator							99.0	83.0	89.0					21																	45710997		2203	4300	6503	SO:0001583	missense	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45710997C>T	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.899C>T	21.37:g.45710997C>T	ENSP00000291582:p.Ala300Val					AIRE_ENST00000329347.4_Missense_Mutation_p.A93V|AIRE_ENST00000355347.4_Missense_Mutation_p.A93V	p.A300V	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	8	1026	+			300					B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.899C>T	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920439	0.52653	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	D;D;D	0.94497	-3.44;-3.44;-3.44	3.86	2.96	0.34315	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44902	D	0.000411	D	0.93536	0.7937	N	0.21142	0.635	0.52099	D	0.999946	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	D	0.91753	0.5414	10	0.48119	T	0.1	-32.3727	8.9219	0.35617	0.2232:0.7768:0.0:0.0	.	103;300	B2RP50;O43918	.;AIRE_HUMAN	V	300;103;103;93;93	ENSP00000291582:A300V;ENSP00000347505:A93V;ENSP00000331055:A93V	ENSP00000291582:A300V	A	+	2	0	AIRE	44535425	1.000000	0.71417	0.089000	0.20774	0.196000	0.23810	6.738000	0.74822	0.725000	0.32318	0.462000	0.41574	GCC		0.657	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			7	487	0	0	0	1	0	7	487				
PRX	57716	broad.mit.edu	37	19	40902713	40902713	+	Missense_Mutation	SNP	G	G	A	rs144305922		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:40902713G>A	ENST00000324001.7	-	7	1816	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	516	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGGAAGCCGCACCTCCGGC	0.592																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1546-1548)Cgg>Tgg		periaxin		G	,TRP/ARG	0,4384		0,0,2192	76.0	89.0	85.0		,1546	2.5	0.0	19	dbSNP_134	85	1,8585		0,1,4292	no	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,101	0,1,6484	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,516/1462	40902713	1,12969	2192	4293	6485	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902713G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1546C>T	19.37:g.40902713G>A	ENSP00000326018:p.Arg516Trp					PRX_ENST00000291825.7_3'UTR	p.R516W	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1816	-			516			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1546C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224920	0.58668	0.0	1.16E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02015	4.5	3.58	2.5	0.30297	.	1.860880	0.03022	N	0.150861	T	0.03871	0.0109	L	0.44542	1.39	0.36058	D	0.841268	D	0.63880	0.993	P	0.44561	0.453	T	0.39781	-0.9597	10	0.72032	D	0.01	.	6.0789	0.19931	0.0:0.212:0.5698:0.2181	.	516	Q9BXM0	PRAX_HUMAN	W	516	ENSP00000326018:R516W	ENSP00000326018:R516W	R	-	1	2	PRX	45594553	0.000000	0.05858	0.032000	0.17829	0.291000	0.27294	0.126000	0.15769	0.677000	0.31305	0.313000	0.20887	CGG		0.592	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		8	1083	0	0	0	1	0	8	1083				
PPP2R2C	5522	broad.mit.edu	37	4	6380234	6380234	+	Silent	SNP	C	C	T	rs147944662	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:6380234C>T	ENST00000382599.4	-	3	450	c.234G>A	c.(232-234)ccG>ccA	p.P78P	PPP2R2C_ENST00000515571.1_Silent_p.P61P|PPP2R2C_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000507294.1_Silent_p.P71P|PPP2R2C_ENST00000335585.5_Silent_p.P78P			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	78					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						AGTCAAACTCCGGCTCGTGGC	0.572																																						ENST00000335585.5																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(232-234)ccG>ccA		protein phosphatase 2, regulatory subunit B, gamma		C	,,,	3,4403	6.2+/-15.9	0,3,2200	145.0	136.0	139.0		213,213,183,234	-9.3	0.0	4	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R2C	NM_001206994.1,NM_001206995.1,NM_001206996.1,NM_181876.2	,,,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,,,	71/441,71/441,61/431,78/448	6380234	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6380234C>T	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.234G>A	4.37:g.6380234C>T						PPP2R2C_ENST00000515571.1_Silent_p.P61P|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000382599.4_Silent_p.P78P|PPP2R2C_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000507294.1_Silent_p.P71P	p.P78P	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			3	257	-			78					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37	c.234G>A																																																																																					0.572	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		12	600	0	0	0	1	0	12	600				
FAT3	120114	broad.mit.edu	37	11	92599977	92599977	+	Missense_Mutation	SNP	G	G	A	rs376837097		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:92599977G>A	ENST00000298047.6	+	21	11746	c.11729G>A	c.(11728-11730)cGt>cAt	p.R3910H	FAT3_ENST00000525166.1_Missense_Mutation_p.R3760H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H|FAT3_ENST00000533797.1_Missense_Mutation_p.R245H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3910	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3910L(2)|p.R485L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTCGGGCCGTGCTGTCAAC	0.627										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			3	Substitution - Missense(3)	p.R3910L(2)|p.R485L(1)	lung(3)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11728-11730)cGt>cAt		FAT atypical cadherin 3							34.0	39.0	37.0					11																	92599977		2044	4192	6236	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92599977G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11729G>A	11.37:g.92599977G>A	ENSP00000298047:p.Arg3910His	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.R3760H|FAT3_ENST00000533797.1_Missense_Mutation_p.R245H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H	p.R3910H			Q8TDW7	FAT3_HUMAN			21	11746	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3910			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11729G>A		.	.	.	.	.	.	.	.	.	.	G	15.94	2.980435	0.53827	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.72755	0.3500	L	0.61387	1.9	0.80722	D	1	P;B	0.39831	0.69;0.039	B;B	0.30495	0.116;0.023	T	0.71407	-0.4602	9	0.15499	T	0.54	.	19.9934	0.97376	0.0:0.0:1.0:0.0	.	3910;3910	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3910;3910;3760;245	ENSP00000298047:R3910H;ENSP00000387040:R3910H;ENSP00000432586:R3760H;ENSP00000436399:R245H	ENSP00000298047:R3910H	R	+	2	0	FAT3	92239625	1.000000	0.71417	0.964000	0.40570	0.724000	0.41520	6.323000	0.72891	2.732000	0.93576	0.561000	0.74099	CGT		0.627	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		45	131	0	0	0	1	0	45	131				
AJAP1	55966	broad.mit.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-	rs141981296	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635																																						ENST00000378191.4																			1	Insertion - In frame(1)	p.T225_A226insT(1)	large_intestine(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(652-657)gcc>g		adherens junctions associated protein 1																																				SO:0001651	inframe_deletion	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772583_4772585delCCA	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del					AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1034_1036	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	218			Thr-rich.		Q9Y229	In_Frame_Del	DEL	ENST00000378191.4	37	c.653_655delCCA	CCDS54.1																																																																																				0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		9	129						9	129	---	---	---	---
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del|RP3-467L1.6_ENST00000602406.1_RNA	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		8	863						8	863	---	---	---	---
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T	rs570205705		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:12785492_12785493insT	ENST00000359318.5	+	4	787_788	c.582_583insT	c.(583-585)tgtfs	p.C195fs	AADACL3_ENST00000332530.3_Frame_Shift_Ins_p.C125fs	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(370-375)tagtttfs		arylacetamide deacetylase-like 3																																				SO:0001589	frameshift_variant	126767						hydrolase activity	g.chr1:12785492_12785493insT		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.583dupT	1.37:g.12785493_12785493dupT	ENSP00000352268:p.Cys195fs					AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs	p.*F124fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	598_599	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	194					B3KXR9|Q5VUY1	Frame_Shift_Ins	INS	ENST00000359318.5	37	c.372_373insT	CCDS41253.1																																																																																				0.455	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		7	934						7	934	---	---	---	---
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs149892509		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1.0		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	418						7	418	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325282	47325282	+	RNA	DEL	A	A	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:47325282delA	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										ATTTCAATCCAAACATAGCTG	0.393																																						ENST00000505841.1																			0																																																			0							g.chr1:47325282delA	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325282delA								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.393	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		7	157						7	157	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AAAAAAAAAAGTTGTTTTAAGAC	0.409																																						ENST00000505841.1																			0																																																			0							g.chr1:47325313_47325315delGTT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325316_47325318delGTT								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.409	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		8	326						8	326	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855|rs373434974		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1.0		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.700	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		8	267						8	267	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210446	143210446	+	lincRNA	DEL	T	T	-	rs530198275|rs376698056	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284																																						ENST00000412204.2																			0																																																			0							g.chr1:143210446delT																													1.37:g.143210446delT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	624	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.284	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			8	49						8	49	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cgagga>cga	p.G69del	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	69	Poly-Gly.			G -> GG (in Ref. 3; ABC40718). {ECO:0000305}.	axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(187-192)cga>c		hemochromatosis type 2 (juvenile)			,,,	49,31,4178		2,0,45,10,11,2061					,,,	2.7	0.0			51	5,73,8160		0,0,5,23,27,4064	no	codingComplex,intron,intron,utr-5	HFE2	NM_213653.3,NM_213652.3,NM_202004.3,NM_145277.4	,,,	2,0,50,33,38,6125	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9468,1.8788,1.2644	,,,	,,,		54,104,12338				SO:0001651	inframe_deletion	148738				axon guidance	anchored to membrane		g.chr1:145415369_145415371delGAG	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.188_190delGAG	1.37:g.145415378_145415380delGAG	ENSP00000337014:p.Gly69del					HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron	p.RG63del	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN			3	426_428	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		63					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	In_Frame_Del	DEL	ENST00000336751.5	37	c.188_190delGAG	CCDS910.1																																																																																				0.626	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		8	414						8	414	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						ENST00000368320.3																			1	Deletion - Frameshift(1)	p.R516fs*21(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)gfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs	p.R516fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1571_1572	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		11	808						11	808	---	---	---	---
SLC5A6	8884	broad.mit.edu	37	2	27427649	27427685	+	Splice_Site	DEL	CTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA	CTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA	-	rs200982480|rs151071040		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:27427649_27427685delCTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA	ENST00000310574.3	-	8	1322_1349	c.849_876delTTCCCGCACGGAGAAGGCTGCTGTGCTGTGAGTGCAG	c.(847-876)agttcccgcacggagaaggctgctgtgctg>ag	p.SSRTEKAAVL283fs	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Splice_Site_p.SSRTEKAAVL283fs	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	283					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.T286M(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CTTCCTGTCCCTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAACTGAGGTACC	0.591																																						ENST00000310574.3																			1	Substitution - Missense(1)	p.T286M(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.e8+1		solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	Biotin(DB00121)|Lipoic Acid(DB00166)																																			SO:0001630	splice_region_variant	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27427649_27427685delCTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.875+1TTCCCGCACGGAGAAGGCTGCTGTGCTGTGAGTGCAG>-	2.37:g.27427649_27427685delCTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA						SLC5A6_ENST00000408041.1_Splice_Site_p.283_splice	p.283_splice	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN			8	1322_1349	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		283					B2RB85|D6W549|Q969Y5	Splice_Site	DEL	ENST00000310574.3	37	c.875_splice	CCDS1740.1																																																																																				0.591	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095	Frame_Shift_Del	10	207						10	207	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-	rs199521315|rs372484063|rs199910361	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		7	480						7	480	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	755					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2263-2268)cat>ca		ubiquitin specific peptidase 34																																				SO:0001651	inframe_deletion	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575023_61575025delTGG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2265_2267delCCA	2.37:g.61575032_61575034delTGG	ENSP00000381577:p.His760del						p.HH759del	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	2341_2343	-			759					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Del	DEL	ENST00000398571.2	37	c.2265_2267delCCA	CCDS42686.1																																																																																				0.389	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			8	321						8	321	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C	rs547055147	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:74687542_74687543insC	ENST00000233615.2	+	4	818_819	c.544_545insC	c.(544-546)gccfs	p.A182fs	MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.A179fs|WBP1_ENST00000393972.3_Frame_Shift_Ins_p.A216fs|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													CCCCCCc|CCCCCCC|CCCCCCCC|insertion	4	0.000798722	0.0015	0.0	5008	,	,		17122	0.001		0.0	False		,,,				2504	0.001					ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(646-648)cccfs		WW domain binding protein 1																																				SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74687542_74687543insC	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.551dupC	2.37:g.74687549_74687549dupC	ENSP00000233615:p.Ala182fs					WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000494741.1_3'UTR	p.P216fs			Q96G27	WBP1_HUMAN			5	849_850	+			182					B2RE02|O95637	Frame_Shift_Ins	INS	ENST00000233615.2	37	c.646_647insC	CCDS1943.1																																																																																				0.604	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		8	738						8	738	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74687550	74687550	+	Frame_Shift_Del	DEL	T	T	-	rs8469	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:74687550delT	ENST00000233615.2	+	4	826	c.552delT	c.(550-552)cctfs	p.P184fs	MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs|WBP1_ENST00000393972.3_Frame_Shift_Del_p.P218fs|WBP1_ENST00000494741.1_3'UTR	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	184							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GTGCCCCCCCTCATCAGGAGG	0.612																																						ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(652-654)ccfs		WW domain binding protein 1							52.0	70.0	64.0					2																	74687550		2203	4299	6502	SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74687550delT	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.552delT	2.37:g.74687550delT	ENSP00000233615:p.Pro184fs					WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs|WBP1_ENST00000233615.2_Frame_Shift_Del_p.P184fs|WBP1_ENST00000494741.1_3'UTR	p.P218fs			Q96G27	WBP1_HUMAN			5	857	+			184					B2RE02|O95637	Frame_Shift_Del	DEL	ENST00000233615.2	37	c.654delT	CCDS1943.1																																																																																				0.612	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		8	760						8	760	---	---	---	---
CHMP3	51652	broad.mit.edu	37	2	86732976	86732978	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:86732976_86732978delTCC	ENST00000263856.4	-	6	746_748	c.618_620delGGA	c.(616-621)gaggaa>gaa	p.206_207EE>E	CHMP3_ENST00000494623.1_5'Flank|CHMP3_ENST00000439940.2_In_Frame_Del_p.235_236EE>E|CHMP3_ENST00000409225.2_In_Frame_Del_p.140_141EE>E|CHMP3_ENST00000409727.1_In_Frame_Del_p.166_167EE>E|RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.235_236EE>E	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	206	Interaction with STAMBP.|Interaction with VPS4A.|Intramolecular interaction with N- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											CAGAGCCTCTTCCTCCTCCTCCT	0.616																																						ENST00000263856.4																			0											c.(616-621)gaa>ga		charged multivesicular body protein 3																																				SO:0001651	inframe_deletion	51652							g.chr2:86732976_86732978delTCC	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.618_620delGGA	2.37:g.86732985_86732987delTCC	ENSP00000263856:p.Glu208del					CHMP3_ENST00000439940.2_In_Frame_Del_p.EE235del|RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.EE235del|CHMP3_ENST00000409225.2_In_Frame_Del_p.EE140del|CHMP3_ENST00000409727.1_In_Frame_Del_p.EE166del	p.EE206del	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1					6	746_748	-								A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	In_Frame_Del	DEL	ENST00000263856.4	37	c.618_620delGGA	CCDS33236.1																																																																																				0.616	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		7	388						7	388	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167055992	167055992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:167055992delT	ENST00000409435.1	-	26	5156	c.5157delA	c.(5155-5157)aaafs	p.K1719fs	SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Frame_Shift_Del_p.K1720fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1719					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGATGAACTTTTTTTGGGT	0.423																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5158-5160)aafs		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						234.0	251.0	245.0					2																	167055992		2201	4300	6501	SO:0001589	frameshift_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055992delT	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5157delA	2.37:g.167055992delT	ENSP00000386330:p.Lys1719fs					SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs|AC010127.3_ENST00000447809.2_RNA	p.K1720fs			Q15858	SCN9A_HUMAN			27	5500	-			1719					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Del	DEL	ENST00000409435.1	37	c.5160delA	CCDS46441.1																																																																																				0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		9	1232						9	1232	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-	rs139294990		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)catfs	p.H565fs	ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000282272.8_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	0										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411																																						ENST00000409153.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1693-1695)tfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197943383_197943384delTG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000409153.1:c.1693_1694delCA	2.37:g.197943393_197943394delTG	ENSP00000387141:p.His565fs					ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000328737.2_Intron	p.H565fs			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	1875_1876	-			811					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Del	DEL	ENST00000409153.1	37	c.1693_1694delCA																																																																																					0.411	ANKRD44-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335114.3	NM_153697		7	62						7	62	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219892687	219892687	+	Frame_Shift_Del	DEL	G	G	-	rs532323836		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:219892687delG	ENST00000341552.5	-	13	1979	c.1896delC	c.(1894-1896)cccfs	p.P632fs	CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P567fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P621fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P632fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	632						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCGGTCATGGGGGGGATAT	0.597																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1894-1896)ccfs		coiled-coil domain containing 108							58.0	65.0	63.0					2																	219892687		2196	4286	6482	SO:0001589	frameshift_variant	255101					integral to membrane	structural molecule activity	g.chr2:219892687delG	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1896delC	2.37:g.219892687delG	ENSP00000340776:p.Pro632fs					CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P567fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P621fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P632fs	p.P632fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1979	-		Renal(207;0.0915)	632					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	c.1896delC	CCDS2430.2																																																																																				0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		7	670						7	670	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723112	49723112	+	IGR	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43.0	42.0	43.0					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			9	292						9	292	---	---	---	---
PARP3	10039	broad.mit.edu	37	3	51978150	51978152	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:51978150_51978152delAAC	ENST00000417220.2	+	4	717_719	c.229_231delAAC	c.(229-231)aacdel	p.N80del	PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del|RRP9_ENST00000232888.6_5'Flank			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	80				N -> K (in Ref. 2; AAD29855). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAACATCGAGAACAACAACAACA	0.596																																						ENST00000417220.2																			0				ovary(1)	1						c.(229-231)del		poly (ADP-ribose) polymerase family, member 3			,	10,3992		5,0,1996					,	-7.6	0.0			201	34,8036		15,4,4016	no	coding,coding	PARP3	NM_005485.4,NM_001003931.2	,	20,4,6012	A1A1,A1R,RR		0.4213,0.2499,0.3645	,	,		44,12028				SO:0001651	inframe_deletion	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51978150_51978152delAAC	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.229_231delAAC	3.37:g.51978159_51978161delAAC	ENSP00000395951:p.Asn80del					PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del	p.N80del			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	717_719	+			80	N -> K (in Ref. 2; AAD29855).				Q8NER9|Q96CG2|Q9UG81	In_Frame_Del	DEL	ENST00000417220.2	37	c.229_231delAAC	CCDS43097.1																																																																																				0.596	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		7	990						7	990	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:99568273delT	ENST00000354552.3	-	5	2717	c.2247delA	c.(2245-2247)aaafs	p.K749fs	FILIP1L_ENST00000471562.1_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Del_p.K325fs|FILIP1L_ENST00000383694.2_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000331335.5_Frame_Shift_Del_p.K749fs|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	749						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTTGATTTAGTTTTTTTTGCA	0.403																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2245-2247)aafs		filamin A interacting protein 1-like							166.0	147.0	153.0					3																	99568273		1847	4097	5944	SO:0001589	frameshift_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568273delT		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2247delA	3.37:g.99568273delT	ENSP00000346560:p.Lys749fs					FILIP1L_ENST00000471562.1_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Del_p.K749fs|FILIP1L_ENST00000383694.2_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000487087.1_Frame_Shift_Del_p.K325fs|CMSS1_ENST00000496116.1_Intron	p.K749fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2717	-			749					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Frame_Shift_Del	DEL	ENST00000354552.3	37	c.2247delA	CCDS43117.1																																																																																				0.403	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		8	607						8	607	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			12	1040						12	1040	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gat>ga		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	p.DD541del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			9	413						9	413	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(427-429)tcfs		fetuin B							91.0	87.0	89.0					3																	186362544		2203	4300	6503	SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362544delA	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.429delA	3.37:g.186362544delA	ENSP00000265029:p.Ser143fs					RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs	p.S143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	530	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		143					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	ENST00000265029.3	37	c.429delA	CCDS3279.1																																																																																				0.418	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		14	527						14	527	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs					FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs	p.R483fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		29	337						29	337	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T	rs533914363		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aaacgafs	p.R75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.R75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(220-225)aagatgfs		cyclin-dependent kinase-like 2 (CDC2-related kinase)																																				SO:0001589	frameshift_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539579_76539580insT	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.223dupA	4.37:g.76539588_76539588dupT	ENSP00000412365:p.Arg75fs					CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	925_926	-			75			Protein kinase.		B2R695	Frame_Shift_Ins	INS	ENST00000429927.2	37	c.222_223insA	CCDS3570.1																																																																																				0.322	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		10	246						10	246	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129864163	129864163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:129864163delT	ENST00000281142.5	-	17	2123	c.1620delA	c.(1618-1620)aaafs	p.K540fs	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTACTTTGGCTTTTTTTTGAG	0.353																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1618-1620)aafs		sodium channel and clathrin linker 1				19,4247		7,5,2121	118.0	121.0	120.0			5.3	1.0	4		118	26,8228		12,2,4113	no	frameshift	SCLT1	NM_144643.2		19,7,6234	A1A1,A1R,RR		0.315,0.4454,0.3594			129864163	45,12475	2203	4300	6503	SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129864163delT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1620delA	4.37:g.129864163delT	ENSP00000281142:p.Lys540fs					SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron	p.K540fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			17	2123	-			540					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Del	DEL	ENST00000281142.5	37	c.1620delA	CCDS3740.1																																																																																				0.353	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		7	375						7	375	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs58015886|rs370122702		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q|MAML3_ENST00000398940.1_Splice_Site_p.A37del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1519-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811069delTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521_1526delGCAGCA	4.37:g.140811070_140811075delTGCTGC	ENSP00000421180:p.Gln509_Gln510del					MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice	p.QQQ507del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2377_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1521_1526delGCAGCA	CCDS54805.1																																																																																				0.515	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			14	365						14	365	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137801684	137801686	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:137801684_137801686delCAG	ENST00000239938.4	+	1	506_508	c.234_236delCAG	c.(232-237)aacagc>aac	p.S84del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	84	Gly/Ser-rich.				BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			gcggcagcaacagcagcagcagc	0.724																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(232-237)aac>aa		early growth response 1				12,237,3657		1,0,10,41,155,1746						-8.4	0.3		dbSNP_132	11	4,434,7198		1,0,2,72,290,3453	no	codingComplex	EGR1	NM_001964.2		2,0,12,113,445,5199	A1A1,A1A2,A1R,A2A2,A2R,RR		5.736,6.3748,5.9522				16,671,10855				SO:0001651	inframe_deletion	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801684_137801686delCAG	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.234_236delCAG	5.37:g.137801693_137801695delCAG	ENSP00000239938:p.Ser84del						p.NS78del	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	506_508	+			78			Gly/Ser-rich.			In_Frame_Del	DEL	ENST00000239938.4	37	c.234_236delCAG	CCDS4206.1																																																																																				0.724	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		7	81						7	81	---	---	---	---
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-	rs375722663	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													T|T|-|deletion	29	0.00579073	0.0	0.0173	5008	,	,		10844	0.002		0.0139	False		,,,				2504	0.001					ENST00000542735.1																			1	Deletion - Frameshift(1)	p.T117fs*24(1)	central_nervous_system(1)	central_nervous_system(1)|prostate(4)	5						c.(349-351)cgfs		DND microRNA-mediated repression inhibitor 1							6.0	7.0	6.0					5																	140052285		2084	4099	6183	SO:0001589	frameshift_variant	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052285delT	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.349delA	5.37:g.140052285delT	ENSP00000445366:p.Thr117fs						p.T117fs	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	392	-			117			RRM 1.			Frame_Shift_Del	DEL	ENST00000542735.1	37	c.349delA	CCDS4236.1																																																																																				0.682	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		7	45						7	45	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31975223	31975224	+	5'Flank	INS	-	-	T	rs369404825		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				8	840						8	840	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-	rs141838432		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGACTAGGAGAAAAAAAGGTA	0.517																																						ENST00000411500.1																			0																																																			0							g.chr6:32522756delA	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.32522756delA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.517	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		7	89						7	89	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		8	186						8	186	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)tttfs	p.F269fs	BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(802-804)ttfs		Bardet-Biedl syndrome 9							211.0	205.0	207.0					7																	33312723		2203	4300	6503	SO:0001589	frameshift_variant	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33312723delT		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.802delT	7.37:g.33312723delT	ENSP00000242067:p.Phe269fs					BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs	p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		8	1323	+			269					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Frame_Shift_Del	DEL	ENST00000242067.6	37	c.802delT	CCDS43566.1																																																																																				0.393	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			8	660						8	660	---	---	---	---
PSPH	5723	broad.mit.edu	37	7	56087292	56087292	+	Splice_Site	DEL	C	C	-	rs139106189		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:56087292delC	ENST00000395471.3	-	5	1081		c.e5+1		PSPH_ENST00000275605.3_Splice_Site|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTCCTCTTACCTTATGCCGG	0.577																																						ENST00000395471.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.e5+1		phosphoserine phosphatase							44.0	41.0	42.0					7																	56087292		2203	4300	6503	SO:0001630	splice_region_variant	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56087292delC	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.275+1G>-	7.37:g.56087292delC						PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Splice_Site				P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	1081	-	Breast(14;0.214)							B2RCR5|Q7Z3S5	Splice_Site	DEL	ENST00000395471.3	37		CCDS5522.1																																																																																				0.577	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577	Intron	14	299						14	299	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T	rs556745507	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120									GTF2I repeat domain containing 2 pseudogene 1																		CGTTCTACCAgtttttttttgt	0.441													|||unknown(NO_COVERAGE)	44	0.00878594	0.0325	0.0014	5008	,	,		20043	0.0		0.0	False		,,,				2504	0.0					ENST00000425256.1																			0																																																			0							g.chr7:72683455_72683456insT	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72683464_72683464dupT								NR_002164.1						0	120	-									RNA	INS	ENST00000425256.1	37																																																																																						0.441	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		8	338						8	338	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccafs	p.P231fs	DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	231					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(691-693)ccfs		deltex homolog 2 (Drosophila)							125.0	130.0	128.0					7																	76112249		2203	4300	6503	SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112249delA		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.693delA	7.37:g.76112249delA	ENSP00000322885:p.Pro231fs					DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs	p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1203	+			231					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	ENST00000324432.5	37	c.693delA	CCDS5587.1																																																																																				0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			9	1586						9	1586	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133160181	133160181	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:133160181delT	ENST00000253861.4	+	8	1311	c.1282delT	c.(1282-1284)tttfs	p.F429fs	EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs|EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	429					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTTGCAGCCTTTTTTGCCAA	0.378																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1282-1284)ttfs		exocyst complex component 4							123.0	127.0	126.0					7																	133160181		2203	4300	6503	SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160181delT	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1282delT	7.37:g.133160181delT	ENSP00000253861:p.Phe429fs					EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			8	1311	+		Esophageal squamous(399;0.129)	429					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Del	DEL	ENST00000253861.4	37	c.1282delT	CCDS5829.1																																																																																				0.378	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		7	735						7	735	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		7	309						7	309	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000354870.5_5'Flank|BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		11	662						11	662	---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25365019	25365019	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:25365019delA	ENST00000330560.3	+	15	3314	c.2837delA	c.(2836-2838)caafs	p.Q946fs	CDCA2_ENST00000380665.3_Frame_Shift_Del_p.Q931fs|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	946					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCCTCCAGACAAAAACCGCAG	0.468																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(2836-2838)cafs		cell division cycle associated 2							174.0	191.0	185.0					8																	25365019		2203	4300	6503	SO:0001589	frameshift_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25365019delA	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2837delA	8.37:g.25365019delA	ENSP00000328228:p.Gln946fs					CDCA2_ENST00000380665.3_Frame_Shift_Del_p.Q931fs|CDCA2_ENST00000521098.2_3'UTR	p.Q946fs	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	3314	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	946					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Frame_Shift_Del	DEL	ENST00000330560.3	37	c.2837delA	CCDS6049.1																																																																																				0.468	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		7	1031						7	1031	---	---	---	---
RP11-513H8.1	0	broad.mit.edu	37	8	135331910	135331935	+	lincRNA	DEL	CCAGGGAGAGGGTGTGAGGGGTCAAT	CCAGGGAGAGGGTGTGAGGGGTCAAT	-	rs374903695|rs140580388|rs531182600|rs13271339	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:135331910_135331935delCCAGGGAGAGGGTGTGAGGGGTCAAT	ENST00000523317.1	-	0	84																											CCACAGCAGCCCAGGGAGAGGGTGTGAGGGGTCAATCCAGGGAGAG	0.544																																						ENST00000523317.1																			0																																																			0							g.chr8:135331910_135331935delCCAGGGAGAGGGTGTGAGGGGTCAAT																													8.37:g.135331910_135331935delCCAGGGAGAGGGTGTGAGGGGTCAAT														0	84	-									RNA	DEL	ENST00000523317.1	37																																																																																						0.544	RP11-513H8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378268.1			2	4						2	4	---	---	---	---
PTP4A3	11156	broad.mit.edu	37	8	142444235	142444238	+	IGR	DEL	GGGT	GGGT	-	rs371671775		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:142444235_142444238delGGGT	ENST00000521578.1	+	0	1717				MROH5_ENST00000430863.1_RNA|CTD-3064M3.7_ENST00000606664.1_RNA			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3						peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GGTGTTGGGGGGGTGGGGGGTGGG	0.637																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5																																				SO:0001628	intergenic_variant	389690							g.chr8:142444235_142444238delGGGT	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365			8.37:g.142444235_142444238delGGGT								NM_207414.2	NP_997297.2					0	3937	-								Q8IVN5|Q99849|Q9BTW5	RNA	DEL	ENST00000521578.1	37		CCDS6383.1																																																																																				0.637	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		7	14						7	14	---	---	---	---
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	GAT	-	rs142964918|rs577569567		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:143310866_143310868delGAT	ENST00000307180.3	-	13	1636_1638	c.1519_1521delATC	c.(1519-1521)atcdel	p.I507del	TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000524325.1_In_Frame_Del_p.I506del	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	507	Poly-Ile.				intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(1516-1518)del		t-SNARE domain containing 1																																				SO:0001651	inframe_deletion	203062				vesicle-mediated transport	integral to membrane		g.chr8:143310866_143310868delGAT			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1519_1521delATC	8.37:g.143310875_143310877delGAT	ENSP00000303437:p.Ile507del					TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del	p.I506del			Q96NA8	TSNA1_HUMAN			13	1691_1693	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		507			Poly-Ile.		B7ZLB0|Q14D03	In_Frame_Del	DEL	ENST00000307180.3	37	c.1516_1518delATC	CCDS6384.1																																																																																				0.512	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		9	569						9	569	---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140481542	140481542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr9:140481542delC	ENST00000298585.2	-	4	462	c.236delG	c.(235-237)ggcfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)	p.V80fs*34(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CGGGGCCACGCCCCCCCGGTG	0.632																																						ENST00000298585.2																			2	Insertion - Frameshift(2)	p.V80fs*34(2)	large_intestine(2)	endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(235-237)gcfs		zinc finger, MYND-type containing 19							51.0	60.0	57.0					9																	140481542		2203	4299	6502	SO:0001589	frameshift_variant	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481542delC	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.236delG	9.37:g.140481542delC	ENSP00000298585:p.Gly79fs					ZMYND19_ENST00000471957.1_5'UTR	p.G79fs	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	462	-	all_cancers(76;0.106)		79					Q5T366	Frame_Shift_Del	DEL	ENST00000298585.2	37	c.236delG	CCDS7048.1																																																																																				0.632	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		9	810						9	810	---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	412274	412275	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:412274_412275delCA	ENST00000280886.6	-	19	2295_2296	c.2208_2209delTG	c.(2206-2211)tgtgcafs	p.A737fs	DIP2C_ENST00000540204.1_Frame_Shift_Del_p.A58fs|DIP2C_ENST00000381496.3_Frame_Shift_Del_p.A630fs	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	737						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A737fs*15(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCGCAACTGCACACACACACA	0.54																																						ENST00000280886.6																			1	Insertion - Frameshift(1)	p.A737fs*15(1)	large_intestine(1)	breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2206-2211)tgcafs		DIP2 disco-interacting protein 2 homolog C (Drosophila)																																				SO:0001589	frameshift_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:412274_412275delCA	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2208_2209delTG	10.37:g.412284_412285delCA	ENSP00000280886:p.Ala737fs					DIP2C_ENST00000381496.3_Frame_Shift_Del_p.CA629fs|DIP2C_ENST00000540204.1_Frame_Shift_Del_p.CA57fs	p.CA736fs	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	19	2295_2296	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	736					B4DPI5|Q5SS78	Frame_Shift_Del	DEL	ENST00000280886.6	37	c.2208_2209delTG	CCDS7054.1																																																																																				0.540	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		7	179						7	179	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(3142-3144)gafs		zinc finger, MIZ-type containing 1							193.0	181.0	185.0					10																	81072446		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072446delC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3144delC	10.37:g.81072446delC	ENSP00000334474:p.Asp1048fs					ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	p.D1048fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3716	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1048					Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.3144delC	CCDS7357.1																																																																																				0.557	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		8	1204						8	1204	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		7	489						7	489	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		8	779						8	779	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135027504	135027504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:135027504delA	ENST00000304613.3	+	26	4576	c.4555delA	c.(4555-4557)aaafs	p.K1519fs	KNDC1_ENST00000368572.2_Frame_Shift_Del_p.K1521fs			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1519	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCTTTCGGCCAAAACCTGCAG	0.547																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4555-4557)aafs		kinase non-catalytic C-lobe domain (KIND) containing 1							138.0	120.0	126.0					10																	135027504		2203	4300	6503	SO:0001589	frameshift_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135027504delA	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4555delA	10.37:g.135027504delA	ENSP00000304437:p.Lys1519fs					KNDC1_ENST00000368572.2_Frame_Shift_Del_p.K1521fs	p.K1519fs			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	26	4576	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1519			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Frame_Shift_Del	DEL	ENST00000304613.3	37	c.4555delA	CCDS7674.1																																																																																				0.547	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		8	817						8	817	---	---	---	---
CDHR5	53841	broad.mit.edu	37	11	618994	618994	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:618994delG	ENST00000358353.3	-	14	1887	c.1565delC	c.(1564-1566)ccgfs	p.P522fs	CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P522fs|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	522					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTCTGCACCCGGGGGCCCCCC	0.677																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1564-1566)cgfs		cadherin-related family member 5							55.0	72.0	66.0					11																	618994		2203	4299	6502	SO:0001589	frameshift_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618994delG	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1565delC	11.37:g.618994delG	ENSP00000351118:p.Pro522fs					CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P522fs|CDHR5_ENST00000349570.7_Intron	p.P522fs			Q9HBB8	CDHR5_HUMAN			14	1887	-			522					C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Frame_Shift_Del	DEL	ENST00000358353.3	37	c.1565delC	CCDS7707.1																																																																																				0.677	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		13	1078						13	1078	---	---	---	---
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)ttcdel	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(310-312)del		olfactory receptor, family 10, subfamily A, member 5																																				SO:0001651	inframe_deletion	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867223_6867225delTTC	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.310_312delTTC	11.37:g.6867232_6867234delTTC	ENSP00000299454:p.Phe108del					OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del	p.F108del			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	341_343	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	108					O95223|Q52M66|Q96R21|Q96R22	In_Frame_Del	DEL	ENST00000299454.4	37	c.310_312delTTC	CCDS7773.1																																																																																				0.517	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		7	588						7	588	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					ENST00000263773.5																			3	Deletion - In frame(3)	p.T58_T59delTT(3)	prostate(1)|breast(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(172-177)del		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_ENST00000534003.1_5'UTR	p.TT58del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			1	184_189	-			58					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																				0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			10	18						10	18	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		8	319						8	319	---	---	---	---
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tatgat>tat	p.D460del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	460	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		1	Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1363-1368)tat>t		Cbl proto-oncogene, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149356_119149358delATG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1364_1366delATG	11.37:g.119149365_119149367delATG	ENSP00000264033:p.Asp460del						p.YD455del	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1740_1742	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	455			Asp/Glu-rich (acidic).		A3KMP8	In_Frame_Del	DEL	ENST00000264033.4	37	c.1364_1366delATG	CCDS8418.1																																																																																				0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		9	321						9	321	---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-	rs144019095		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:6649704_6649706delGGC	ENST00000396840.2	-	9	1664_1666	c.1623_1625delGCC	c.(1621-1626)ccgcca>cca	p.541_542PP>P	IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P|RP5-940J5.9_ENST00000602946.1_RNA|RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P|IFFO1_ENST00000436152.2_In_Frame_Del_p.238_239PP>P|IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541	Poly-Pro.					intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(712-717)cca>cc		intermediate filament family orphan 1																																				SO:0001651	inframe_deletion	25900					intermediate filament		g.chr12:6649704_6649706delGGC	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1623_1625delGCC	12.37:g.6649713_6649715delGGC	ENSP00000380052:p.Pro542del					IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del	p.PP238del			Q0D2I5	IFFO1_HUMAN			11	1273_1275	-			541					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	In_Frame_Del	DEL	ENST00000396840.2	37	c.714_716delGCC																																																																																					0.601	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		7	525						7	525	---	---	---	---
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aagfs	p.K1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.K871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.K1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559																																						ENST00000442789.2																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(3097-3099)aggfs		myosin IA																																				SO:0001589	frameshift_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57422572_57422573insT	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3099dupA	12.37:g.57422580_57422580dupT	ENSP00000393392:p.Lys1033fs					MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs	p.R1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			29	3385_3386	-			1033					Q9UQD7	Frame_Shift_Ins	INS	ENST00000442789.2	37	c.3098_3099insA	CCDS8929.1																																																																																				0.559	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		7	539						7	539	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1276-1281)caa>ca		R3H domain containing 2																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del	p.QQ426del			Q9Y2K5	R3HD2_HUMAN			14	1668_1670	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1278_1280delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		8	364						8	364	---	---	---	---
ARHGEF25	115557	broad.mit.edu	37	12	58010623	58010623	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:58010623delA	ENST00000286494.4	+	15	2149	c.1689delA	c.(1687-1689)ccafs	p.P563fs	ARHGEF25_ENST00000477314.1_3'UTR|ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	563						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CTCCAACTCCAAAAACCCCTC	0.537																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1687-1689)ccfs		Rho guanine nucleotide exchange factor (GEF) 25							106.0	119.0	115.0					12																	58010623		2203	4300	6503	SO:0001589	frameshift_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010623delA		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1689delA	12.37:g.58010623delA	ENSP00000286494:p.Pro563fs					ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA	p.P563fs	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			15	2149	+			563					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Del	DEL	ENST00000286494.4	37	c.1689delA	CCDS8947.1																																																																																				0.537	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		7	985						7	985	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	64061890	64061890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:64061890delT	ENST00000324472.4	-	1	467	c.284delA	c.(283-285)aagfs	p.K95fs	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	95					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TTCCTGCACCTTTTCCCGGAG	0.612																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(283-285)agfs		dpy-19-like 2 (C. elegans)							62.0	66.0	65.0					12																	64061890		2203	4300	6503	SO:0001589	frameshift_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64061890delT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.284delA	12.37:g.64061890delT	ENSP00000315988:p.Lys95fs					RP11-415I12.3_ENST00000509615.2_RNA	p.K95fs	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	1	467	-			95					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Frame_Shift_Del	DEL	ENST00000324472.4	37	c.284delA	CCDS31851.1																																																																																				0.612	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		8	603						8	603	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			8	27						8	27	---	---	---	---
RFC3	5983	broad.mit.edu	37	13	34398063	34398063	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr13:34398063delA	ENST00000380071.3	+	3	365	c.235delA	c.(235-237)aaafs	p.K81fs	RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	81					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GACTCCATCTAAAAAAAAAAT	0.269																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(235-237)aafs		replication factor C (activator 1) 3, 38kDa			,	108,4134		12,84,2025	27.0	30.0	29.0		,	1.9	1.0	13		30	256,7956		39,178,3889	no	frameshift,frameshift	RFC3	NM_181558.2,NM_002915.3	,	51,262,5914	A1A1,A1R,RR		3.1174,2.546,2.9228	,	,	34398063	364,12090	2195	4285	6480	SO:0001589	frameshift_variant	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34398063delA		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.235delA	13.37:g.34398063delA	ENSP00000369411:p.Lys81fs					RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs	p.K81fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	3	365	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	81					C9JU95|O15252|Q5W0E8	Frame_Shift_Del	DEL	ENST00000380071.3	37	c.235delA	CCDS9352.1																																																																																				0.269	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		9	104						9	104	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	TGT	-	rs148625973|rs541782956	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr13:45148691_45148693delTGT	ENST00000458659.2	-	1	2008_2010	c.1518_1520delACA	c.(1516-1521)caacag>cag	p.506_507QQ>Q	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_In_Frame_Del_p.506_507QQ>Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	506	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502														87	0.0173722	0.0598	0.0086	5008	,	,		24285	0.0		0.0	False		,,,				2504	0.002					ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1516-1521)cag>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148691_45148693delTGT	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1518_1520delACA	13.37:g.45148700_45148702delTGT	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del	p.QQ508del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2008_2010	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	508			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1518_1520delACA	CCDS31966.1																																																																																				0.502	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		7	595						7	595	---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95696016	95696016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr13:95696016delT	ENST00000376887.4	-	29	3769	c.3655delA	c.(3655-3657)atcfs	p.I1219fs	ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1219	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTCTCCCGGATTTTTTTTTGT	0.378																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3655-3657)tcfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						105.0	104.0	104.0					13																	95696016		2203	4300	6503	SO:0001589	frameshift_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95696016delT	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3655delA	13.37:g.95696016delT	ENSP00000366084:p.Ile1219fs					ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs	p.I1219fs	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			29	3769	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1219			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Frame_Shift_Del	DEL	ENST00000376887.4	37	c.3655delA	CCDS9474.1																																																																																				0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		7	339						7	339	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-	rs528863117		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_ENST00000546834.1_In_Frame_Del_p.L11del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	11					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.67																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(13-18)acc>ac		low density lipoprotein receptor-related protein 10																																				SO:0001651	inframe_deletion	26020				endocytosis	coated pit|integral to membrane		g.chr14:23341527_23341529delCCT	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.15_17delCCT	14.37:g.23341536_23341538delCCT	ENSP00000352601:p.Leu11del					LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	1	706_708	+	all_cancers(95;4.69e-05)		5					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	In_Frame_Del	DEL	ENST00000359591.4	37	c.15_17delCCT	CCDS9578.1																																																																																				0.670	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			10	614						10	614	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000359320.3_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			7	624						7	624	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-	rs369895963	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483														289	0.0577077	0.0681	0.0548	5008	,	,		16601	0.003		0.1352	False		,,,				2504	0.0225					ENST00000554725.1																			0																																																			0							g.chr14:57509058_57509064delTCCAAGC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57509065_57509071delTCCAAGC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.483	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		10	62						10	62	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514603	75514604	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:75514603_75514604insT	ENST00000556740.1	-	1	1790_1791	c.1755_1756insA	c.(1753-1758)aaagaafs	p.E586fs	MLH3_ENST00000238662.7_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.E586fs|MLH3_ENST00000355774.2_Frame_Shift_Ins_p.E586fs			Q9UHC1	MLH3_HUMAN	mutL homolog 3	586					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTGCTAGATTCTTTTTTTTTCT	0.356								Mismatch excision repair (MMR)																														ENST00000355774.2																			3	Deletion - In frame(2)|Substitution - Nonsense(1)	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)	breast(2)|large_intestine(1)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1753-1758)aaaatcfs	Mismatch excision repair (MMR)	mutL homolog 3																																				SO:0001589	frameshift_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514603_75514604insT	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1756dupA	14.37:g.75514612_75514612dupT	ENSP00000452316:p.Glu586fs					MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs	p.I586fs	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1970_1971	-			586					P49751|Q56DK9|Q9P292|Q9UHC0	Frame_Shift_Ins	INS	ENST00000556740.1	37	c.1755_1756insA	CCDS32123.1																																																																																				0.356	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		13	450						13	450	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	ACT	-	rs553767931|rs571911882	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:106691799_106691801delACT	ENST00000390607.2	-	0	301_303									immunoglobulin heavy variable 3-21																		AGTATATGTAACTACTACTACTA	0.517																																						ENST00000390607.2																			0																																																			0							g.chr14:106691799_106691801delACT	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691808_106691810delACT														0	301_303	-									RNA	DEL	ENST00000390607.2	37																																																																																						0.517	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		9	973						9	973	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-	rs199815306|rs144292224	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304									immunoglobulin heavy variable 3-48																		TAGTATATGGTACTACTACTACT	0.502																																						ENST00000390624.2																			0																	307,3283		14,279,1502						-5.2	0.0		dbSNP_134	157	272,7558		29,214,3672	no	intergenic				43,493,5174	A1A1,A1R,RR		3.4738,8.5515,5.0701				579,10841						0							g.chr14:106993939_106993941delTAC	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993948_106993950delTAC														0	302_304	-									RNA	DEL	ENST00000390624.2	37																																																																																						0.502	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		12	1449						12	1449	---	---	---	---
SPINT1	6692	broad.mit.edu	37	15	41149075	41149077	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:41149075_41149077delCAC	ENST00000344051.4	+	11	1726_1728	c.1492_1494delCAC	c.(1492-1494)cacdel	p.H501del	SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del|SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	501					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTTCCACGGACACCACCACCACC	0.586																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(1492-1494)del		serine peptidase inhibitor, Kunitz type 1																																				SO:0001651	inframe_deletion	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41149075_41149077delCAC		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1492_1494delCAC	15.37:g.41149084_41149086delCAC	ENSP00000342098:p.His501del					SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del|SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del	p.H501del			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	11	1726_1728	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	501					Q7Z7D2	In_Frame_Del	DEL	ENST00000344051.4	37	c.1492_1494delCAC	CCDS10067.1																																																																																				0.586	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		7	1220						7	1220	---	---	---	---
EIF3J	8669	broad.mit.edu	37	15	44829395	44829397	+	Start_Codon_Del	DEL	GGC	GGC	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:44829395_44829397delGGC	ENST00000535391.1	+	0	15_17				EIF3J_ENST00000261868.5_Start_Codon_Del|EIF3J_ENST00000424492.3_Start_Codon_Del|EIF3J-AS1_ENST00000313807.4_lincRNA					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GGCTCGAGATggcggcggcggcg	0.719																																						ENST00000261868.5																			0				endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9								eukaryotic translation initiation factor 3, subunit J				1,1,72,3298		0,0,0,1,0,0,1,8,56,1620						4.4	1.0			13	26,28,170,6976		4,0,0,18,1,0,26,11,148,3392	no	codingComplex	EIF3J	NM_003758.2		4,0,0,19,1,0,27,19,204,5012	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.1111,2.1945,2.8188				27,29,242,10274				SO:0001582	initiator_codon_variant	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44829395_44829397delGGC	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158		15.37:g.44829404_44829406delGGC						EIF3J_ENST00000535391.1_Start_Codon_Del|EIF3J_ENST00000424492.3_Start_Codon_Del		NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	0	141_143	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)							Translation_Start_Site	DEL	ENST00000535391.1	37																																																																																						0.719	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1	NM_003758		7	133						7	133	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79750585	79750586	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:79750585_79750586insA	ENST00000305428.3	+	2	2171_2172	c.2096_2097insA	c.(2095-2100)ttaaaafs	p.LK699fs		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	699						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTCAAGGCCTTAAAAAAAAGCC	0.545																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2095-2097)taafs		KIAA1024																																				SO:0001589	frameshift_variant	23251					integral to membrane		g.chr15:79750585_79750586insA	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2104dupA	15.37:g.79750593_79750593dupA	ENSP00000307461:p.Leu699fs						p.*699fs	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	2171_2172	+			699					A7MD43	Frame_Shift_Ins	INS	ENST00000305428.3	37	c.2096_2097insA	CCDS32306.1																																																																																				0.545	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		8	661						8	661	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595|rs28546919|rs200021459|rs199821487	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:90320135_90320146delGGGCAGGGGCAG	ENST00000341735.3	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)gggcaggggcagdel	p.GQGQ199del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	199	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783																																						ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(547-558)del		mesoderm posterior 2 homolog (mouse)																																				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320135_90320146delGGGCAGGGGCAG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.547_558delGGGCAGGGGCAG	15.37:g.90320135_90320146delGGGCAGGGGCAG	ENSP00000342392:p.Gly199_Gln202del					MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	p.GQGQ199del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	547_558	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		199			13 X 2 AA tandem repeats of G-Q.		Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.547_558delGGGCAGGGGCAG	CCDS42078.1																																																																																				0.783	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		8	20						8	20	---	---	---	---
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327																																						ENST00000565421.1																			0																																																			0							g.chr16:53404542_53404543insA																													16.37:g.53404545_53404545dupA														0	410	-									RNA	INS	ENST00000565421.1	37																																																																																						0.327	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			21	144						21	144	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:89349640_89349641insT	ENST00000301030.4	-	9	3769_3770	c.3309_3310insA	c.(3307-3312)aaagatfs	p.D1104fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.D1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1104	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3307-3312)aaatgafs		ankyrin repeat domain 11																																				SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89349640_89349641insT	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3310dupA	16.37:g.89349648_89349648dupT	ENSP00000301030:p.Asp1104fs					ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs	p.*1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3769_3770	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1104			Lys-rich.		Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	ENST00000301030.4	37	c.3309_3310insA	CCDS32513.1																																																																																				0.465	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		12	709						12	709	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|MPDU1_ENST00000423172.2_3'UTR|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			8	1110						8	1110	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7496122	7496122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:7496122delG	ENST00000250113.7	-	14	1953	c.1619delC	c.(1618-1620)ccafs	p.P540fs	SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	540						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P540fs*32(1)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGCACTTGCTGGGGGGGGTTC	0.612																																						ENST00000250113.7																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P540fs*32(1)|p.A541fs*14(1)	large_intestine(2)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1618-1620)cafs		fragile X mental retardation, autosomal homolog 2				40,24,3406		1,0,38,3,18,1675	20.0	22.0	21.0			4.5	1.0	17		21	44,58,7634		1,0,42,4,50,3771	no	codingComplex	FXR2	NM_004860.3		2,0,80,7,68,5446	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3185,1.8444,1.4813			7496122	84,82,11040	1812	4065	5877	SO:0001589	frameshift_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496122delG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1619delC	17.37:g.7496122delG	ENSP00000250113:p.Pro540fs						p.P540fs	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	14	1953	-			540					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Del	DEL	ENST00000250113.7	37	c.1619delC	CCDS45604.1																																																																																				0.612	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			7	300						7	300	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578373	7578373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:7578373delT	ENST00000269305.4	-	5	746	c.557delA	c.(556-558)gatfs	p.D186fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	186	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		D -> E (in a sporadic cancer; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(2)|p.V173fs*59(2)|p.D186_P191delDGLAPP(1)|p.D186V(1)|p.D186G(1)|p.S185_D186delSD(1)|p.D186fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGCTCACCATCGCTATCTGA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		17	Whole gene deletion(8)|Deletion - Frameshift(3)|Substitution - Missense(2)|Deletion - In frame(2)|Unknown(2)	p.0?(8)|p.?(2)|p.V173fs*59(2)|p.D186_P191delDGLAPP(1)|p.D186V(1)|p.D186G(1)|p.S185_D186delSD(1)|p.D186fs*22(1)	bone(4)|central_nervous_system(3)|oesophagus(3)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(556-558)gtfs	Other conserved DNA damage response genes	tumor protein p53							48.0	46.0	47.0					17																	7578373		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578373delT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.557delA	17.37:g.7578373delT	ENSP00000269305:p.Asp186fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs	p.D186fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	689	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	186		D -> E (in a sporadic cancer; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.557delA	CCDS11118.1																																																																																				0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		111	115						111	115	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:27001303_27001305delGAG	ENST00000314616.6	+	3	395_397	c.112_114delGAG	c.(112-114)gagdel	p.E43del	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	43	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(112-114)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27001303_27001305delGAG	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.112_114delGAG	17.37:g.27001312_27001314delGAG	ENSP00000319104:p.Glu43del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			3	395_397	+	Lung NSC(42;0.00431)		43			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.112_114delGAG	CCDS32596.1																																																																																				0.453	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		8	197						8	197	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		14	1232						14	1232	---	---	---	---
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|GALR2_ENST00000329003.3_5'Flank	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1; AAF24308). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(43-45)del		signal recognition particle 68kDa				26,1444		5,16,714						-7.9	0.0			11	113,3743		17,79,1832	no	coding	SRP68	NM_014230.2		22,95,2546	A1A1,A1R,RR		2.9305,1.7687,2.6098				139,5187				SO:0001651	inframe_deletion	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068528_74068530delGCC	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.43_45delGGC	17.37:g.74068537_74068539delGCC	ENSP00000312066:p.Gly15del					SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	p.G15del	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			1	204_206	-			15	Missing (in Ref. 1).		Poly-Gly.		B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	In_Frame_Del	DEL	ENST00000307877.2	37	c.43_45delGGC	CCDS11738.1																																																																																				0.709	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		8	256						8	256	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54358513	54358513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr18:54358513delG	ENST00000254442.3	+	8	995	c.784delG	c.(784-786)gggfs	p.G263fs	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Frame_Shift_Del_p.G263fs	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	263					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GACATGGACCGGGGGGGACTT	0.418																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(784-786)ggfs		WD repeat domain 7							93.0	101.0	98.0					18																	54358513		2203	4300	6503	SO:0001589	frameshift_variant	23335							g.chr18:54358513delG	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.784delG	18.37:g.54358513delG	ENSP00000254442:p.Gly263fs					WDR7_ENST00000357574.3_Frame_Shift_Del_p.G263fs|WDR7_ENST00000589935.1_Intron	p.G263fs	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	8	995	+			263					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Frame_Shift_Del	DEL	ENST00000254442.3	37	c.784delG	CCDS11962.1																																																																																				0.418	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			7	468						7	468	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74593429	74593430	+	Frame_Shift_Ins	INS	-	-	A	rs201842338		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr18:74593429_74593430insA	ENST00000253159.8	+	9	1570_1571	c.1372_1373insA	c.(1372-1374)gaafs	p.E458fs	ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.E460fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	458					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGATAAAAAAGAAAAAAAAATG	0.381																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(1372-1374)aaafs		zinc finger protein 236																																				SO:0001589	frameshift_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74593429_74593430insA	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1381dupA	18.37:g.74593438_74593438dupA	ENSP00000253159:p.Glu458fs					ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs	p.K458fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	9	1570_1571	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	458					B2RTX9|Q9UL37	Frame_Shift_Ins	INS	ENST00000253159.8	37	c.1372_1373insA	CCDS42447.1																																																																																				0.381	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			8	280						8	280	---	---	---	---
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		8	312						8	312	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:12461741delA	ENST00000242804.4	-	6	1240	c.658delT	c.(658-660)tggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(658-660)ggfs		zinc finger protein 442							136.0	132.0	134.0					19																	12461741		2203	4300	6503	SO:0001589	frameshift_variant	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461741delA	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.658delT	19.37:g.12461741delA	ENSP00000242804:p.Trp220fs					ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	p.W220fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1240	-			220					B4DJ48	Frame_Shift_Del	DEL	ENST00000242804.4	37	c.658delT	CCDS12271.1																																																																																				0.403	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		7	695						7	695	---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15355552	15355552	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:15355552delT	ENST00000263377.2	-	12	2401	c.2180delA	c.(2179-2181)aagfs	p.K728fs		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	728					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTGCCCCTTCTTTTTTGACTT	0.572			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(2179-2181)agfs		bromodomain containing 4							126.0	125.0	126.0					19																	15355552		2203	4300	6503	SO:0001589	frameshift_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15355552delT	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2180delA	19.37:g.15355552delT	ENSP00000263377:p.Lys728fs						p.K728fs	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		12	2401	-			728					O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Del	DEL	ENST00000263377.2	37	c.2180delA	CCDS12328.1																																																																																				0.572	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		7	960						7	960	---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34710340	34710340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:34710340delC	ENST00000433627.5	+	7	901	c.826delC	c.(826-828)cggfs	p.R276fs	LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000544216.3_Frame_Shift_Del_p.R276fs	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	276					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGGGGGTCATCGGGGTGGCAG	0.438																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(826-828)ggfs		LSM14A, SCD6 homolog A (S. cerevisiae)							75.0	85.0	82.0					19																	34710340		2203	4300	6503	SO:0001589	frameshift_variant	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710340delC	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.826delC	19.37:g.34710340delC	ENSP00000413964:p.Arg276fs					LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs	p.R276fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			7	903	+	Esophageal squamous(110;0.162)		276					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Frame_Shift_Del	DEL	ENST00000433627.5	37	c.826delC	CCDS46040.1																																																																																				0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		7	601						7	601	---	---	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			14	1371						14	1371	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-	rs372504451		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621																																						ENST00000594009.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(46-48)del		fms-related tyrosine kinase 3 ligand																																				SO:0001651	inframe_deletion	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49978960_49978962delCTG	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.46_48delCTG	19.37:g.49978969_49978971delCTG	ENSP00000469613:p.Leu20del					FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR	p.L20del	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	2	125_127	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	20					A0AVC2|B9EGH2|Q05C96	In_Frame_Del	DEL	ENST00000594009.1	37	c.46_48delCTG	CCDS12767.1																																																																																				0.621	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			10	460						10	460	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		9	45						9	45	---	---	---	---
BFSP1	631	broad.mit.edu	37	20	17474884	17474884	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:17474884delT	ENST00000377873.3	-	8	1872	c.1833delA	c.(1831-1833)aaafs	p.K611fs	BFSP1_ENST00000544874.1_Frame_Shift_Del_p.K472fs|BFSP1_ENST00000536626.1_Frame_Shift_Del_p.K472fs|BFSP1_ENST00000377868.2_Frame_Shift_Del_p.K486fs	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	611	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TGGGAGGGCCTTTTTCTGGCA	0.527																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1831-1833)aafs		beaded filament structural protein 1, filensin							112.0	115.0	114.0					20																	17474884		2203	4300	6503	SO:0001589	frameshift_variant	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17474884delT	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1833delA	20.37:g.17474884delT	ENSP00000367104:p.Lys611fs					BFSP1_ENST00000544874.1_Frame_Shift_Del_p.K472fs|BFSP1_ENST00000536626.1_Frame_Shift_Del_p.K472fs|BFSP1_ENST00000377868.2_Frame_Shift_Del_p.K486fs	p.K611fs	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1872	-			611			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Frame_Shift_Del	DEL	ENST00000377873.3	37	c.1833delA	CCDS13126.1																																																																																				0.527	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		7	775						7	775	---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1183-1185)del		kinesin family member 3B				60,4204		6,48,2078						2.7	1.0			52	101,8153		6,89,4032	no	coding	KIF3B	NM_004798.3		12,137,6110	A1A1,A1R,RR		1.2236,1.4071,1.2861				161,12357				SO:0001651	inframe_deletion	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898763_30898765delGAG	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1183_1185delGAG	20.37:g.30898772_30898774delGAG	ENSP00000364864:p.Glu399del					KIF3B_ENST00000418717.2_Intron	p.E399del	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1350_1352	+			399			Poly-Glu.		B2RMP4|B4DSR5|E1P5M5	In_Frame_Del	DEL	ENST00000375712.3	37	c.1183_1185delGAG	CCDS13200.1																																																																																				0.571	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		7	220						7	220	---	---	---	---
CBR3	874	broad.mit.edu	37	21	37510175	37510175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr21:37510175delT	ENST00000290354.5	+	2	623	c.342delT	c.(340-342)aatfs	p.N114fs	CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608622.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	114					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	TGAAGACAAATTTTTTTGCCA	0.408																																						ENST00000290354.5																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(340-342)aafs		carbonyl reductase 3							158.0	149.0	152.0					21																	37510175		2203	4300	6503	SO:0001589	frameshift_variant	874					cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding	g.chr21:37510175delT	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.342delT	21.37:g.37510175delT	ENSP00000290354:p.Asn114fs					CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	p.N114fs	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN			2	623	+			114					Q6FHP2	Frame_Shift_Del	DEL	ENST00000290354.5	37	c.342delT	CCDS13642.1																																																																																				0.408	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			7	631						7	631	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44929370	44929371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:44929370_44929371insC	ENST00000377967.4	+	17	2511_2512	c.2470_2471insC	c.(2470-2472)tcafs	p.S824fs	KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.S745fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.S779fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.S831fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	824	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCAGCCATTTCAACAGCAACA	0.45			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2470-2472)aacfs		lysine (K)-specific demethylase 6A																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929370_44929371insC	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2471dupC	X.37:g.44929371_44929371dupC	ENSP00000367203:p.Ser824fs					KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.N831fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.N745fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.N779fs	p.N824fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			17	2511_2512	+			824					Q52LL9|Q5JVQ7	Frame_Shift_Ins	INS	ENST00000377967.4	37	c.2470_2471insC	CCDS14265.1																																																																																				0.450	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		28	147						28	147	---	---	---	---
FAM155B	27112	broad.mit.edu	37	X	68725672	68725672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:68725672delA	ENST00000252338.4	+	1	589	c.547delA	c.(547-549)aaafs	p.K184fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	184						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCCCTCCGCCAAAAAAAACTT	0.592																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(547-549)aafs		family with sequence similarity 155, member B							42.0	43.0	43.0					X																	68725672		2203	4300	6503	SO:0001589	frameshift_variant	27112					integral to membrane		g.chrX:68725672delA	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.547delA	X.37:g.68725672delA	ENSP00000252338:p.Lys184fs						p.K184fs	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			1	589	+			184					B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Del	DEL	ENST00000252338.4	37	c.547delA	CCDS35317.1																																																																																				0.592	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		10	457						10	457	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	lincRNA	DEL	AC	AC	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCACACATGACACACACACAC	0.47																																						ENST00000604411.1																			0																	21,2160		6,4,5,902,352						-3.8	0.0			146	63,3745		10,20,23,1404,917	no	intergenic				16,24,28,2306,1269	A1A1,A1R,A1,RR,R		1.6544,0.9629,1.4026				84,5905						0							g.chrX:73047124_73047125delAC			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047134_73047135delAC						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35085_35086	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.470	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		12	547						12	547	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	1221						7	1221	---	---	---	---
